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
OR4D1	26689	broad.mit.edu	37	17	56233157	56233157	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:56233157C>T	ENST00000268912.5	+	1	664	c.643C>T	c.(643-645)Ctg>Ttg	p.L215L		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L215L(1)		kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CCTCCTCCTTCTGATCTCTTA	0.537000													56	56					0	0	0.870114	0	0
PDK2	5164	broad.mit.edu	37	17	48174834	48174834	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:48174834G>C	ENST00000503176.1	+	2	327	c.166G>C	c.(166-168)Gag>Cag	p.E56Q	PDK2_ENST00000007708.3_5'UTR	NM_002611.4	NP_002602.2	Q15119	PDK2_HUMAN	pyruvate dehydrogenase kinase, isozyme 2	56					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|nucleus	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity	p.E56Q(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	20						CCTCAGGCAGGAGCTGCCTGT	0.572000									Autosomal Dominant Polycystic Kidney Disease				35	63					0	0	0.819951	0	0
CDON	50937	broad.mit.edu	37	11	125891384	125891384	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:125891384G>C	ENST00000392693.3	-	3	235	c.108C>G	c.(106-108)ctC>ctG	p.L36L	CDON_ENST00000263577.7_Silent_p.L36L	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	36	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding	p.L36L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GGACAGCAGAGAGCGGCTCAG	0.448000													16	33					0	0	0.500413	0	0
CRYBB1	1414	broad.mit.edu	37	22	27008146	27008146	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:27008146G>T	ENST00000215939.2	-	3	319	c.189C>A	c.(187-189)gtC>gtA	p.V63V		NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1	63	Beta/gamma crystallin 'Greek key' 1.				visual perception		structural constituent of eye lens	p.V63V(2)		breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						CCAGTTCGAAGACCACCAGCT	0.532000													23	93					7.87624e-14	8.41479e-14	0.639603	1	0
MOGAT1	116255	broad.mit.edu	37	2	223553091	223553091	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:223553091G>T	ENST00000446656.3	+	2	123	c.123G>T	c.(121-123)atG>atT	p.M41I		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	41					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.M41I(1)|p.M40I(1)		breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		TCACTGTGATGCTGATCATAC	0.473000													5	12					5.9392e-07	6.08525e-07	0.217242	1	0
APOB	338	broad.mit.edu	37	2	21250702	21250702	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:21250702C>T	ENST00000233242.1	-	14	2192	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K	APOB_ENST00000399256.4_Missense_Mutation_p.E689K	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	689					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E689K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACTTACCTCGATGAGGTCA	0.433000													18	54					0	0	0.575678	0	0
IGLV5-45	28781	broad.mit.edu	37	22	22730631	22730631	+	RNA	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:22730631C>G	ENST00000390296.2	+	0	154																											TCACCTGCACCTTGCGCAGTG	0.537000													23	96					0	0	0.639603	0	0
INPP1	3628	broad.mit.edu	37	2	191227381	191227381	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:191227381G>A	ENST00000392329.2	+	4	933	c.233G>A	c.(232-234)gGa>gAa	p.G78E	INPP1_ENST00000541441.1_Missense_Mutation_p.G78E|INPP1_ENST00000417336.1_Intron|INPP1_ENST00000322522.4_Missense_Mutation_p.G78E	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	78					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	p.G78E(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	AATATTTTTGGAGAAGAATCC	0.303000													22	73					0	0	0.706142	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407204	38407204	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:38407204G>A	ENST00000322350.5	+	8	1449	c.1103G>A	c.(1102-1104)cGa>cAa	p.R368Q	EGFLAM_ENST00000336740.6_Missense_Mutation_p.R134Q|EGFLAM_ENST00000354891.3_Missense_Mutation_p.R368Q|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	368	EGF-like 1.					cell junction|proteinaceous extracellular matrix|synapse		p.R368Q(4)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGGGGCTCGCGATGCCAGTGC	0.552000													22	52					0	0	0.608945	0	0
DCAF6	55827	broad.mit.edu	37	1	168034939	168034939	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:168034939G>C	ENST00000367840.3	+	19	2645	c.2551G>C	c.(2551-2553)Gat>Cat	p.D851H	DCAF6_ENST00000432587.2_Missense_Mutation_p.D820H|DCAF6_ENST00000367843.3_Missense_Mutation_p.D780H|DCAF6_ENST00000312263.6_Missense_Mutation_p.D760H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	760					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	p.D780H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCTGGAAGCTGATAATCATGT	0.443000													48	36					0	0	0.870114	0	0
MLH1	4292	broad.mit.edu	37	3	37035075	37035075	+	Missense_Mutation	SNP	G	G	A	rs63750057		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:37035075G>A	ENST00000231790.2	+	1	253	c.37G>A	c.(37-39)Gag>Aag	p.E13K		NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	13					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.E13K(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCGGCTGGACGAGACAGTGGT	0.567000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				25	75					0	0	0.706142	0	0
RBM12	10137	broad.mit.edu	37	20	34242690	34242690	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:34242690G>T	ENST00000374114.3	-	3	818	c.555C>A	c.(553-555)gtC>gtA	p.V185V	RBM12_ENST00000359646.1_Silent_p.V185V|RBM12_ENST00000374104.3_Silent_p.V185V|CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000397445.1_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000397443.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	185	Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding	p.V185V(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GTGGCGGCGGGACTGTGTTCA	0.547000													14	41					1.15088e-07	1.18403e-07	0.500413	1	0
RBM10	8241	broad.mit.edu	37	X	47041369	47041369	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:47041369C>G	ENST00000377604.3	+	16	2455	c.1713C>G	c.(1711-1713)acC>acG	p.T571T	RBM10_ENST00000329236.7_Silent_p.T493T|RBM10_ENST00000345781.6_Silent_p.T494T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	571	Tyr-rich.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.T571T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ACGTCTCTACCTACCAGTACG	0.582000													30	21					0	0	0.717897	0	0
GPR98	84059	broad.mit.edu	37	5	90106172	90106172	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:90106172G>A	ENST00000405460.2	+	74	15191	c.15095G>A	c.(15094-15096)gGg>gAg	p.G5032E	GPR98_ENST00000425867.2_Missense_Mutation_p.G693E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5032					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.G5032E(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGACTATTTGGGTTCCACAGC	0.403000													8	18					0	0	0.278610	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325196	47325196	+	RNA	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:47325196C>G	ENST00000505841.1	-	0	1204					NR_002788.2																						TTCTCCCTCTCTGGGAAATAA	0.438000													5	6					0	0	0.184627	0	0
GRIA1	2890	broad.mit.edu	37	5	153181955	153181955	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:153181955G>A	ENST00000285900.5	+	15	2768	c.2425G>A	c.(2425-2427)Gtg>Atg	p.V809M	GRIA1_ENST00000340592.5_Missense_Mutation_p.V809M|GRIA1_ENST00000518142.1_Missense_Mutation_p.V729M|GRIA1_ENST00000521843.2_Missense_Mutation_p.V740M|GRIA1_ENST00000518783.1_Missense_Mutation_p.V819M|GRIA1_ENST00000448073.4_Missense_Mutation_p.V819M	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	809					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.V809M(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGTGGCAGGCGTGTTCTACAT	0.517000													45	101					0	0	0.870114	0	0
ZNF335	63925	broad.mit.edu	37	20	44589147	44589147	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:44589147C>G	ENST00000322927.2	-	13	1900	c.1800G>C	c.(1798-1800)aaG>aaC	p.K600N	ZNF335_ENST00000426788.1_Missense_Mutation_p.K445N	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K600N(1)		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)				TGTAGCGCTTCTTAAAGGACT	0.622000													47	113					0	0	0.870114	0	0
CCDC135	84229	broad.mit.edu	37	16	57755605	57755605	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:57755605C>A	ENST00000360716.3	+	10	1454	c.1233C>A	c.(1231-1233)ttC>ttA	p.F411L	CCDC135_ENST00000394337.4_Missense_Mutation_p.F411L|CCDC135_ENST00000336825.8_Missense_Mutation_p.F346L			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	411						cytoplasm		p.F411L(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ATAAGAGCTTCGACATGCCCC	0.532000													22	63					6.38683e-12	6.73716e-12	0.729181	1	0
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:92506013C>T	ENST00000267622.4	-	1	390	c.17G>A	c.(16-18)gGg>gAg	p.G6E	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.G6E(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCCGAGGCCCCCAAGCCAGGA	0.577000			T	PDGFRB	AML								6	15					0	0	0.278610	0	0
SMOC1	64093	broad.mit.edu	37	14	70459181	70459181	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:70459181G>A	ENST00000381280.4	+	6	827	c.574G>A	c.(574-576)Gat>Aat	p.D192N	SMOC1_ENST00000361956.3_Missense_Mutation_p.D192N	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	192					cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.D192N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GCCGGTGTTCGATGGAGATGG	0.413000													11	67					0	0	0.387290	0	0
MDN1	23195	broad.mit.edu	37	6	90468570	90468570	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:90468570G>A	ENST00000369393.3	-	18	2685	c.2570C>T	c.(2569-2571)tCt>tTt	p.S857F	MDN1_ENST00000428876.1_Missense_Mutation_p.S857F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	857					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.S857F(1)|p.S857Y(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGGGATCCAGAAGATCCTTC	0.473000													13	40					0	0	0.435327	0	0
LOC494141	494141	broad.mit.edu	37	11	18231258	18231258	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:18231258C>T	ENST00000527059.1	+	1	504	c.44C>T	c.(43-45)tCa>tTa	p.S15L	RP11-113D6.10_ENST00000340135.3_Missense_Mutation_p.S15L|RP11-113D6.10_ENST00000534640.1_Missense_Mutation_p.S15L																							TTCAGAAGCTCATGGAAAGAG	0.358000													18	56					0	0	0.539581	0	0
ATN1	1822	broad.mit.edu	37	12	7045608	7045608	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:7045608C>G	ENST00000356654.4	+	5	1415	c.1178C>G	c.(1177-1179)tCt>tGt	p.S393C	ATN1_ENST00000396684.2_Missense_Mutation_p.S393C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	393	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.S393C(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						tcttcctcctcttcctctgcc	0.587000													24	65					0	0	0.681144	0	0
AGFG2	3268	broad.mit.edu	37	7	100151098	100151098	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:100151098C>G	ENST00000300176.4	+	4	682	c.560C>G	c.(559-561)tCa>tGa	p.S187*	AGFG2_ENST00000262935.4_Intron|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	187					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S187*(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGTCTCTCTCAGTTGCTGCC	0.542000													32	102					0	0	0.788014	0	0
CDH3	1001	broad.mit.edu	37	16	68718667	68718667	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:68718667C>T	ENST00000264012.4	+	10	1908	c.1364C>T	c.(1363-1365)aCt>aTt	p.T455I	CDH3_ENST00000429102.2_Missense_Mutation_p.T455I|CDH3_ENST00000581171.1_Missense_Mutation_p.T400I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	455	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)|p.T455I(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		GGCATCCCCACTGGGGAGCCT	0.552000													61	214					0	0	0.870114	0	0
GALNT5	11227	broad.mit.edu	37	2	158165235	158165235	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:158165235G>C	ENST00000259056.4	+	9	3162	c.2677G>C	c.(2677-2679)Gaa>Caa	p.E893Q		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	893	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.E893Q(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTTTCATCCAGAACTGGTAAG	0.408000													22	52					0	0	0.624587	0	0
POLR3C	10623	broad.mit.edu	37	1	145608196	145608196	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:145608196C>T	ENST00000334163.3	-	4	661	c.501G>A	c.(499-501)gaG>gaA	p.E167E	POLR3C_ENST00000369294.1_Silent_p.E167E|POLR3C_ENST00000471254.1_5'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	167					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.E167E(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			GGTCTGAATTCTCAGTGGTAG	0.478000													30	187					0	0	0.740014	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144903050	144903050	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:144903050G>A	ENST00000529945.1	-	17	3770	c.3331C>T	c.(3331-3333)Cat>Tat	p.H1111Y	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000313431.9_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.H735Y|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	963					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTTGTGATGAATTCGCACA	0.522000			T	PDGFRB	MPD								36	181					0	0	0.840704	0	0
KDR	3791	broad.mit.edu	37	4	55961105	55961105	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:55961105G>A	ENST00000263923.4	-	21	3130	c.2835C>T	c.(2833-2835)ttC>ttT	p.F945F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	945	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.F945F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCCTTGACGGAATCGTGCCC	0.433000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			20	48					0	0	0.592651	0	0
TMEM117	84216	broad.mit.edu	37	12	44781901	44781901	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:44781901G>A	ENST00000266534.3	+	8	1118	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Missense_Mutation_p.G227R	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	331						endoplasmic reticulum|integral to membrane		p.G331R(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCATGAATATGGGCAATATAT	0.368000													19	29					0	0	0.557998	0	0
RIN2	54453	broad.mit.edu	37	20	19955572	19955572	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:19955572G>T	ENST00000255006.6	+	8	1199	c.1050G>T	c.(1048-1050)acG>acT	p.T350T	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	301					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	p.T301T(1)|p.T350T(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CGAATGGCACGGAGCGGACTC	0.607000													9	31					9.70103e-10	1.01052e-09	0.361761	1	0
CREB3L3	84699	broad.mit.edu	37	19	4168351	4168351	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4168351G>A	ENST00000078445.2	+	6	865	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CREB3L3_ENST00000602257.1_Missense_Mutation_p.E238K|CREB3L3_ENST00000252587.3_Missense_Mutation_p.E180K|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.E239K	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	240					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E240K(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGCAGTACGAGGAGCGAGT	0.542000													13	43					0	0	0.457914	0	0
HDAC6	10013	broad.mit.edu	37	X	48681849	48681849	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:48681849G>T	ENST00000334136.5	+	25	3218	c.3040G>T	c.(3040-3042)Ggg>Tgg	p.G1014W	HDAC6_ENST00000444343.2_Missense_Mutation_p.G1028W|HDAC6_ENST00000376619.2_Missense_Mutation_p.G1014W			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1014					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	p.G1014W(1)		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)	GGAGGCTCCAGGGGGCACCGA	0.622000													12	8					0.105934	0.106359	0.435327	1	0
VPS13B	157680	broad.mit.edu	37	8	100403871	100403871	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:100403871G>A	ENST00000395996.1	+	21	3132	c.3021G>A	c.(3019-3021)aaG>aaA	p.K1007K	VPS13B_ENST00000358544.2_Silent_p.K1007K|VPS13B_ENST00000357162.2_Silent_p.K1007K			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1007					protein transport			p.K1007K(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGGCAAAGCAGCAATCAT	0.453000													18	103					0	0	0.557998	0	0
NUSAP1	51203	broad.mit.edu	37	15	41657737	41657737	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:41657737G>C	ENST00000260359.6	+	7	1017	c.753G>C	c.(751-753)ctG>ctC	p.L251L	NUSAP1_ENST00000450592.2_Silent_p.L242L|NUSAP1_ENST00000560747.1_Silent_p.L264L|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000560177.1_Silent_p.L265L|NUSAP1_ENST00000450318.1_Silent_p.L266L|NUSAP1_ENST00000559596.1_Silent_p.L266L|NUSAP1_ENST00000414849.2_Silent_p.L265L	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	266	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding	p.L266L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCTTGGGTCTGAAGGGGTCAC	0.502000													5	26					0	0	0.217242	0	0
MERTK	10461	broad.mit.edu	37	2	112766049	112766049	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:112766049C>G	ENST00000295408.4	+	14	2214	c.1957C>G	c.(1957-1959)Cta>Gta	p.L653V	MERTK_ENST00000421804.2_Missense_Mutation_p.L653V|MERTK_ENST00000409780.1_Missense_Mutation_p.L477V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	653	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.L653V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CATTCGACTTCTAGGTACTTC	0.488000													25	52					0	0	0.667858	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599155	151599155	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:151599155C>T	ENST00000362032.5	+	3	929	c.824C>T	c.(823-825)tCc>tTc	p.S275F	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.S275F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTCATCAACTCCTTTTACATT	0.473000													154	131					0	0	0.870114	0	0
GSE1	23199	broad.mit.edu	37	16	85689517	85689517	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:85689517C>T	ENST00000253458.7	+	6	1159	c.983C>T	c.(982-984)gCg>gTg	p.A328V	GSE1_ENST00000393243.1_Missense_Mutation_p.A255V|GSE1_ENST00000405402.2_Missense_Mutation_p.A224V	NM_014615.2	NP_055430.1			Gse1 coiled-coil protein									p.A328V(1)									GGCCTCAGCGCGGAGAGGTAA	0.657000													8	26					0	0	0.307466	0	0
BIRC5	332	broad.mit.edu	37	17	76219552	76219552	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:76219552G>A	ENST00000301633.4	+	5	546	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	AC087645.1_ENST00000600484.1_Missense_Mutation_p.S243F|BIRC5_ENST00000350051.3_Missense_Mutation_p.E116K|BIRC5_ENST00000374948.2_Silent_p.R76R|BIRC5_ENST00000589892.1_3'UTR	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	116					anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	p.E139K(1)|p.R76R(1)|p.E116K(1)		kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			CCAGGCAAAGGAAACCAACAA	0.468000													25	43					0	0	0.667858	0	0
ANK2	287	broad.mit.edu	37	4	114158306	114158306	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:114158306A>G	ENST00000357077.4	+	6	700	c.647A>G	c.(646-648)cAc>cGc	p.H216R	ANK2_ENST00000394537.3_Missense_Mutation_p.H216R|ANK2_ENST00000506722.1_Missense_Mutation_p.H195R|ANK2_ENST00000264366.6_Missense_Mutation_p.H216R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	216					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.H216R(1)		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)		CAGAATGACCACAATGCTGAC	0.483000													64	155					0	0	0.870114	0	0
MICALL1	85377	broad.mit.edu	37	22	38328839	38328839	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:38328839C>T	ENST00000215957.6	+	12	2304	c.2178C>T	c.(2176-2178)ttC>ttT	p.F726F	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	726						cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.F726F(1)		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)					TGGACTGGTTCAAGCTCATCC	0.617000													11	59					0	0	0.411799	0	0
CILP	8483	broad.mit.edu	37	15	65491367	65491367	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:65491367C>G	ENST00000261883.4	-	9	1423	c.1257G>C	c.(1255-1257)caG>caC	p.Q419H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	419					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.Q419H(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGGTGGCATTCTGAAAGCAAT	0.507000													27	95					0	0	0.729181	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	58					0	0	0.115264	0	0
EGF	1950	broad.mit.edu	37	4	110890162	110890162	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:110890162G>C	ENST00000265171.5	+	11	2056	c.1611G>C	c.(1609-1611)gaG>gaC	p.E537D	EGF_ENST00000509793.1_Missense_Mutation_p.E495D|EGF_ENST00000503392.1_Missense_Mutation_p.E537D	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	537					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.E537D(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGTGGATAGAGAGAGCTAATA	0.403000													28	70					0	0	0.779181	0	0
VIPR1	7433	broad.mit.edu	37	3	42576579	42576579	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:42576579G>A	ENST00000433647.1	+	12	1624	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	VIPR1_ENST00000438259.2_Missense_Mutation_p.V165I|VIPR1_ENST00000325123.4_Missense_Mutation_p.V375I|VIPR1_ENST00000543411.1_Missense_Mutation_p.V327I	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	375					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	p.V375I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTTTGAGCTCGTCGTGGGGTC	0.498000													64	167					0	0	0.870114	0	0
CELSR3	1951	broad.mit.edu	37	3	48698816	48698816	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48698816T>A	ENST00000544264.1	-	1	1532	c.1252A>T	c.(1252-1254)Atg>Ttg	p.M418L	CELSR3_ENST00000164024.4_Missense_Mutation_p.M418L			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	418	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.M418L(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ACGGCCACCATCGTGGTGGCC	0.662000													17	56					0	0	0.592651	0	0
HDAC9	9734	broad.mit.edu	37	7	18975511	18975511	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:18975511C>G	ENST00000406451.4	+	23	3024	c.2874C>G	c.(2872-2874)ctC>ctG	p.L958L	HDAC9_ENST00000432645.2_Silent_p.L958L|HDAC9_ENST00000441542.2_Silent_p.L961L|HDAC9_ENST00000401921.1_Silent_p.L917L	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9		Histone deacetylase.				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	p.L961L(2)		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)	GACATGATCTCACAGCCATCT	0.433000													68	143					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9057196	9057196	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:9057196G>A	ENST00000397910.4	-	3	30453	c.30250C>T	c.(30250-30252)Ctg>Ttg	p.L10084L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10086	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.L10084L(1)|p.L5717L(1)		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						GAGGCAGCCAGTATTTCAACT	0.473000													10	41					0	0	0.411799	0	0
C4BPA	722	broad.mit.edu	37	1	207314560	207314560	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:207314560C>T	ENST00000367070.3	+	10	1577	c.1383C>T	c.(1381-1383)gtC>gtT	p.V461V		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	461	Sushi 7.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.V461V(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACATTCTGGTCGGACAGGCGA	0.413000													27	112					0	0	0.693898	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621928	99621928	+	Missense_Mutation	SNP	G	G	A	rs148037051		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:99621928G>A	ENST00000324306.6	+	3	812	c.578G>A	c.(577-579)cGa>cAa	p.R193Q	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.R157Q|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	193					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R193Q(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTACAGTCACGAGGTAAGAAG	0.512000													14	37					0	0	0.500413	0	0
RGP1	9827	broad.mit.edu	37	9	35752709	35752709	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:35752709C>G	ENST00000378078.4	+	9	1155	c.1014C>G	c.(1012-1014)ctC>ctG	p.L338L	RGP1_ENST00000456972.2_Silent_p.L378L	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	338								p.L338L(1)|p.L378L(1)		cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GATTGGTACTCCTACCCCCTG	0.498000													22	20					0	0	0.654019	0	0
VCAN	1462	broad.mit.edu	37	5	82817190	82817190	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:82817190G>A	ENST00000265077.3	+	7	3630	c.3065G>A	c.(3064-3066)aGa>aAa	p.R1022K	VCAN_ENST00000512590.2_Missense_Mutation_p.R974K|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.R1022K	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1022	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R1022K(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GAAACTATGAGAACAACAAAA	0.433000													18	44					0	0	0.539581	0	0
CPEB1	64506	broad.mit.edu	37	15	83296112	83296112	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:83296112C>G	ENST00000563800.1	-	2	1828	c.103G>C	c.(103-105)Gaa>Caa	p.E35Q	CPEB1_ENST00000562019.1_Missense_Mutation_p.E8Q|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000568128.1_Missense_Mutation_p.E8Q|CPEB1_ENST00000450751.2_5'UTR			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	8					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding	p.E8Q(1)		breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			CTTCCTGCTTCTTCTTCCTAG	0.398000													10	41					0	0	0.335167	0	0
SSPO	23145	broad.mit.edu	37	7	149512401	149512401	+	RNA	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:149512401C>T	ENST00000378016.2	+	0	10721							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGCTCTCCCAGGACGGG	0.721000													6	17					0	0	0.217242	0	0
LIPC	3990	broad.mit.edu	37	15	58861007	58861007	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:58861007C>G	ENST00000356113.6	+	11	2096	c.1481C>G	c.(1480-1482)tCa>tGa	p.S494*	LIPC_ENST00000299022.5_Nonsense_Mutation_p.S494*|LIPC_ENST00000433326.2_Nonsense_Mutation_p.S433*			P11150	LIPC_HUMAN	lipase, hepatic	494					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity	p.S494*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCTAAAACATCAAAGCGAAAG	0.348000													8	28					0	0	0.307466	0	0
CC2D2A	57545	broad.mit.edu	37	4	15569099	15569099	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:15569099C>T	ENST00000424120.1	+	25	3536	c.3282C>T	c.(3280-3282)ctC>ctT	p.L1094L	CC2D2A_ENST00000503292.1_Silent_p.L1094L|CC2D2A_ENST00000413206.1_Silent_p.L1094L|CC2D2A_ENST00000389652.5_Silent_p.L1045L			Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1094	C2.				cell projection organization	cilium|microtubule basal body		p.L1094L(1)|p.L1045L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						ACTACCCCCTCGGCCAGGTGA	0.493000													14	50					0	0	0.457914	0	0
ENOX1	55068	broad.mit.edu	37	13	43935581	43935581	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:43935581G>A	ENST00000261488.6	-	6	793	c.216C>T	c.(214-216)atC>atT	p.I72I	ENOX1_ENST00000412891.1_Silent_p.I72I	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	72					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	p.I72I(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CTGGGACACAGATTGAGTCTG	0.413000													20	52					0	0	0.592651	0	0
KCNS3	3790	broad.mit.edu	37	2	18112633	18112633	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:18112633C>T	ENST00000403915.1	+	3	809	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	KCNS3_ENST00000304101.4_Missense_Mutation_p.R120C|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	120					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity	p.R120C(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTGCAGCAATCGCTACCAGGA	0.507000													40	133					0	0	0.827153	0	0
TTC40	54777	broad.mit.edu	37	10	134671235	134671235	+	Silent	SNP	C	C	T	rs146998210	by1000genomes	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:134671235C>T	ENST00000368586.5	-	39	5533	c.5433G>A	c.(5431-5433)gcG>gcA	p.A1811A	TTC40_ENST00000263170.5_5'UTR	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	476								p.A1811A(1)		breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						CCAGGCCATACGCTTCCAAGT	0.473000													8	23					0	0	0.307466	0	0
MIA3	375056	broad.mit.edu	37	1	222826648	222826648	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:222826648G>C	ENST00000344922.5	+	15	4313	c.4288G>C	c.(4288-4290)Gat>Cat	p.D1430H	MIA3_ENST00000344441.6_Missense_Mutation_p.D1430H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.D308H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1430					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	p.D1430H(1)		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)		AGGTGGAAATGATTCAGATGA	0.418000													16	56					0	0	0.520397	0	0
DENR	8562	broad.mit.edu	37	12	123253605	123253605	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:123253605C>A	ENST00000280557.6	+	8	763	c.577C>A	c.(577-579)Ctt>Att	p.L193I	DENR_ENST00000455982.2_Intron	NM_003677.3	NP_003668.2	O43583	DENR_HUMAN	density-regulated protein	193							protein binding|translation initiation factor activity	p.L193I(1)		kidney(1)|large_intestine(1)|urinary_tract(1)	3	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.28e-05)|Epithelial(86;6.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.199)		CATCGAAGATCTTGGAGAAGT	0.318000													45	133					7.34454e-26	8.05323e-26	0.870114	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550273	4550273	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4550273C>G	ENST00000586582.1	-	12	1443	c.1133G>C	c.(1132-1134)tGc>tCc	p.C378S	SEMA6B_ENST00000301293.3_Missense_Mutation_p.C378S|SEMA6B_ENST00000586965.1_Missense_Mutation_p.C378S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	378	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C378S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGGCTGCGCAGCACCCGGG	0.602000													27	76					0	0	0.729181	0	0
APOB	338	broad.mit.edu	37	2	21239390	21239390	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:21239390C>T	ENST00000233242.1	-	21	3380	c.3253G>A	c.(3253-3255)Gag>Aag	p.E1085K		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1085					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E1085K(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTTGCCCTCAGTAGATTCA	0.453000													24	59					0	0	0.624587	0	0
INO80	54617	broad.mit.edu	37	15	41388034	41388034	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:41388034G>A	ENST00000361937.3	-	3	660	c.236C>T	c.(235-237)tCa>tTa	p.S79L	INO80_ENST00000401393.3_Missense_Mutation_p.S79L			Q9ULG1	INO80_HUMAN	INO80 complex subunit	79	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	p.S79L(2)		NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCAAGCAATGAATTTGGAGG	0.433000													27	71					0	0	0.681144	0	0
TLE3	7090	broad.mit.edu	37	15	70346924	70346924	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:70346924G>A	ENST00000558939.1	-	16	3065	c.1688C>T	c.(1687-1689)tCg>tTg	p.S563L	TLE3_ENST00000558379.1_Missense_Mutation_p.S558L|TLE3_ENST00000559191.1_Missense_Mutation_p.S144L|TLE3_ENST00000451782.2_Missense_Mutation_p.S560L|TLE3_ENST00000560589.1_Missense_Mutation_p.S507L|TLE3_ENST00000560939.1_Missense_Mutation_p.S565L|TLE3_ENST00000559929.1_Missense_Mutation_p.S573L|TLE3_ENST00000557907.1_Missense_Mutation_p.S555L|TLE3_ENST00000559048.1_Missense_Mutation_p.S563L|TLE3_ENST00000539550.1_Missense_Mutation_p.S490L|TLE3_ENST00000317509.8_Missense_Mutation_p.S551L|TLE3_ENST00000558201.1_Missense_Mutation_p.S569L|TLE3_ENST00000442299.2_Missense_Mutation_p.S555L|TLE3_ENST00000557997.1_Missense_Mutation_p.S555L|TLE3_ENST00000440567.3_Missense_Mutation_p.S553L	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	563					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.S563L(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGGCGTGGGCGAGGCCAGGTC	0.652000													13	30					0	0	0.411799	0	0
DUPD1	338599	broad.mit.edu	37	10	76797697	76797697	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:76797697C>T	ENST00000338487.5	-	3	559	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	187	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R187Q(1)		breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CAAAAAGCCCCGGTTCGGGAG	0.642000													32	87					0	0	0.750413	0	0
KCNH8	131096	broad.mit.edu	37	3	19492801	19492801	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:19492801A>G	ENST00000328405.2	+	10	1996	c.1730A>G	c.(1729-1731)tAt>tGt	p.Y577C	KCNH8_ENST00000537696.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	577						integral to membrane	two-component sensor activity	p.Y577C(1)		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						CCGGGGGAGTATCTGCTGCGT	0.512000													30	68					0	0	0.717897	0	0
CELF4	56853	broad.mit.edu	37	18	34839222	34839222	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr18:34839222C>G	ENST00000420428.2	-	11	1650	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	CELF4_ENST00000591287.1_Missense_Mutation_p.E417Q|CELF4_ENST00000412753.1_Missense_Mutation_p.E418Q|CELF4_ENST00000591282.1_Missense_Mutation_p.E419Q|CELF4_ENST00000603232.1_Missense_Mutation_p.E418Q|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000588597.1_Missense_Mutation_p.E407Q|CELF4_ENST00000601019.1_Missense_Mutation_p.E417Q|CELF4_ENST00000361795.5_Missense_Mutation_p.E417Q	NM_020180.3	NP_064565.1	Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	419	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.E419Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TTACAGCCCTCGGGCCCTGCG	0.612000													9	29					0	0	0.361761	0	0
SYNGR2	9144	broad.mit.edu	37	17	76167700	76167700	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:76167700C>T	ENST00000225777.3	+	3	506	c.447C>T	c.(445-447)atC>atT	p.I149I	SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000588282.1_Silent_p.I149I|SYNGR2_ENST00000585591.1_Silent_p.I149I|SYNGR2_ENST00000590201.1_Silent_p.I93I|SYNGR2_ENST00000589711.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2	149	MARVEL.					integral to plasma membrane		p.I149I(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			GGGCAGCCATCACCTTCAGCT	0.612000													23	51					0	0	0.729181	0	0
KMT2A	4297	broad.mit.edu	37	11	118376454	118376454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:118376454C>T	ENST00000534358.1	+	27	9870	c.9847C>T	c.(9847-9849)Cga>Tga	p.R3283*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.R3242*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.R3280*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A									p.R3283*(1)|p.R3280*(1)									TTCATCTCACCGAACTGTCCC	0.433000													49	70					0	0	0.870114	0	0
DYRK4	8798	broad.mit.edu	37	12	4722727	4722727	+	Silent	SNP	G	G	A	rs143171709		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:4722727G>A	ENST00000540757.2	+	13	1531	c.1371G>A	c.(1369-1371)acG>acA	p.T457T	DYRK4_ENST00000545342.1_Silent_p.T94T|DYRK4_ENST00000543431.1_Silent_p.T456T|RP11-500M8.7_ENST00000536588.1_Intron|DYRK4_ENST00000010132.5_Silent_p.T457T	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	457						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T858T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			ATAGCCCCACGAAGCATGTTC	0.473000													20	66					0	0	0.557998	0	0
RNF216	54476	broad.mit.edu	37	7	5663714	5663714	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5663714C>T	ENST00000425013.2	-	16	2478	c.2254G>A	c.(2254-2256)Gaa>Aaa	p.E752K	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.E809K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	752					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.E809K(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGTTCCTCTTCAGCCTCCTTC	0.547000													9	21					0	0	0.307466	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line).		interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								15	58					0	0	0.457914	0	0
TET3	200424	broad.mit.edu	37	2	74273845	74273845	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:74273845G>C	ENST00000409262.3	+	1	396	c.396G>C	c.(394-396)atG>atC	p.M132I		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	132							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.M132I(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCATGGTATGAAACCACCCA	0.632000													5	106					0	0	0.184627	0	0
EIF3A	8661	broad.mit.edu	37	10	120801973	120801973	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:120801973C>T	ENST00000369144.3	-	19	3186	c.3059G>A	c.(3058-3060)cGa>cAa	p.R1020Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R986Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1020	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	p.R1020Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCAGTCCTCGTCTAGGTGG	0.587000													87	212					0	0	0.870114	0	0
KMT2C	58508	broad.mit.edu	37	7	151860062	151860062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:151860062G>A	ENST00000355193.2	-	43	10818	c.10600C>T	c.(10600-10602)Cag>Tag	p.Q3534*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3534*					lysine (K)-specific methyltransferase 2C									p.Q3534*(2)									CCATGTCCCTGCTTCACAGAA	0.488000													52	106					0	0	0.870114	0	0
CRIPAK	285464	broad.mit.edu	37	4	1389009	1389009	+	Missense_Mutation	SNP	G	G	T	rs71299249		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:1389009G>T	ENST00000324803.4	+	1	3670	c.710G>T	c.(709-711)gGa>gTa	p.G237V		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	237					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	p.G237V(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCCGATGCGGAGTGCCCGCC	0.677000													24	156					5.04308e-16	5.41103e-16	0.819951	1	0
KDR	3791	broad.mit.edu	37	4	55961077	55961077	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:55961077T>A	ENST00000263923.4	-	21	3158	c.2863A>T	c.(2863-2865)Atc>Ttc	p.I955F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	955	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.I955F(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCACAGGGATTGCTCCAACG	0.463000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			24	61					0	0	0.639603	0	0
LRRN1	57633	broad.mit.edu	37	3	3887565	3887565	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:3887565T>A	ENST00000319331.3	+	2	2001	c.1240T>A	c.(1240-1242)Tta>Ata	p.L414I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	414	LRRCT.					integral to membrane		p.L414I(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GAAGGAAGTTTTAATCCAGGA	0.488000													39	93					0	0	0.853193	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102526629	102526629	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:102526629C>T	ENST00000321521.9	+	28	3949	c.3376C>T	c.(3376-3378)Ctt>Ttt	p.L1126F	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L1147F|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L1126F|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1147					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.L1126F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGATGAATTTCTTGCTTCCAT	0.373000													33	72					0	0	0.796494	0	0
C14orf159	80017	broad.mit.edu	37	14	91681828	91681828	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:91681828G>A	ENST00000518868.1	+	16	2334	c.1644G>A	c.(1642-1644)ctG>ctA	p.L548L	C14orf159_ENST00000428926.2_Silent_p.L543L|C14orf159_ENST00000522322.1_Silent_p.L543L|C14orf159_ENST00000523771.1_Silent_p.L543L|C14orf159_ENST00000520328.1_Silent_p.L491L|C14orf159_ENST00000412671.2_Silent_p.L548L|C14orf159_ENST00000521077.2_Silent_p.L508L|C14orf159_ENST00000256324.10_Silent_p.L548L|C14orf159_ENST00000525393.2_Silent_p.L419L|C14orf159_ENST00000523816.1_Silent_p.L543L			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	543						mitochondrion		p.L543L(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		GTCAGTACCTGAGGAAAGCAG	0.567000													44	126					0	0	0.870114	0	0
PHF19	26147	broad.mit.edu	37	9	123620306	123620306	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:123620306C>T	ENST00000373896.3	-	15	1911	c.1659G>A	c.(1657-1659)gaG>gaA	p.E553E	PHF19_ENST00000419155.1_Silent_p.E344E|PHF19_ENST00000487555.1_5'UTR	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.E553E(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTGGTACTTCTCCCCACAGG	0.572000													53	36					0	0	0.870114	0	0
TINAGL1	64129	broad.mit.edu	37	1	32043028	32043028	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:32043028C>T	ENST00000271064.7	+	2	355	c.279C>T	c.(277-279)ctC>ctT	p.L93L	TINAGL1_ENST00000441210.2_Silent_p.L93L|TINAGL1_ENST00000457433.2_Silent_p.L93L|TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000537531.1_Silent_p.L93L	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	93	SMB.				endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity	p.L93L(1)		breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ACTTCTGCCTCGGCGTGCCAC	0.607000													60	162					0	0	0.870114	0	0
AMER1	139285	broad.mit.edu	37	X	63413139	63413139	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:63413139G>A	ENST00000330258.3	-	2	300	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	AMER1_ENST00000374869.3_Nonsense_Mutation_p.Q10*|AMER1_ENST00000403336.1_Nonsense_Mutation_p.Q10*	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)|p.Q10*(4)									CCCTTGGCCTGAGCAGCTTCA	0.527000													42	36					0	0	0.840704	0	0
FOXM1	2305	broad.mit.edu	37	12	2967845	2967845	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:2967845C>T	ENST00000342628.2	-	10	2478	c.2365G>A	c.(2365-2367)Gac>Aac	p.D789N	FOXM1_ENST00000361953.3_Missense_Mutation_p.D736N|FOXM1_ENST00000359843.3_Missense_Mutation_p.D751N|ITFG2_ENST00000545509.1_Intron	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	751					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding	p.D789N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTGATGTTGTCAGGGCCCAGT	0.577000													26	62					0	0	0.693898	0	0
TBXAS1	6916	broad.mit.edu	37	7	139655334	139655334	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:139655334G>A	ENST00000263552.6	+	11	1157	c.619G>A	c.(619-621)Gag>Aag	p.E207K	TBXAS1_ENST00000425687.1_Missense_Mutation_p.E139K|TBXAS1_ENST00000414508.2_Missense_Mutation_p.E207K|TBXAS1_ENST00000458722.1_Missense_Mutation_p.E252K|TBXAS1_ENST00000411653.1_Missense_Mutation_p.E206K|TBXAS1_ENST00000448866.1_Missense_Mutation_p.E206K|TBXAS1_ENST00000416849.2_Missense_Mutation_p.E253K|TBXAS1_ENST00000336425.5_Missense_Mutation_p.E206K|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Missense_Mutation_p.E207K	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	206					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	p.E207K(1)|p.E253K(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					GCAGGCCCCTGAGGATCCCTT	0.577000													50	124					0	0	0.870114	0	0
ATG7	10533	broad.mit.edu	37	3	11354786	11354786	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:11354786G>C	ENST00000354449.3	+	6	445	c.420G>C	c.(418-420)aaG>aaC	p.K140N	ATG7_ENST00000354956.5_Missense_Mutation_p.K140N|ATG7_ENST00000446450.2_Intron	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	140					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.K140N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGATCTAAAGAAGTACCACT	0.373000													14	63					0	0	0.500413	0	0
EPHA1	2041	broad.mit.edu	37	7	143096426	143096426	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:143096426C>T	ENST00000275815.3	-	5	1002	c.916G>A	c.(916-918)Gag>Aag	p.E306K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	306	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E306*(4)|p.E306K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				GTGGCCCCCTCAGACTCAGCA	0.657000													32	75					0	0	0.750413	0	0
ADA	100	broad.mit.edu	37	20	43255222	43255222	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:43255222G>A	ENST00000372874.4	-	4	371	c.237C>T	c.(235-237)atC>atT	p.I79I	ADA_ENST00000537820.1_Silent_p.I79I	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	79					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	p.I79I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CGATCCTTTTGATAGCCTCCC	0.567000									Adenosine Deaminase Deficiency				29	79					0	0	0.779181	0	0
USP13	8975	broad.mit.edu	37	3	179460036	179460036	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:179460036G>A	ENST00000263966.3	+	12	1903	c.1432G>A	c.(1432-1434)Gaa>Aaa	p.E478K	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.E413K	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	478					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.E478K(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TTTTTTGGTGGAAGAACGCAT	0.488000													17	117					0	0	0.575678	0	0
VWA3B	200403	broad.mit.edu	37	2	98737802	98737802	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:98737802C>T	ENST00000477737.1	+	5	787	c.583C>T	c.(583-585)Cct>Tct	p.P195S	VWA3B_ENST00000435344.1_Missense_Mutation_p.P195S|VWA3B_ENST00000451075.2_Missense_Mutation_p.P45S	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	195								p.P195S(1)		NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						AAATGCTACTCCTGTGACCGA	0.537000													15	44					0	0	0.539581	0	0
TRIM37	4591	broad.mit.edu	37	17	57148206	57148206	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:57148206G>A	ENST00000376149.3	-	9	1230	c.421C>T	c.(421-423)Cct>Tct	p.P141S	TRIM37_ENST00000262294.7_Missense_Mutation_p.P263S|TRIM37_ENST00000393065.2_Missense_Mutation_p.P229S|TRIM37_ENST00000393066.3_Missense_Mutation_p.P263S			O94972	TRI37_HUMAN	tripartite motif containing 37	263						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding	p.P263S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGGAACAGGAGTGGTAACA	0.363000									Mulibrey Nanism				25	94					0	0	0.654019	0	0
CLN5	1203	broad.mit.edu	37	13	77574603	77574603	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:77574603C>G	ENST00000377453.3	+	4	2015	c.723C>G	c.(721-723)ttC>ttG	p.F241L		NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	192					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.F241L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		GAAACATGTTCAACCAAATGG	0.353000													16	44					0	0	0.575678	0	0
ATR	545	broad.mit.edu	37	3	142231262	142231262	+	Silent	SNP	T	T	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:142231262T>G	ENST00000350721.4	-	27	4813	c.4692A>C	c.(4690-4692)atA>atC	p.I1564I	ATR_ENST00000383101.3_Silent_p.I1500I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1564					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.I1564I(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CTTGGGTATTTATGGTATGCT	0.358000								Other conserved DNA damage response genes					49	166					0	0	0.870114	0	0
HRNR	388697	broad.mit.edu	37	1	152193724	152193724	+	Missense_Mutation	SNP	A	A	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:152193724A>T	ENST00000368801.2	-	3	456	c.381T>A	c.(379-381)ttT>ttA	p.F127L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	127					keratinization		calcium ion binding|protein binding	p.F127L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGAATGACTAAAAGAGGATT	0.438000													55	297					0	0	0.870114	0	0
SMOC2	64094	broad.mit.edu	37	6	169064768	169064768	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:169064768G>A	ENST00000354536.5	+	12	1553	c.1333G>A	c.(1333-1335)Gct>Act	p.A445T	SMOC2_ENST00000356284.2_Missense_Mutation_p.A434T|SMOC2_ENST00000477998.1_3'UTR	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	434					signal transduction	basement membrane	calcium ion binding	p.A445T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CAGAGGTCATGCTGAAAGTAC	0.299000													16	43					0	0	0.520397	0	0
GRID2	2895	broad.mit.edu	37	4	94693231	94693231	+	Missense_Mutation	SNP	A	A	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:94693231A>G	ENST00000282020.4	+	16	2864	c.2606A>G	c.(2605-2607)gAc>gGc	p.D869G	GRID2_ENST00000510992.1_Missense_Mutation_p.D774G	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	869					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.D869G(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCCAGGATGACAAGGAAATT	0.383000													18	67					0	0	0.575678	0	0
CDCA7L	55536	broad.mit.edu	37	7	21945945	21945945	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:21945945C>A	ENST00000406877.3	-	6	1162	c.883G>T	c.(883-885)Gaa>Taa	p.E295*	CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.E249*|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.E261*|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	295					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus		p.E295*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TAAAACTCTTCCGCAAATTTA	0.483000													54	145					1.14385e-22	1.24332e-22	0.870114	1	0
ARIH2OS	646450	broad.mit.edu	37	3	48956327	48956327	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48956327C>T	ENST00000408959.2	-	1	491	c.256G>A	c.(256-258)Gac>Aac	p.D86N	ARIH2_ENST00000356401.4_5'UTR|ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_5'UTR	NM_001123040.1	NP_001116512.1			ariadne homolog 2 opposite strand									p.D86N(1)									TGACCGGCGTCGGCCCGCCGC	0.721000													5	9					0	0	0.248553	0	0
EIF5A	1984	broad.mit.edu	37	17	7214697	7214697	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:7214697C>A	ENST00000336458.8	+	4	700	c.299C>A	c.(298-300)tCa>tAa	p.S100*	GPS2_ENST00000391950.3_3'UTR|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.S100*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000416016.2_Nonsense_Mutation_p.S100*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.S100*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.S130*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.S100*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	100					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	p.S130*(1)|p.S100*(1)		endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGGTACCTATCACTGCTCCAG	0.562000													26	136					1.66031e-10	1.73672e-10	0.667858	1	0
AFTPH	54812	broad.mit.edu	37	2	64779737	64779737	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:64779737G>C	ENST00000422803.1	+	2	1443	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	AFTPH_ENST00000409933.1_Missense_Mutation_p.D377H|AFTPH_ENST00000238855.7_Missense_Mutation_p.D377H|AFTPH_ENST00000238856.4_Missense_Mutation_p.D377H|AFTPH_ENST00000409183.1_Missense_Mutation_p.D8H			Q6ULP2	AFTIN_HUMAN	aftiphilin	377					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	p.D377H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TAAAACTTCTGATGATGAAGT	0.348000													30	78					0	0	0.729181	0	0
CREB3L3	84699	broad.mit.edu	37	19	4168358	4168358	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:4168358G>A	ENST00000078445.2	+	6	872	c.725G>A	c.(724-726)cGa>cAa	p.R242Q	CREB3L3_ENST00000602257.1_Missense_Mutation_p.R240Q|CREB3L3_ENST00000252587.3_Missense_Mutation_p.R182Q|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.R241Q	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	242					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R242Q(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TACGAGGAGCGAGTGCTGAAA	0.547000													12	46					0	0	0.435327	0	0
LILRA6	79168	broad.mit.edu	37	19	54745730	54745730	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:54745730G>A	ENST00000440558.2	-	4	428	c.380C>T	c.(379-381)tCa>tTa	p.S127L	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.S127L|LILRA6_ENST00000396365.2_Missense_Mutation_p.S127L|LILRA6_ENST00000245621.5_Missense_Mutation_p.S127L|LILRA6_ENST00000391735.3_Missense_Mutation_p.S127L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S127L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6									p.S127L(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGCAGGGCTGAGAGGGTGGG	0.562000													38	91					0	0	0.870114	0	0
ZMYM3	9203	broad.mit.edu	37	X	70470410	70470410	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:70470410C>T	ENST00000373998.1	-	5	1642	c.945G>A	c.(943-945)cgG>cgA	p.R315R	ZMYM3_ENST00000314425.5_Silent_p.R315R|ZMYM3_ENST00000353904.2_Silent_p.R315R|ZMYM3_ENST00000373982.1_Silent_p.R317R|ZMYM3_ENST00000373984.3_Silent_p.R317R|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000373981.1_Silent_p.R315R|ZMYM3_ENST00000373988.1_Silent_p.R317R	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	315					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.R315R(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGTGGTGTCCGGCAATGTG	0.622000													14	8					0	0	0.500413	0	0
TTLL2	83887	broad.mit.edu	37	6	167755005	167755005	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:167755005G>A	ENST00000239587.5	+	3	1705	c.1617G>A	c.(1615-1617)ccG>ccA	p.P539P		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	539					protein modification process		ATP binding|tubulin-tyrosine ligase activity	p.P539P(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGACCTCCCCGTGTGTCCTGT	0.542000													40	77					0	0	0.819951	0	0
ZNF207	7756	broad.mit.edu	37	17	30685544	30685544	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:30685544C>G	ENST00000394670.4	+	3	360	c.191C>G	c.(190-192)gCc>gGc	p.A64G	ZNF207_ENST00000341711.6_Intron|ZNF207_ENST00000321233.6_Missense_Mutation_p.A64G|ZNF207_ENST00000394673.2_Missense_Mutation_p.A64G|ZNF207_ENST00000342555.6_Missense_Mutation_p.A67G|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000577908.1_Missense_Mutation_p.A64G	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	64						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A64G(1)		breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ACAATAGATGCCGTACCAAAT	0.323000													24	90					0	0	0.681144	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778916	93778916	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:93778916C>T	ENST00000315765.9	+	2	256	c.248C>T	c.(247-249)aCg>aTg	p.T83M		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	83	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.T83M(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGACGCTTCACGGATGGAACC	0.453000													11	34					0	0	0.361761	0	0
HNF4G	3174	broad.mit.edu	37	8	76465276	76465276	+	Splice_Site	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:76465276G>A	ENST00000396423.2	+	5	583		c.e5-1		HNF4G_ENST00000354370.1_Splice_Site	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma						endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CTTAATACTAGATCTCAGTCT	0.348000													18	67					0	0	0.575678	0	0
FOCAD	54914	broad.mit.edu	37	9	20720513	20720513	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:20720513C>T	ENST00000380249.1	+	6	631	c.267C>T	c.(265-267)ctC>ctT	p.L89L	FOCAD_ENST00000338382.6_Silent_p.L89L	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	89						integral to membrane	binding	p.L89L(1)									ATGGGATACTCAACTTGATTC	0.408000													92	101					0	0	0.870114	0	0
CUL1	8454	broad.mit.edu	37	7	148484186	148484186	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:148484186G>A	ENST00000325222.4	+	13	1732	c.1453G>A	c.(1453-1455)Gaa>Aaa	p.E485K	CUL1_ENST00000602748.1_Missense_Mutation_p.E485K|CUL1_ENST00000409469.1_Missense_Mutation_p.E485K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	485					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.E485K(4)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGACGATGCCGAAGCCAGCAT	0.458000													21	54					0	0	0.624587	0	0
API5	8539	broad.mit.edu	37	11	43356859	43356859	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:43356859G>A	ENST00000378852.3	+	12	1435	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N	API5_ENST00000534600.1_Missense_Mutation_p.S437N|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000455725.2_Missense_Mutation_p.S426N|API5_ENST00000420461.2_Missense_Mutation_p.S383N|API5_ENST00000529334.1_3'UTR|API5_ENST00000531273.1_Missense_Mutation_p.S437N|API5_ENST00000534695.1_Intron	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	437					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.S437N(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						TCTTATAAGAGCACAGTAACA	0.383000													38	74					0	0	0.847076	0	0
MYH1	4619	broad.mit.edu	37	17	10419637	10419637	+	Missense_Mutation	SNP	T	T	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:10419637T>G	ENST00000226207.5	-	4	321	c.227A>C	c.(226-228)cAa>cCa	p.Q76P	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	76	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.Q76P(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGGGAAGACTTGGTCATCTTT	0.463000													56	232					0	0	0.870114	0	0
VCAM1	7412	broad.mit.edu	37	1	101194673	101194673	+	Silent	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:101194673T>C	ENST00000294728.2	+	5	1040	c.939T>C	c.(937-939)ttT>ttC	p.F313F	VCAM1_ENST00000370119.4_Silent_p.F251F|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	313	Ig-like C2-type 4.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.F313F(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGAAACCATTTACTGTTGAGA	0.413000													13	31					0	0	0.457914	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:104170392C>G	ENST00000374861.3	+	3	584	c.300C>G	c.(298-300)ttC>ttG	p.F100L	ZNF189_ENST00000339664.2_Missense_Mutation_p.F114L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F72L	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000													22	16					0	0	0.592651	0	0
SRRM2	23524	broad.mit.edu	37	16	2813979	2813979	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:2813979G>A	ENST00000301740.8	+	11	3999	c.3450G>A	c.(3448-3450)tcG>tcA	p.S1150S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1150	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.S1150S(2)		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						CAGTGGACTCGAATTCTCTCT	0.478000													35	129					0	0	0.788014	0	0
RNF216	54476	broad.mit.edu	37	7	5663694	5663694	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5663694C>A	ENST00000425013.2	-	16	2498	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.K815N	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	758					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.K815N(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCCTCCATTCTTTCTTTTCT	0.537000													10	21					7.48243e-07	7.63513e-07	0.335167	1	0
RBM10	8241	broad.mit.edu	37	X	47045533	47045533	+	Nonsense_Mutation	SNP	A	A	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:47045533A>T	ENST00000377604.3	+	22	3242	c.2500A>T	c.(2500-2502)Aag>Tag	p.K834*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.K756*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.K757*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	834					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.K834*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GCCAGAGCCCAAGAGGAGGAA	0.607000													22	18					0	0	0.681144	0	0
CLCNKB	1188	broad.mit.edu	37	1	16375484	16375484	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:16375484C>T	ENST00000375667.3	+	1	201	c.18C>T	c.(16-18)ctC>ctT	p.L6L	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)		GCCCTCCCCTCCTGTCTGTCC	0.697000													7	21					0	0	0.248553	0	0
FLT1	2321	broad.mit.edu	37	13	28897021	28897021	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:28897021C>T	ENST00000282397.4	-	21	3110	c.2859G>A	c.(2857-2859)aaG>aaA	p.K953K	FLT1_ENST00000540678.1_Silent_p.K171K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	953	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.K953K(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCTTGGTTTCTTGCCTTGTT	0.493000													66	151					0	0	0.870114	0	0
UGT1A3	54659	broad.mit.edu	37	2	234638460	234638460	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:234638460C>A	ENST00000482026.1	+	1	707	c.688C>A	c.(688-690)Cct>Act	p.P230T	UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P230T|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000373445.1_Intron														p.P230T(1)		breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TTTTTCTGCTCCTTATGCAAG	0.468000													86	263					2.05912e-35	2.27779e-35	0.870114	1	0
NID1	4811	broad.mit.edu	37	1	236208952	236208952	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:236208952G>C	ENST00000264187.6	-	3	639	c.557C>G	c.(556-558)tCt>tGt	p.S186C	NID1_ENST00000366595.3_Missense_Mutation_p.S186C	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	186	NIDO.				cell-matrix adhesion	basement membrane	calcium ion binding	p.S186C(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCTGGAATCAGAGGAGGCTAG	0.413000													17	65					0	0	0.500413	0	0
RFESD	317671	broad.mit.edu	37	5	94989768	94989768	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:94989768G>A	ENST00000458310.1	+	4	1493	c.162G>A	c.(160-162)atG>atA	p.M54I	SPATA9_ENST00000477047.2_Intron|RFESD_ENST00000513950.2_Start_Codon_SNP_p.M1I|RFESD_ENST00000380005.4_Missense_Mutation_p.M54I|RFESD_ENST00000311364.4_Start_Codon_SNP_p.M1I	NM_001131065.1	NP_001124537.1	Q8TAC1	RFESD_HUMAN	Rieske (Fe-S) domain containing	1	Rieske 1.|Rieske 2.						2 iron, 2 sulfur cluster binding|metal ion binding|oxidoreductase activity	p.M1I(1)|p.M54I(1)		autonomic_ganglia(2)|endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	6		all_cancers(142;0.000215)|all_epithelial(76;7.43e-07)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)|Colorectal(57;0.162)		all cancers(79;5.94e-17)		CAACTAGCATGAATCTTGATG	0.373000													14	47					0	0	0.479597	0	0
DHX36	170506	broad.mit.edu	37	3	154018909	154018909	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:154018909G>C	ENST00000496811.1	-	10	1305	c.1225C>G	c.(1225-1227)Cca>Gca	p.P409A	DHX36_ENST00000308361.6_Missense_Mutation_p.P409A|DHX36_ENST00000544526.1_Missense_Mutation_p.P409A|DHX36_ENST00000329463.5_Missense_Mutation_p.P409A	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	409						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P409A(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTGTTCTGGAACATACCTA	0.294000													37	134					0	0	0.788014	0	0
CTTN	2017	broad.mit.edu	37	11	70281229	70281229	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:70281229C>T	ENST00000301843.8	+	18	1820	c.1614C>T	c.(1612-1614)taC>taT	p.Y538Y	CTTN_ENST00000376561.3_Intron|CTTN_ENST00000538675.1_Intron|CTTN_ENST00000346329.3_Silent_p.Y501Y	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	538	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.Y538Y(1)|p.?(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AGGGCCGGTACGGGCTCTTCC	0.617000													32	58					0	0	0.750413	0	0
NIN	51199	broad.mit.edu	37	14	51226630	51226630	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:51226630C>T	ENST00000245441.5	-	17	2534	c.2344G>A	c.(2344-2346)Gag>Aag	p.E782K	NIN_ENST00000530997.2_Missense_Mutation_p.E782K|NIN_ENST00000382043.4_Missense_Mutation_p.E782K|NIN_ENST00000453196.1_Missense_Mutation_p.E782K|NIN_ENST00000382041.3_Missense_Mutation_p.E782K|NIN_ENST00000324330.9_Missense_Mutation_p.E782K|NIN_ENST00000389868.3_Missense_Mutation_p.E782K	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	782					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding	p.E782K(2)|p.E788K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTAACTCCTCTTTCTCAAGA	0.507000			T	PDGFRB	MPD								111	223					0	0	0.870114	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733572	56733572	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:56733572C>T	ENST00000587340.1	-	7	1558	c.863G>A	c.(862-864)aGa>aAa	p.R288K	ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R142K|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R288K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R287K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R171K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	288					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R288K(1)		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						AGCGTCTCCTCTGTTCCCGCT	0.537000													67	138					0	0	0.870114	0	0
ZBTB21	49854	broad.mit.edu	37	21	43413917	43413917	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr21:43413917C>T	ENST00000310826.5	-	3	471	c.288G>A	c.(286-288)aaG>aaA	p.K96K	ZBTB21_ENST00000398511.3_Silent_p.K96K|ZBTB21_ENST00000398499.1_Silent_p.K96K|ZBTB21_ENST00000398505.3_Silent_p.K96K|ZBTB21_ENST00000465968.1_Intron	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21									p.K96K(1)									CAAGGCTGCTCTTCTCAACAA	0.398000													16	38					0	0	0.500413	0	0
LILRB5	10990	broad.mit.edu	37	19	54754820	54754820	+	Missense_Mutation	SNP	T	T	G	rs429425	by1000genomes	TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:54754820T>G	ENST00000450632.1	-	13	1892	c.1815A>C	c.(1813-1815)ttA>ttC	p.L605F	LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	440					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)		GAGTGAGAGGTAAGGAACGTG	0.607000													6	74					0	0	0.278610	0	0
SH2D3A	10045	broad.mit.edu	37	19	6760801	6760801	+	Silent	SNP	C	C	T	rs143102735		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:6760801C>T	ENST00000245908.6	-	3	536	c.267G>A	c.(265-267)ccG>ccA	p.P89P	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	89	SH2.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.P89P(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GAACCAGAGCCGGTATGCTGG	0.632000													32	78					0	0	0.827153	0	0
SYNE1	23345	broad.mit.edu	37	6	152650896	152650896	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:152650896C>G	ENST00000367255.5	-	78	15525	c.14924G>C	c.(14923-14925)gGa>gCa	p.G4975A	SYNE1_ENST00000341594.5_Missense_Mutation_p.G4722A|SYNE1_ENST00000265368.4_Missense_Mutation_p.G4975A|SYNE1_ENST00000423061.1_Missense_Mutation_p.G4904A|SYNE1_ENST00000448038.1_Missense_Mutation_p.G4904A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4975					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	p.G4975A(2)|p.G4904A(1)		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)		CTGGATGTCTCCATCCAGCTC	0.463000										HNSCC(10;0.0054)			48	134					0	0	0.864702	0	0
SPOCD1	90853	broad.mit.edu	37	1	32264127	32264127	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:32264127G>T	ENST00000360482.2	-	8	2073	c.1944C>A	c.(1942-1944)ctC>ctA	p.L648L	SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000533231.1_Silent_p.L648L|SPOCD1_ENST00000257100.3_Silent_p.L141L	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	648	TFIIS central.				transcription, DNA-dependent			p.L648L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCAGGTCCCAGAGGGCTGCCT	0.642000													14	58					6.53275e-17	7.07008e-17	0.457914	1	0
MAGEE1	57692	broad.mit.edu	37	X	75650837	75650837	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chrX:75650837G>C	ENST00000361470.2	+	1	2792	c.2514G>C	c.(2512-2514)ttG>ttC	p.L838F		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	838	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.L838F(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						ACAACTTTTTGATGCAGGTCC	0.502000													11	14					0	0	0.387290	0	0
SLC16A14	151473	broad.mit.edu	37	2	230902218	230902218	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:230902218C>T	ENST00000295190.4	-	5	1869	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	471						integral to membrane|plasma membrane	symporter activity	p.D471N(1)		NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		AAGGAAAAATCATATTTTTGC	0.333000													32	42					0	0	0.760397	0	0
MED15	51586	broad.mit.edu	37	22	20939289	20939289	+	Missense_Mutation	SNP	G	G	A	rs147995933		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:20939289G>A	ENST00000263205.7	+	15	2020	c.1951G>A	c.(1951-1953)Ggc>Agc	p.G651S	MED15_ENST00000425759.2_Missense_Mutation_p.G500S|MED15_ENST00000292733.7_Missense_Mutation_p.G611S|MED15_ENST00000541476.1_Missense_Mutation_p.G585S|MED15_ENST00000382974.2_Missense_Mutation_p.G540S|MED15_ENST00000406969.1_Missense_Mutation_p.G585S|MED15_ENST00000542773.1_3'UTR	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	651					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.G611S(1)|p.G651S(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCCATTCACGGCCCACCCAT	0.657000													20	106					0	0	0.847076	0	0
TLR10	81793	broad.mit.edu	37	4	38777082	38777082	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:38777082C>T	ENST00000308973.4	-	4	735	c.130G>A	c.(130-132)Gca>Aca	p.A44T	TLR10_ENST00000508334.1_Missense_Mutation_p.A44T|TLR10_ENST00000361424.2_Missense_Mutation_p.A44T|TLR10_ENST00000506111.1_Missense_Mutation_p.A44T	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	44					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity	p.A44T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTCAAGTCTGCGGGAACCTTT	0.448000													19	42					0	0	0.575678	0	0
PLD4	122618	broad.mit.edu	37	14	105397201	105397201	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:105397201G>A	ENST00000540372.1	+	7	1053	c.861G>A	c.(859-861)caG>caA	p.Q287Q	PLD4_ENST00000392593.4_Silent_p.Q280Q			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	280					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity	p.Q263Q(1)|p.Q280Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCTGGCCTCAGAACTTCTCAT	0.567000													68	156					0	0	0.870114	0	0
BUB1B	701	broad.mit.edu	37	15	40500941	40500941	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:40500941G>A	ENST00000287598.6	+	16	2308	c.2113G>A	c.(2113-2115)Gag>Aag	p.E705K	BUB1B_ENST00000412359.3_Missense_Mutation_p.E719K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	705					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity	p.E705K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TCAAATTCCTGAGAAACTAGA	0.423000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				15	57					0	0	0.457914	0	0
STRA8	346673	broad.mit.edu	37	7	134927560	134927560	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:134927560C>A	ENST00000275764.3	+	3	286	c.286C>A	c.(286-288)Cat>Aat	p.H96N		NM_182489.1	NP_872295.1	Q7Z7C7	STRA8_HUMAN	stimulated by retinoic acid 8	96					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus		p.H96N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						GGCAAAGAGTCATATTCCAGA	0.483000													20	71					2.94398e-08	3.05392e-08	0.557998	1	0
TSNARE1	203062	broad.mit.edu	37	8	143436064	143436064	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:143436064G>A	ENST00000519651.1	-	2	125	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C	TSNARE1_ENST00000524325.1_Missense_Mutation_p.R8C|TSNARE1_ENST00000520166.1_Missense_Mutation_p.R8C|TSNARE1_ENST00000307180.3_Missense_Mutation_p.R8C			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	8					vesicle-mediated transport	integral to membrane		p.R8C(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCACCTCCACGGGCGATGGAT	0.612000													25	135					0	0	0.667858	0	0
CELSR2	1952	broad.mit.edu	37	1	109806818	109806818	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:109806818G>A	ENST00000271332.3	+	10	5181	c.5120G>A	c.(5119-5121)gGa>gAa	p.G1707E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1707	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.G1707E(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTGGCACTGGGAGCCAGCGGG	0.667000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	94					0	0	0.769981	0	0
C6orf165	154313	broad.mit.edu	37	6	88136336	88136336	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:88136336G>C	ENST00000507897.1	+	8	1016	c.933G>C	c.(931-933)aaG>aaC	p.K311N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.K311N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	311								p.K311N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TAAAATCAAAGATAGCGGTCC	0.363000													15	37					0	0	0.500413	0	0
GPR68	8111	broad.mit.edu	37	14	91700960	91700960	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:91700960G>A	ENST00000535815.1	-	2	775	c.435C>T	c.(433-435)atC>atT	p.I145I	GPR68_ENST00000531499.2_Silent_p.I145I|GPR68_ENST00000238699.3_Silent_p.I155I	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	145					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	p.I155I(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTTGGCCCAGATGACCACGC	0.627000													12	29					0	0	0.387290	0	0
THEMIS2	9473	broad.mit.edu	37	1	28212380	28212380	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:28212380G>A	ENST00000373921.3	+	6	1883	c.1879G>A	c.(1879-1881)Gat>Aat	p.D627N	THEMIS2_ENST00000373927.3_3'UTR|THEMIS2_ENST00000492877.1_3'UTR|THEMIS2_ENST00000328928.7_Missense_Mutation_p.D498N|THEMIS2_ENST00000373925.1_3'UTR	NM_001105556.1	NP_001099026.1			thymocyte selection associated family member 2									p.D627N(1)									TTTTGCAGATGATGATGAACA	0.463000													21	62					0	0	0.624587	0	0
SLC44A4	80736	broad.mit.edu	37	6	31838641	31838641	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:31838641G>A	ENST00000544672.1	-	10	953	c.657C>T	c.(655-657)ttC>ttT	p.F219F	SLC44A4_ENST00000375562.4_Silent_p.F253F|SLC44A4_ENST00000229729.6_Silent_p.F295F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	295						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.F295F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGTTGGTGGTGAAACCCAGCT	0.662000													39	95					0	0	0.847076	0	0
KMT2D	8085	broad.mit.edu	37	12	49424159	49424159	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:49424159G>A	ENST00000301067.7	-	42	13902	c.13903C>T	c.(13903-13905)Cag>Tag	p.Q4635*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D									p.Q4365*(1)|p.Q4635*(1)									ATCTTCTGCTGCACCGATGGG	0.627000													5	12					0	0	0.248553	0	0
KIF2B	84643	broad.mit.edu	37	17	51901324	51901324	+	Silent	SNP	G	G	A	rs139246128		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:51901324G>A	ENST00000268919.4	+	1	1086	c.930G>A	c.(928-930)acG>acA	p.T310T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	310	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T310T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTGGGAAGACGTACACCATGG	0.547000													64	70					0	0	0.870114	0	0
OR8K3	219473	broad.mit.edu	37	11	56086697	56086697	+	Missense_Mutation	SNP	T	T	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:56086697T>A	ENST00000312711.1	+	1	915	c.915T>A	c.(913-915)aaT>aaA	p.N305K		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N305K(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GGACATGGAATAACTTATGTA	0.328000													9	31					0	0	0.335167	0	0
RSRC2	65117	broad.mit.edu	37	12	122992836	122992836	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:122992836C>T	ENST00000331738.7	-	8	1109	c.964G>A	c.(964-966)Gct>Act	p.A322T	RSRC2_ENST00000392442.2_5'UTR|RSRC2_ENST00000354654.2_Missense_Mutation_p.A274T	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	322								p.A322T(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GGATTAACAGCGGCTGGGTTA	0.448000													20	97					0	0	0.667858	0	0
EZH1	2145	broad.mit.edu	37	17	40870014	40870014	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:40870014T>C	ENST00000428826.2	-	10	1124	c.1003A>G	c.(1003-1005)Aca>Gca	p.T335A	EZH1_ENST00000435174.1_Missense_Mutation_p.T196A|EZH1_ENST00000415827.2_Missense_Mutation_p.T326A|EZH1_ENST00000585893.1_Missense_Mutation_p.T295A|EZH1_ENST00000590078.1_Missense_Mutation_p.T265A|EZH1_ENST00000592743.1_Missense_Mutation_p.T335A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	335					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	p.T335A(1)		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)		AAGCAGTCTGTGCCACATGGT	0.428000													12	57					0	0	0.457914	0	0
FAM193A	8603	broad.mit.edu	37	4	2701583	2701583	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:2701583G>C	ENST00000324666.5	+	17	3162	c.2811G>C	c.(2809-2811)aaG>aaC	p.K937N	FAM193A_ENST00000502458.1_Missense_Mutation_p.K959N|FAM193A_ENST00000505311.1_Missense_Mutation_p.K937N|FAM193A_ENST00000545951.1_Missense_Mutation_p.K937N|FAM193A_ENST00000382839.3_Missense_Mutation_p.K937N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	937	Poly-Lys.							p.K937N(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						AAAAGAAGAAGAAGGAGAGGC	0.478000													28	74					0	0	0.740014	0	0
UPP2	151531	broad.mit.edu	37	2	158980394	158980394	+	Silent	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:158980394C>G	ENST00000605860.1	+	9	1015	c.969C>G	c.(967-969)ctC>ctG	p.L323L	UPP2_ENST00000005756.4_Silent_p.L266L|UPP2_ENST00000409859.4_Silent_p.L323L|UPP2_ENST00000460456.1_3'UTR			O95045	UPP2_HUMAN	uridine phosphorylase 2	266					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	p.L266L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						TGTGTGGACTCTGTGGTCTAA	0.388000													36	102					0	0	0.834066	0	0
MYH2	4620	broad.mit.edu	37	17	10442618	10442618	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:10442618C>T	ENST00000245503.5	-	14	1704	c.1320G>A	c.(1318-1320)ctG>ctA	p.L440L	MYH2_ENST00000532183.2_Silent_p.L440L|MYH2_ENST00000397183.2_Silent_p.L440L|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	440	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L440L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAACCATCCACAGGAACATCT	0.473000													47	247					0	0	0.870114	0	0
CELSR3	1951	broad.mit.edu	37	3	48698817	48698817	+	Silent	SNP	C	C	T	rs111946927		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:48698817C>T	ENST00000544264.1	-	1	1531	c.1251G>A	c.(1249-1251)acG>acA	p.T417T	CELSR3_ENST00000164024.4_Silent_p.T417T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	417	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.T417T(2)|p.M418L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGCCACCATCGTGGTGGCCG	0.657000													17	56					0	0	0.592651	0	0
RIMBP3	85376	broad.mit.edu	37	22	20457929	20457929	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:20457929C>T	ENST00000426804.1	-	1	3857	c.3373G>A	c.(3373-3375)Ggt>Agt	p.G1125S		NM_015672.1	NP_056487.1			RIMS binding protein 3									p.G1125S(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ACAGCATAACCGGTGACCTGG	0.592000													4	28					0	0	0.248553	0	0
FAM63B	54629	broad.mit.edu	37	15	59146724	59146724	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr15:59146724C>G	ENST00000559228.1	+	9	1863	c.1781C>G	c.(1780-1782)tCt>tGt	p.S594C	FAM63B_ENST00000450403.2_Missense_Mutation_p.S593C			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	594								p.S594C(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GGAAGACAATCTGGGAATAGT	0.378000													22	59					0	0	0.624587	0	0
OR10S1	219873	broad.mit.edu	37	11	123848195	123848195	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:123848195G>C	ENST00000531945.1	-	1	293	c.204C>G	c.(202-204)ctC>ctG	p.L68L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L68L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGGTAAGCTGAGGTGAGAGT	0.542000													7	35					0	0	0.248553	0	0
ASF1A	25842	broad.mit.edu	37	6	119226948	119226948	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:119226948G>A	ENST00000229595.5	+	3	551	c.357G>A	c.(355-357)gaG>gaA	p.E119E	MCM9_ENST00000316316.6_Intron	NM_014034.2	NP_054753.1	Q9Y294	ASF1A_HUMAN	anti-silencing function 1A histone chaperone	119	Interaction with histone H3, CHAF1B, and HIRA.				chromatin modification|DNA repair|loss of chromatin silencing|nucleosome assembly|transcription, DNA-dependent	chromatin remodeling complex	chromatin binding|histone binding	p.E119E(1)		endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0633)|OV - Ovarian serous cystadenocarcinoma(136;0.188)		AATATACTGAGACAGAATTAA	0.323000													33	73					0	0	0.740014	0	0
CRX	1406	broad.mit.edu	37	19	48343102	48343102	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:48343102G>A	ENST00000221996.7	+	4	984	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	CRX_ENST00000539067.1_Missense_Mutation_p.A260T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	260					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A260T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCTATGGCGCCTACAGCCC	0.632000													99	236					0	0	0.870114	0	0
AP2S1	1175	broad.mit.edu	37	19	47349397	47349397	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:47349397G>A	ENST00000263270.6	-	2	231	c.6C>T	c.(4-6)atC>atT	p.I2I	AP2S1_ENST00000599990.1_Silent_p.I4I|AP2S1_ENST00000601649.1_Silent_p.I2I|AP2S1_ENST00000352203.4_Silent_p.I2I|AP2S1_ENST00000597020.1_5'UTR|AP2S1_ENST00000593442.1_Intron|AP2S1_ENST00000601498.1_Silent_p.I18I	NM_004069.3	NP_004060.2	P53680	AP2S1_HUMAN	adaptor-related protein complex 2, sigma 1 subunit	2					axon guidance|clathrin coat assembly|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|regulation of endocytosis|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	protein transporter activity	p.I2I(1)		central_nervous_system(1)|lung(1)|urinary_tract(1)	3		all_cancers(25;1.24e-06)|all_epithelial(76;1.09e-05)|all_lung(116;0.00019)|Lung NSC(112;0.000601)|Ovarian(192;0.0221)|all_neural(266;0.0459)|Breast(70;0.128)		OV - Ovarian serous cystadenocarcinoma(262;3.86e-05)|all cancers(93;0.000107)|Epithelial(262;0.00325)|GBM - Glioblastoma multiforme(486;0.0336)		GGATAAAGCGGATCTGGGGGC	0.597000													18	50					0	0	0.592651	0	0
TPGS2	25941	broad.mit.edu	37	18	34387820	34387820	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr18:34387820C>T	ENST00000334295.4	-	3	670	c.243G>A	c.(241-243)gtG>gtA	p.V81V	TPGS2_ENST00000587129.1_Silent_p.V81V|TPGS2_ENST00000383056.3_Silent_p.V81V|TPGS2_ENST00000593035.1_Silent_p.V81V|TPGS2_ENST00000589049.1_Silent_p.V81V|TPGS2_ENST00000590842.1_Silent_p.V81V	NM_015476.2	NP_056291.2	Q68CL5	TPGS2_HUMAN	tubulin polyglutamylase complex subunit 2	81						cytoplasm|microtubule		p.V81V(1)									catccagcttcACACTCCATG	0.453000													33	66					0	0	0.769981	0	0
CREBBP	1387	broad.mit.edu	37	16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						6	10					0	0	0.217242	0	0
ZNF517	340385	broad.mit.edu	37	8	146033636	146033636	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr8:146033636C>T	ENST00000359971.3	+	5	1442	c.1335C>T	c.(1333-1335)ctC>ctT	p.L445L	ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Silent_p.L445L	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L445L(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			ACTACCGGCTCCACAGCGGCG	0.682000													11	13					0	0	0.435327	0	0
TCF25	22980	broad.mit.edu	37	16	89977011	89977011	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:89977011C>G	ENST00000263346.8	+	17	1868	c.1812C>G	c.(1810-1812)atC>atG	p.I604M	RP11-566K11.7_ENST00000570217.1_RNA|TCF25_ENST00000263347.7_Missense_Mutation_p.Q409E	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	604					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.I604M(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TAAGTCCTATCAGCCATGGAA	0.557000											OREG0024057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	90					0	0	0.624587	0	0
KIF18A	81930	broad.mit.edu	37	11	28090880	28090880	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:28090880C>G	ENST00000263181.6	-	11	1806	c.1516G>C	c.(1516-1518)Gat>Cat	p.D506H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	506					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.D506H(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTATTCTCATCAAATTGCTTC	0.413000													24	58					0	0	0.654019	0	0
SGSM2	9905	broad.mit.edu	37	17	2265472	2265472	+	Silent	SNP	C	C	T	rs113450178		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:2265472C>T	ENST00000268989.3	+	4	543	c.366C>T	c.(364-366)ctC>ctT	p.L122L	SGSM2_ENST00000426855.2_Silent_p.L122L|SGSM2_ENST00000574563.1_Silent_p.L122L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	122	RUN.					intracellular	Rab GTPase activator activity	p.L122L(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCCCGGCCCTCAGCCCTCAGG	0.642000													109	125					0	0	0.870114	0	0
CACNA1S	779	broad.mit.edu	37	1	201056980	201056980	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:201056980G>A	ENST00000362061.3	-	7	1204	c.978C>T	c.(976-978)ctC>ctT	p.L326L	CACNA1S_ENST00000367338.3_Silent_p.L326L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	326					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.L326L(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCACCAGGTTGAGGATGAAGA	0.502000													11	81					0	0	0.387290	0	0
EPHA1	2041	broad.mit.edu	37	7	143096402	143096402	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:143096402C>T	ENST00000275815.3	-	5	1026	c.940G>A	c.(940-942)Gag>Aag	p.E314K		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	314	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.E314K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TGGCCGCTCTCACAGGTACAG	0.657000													47	87					0	0	0.853193	0	0
KIAA1551	55196	broad.mit.edu	37	12	32138214	32138214	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:32138214G>A	ENST00000312561.4	+	4	4739	c.4325G>A	c.(4324-4326)aGa>aAa	p.R1442K	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639			KIAA1551									p.R1442K(1)									AAATTTAGTAGAATTCTAACT	0.358000													32	99					0	0	0.779181	0	0
OR8B4	283162	broad.mit.edu	37	11	124294748	124294748	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:124294748G>A	ENST00000356130.3	-	1	41	c.20C>T	c.(19-21)tCc>tTc	p.S7F		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S7F(1)		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)		AGTCACTGAGGAGCTGTTTCT	0.483000													6	17					0	0	0.248553	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													15	28					0	0	0.539581	0	0
ACTL6A	86	broad.mit.edu	37	3	179291159	179291159	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:179291159G>A	ENST00000429709.2	+	4	493	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E52K|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E52K	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	94					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding	p.E94K(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TATTCTAGTTGAAGACTGGGA	0.343000													27	120					0	0	0.667858	0	0
SNAPC4	6621	broad.mit.edu	37	9	139273744	139273744	+	Silent	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:139273744G>C	ENST00000298532.2	-	21	2903	c.2535C>G	c.(2533-2535)ctC>ctG	p.L845L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	845					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.L845L(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTTTGGGAAGAGGTGGCCTG	0.637000													13	17					0	0	0.411799	0	0
BPIFB4	149954	broad.mit.edu	37	20	31699226	31699226	+	Silent	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr20:31699226T>C	ENST00000375483.3	+	16	1828	c.1828T>C	c.(1828-1830)Ttg>Ctg	p.L610L	BPIFB4_ENST00000494121.1_3'UTR	NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	610						cytoplasm|extracellular region	lipid binding	p.L571L(1)									CAAGGACCTTTTGGTGCTGAG	0.587000													22	47					0	0	0.639603	0	0
SLC38A6	145389	broad.mit.edu	37	14	61486269	61486269	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr14:61486269C>A	ENST00000354886.2	+	5	538	c.374C>A	c.(373-375)gCa>gAa	p.A125E	SLC38A6_ENST00000456840.2_Missense_Mutation_p.A102E|SLC38A6_ENST00000267488.4_Missense_Mutation_p.A125E	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	125					amino acid transport|sodium ion transport	integral to membrane		p.A125E(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		TTGGTGGTGGCAGGCACCATA	0.313000													44	105					2.13384e-23	2.32952e-23	0.870114	1	0
IRF7	3665	broad.mit.edu	37	11	612784	612784	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:612784C>A	ENST00000397566.1	-	9	1821	c.1412G>T	c.(1411-1413)tGc>tTc	p.C471F	IRF7_ENST00000525445.1_Missense_Mutation_p.C352F|IRF7_ENST00000348655.6_Missense_Mutation_p.C429F|IRF7_ENST00000397570.1_Missense_Mutation_p.C429F|IRF7_ENST00000330243.5_Missense_Mutation_p.C471F|IRF7_ENST00000397562.3_Missense_Mutation_p.C165F|IRF7_ENST00000397574.2_Missense_Mutation_p.C458F	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	458					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.C471F(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGCACTCGGCACAGCCAGGG	0.672000													22	52					3.6726e-16	3.95755e-16	0.667858	1	0
RNF216	54476	broad.mit.edu	37	7	5662766	5662766	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:5662766C>G	ENST00000425013.2	-	17	2550	c.2326G>C	c.(2326-2328)Gag>Cag	p.E776Q	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.E833Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	776	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.E833Q(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCACCTTCTCCACAGGCTTC	0.577000													23	66					0	0	0.681144	0	0
CAPN15	6650	broad.mit.edu	37	16	601635	601635	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:601635C>T	ENST00000219611.2	+	9	2679	c.2316C>T	c.(2314-2316)gtC>gtT	p.V772V	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1			calpain 15									p.V772V(1)									GTGAGGGTGTCTTCTGGATGG	0.672000													30	55					0	0	0.760397	0	0
KMT2B	9757	broad.mit.edu	37	19	36221009	36221009	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:36221009G>A	ENST00000420124.1	+	23	5059	c.5059G>A	c.(5059-5061)Gat>Aat	p.D1687N	KMT2B_ENST00000222270.7_Missense_Mutation_p.D1687N|KMT2B_ENST00000607650.1_RNA					lysine (K)-specific methyltransferase 2B									p.D1689N(1)									GAAACACACTGATCTCCTGGA	0.587000													8	21					0	0	0.335167	0	0
ATP13A2	23400	broad.mit.edu	37	1	17330838	17330838	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:17330838G>A	ENST00000452699.1	-	6	720	c.531C>T	c.(529-531)ttC>ttT	p.F177F	ATP13A2_ENST00000341676.5_Silent_p.F177F|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Silent_p.F182F	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	182					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.F182F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGACCTGGTAGAAGGCTTGCT	0.607000													7	31					0	0	0.307466	0	0
PKD1	5310	broad.mit.edu	37	16	2155925	2155925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:2155925G>A	ENST00000262304.4	-	20	8012	c.7804C>T	c.(7804-7806)Cag>Tag	p.Q2602*	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q2602*	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2602	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.Q2602*(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGATCGGCCTGCCGCAGCAGC	0.657000													20	51					0	0	0.557998	0	0
MTPAP	55149	broad.mit.edu	37	10	30602779	30602779	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:30602779C>T	ENST00000358107.4	-	10	1897	c.1898G>A	c.(1897-1899)cGa>cAa	p.R633Q	MTPAP_ENST00000263063.4_Missense_Mutation_p.R503Q|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	503					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding	p.R503Q(2)|p.R633Q(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGCACTTTCTCGGGCCAAATC	0.428000													57	141					0	0	0.870114	0	0
PLCD3	113026	broad.mit.edu	37	17	43195396	43195396	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:43195396C>T	ENST00000322765.5	-	7	1338	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	409	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.D409N(2)		breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	TGGACCACGTCCCGGAAGAGA	0.657000													8	31					0	0	0.278610	0	0
MSH5-SAPCD1	100532732	broad.mit.edu	37	6	31727896	31727896	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:31727896C>A	ENST00000493662.2	+	19	1822	c.1766C>A	c.(1765-1767)aCc>aAc	p.T589N	MSH5_ENST00000395853.1_Missense_Mutation_p.T246N|MSH5_ENST00000375703.3_Missense_Mutation_p.T572N|MSH5_ENST00000375750.3_Missense_Mutation_p.T572N|MSH5_ENST00000534153.4_Missense_Mutation_p.T589N|MSH5_ENST00000375742.3_Missense_Mutation_p.T589N|MSH5_ENST00000375740.3_Missense_Mutation_p.T589N|MSH5_ENST00000375755.3_Missense_Mutation_p.T572N|MSH5_ENST00000431848.2_Missense_Mutation_p.T271N														p.T589N(1)|p.T572N(1)									TGTGCCCGAACCTTTGTGCCC	0.532000													78	169					9.34078e-37	1.03786e-36	0.870114	1	0
LAMB2	3913	broad.mit.edu	37	3	49166159	49166159	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:49166159C>G	ENST00000418109.1	-	15	1989	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.E609Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	609	Laminin IV type B.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	p.E609Q(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCAGGAACTCCAGGGTCTGA	0.607000													47	105					0	0	0.870114	0	0
CCDC60	160777	broad.mit.edu	37	12	119942996	119942996	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr12:119942996G>T	ENST00000327554.2	+	7	1236	c.771G>T	c.(769-771)gtG>gtT	p.V257V	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	257								p.V257V(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TGATCTCTGTGAACCCTGGCT	0.577000													86	274					2.79443e-65	3.11878e-65	0.870114	1	0
FJX1	24147	broad.mit.edu	37	11	35640755	35640755	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:35640755G>A	ENST00000317811.4	+	1	1021	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)	191						extracellular space		p.E191K(2)		lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GATTCAGGGCGAGGCCCTGTC	0.731000													3	5					0	0	0.150653	0	0
SGOL1	151648	broad.mit.edu	37	3	20218129	20218129	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:20218129C>T	ENST00000412997.1	-	5	790	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	SGOL1_ENST00000429446.3_Missense_Mutation_p.E147K|SGOL1_ENST00000443724.1_Missense_Mutation_p.E147K|SGOL1_ENST00000417364.1_Missense_Mutation_p.E147K|SGOL1_ENST00000383774.1_Missense_Mutation_p.E147K|SGOL1_ENST00000452020.1_Missense_Mutation_p.E147K|SGOL1_ENST00000306698.2_Missense_Mutation_p.E147K|SGOL1_ENST00000437051.1_Missense_Mutation_p.E147K|SGOL1_ENST00000425061.1_Missense_Mutation_p.E147K|SGOL1_ENST00000263753.4_Missense_Mutation_p.E147K|SGOL1_ENST00000412868.1_Missense_Mutation_p.E147K|SGOL1_ENST00000442720.1_Missense_Mutation_p.E147K|SGOL1_ENST00000419233.2_Missense_Mutation_p.E147K|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000421451.1_Missense_Mutation_p.E147K|SGOL1-AS1_ENST00000441442.1_RNA	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	147	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	p.E147K(1)		kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CCTGGAAGTTCAGTTTCTTCA	0.254000													11	46					0	0	0.411799	0	0
BOD1L1	259282	broad.mit.edu	37	4	13602850	13602850	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:13602850C>T	ENST00000040738.5	-	10	5809	c.5674G>A	c.(5674-5676)Gaa>Aaa	p.E1892K		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1892							DNA binding	p.E1892K(1)									CCTTCACTTTCTTCTCCTAAC	0.483000													41	105					0	0	0.840704	0	0
SRPRB	58477	broad.mit.edu	37	3	133534474	133534474	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:133534474G>A	ENST00000466490.2	+	6	736	c.451G>A	c.(451-453)Gag>Aag	p.E151K		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	151						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity	p.E151K(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						ATTCCAGCGAGAGGTGAAAGA	0.433000													216	164					0	0	0.870114	0	0
MASP1	5648	broad.mit.edu	37	3	186954017	186954017	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:186954017G>A	ENST00000296280.6	-	11	1867	c.1642C>T	c.(1642-1644)Caa>Taa	p.Q548*	MASP1_ENST00000495249.1_5'UTR|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Nonsense_Mutation_p.Q435*	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	547	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	p.Q548*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTGTAGTTTTGGATGTTGAAG	0.582000													129	86					0	0	0.870114	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561631	11561631	+	Missense_Mutation	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:11561631G>T	ENST00000294484.6	+	2	720	c.582G>T	c.(580-582)aaG>aaT	p.K194N	PTCHD2_ENST00000389575.3_Missense_Mutation_p.K194N	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	194					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.K411N(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CGGCTCAAAAGCCCACAGCCA	0.697000													8	12					0.00448238	0.00451853	0.307466	1	0
GTSE1	51512	broad.mit.edu	37	22	46722532	46722532	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:46722532C>T	ENST00000454366.1	+	9	1917	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	550					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.R569C(1)|p.R550C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCTGAGCCCCGCAAGAACTC	0.562000													11	62					0	0	0.575678	0	0
PHIP	55023	broad.mit.edu	37	6	79727268	79727268	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr6:79727268G>A	ENST00000275034.4	-	11	1194	c.1027C>T	c.(1027-1029)Cat>Tat	p.H343Y		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	343					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	p.H343Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CGAATAATATGATCTGTGCTT	0.323000													18	39					0	0	0.575678	0	0
IL6ST	3572	broad.mit.edu	37	5	55247891	55247891	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr5:55247891C>G	ENST00000381298.2	-	13	1877	c.1565G>C	c.(1564-1566)gGa>gCa	p.G522A	IL6ST_ENST00000502326.3_Missense_Mutation_p.G522A|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381294.3_Missense_Mutation_p.G461A|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.G522A|IL6ST_ENST00000536319.1_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	522	Fibronectin type-III 5.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	p.G522A(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AACAGTAGGTCCTTTGGAAGG	0.348000			O		hepatocellular ca								25	49					0	0	0.693898	0	0
KLHDC4	54758	broad.mit.edu	37	16	87743101	87743101	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr16:87743101C>A	ENST00000270583.5	-	10	1275	c.1217G>T	c.(1216-1218)gGc>gTc	p.G406V	KLHDC4_ENST00000353170.5_Missense_Mutation_p.G349V|KLHDC4_ENST00000566349.1_5'UTR|KLHDC4_ENST00000347925.5_Missense_Mutation_p.G375V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	406								p.G406V(1)		breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		CCCCGCCGAGCCTGGCGCGGT	0.697000													13	37					3.51602e-12	3.72459e-12	0.575678	1	0
SH3BP4	23677	broad.mit.edu	37	2	235962412	235962412	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:235962412G>A	ENST00000409212.1	+	6	3351	c.2844G>A	c.(2842-2844)ctG>ctA	p.L948L	SH3BP4_ENST00000392011.2_Silent_p.L948L|SH3BP4_ENST00000344528.4_Silent_p.L948L			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	948					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.L948L(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TGGACGTTCTGAGAGCAGCCG	0.597000													75	176					0	0	0.870114	0	0
NBEA	26960	broad.mit.edu	37	13	35619479	35619479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:35619479C>T	ENST00000540320.1	+	4	1198	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	NBEA_ENST00000310336.4_Nonsense_Mutation_p.Q222*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.Q222*|NBEA_ENST00000400445.3_Nonsense_Mutation_p.Q222*			Q8NFP9	NBEA_HUMAN	neurobeachin	222						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.Q222*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTTCTTAATCAGATGCCACA	0.323000													7	14					0	0	0.248553	0	0
ZNF790	388536	broad.mit.edu	37	19	37310567	37310567	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr19:37310567C>G	ENST00000356725.4	-	5	799	c.679G>C	c.(679-681)Gaa>Caa	p.E227Q	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E227Q(1)		biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCTTTACATTCATATGTTTTC	0.348000													27	53					0	0	0.706142	0	0
TP53I3	9540	broad.mit.edu	37	2	24305998	24305998	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:24305998G>A	ENST00000238721.4	-	2	1017	c.163C>T	c.(163-165)Cca>Tca	p.P55S	FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000407482.1_Missense_Mutation_p.P55S|TP53I3_ENST00000313482.4_Missense_Mutation_p.P55S|TP53I3_ENST00000417886.1_5'UTR|TP53I3_ENST00000335934.4_Missense_Mutation_p.P55S	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	55					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding	p.P55S(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCTCCTGGAGGTGGGTCA	0.562000													60	145					0	0	0.870114	0	0
RGP1	9827	broad.mit.edu	37	9	35752111	35752111	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr9:35752111C>T	ENST00000378078.4	+	8	1062	c.921C>T	c.(919-921)ctC>ctT	p.L307L	RGP1_ENST00000456972.2_Silent_p.L347L	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	307								p.L307L(1)|p.L347L(1)		cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAATCCCTCTCAGCTCCACCC	0.567000													24	16					0	0	0.681144	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261650	39261650	+	Missense_Mutation	SNP	T	T	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:39261650T>C	ENST00000391415.1	+	1	67	c.10T>C	c.(10-12)Tcc>Ccc	p.S4P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	4						keratin filament		p.S4P(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						CATGGTCAGCTCCTGTTGTGG	0.592000													9	28					0	0	0.520397	0	0
GLB1	2720	broad.mit.edu	37	3	33038825	33038825	+	Missense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr3:33038825C>A	ENST00000307363.5	-	16	1890	c.1746G>T	c.(1744-1746)tgG>tgT	p.W582C	GLB1_ENST00000399402.3_Missense_Mutation_p.W552C|GLB1_ENST00000445488.2_Missense_Mutation_p.W630C|GLB1_ENST00000307377.8_Missense_Mutation_p.W451C	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	582					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding	p.W582C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				AGCCATTAATCCAGACCTGGC	0.597000													18	40					1.56452e-12	1.66439e-12	0.557998	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156723403	156723403	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr4:156723403C>T	ENST00000507146.1	+	11	1510	c.1010C>T	c.(1009-1011)aCg>aTg	p.T337M	GUCY1B3_ENST00000505764.1_Intron|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000264424.8_Intron|GUCY1B3_ENST00000513437.1_Intron|GUCY1B3_ENST00000502959.1_Intron|GUCY1B3_ENST00000503520.1_Intron			Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	392					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAAGTACAAACGACACTGATG	0.378000													9	6					0	0	0.307466	0	0
MICALL1	85377	broad.mit.edu	37	22	38327931	38327931	+	Silent	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:38327931C>T	ENST00000215957.6	+	10	2133	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	669						cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.I669I(1)		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)					TTCCACTCATCAAACGCAAGG	0.642000													31	65					0	0	0.804634	0	0
MAGI2	9863	broad.mit.edu	37	7	77885323	77885323	+	Missense_Mutation	SNP	C	C	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:77885323C>T	ENST00000354212.4	-	10	2237	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I	MAGI2_ENST00000536571.1_Missense_Mutation_p.V494I|MAGI2_ENST00000535697.1_Missense_Mutation_p.V499I|MAGI2_ENST00000419488.1_Missense_Mutation_p.V662I|MAGI2_ENST00000522391.1_Missense_Mutation_p.V662I	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	662	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding	p.V662I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATATCCACTACTTCTGTATGG	0.438000													12	26					0	0	0.387290	0	0
GPR37	2861	broad.mit.edu	37	7	124404704	124404704	+	Silent	SNP	G	G	T			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:124404704G>T	ENST00000303921.2	-	1	977	c.327C>A	c.(325-327)ccC>ccA	p.P109P		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	109						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity	p.P109P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAGGTCCCGGGGGTCCGGCTG	0.726000													24	48					1.66031e-10	1.73672e-10	0.667858	1	0
BEST1	7439	broad.mit.edu	37	11	61729849	61729849	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:61729849C>G	ENST00000449131.2	+	9	1129	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	BEST1_ENST00000534553.1_3'UTR|BEST1_ENST00000378042.3_Nonsense_Mutation_p.S321*|BEST1_ENST00000378043.4_Nonsense_Mutation_p.S408*|BEST1_ENST00000435278.2_3'UTR|BEST1_ENST00000301774.9_Nonsense_Mutation_p.S36*|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	408					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity	p.S408*(1)|p.S348*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						AGGGCAAACTCAAGGACCAAA	0.577000													22	62					0	0	0.608945	0	0
CELSR2	1952	broad.mit.edu	37	1	109806952	109806952	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr1:109806952G>A	ENST00000271332.3	+	10	5315	c.5254G>A	c.(5254-5256)Ggc>Agc	p.G1752S		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1752	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.G1752S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TGGGCCAGCCGGCGGTGTGGC	0.667000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	111					0	0	0.847076	0	0
PAX4	5078	broad.mit.edu	37	7	127255253	127255253	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:127255253G>C	ENST00000463946.1	-	1	471	c.11C>G	c.(10-12)tCc>tGc	p.S4C	PAX4_ENST00000341640.2_Intron|PAX4_ENST00000338516.3_Intron|PAX4_ENST00000378740.2_Intron			O43316	PAX4_HUMAN	paired box 4	102					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGACTTACTGGACCAGGCCAT	0.572000													14	31					0	0	0.435327	0	0
DNAH2	146754	broad.mit.edu	37	17	7702000	7702000	+	Silent	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:7702000G>A	ENST00000572933.1	+	55	9983	c.8523G>A	c.(8521-8523)gaG>gaA	p.E2841E	DNAH2_ENST00000389173.2_Silent_p.E2841E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2841	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E2841E(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTCAGGCGAGGTGCCCAATC	0.512000													82	74					0	0	0.870114	0	0
KMT2C	58508	broad.mit.edu	37	7	151855998	151855998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:151855998C>A	ENST00000355193.2	-	44	11838	c.11620G>T	c.(11620-11622)Gag>Tag	p.E3874*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E3874*					lysine (K)-specific methyltransferase 2C									p.E3874*(2)									GCTTGTTTCTCCTCTTCGTCC	0.458000													102	276					2.43152e-32	2.67788e-32	0.870114	1	0
MINPP1	9562	broad.mit.edu	37	10	89268152	89268152	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr10:89268152G>C	ENST00000371996.4	+	2	738	c.697G>C	c.(697-699)Gag>Cag	p.E233Q	MINPP1_ENST00000536010.1_Missense_Mutation_p.E32Q|MINPP1_ENST00000371994.4_Missense_Mutation_p.E233Q	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	233					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity	p.E233Q(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		TGATCACTGTGAGAAGTTTTT	0.313000													23	38					0	0	0.639603	0	0
KRBA2	124751	broad.mit.edu	37	17	8285553	8285553	+	Missense_Mutation	SNP	G	G	C			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:8285553G>C	ENST00000582471.1	-	2	126	c.76C>G	c.(76-78)Cga>Gga	p.R26G	RPL26_ENST00000585176.1_Intron|RPL26_ENST00000582556.1_Missense_Mutation_p.R26G|RPL26_ENST00000583011.1_Missense_Mutation_p.R26G|RPL26_ENST00000584164.1_Missense_Mutation_p.R26G|RPL26_ENST00000578812.1_Missense_Mutation_p.R26G|RPL26_ENST00000293842.5_Missense_Mutation_p.R26G														p.R26G(1)									ATCTTCCTTCGAATGTGGGAA	0.418000													16	89					0	0	0.479597	0	0
KPNA3	3839	broad.mit.edu	37	13	50306520	50306520	+	Missense_Mutation	SNP	C	C	G			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr13:50306520C>G	ENST00000261667.3	-	6	784	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q		NM_002267.3	NP_002258.2	O00505	IMA3_HUMAN	karyopherin alpha 3 (importin alpha 4)	124					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity	p.E124Q(1)		cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		TCATCCCTTTCTAGACATTTG	0.308000													25	64					0	0	0.667858	0	0
METTL12	751071	broad.mit.edu	37	11	62433975	62433975	+	Missense_Mutation	SNP	G	G	A			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr11:62433975G>A	ENST00000532971.1	+	3	432	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MTL12_HUMAN	methyltransferase like 12	59						mitochondrion	methyltransferase activity	p.E59K(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TGGATACGACGAAGTCCAGGG	0.612000													50	93					0	0	0.870114	0	0
LOC100506457	100506457	broad.mit.edu	37	2	12293343	12293351	+	RNA	DEL	TTCCTTCCC	TTCCTTCCC	-	rs112549370		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr2:12293343_12293351delTTCCTTCCC	ENST00000412294.1	+	0	197																											cttcattcctttccttcccttccttccct	0.426													2	4	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82580534	82580534	+	Frame_Shift_Del	DEL	C	C	-			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr7:82580534delC	ENST00000333891.9	-	6	9707	c.9370delG	c.(9370-9372)gctfs	p.A3124fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.A3124fs	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTGCATCAGCCGTATGAATA	0.453													12	21	---	---	---	---					
LGALS9B	284194	broad.mit.edu	37	17	20370782	20370783	+	Translation_Start_Site	INS	-	-	TC	rs147679570		TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr17:20370782_20370783insTC	ENST00000423676.3	-	0	64_65				LGALS9B_ENST00000324290.5_Start_Codon_Ins			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B								sugar binding	p.M1fs*12(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GCTGAAGGCCATCTCCACCGCC	0.584													4	6	---	---	---	---					
CECR7	100130418	broad.mit.edu	37	22	17528433	17528434	+	RNA	INS	-	-	TT			TCGA-C4-A0F1-01A-11D-A10S-08	TCGA-C4-A0F1-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9377460a-8497-41b8-b2c2-5f50cfeda1fe	6f297c27-b481-4101-833d-bd43bd80ba29	g.chr22:17528433_17528434insTT	ENST00000441006.1	+	0	1006					NR_015352.1																						ACAGTAGTGGCTTTTTTTTCTG	0.446													3	2	---	---	---	---					
