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
VTN	7448	broad.mit.edu	37	17	26694894	26694894	+	Missense_Mutation	SNP	C	C	T	rs150566083		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:26694894C>T	ENST00000226218.4	-	7	1784	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SARM1_ENST00000379061.4_Intron|TMEM199_ENST00000509083.1_Intron|CTB-96E2.3_ENST00000591482.1_RNA|SEBOX_ENST00000438614.1_5'UTR|SEBOX_ENST00000536498.1_5'UTR	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	389	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.R389H(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GTTCTGGTTGCGGCCACGGCT	0.592000													12	30					0	0	0.000978	0	0
OR6C4	341418	broad.mit.edu	37	12	55945874	55945874	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:55945874T>C	ENST00000394256.2	+	1	892	c.864T>C	c.(862-864)taT>taC	p.Y288Y	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTCATATATACTTTAAGAA	0.333000													13	34					0	0	0.001368	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			83	19					0	0	0.003610	0	0
GRIA4	2893	broad.mit.edu	37	11	105758286	105758286	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:105758286C>A	ENST00000393127.2	+	6	1160	c.714C>A	c.(712-714)atC>atA	p.I238I	GRIA4_ENST00000530497.1_Silent_p.I238I|GRIA4_ENST00000393125.2_Silent_p.I238I|GRIA4_ENST00000428631.2_Silent_p.I238I|GRIA4_ENST00000282499.5_Silent_p.I238I|GRIA4_ENST00000525187.1_Silent_p.I238I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	238					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACCATTATATCATTGCAAACT	0.269000													6	61					0.000157383	0.000190219	0.003080	1	0
DPPA2	151871	broad.mit.edu	37	3	109027049	109027049	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:109027049T>C	ENST00000478945.1	-	6	734	c.488A>G	c.(487-489)tAt>tGt	p.Y163C		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	163						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCATCTCATAACTTCTCTG	0.468000													19	71					0	0	0.008871	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													2	18					0	0	0.004672	0	0
WDR49	151790	broad.mit.edu	37	3	167223119	167223119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr3:167223119C>T	ENST00000308378.3	-	13	2109	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S	WDR49_ENST00000476376.1_Missense_Mutation_p.G427S|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.G567S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	602										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAACTTCACCATAATAAGGT	0.259000													4	24					0	0	0.000602	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834432	101834432	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:101834432C>T	ENST00000506729.1	-	1	288	c.117G>A	c.(115-117)ccG>ccA	p.P39P	SLCO6A1_ENST00000389019.3_Silent_p.P39P|SLCO6A1_ENST00000379807.3_Silent_p.P39P|SLCO6A1_ENST00000379810.1_Silent_p.P39P|SLCO6A1_ENST00000513675.1_Silent_p.P39P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGAGGACTTCGGGGTTCCCT	0.592000													104	57					0	0	0.003610	0	0
PPME1	51400	broad.mit.edu	37	11	73962725	73962725	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:73962725G>A	ENST00000328257.8	+	13	1430	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	PPME1_ENST00000398427.4_Silent_p.R383R|PPME1_ENST00000543525.1_Silent_p.R182R			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	369					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TCCTGATCCGGCACAGGTTTG	0.522000													5	127					0	0	0.001168	0	0
MUC5B	727897	broad.mit.edu	37	11	1268748	1268748	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1268748C>T	ENST00000447027.1	+	31	10705	c.10647C>T	c.(10645-10647)agC>agT	p.S3549S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S3546S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3546	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.682000													5	187					0	0	0.001984	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138309	32138309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32138309C>T	ENST00000395499.1	-	4	982	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	AGPAT1_ENST00000395497.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000412465.2_Missense_Mutation_p.A23T|AGPAT1_ENST00000375104.2_Missense_Mutation_p.A135T|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000395496.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000336984.6_Missense_Mutation_p.A135T|AGPAT1_ENST00000375107.3_Missense_Mutation_p.A135T			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	135					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCCAGCCCGGCAGAGCCAGCC	0.652000													15	107					0	0	0.003163	0	0
MAGT1	84061	broad.mit.edu	37	X	77112872	77112872	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:77112872G>A	ENST00000358075.6	-	4	695	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	171					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGTTCTGTCGGCGATCCACC	0.468000													63	153					0	0	0.003610	0	0
PHF21B	112885	broad.mit.edu	37	22	45289390	45289390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:45289390G>A	ENST00000313237.5	-	7	1057	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	PHF21B_ENST00000396103.3_Missense_Mutation_p.R261W|PHF21B_ENST00000404079.2_Missense_Mutation_p.R249W|PHF21B_ENST00000447824.3_Missense_Mutation_p.R249W|PHF21B_ENST00000403565.1_Missense_Mutation_p.R99W	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	303							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTCTCTTCCGCTCCTGTCGC	0.632000													4	8					0	0	0.000248	0	0
SYTL5	94122	broad.mit.edu	37	X	37984588	37984588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:37984588A>G	ENST00000357972.5	+	16	2425	c.1879A>G	c.(1879-1881)Aaa>Gaa	p.K627E	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Missense_Mutation_p.K649E|SYTL5_ENST00000297875.2_Missense_Mutation_p.K627E			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	627	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CACCAAGCACAAAACTCTGGT	0.403000													10	24					0	0	0.006214	0	0
PTPRT	11122	broad.mit.edu	37	20	40790072	40790072	+	Missense_Mutation	SNP	C	C	T	rs61753667		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:40790072C>T	ENST00000373198.3	-	18	2903	c.2668G>A	c.(2668-2670)Gcc>Acc	p.A890T	PTPRT_ENST00000373184.1_Missense_Mutation_p.A858T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A871T|PTPRT_ENST00000373187.1_Missense_Mutation_p.A868T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A867T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A858T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A877T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	868	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGATGGCGGGTTGGAAC	0.622000													24	98					0	0	0.002299	0	0
TFR2	7036	broad.mit.edu	37	7	100238307	100238307	+	Splice_Site	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:100238307A>G	ENST00000462107.1	-	4	761		c.e4+1		TFR2_ENST00000431692.1_Splice_Site|TFR2_ENST00000223051.3_Splice_Site			Q9UP52	TFR2_HUMAN	transferrin receptor 2						cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCATCCCTACCTGATGGTG	0.657000													5	17					0	0	0.000602	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033685	26033685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:26033685C>A	ENST00000259791.2	-	1	111	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAGTAGTTGCCTTTGCGGAGC	0.652000													13	93					1.5842e-08	2.07926e-08	0.001855	1	0
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:69697274C>T	ENST00000409014.1	+	6	958	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	EXD2_ENST00000409018.3_Missense_Mutation_p.R226C|EXD2_ENST00000409242.1_Missense_Mutation_p.R101C|EXD2_ENST00000312994.5_Missense_Mutation_p.R226C|EXD2_ENST00000409675.1_Missense_Mutation_p.R101C|EXD2_ENST00000409949.1_Missense_Mutation_p.R101C|EXD2_ENST00000449989.1_Missense_Mutation_p.R101C|EXD2_ENST00000492815.1_3'UTR	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	101	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423000													16	81					0	0	0.004007	0	0
IL12B	3593	broad.mit.edu	37	5	158749490	158749490	+	Missense_Mutation	SNP	C	C	T	rs139186048		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:158749490C>T	ENST00000231228.2	-	4	849	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	132					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGGCCTCGCATCTTAGA	0.378000													14	40					0	0	0.001855	0	0
ITCH	83737	broad.mit.edu	37	20	33033215	33033215	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:33033215T>C	ENST00000374864.4	+	11	1302	c.1089T>C	c.(1087-1089)cgT>cgC	p.R363R	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Silent_p.R253R|ITCH_ENST00000262650.6_Silent_p.R404R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	404	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTACAGCGTAGTCAGCTTC	0.423000													27	55					0	0	0.005443	0	0
HTT	3064	broad.mit.edu	37	4	3131671	3131671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:3131671C>A	ENST00000355072.5	+	13	1909	c.1764C>A	c.(1762-1764)aaC>aaA	p.N588K		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	588		Cleavage; by apopain (Potential).			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.N588K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTACCGACAACCAGTATTTGG	0.507000													11	145					1.58986e-06	1.9785e-06	0.008291	1	0
VN1R1	57191	broad.mit.edu	37	19	57967606	57967606	+	Silent	SNP	C	C	T	rs143275734		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:57967606C>T	ENST00000321039.3	-	1	248	c.249G>A	c.(247-249)acG>acA	p.T83T	AC004076.9_ENST00000415705.3_Intron|AC004076.9_ENST00000596831.1_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAATCAAGTCCGTGGGTCTCA	0.423000													8	22					0	0	0.003080	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342296	94342296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:94342296C>T	ENST00000436063.2	-	2	1252	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTCTTCATCATCACTACCA	0.403000													53	249					0	0	0.003610	0	0
GREB1	9687	broad.mit.edu	37	2	11767141	11767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:11767141C>T	ENST00000381486.2	+	25	4660	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	GREB1_ENST00000396123.1_Missense_Mutation_p.R452W|GREB1_ENST00000234142.5_Missense_Mutation_p.R1454W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1454						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGACGGCACGGATGAGACT	0.572000													8	42					0	0	0.003080	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149170	45149170	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:45149170A>G	ENST00000458659.2	-	1	1531	c.1041T>C	c.(1039-1041)gcT>gcC	p.A347A	TSC22D1_ENST00000501704.2_Silent_p.A347A	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	347					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTCACACCAGCAGCACTAG	0.413000													17	53					0	0	0.007413	0	0
CEP170B	283638	broad.mit.edu	37	14	105361169	105361169	+	Silent	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:105361169A>C	ENST00000453495.1	+	19	4875	c.4647A>C	c.(4645-4647)tcA>tcC	p.S1549S	CEP170B_ENST00000414716.3_Silent_p.S1513S|CEP170B_ENST00000418279.1_Silent_p.S1443S|CEP170B_ENST00000556508.1_Silent_p.S1478S					centrosomal protein 170B									p.S1513S(3)|p.S1479S(3)|p.S1478S(1)									GCCCACCCTCACCCGCCTCAG	0.711000													7	21					0	0	0.004007	0	0
ZNF827	152485	broad.mit.edu	37	4	146824264	146824264	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:146824264C>T	ENST00000508784.1	-	2	374	c.147G>A	c.(145-147)caG>caA	p.Q49Q	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.Q49Q			Q17R98	ZN827_HUMAN	zinc finger protein 827	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TATAGTTCTCCTGGACTTCCC	0.562000													29	78					0	0	0.001786	0	0
TRIM45	80263	broad.mit.edu	37	1	117663359	117663359	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:117663359G>A	ENST00000256649.4	-	1	991	c.465C>T	c.(463-465)tgC>tgT	p.C155C	TRIM45_ENST00000369464.3_Silent_p.C155C|TRIM45_ENST00000369461.3_Silent_p.C98C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	155						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGCAGAAGTGGCAGAGGTTGG	0.542000													22	72					0	0	0.001523	0	0
DUSP28	285193	broad.mit.edu	37	2	241500794	241500794	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:241500794G>T	ENST00000405954.1	+	2	824	c.441G>T	c.(439-441)tgG>tgT	p.W147C	DUSP28_ENST00000343217.2_Missense_Mutation_p.W147C			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	147							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CGGGCTTCTGGTCTCAGCTCC	0.602000													14	45					3.27435e-08	4.23147e-08	0.002450	1	0
TSACC	128229	broad.mit.edu	37	1	156314481	156314481	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:156314481A>T	ENST00000368255.3	+	3	505	c.145A>T	c.(145-147)Aca>Tca	p.T49S	TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368251.1_Missense_Mutation_p.T49S|TSACC_ENST00000368253.1_Missense_Mutation_p.T49S|TSACC_ENST00000368254.1_Missense_Mutation_p.T49S|TSACC_ENST00000368252.1_Missense_Mutation_p.T49S	NM_144627.3	NP_653228.1			TSSK6 activating co-chaperone																		GAACATCCAGACAACAAAGCT	0.507000													20	131					0	0	0.001882	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136312	220136312	+	RNA	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:220136312C>A	ENST00000490341.1	+	0	782					NR_003063.1																						ACATCCACTTCCCCCTGGCCA	0.547000													17	62					4.35082e-09	5.80109e-09	0.001523	1	0
CCL25	6370	broad.mit.edu	37	19	8122704	8122704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:8122704G>C	ENST00000253451.4	+	5	448	c.342G>C	c.(340-342)aaG>aaC	p.K114N	CCL25_ENST00000390669.3_Missense_Mutation_p.K115N|CCL25_ENST00000315626.4_Missense_Mutation_p.E71Q	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	115					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						atgctgtaaagaagttgagtt	0.468000													11	27					0	0	0.002450	0	0
SLC16A8	23539	broad.mit.edu	37	22	38477107	38477107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr22:38477107G>T	ENST00000320521.5	-	4	1046	c.938C>A	c.(937-939)gCg>gAg	p.A313E	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	313					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CCGCAGACGCGCCAGGCCCGC	0.741000													4	8					2.56e-06	3.16235e-06	0.000248	1	0
FKBP14	55033	broad.mit.edu	37	7	30058665	30058665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:30058665C>A	ENST00000222803.5	-	3	599	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	142	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TGGAATGATTCATGGGATCTT	0.393000													15	69					6.31663e-08	8.10071e-08	0.003163	1	0
OR8B12	219858	broad.mit.edu	37	11	124413461	124413461	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:124413461A>T	ENST00000306842.2	-	1	114	c.90T>A	c.(88-90)ttT>ttA	p.F30L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		AGAAACCCAGAAACAGGAAGA	0.512000													22	72					0	0	0.003954	0	0
ATAD2B	54454	broad.mit.edu	37	2	24009046	24009046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:24009046G>A	ENST00000238789.5	-	21	3167	c.2824C>T	c.(2824-2826)Cgt>Tgt	p.R942C	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	942							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAATTGACGAGGTGGAGAA	0.453000													3	8					0	0	0.000248	0	0
KRI1	65095	broad.mit.edu	37	19	10675689	10675689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:10675689G>A	ENST00000312962.6	-	3	227	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	KRI1_ENST00000361821.5_Missense_Mutation_p.R66W|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	70										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAAAAGTCCCGCTCCTGCTGG	0.517000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	39					0	0	0.003610	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675260	1675260	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:1675260A>T	ENST00000254722.4	+	5	697	c.534A>T	c.(532-534)caA>caT	p.Q178H		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	178					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TGGACCTGCAAGAGATCAACA	0.552000													7	32					0	0	0.001984	0	0
GPER1	2852	broad.mit.edu	37	7	1132135	1132135	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:1132135G>A	ENST00000397092.1	+	3	1655	c.771G>A	c.(769-771)gcG>gcA	p.A257A	C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron|GPER_ENST00000397088.3_Silent_p.A257A|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Silent_p.A257A|C7orf50_ENST00000357429.6_Intron|GPER_ENST00000297469.3_Silent_p.A257A	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		257						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GGCAGAAGGCGCTCCGCATGA	0.682000													26	59					0	0	0.006320	0	0
SCNN1G	6340	broad.mit.edu	37	16	23221114	23221114	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:23221114A>G	ENST00000300061.2	+	7	1264	c.1121A>G	c.(1120-1122)gAg>gGg	p.E374G	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	374					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGTGCACGGAGGACGGGAGT	0.617000													9	76					0	0	0.008291	0	0
LOC645166	645166	broad.mit.edu	37	1	148933289	148933289	+	RNA	SNP	A	A	G	rs9729175	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:148933289A>G	ENST00000539543.1	+	0	176					NR_027355.1																						TGCTGCCCGCAGGATATTGTG	0.562000													4	17					0	0	0.000248	0	0
PHKA2	5256	broad.mit.edu	37	X	18949759	18949759	+	Splice_Site	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:18949759C>A	ENST00000379942.4	-	12	1910	c.1245_splice	c.e12+1	p.E415_splice		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	415					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGCCCCTACCTCTGCCAACA	0.552000											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	130					2.70662e-09	3.6377e-09	0.001786	1	0
CHD8	57680	broad.mit.edu	37	14	21897487	21897487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:21897487G>A	ENST00000399982.2	-	2	915	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CHD8_ENST00000557364.1_Missense_Mutation_p.S284L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.S5L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATGCGTTTCGATTCACCCTA	0.438000													12	38					0	0	0.002450	0	0
MS4A14	84689	broad.mit.edu	37	11	60183510	60183510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:60183510C>T	ENST00000300187.6	+	5	1346	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	MS4A14_ENST00000531783.1_Missense_Mutation_p.P390S|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.P340S|MS4A14_ENST00000531787.1_Missense_Mutation_p.P245S	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	357						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGACCTGCCCCCTCAAGGcat	0.438000													13	27					0	0	0.001368	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265528	37265528	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:37265528T>C	ENST00000315392.4	-	3	583	c.372A>G	c.(370-372)atA>atG	p.I124M	PLXDC1_ENST00000444911.2_Missense_Mutation_p.I84M|PLXDC1_ENST00000539608.1_Missense_Mutation_p.I51M|PLXDC1_ENST00000394316.2_Missense_Mutation_p.I124M|PLXDC1_ENST00000493200.1_5'UTR	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	124					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTGGAGAGTATTGTGTGGA	0.632000													14	33					0	0	0.004007	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262354	1262354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:1262354G>A	ENST00000343938.4	+	2	475	c.64G>A	c.(64-66)Gat>Aat	p.D22N	GLTPD1_ENST00000464957.1_Intron	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	22						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGTGTCTCGATGAGAAGGA	0.562000													17	71					0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153026582	153026582	+	Silent	SNP	C	C	T	rs138090704		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:153026582C>T	ENST00000285900.5	+	3	658	c.315C>T	c.(313-315)caC>caT	p.H105H	GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000518783.1_Silent_p.H115H|GRIA1_ENST00000448073.4_Silent_p.H115H|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000340592.5_Silent_p.H105H|GRIA1_ENST00000521843.2_Silent_p.H36H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	105					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			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)	GGGCCCTCCACGTCTGCTTCA	0.502000													47	55					0	0	0.003610	0	0
SOX9	6662	broad.mit.edu	37	17	70119789	70119789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:70119789G>A	ENST00000245479.2	+	3	1163	c.791G>A	c.(790-792)aGa>aAa	p.R264K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	264					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.R264T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GAGGGGGGCAGACAGCCCCCT	0.647000													25	99					0	0	0.005443	0	0
BRWD3	254065	broad.mit.edu	37	X	79978124	79978124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:79978124C>T	ENST00000373275.4	-	17	2029	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	605										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGTCCTGGTACCAACCGTTGG	0.403000													4	33					0	0	0.000248	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602211	61602211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:61602211G>A	ENST00000238508.3	+	8	988	c.929G>A	c.(928-930)gGg>gAg	p.G310E	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AGCAGTATGGGGATGAGTGAT	0.438000													8	27					0	0	0.003080	0	0
ACSS3	79611	broad.mit.edu	37	12	81472045	81472045	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:81472045G>A	ENST00000548058.1	+	1	1056	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.R49Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	49						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTCGGGGGCCGGGGATGCAGG	0.731000													12	14					0	0	0.001368	0	0
RFX6	222546	broad.mit.edu	37	6	117250042	117250042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:117250042C>T	ENST00000332958.2	+	18	2535	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	840					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATCCACGATCCACTTAACATT	0.463000													24	99					0	0	0.002780	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886722	9886722	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:9886722C>T	ENST00000306084.6	+	2	445	c.246C>T	c.(244-246)gcC>gcT	p.A82A	TXNDC2_ENST00000357775.4_Silent_p.A15A|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.A15A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	82					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGTCTGATGCCTCACAGGAGG	0.567000													23	81					0	0	0.002299	0	0
LAMA4	3910	broad.mit.edu	37	6	112537594	112537594	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:112537594C>A	ENST00000230538.7	-	3	669	c.272G>T	c.(271-273)tGt>tTt	p.C91F	LAMA4_ENST00000522006.1_Missense_Mutation_p.C91F|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000431543.2_Missense_Mutation_p.C91F|LAMA4_ENST00000389463.4_Missense_Mutation_p.C91F|LAMA4_ENST00000424408.2_Missense_Mutation_p.C91F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	91	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCGTCCAAACACTCGTTGGA	0.458000													8	56					7.48243e-07	9.38096e-07	0.006214	1	0
TNPO3	23534	broad.mit.edu	37	7	128640537	128640537	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:128640537C>T	ENST00000393245.1	-	7	1330	c.957G>A	c.(955-957)ggG>ggA	p.G319G	TNPO3_ENST00000471166.1_Silent_p.G319G|TNPO3_ENST00000265388.5_Silent_p.G319G|TNPO3_ENST00000482320.1_Silent_p.G253G|TNPO3_ENST00000471234.1_Silent_p.G319G	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	319					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCGAAGGTCCCCAAGACCTT	0.433000													16	76					0	0	0.003163	0	0
FREM2	341640	broad.mit.edu	37	13	39265893	39265893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr13:39265893G>T	ENST00000280481.7	+	1	4628	c.4412G>T	c.(4411-4413)tGc>tTc	p.C1471F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1471					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGGAATGCACGGATCAG	0.468000													13	39					0.00010058	0.000122445	0.001368	1	0
LYN	4067	broad.mit.edu	37	8	56860268	56860268	+	Missense_Mutation	SNP	G	G	A	rs149135061		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:56860268G>A	ENST00000520220.2	+	4	481	c.207G>A	c.(205-207)atG>atA	p.M69I	LYN_ENST00000519728.1_Missense_Mutation_p.M90I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	90	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAGAGAAGATGAAAGTCCTGG	0.527000													20	101					0	0	0.008871	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:175116091G>A	ENST00000239462.4	+	19	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	58					0	0	0.008291	0	0
CTCFL	140690	broad.mit.edu	37	20	56098320	56098320	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:56098320C>T	ENST00000426658.2	-	2	1219	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CTCFL_ENST00000243914.3_Silent_p.Q186Q|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000422109.2_Silent_p.Q186Q|CTCFL_ENST00000433949.2_Silent_p.Q186Q|CTCFL_ENST00000432255.2_Silent_p.Q186Q|CTCFL_ENST00000371196.2_Silent_p.Q186Q|CTCFL_ENST00000423479.2_Silent_p.Q186Q|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000422869.2_Silent_p.Q186Q|CTCFL_ENST00000429804.2_Silent_p.Q186Q			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	186					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTCTTCTCCTGCTCTTCCT	0.353000													13	101					0	0	0.004007	0	0
HTT	3064	broad.mit.edu	37	4	3131672	3131672	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:3131672C>G	ENST00000355072.5	+	13	1910	c.1765C>G	c.(1765-1767)Cag>Gag	p.Q589E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	589					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TACCGACAACCAGTATTTGGG	0.507000													11	144					0	0	0.008291	0	0
UVSSA	57654	broad.mit.edu	37	4	1360207	1360207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:1360207C>T	ENST00000389851.4	+	8	1723	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	UVSSA_ENST00000511216.1_Missense_Mutation_p.R426W|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000507531.1_Missense_Mutation_p.R426W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	426																	CGACCACTTGCGGCCTGAGTA	0.642000													57	156					0	0	0.003610	0	0
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	G	A	rs144464842	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:20442600G>A	ENST00000331849.4	+	10	1412	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R422L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTTGCCGTCCGTATCAGACCC	0.502000													36	214					0	0	0.004289	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:94827740C>T	ENST00000289495.5	+	5	2050	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R612C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R612C|AC002429.5_ENST00000417881.2_RNA	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	612	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478000										HNSCC(28;0.073)			23	126					0	0	0.005443	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676660	44676660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:44676660C>T	ENST00000454036.1	+	16	2093	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	SLC12A5_ENST00000539566.1_3'UTR|SLC12A5_ENST00000243964.3_Missense_Mutation_p.L650F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	673					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGTCTGTCTCTCAGTGCGGC	0.607000													5	35					0	0	0.000602	0	0
PAGR1	79447	broad.mit.edu	37	16	29828566	29828566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:29828566A>G	ENST00000320330.6	+	2	1080	c.518A>G	c.(517-519)gAg>gGg	p.E173G	CTD-2574D22.6_ENST00000562285.1_Missense_Mutation_p.S3G|AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		TTTGATGATGAGCCAGTGACA	0.557000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	42					0	0	0.004482	0	0
PFAS	5198	broad.mit.edu	37	17	8167249	8167249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:8167249C>T	ENST00000314666.6	+	15	1919	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	PFAS_ENST00000545834.1_Missense_Mutation_p.R172W|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACTGGAGACCGGAGAGTGAG	0.597000													8	78					0	0	0.003080	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31837035	31837035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:31837035G>C	ENST00000373714.1	+	8	982	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	ZCCHC17_ENST00000344147.5_Missense_Mutation_p.E241Q|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.E233Q|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.E243Q			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	241						nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		gaagcacaagGAGTGAGAGTA	0.458000													14	28					0	0	0.001855	0	0
RAMP2	10266	broad.mit.edu	37	17	40914816	40914816	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:40914816C>T	ENST00000589683.1	+	4	615	c.249C>T	c.(247-249)ccC>ccT	p.P83P	RAMP2_ENST00000588576.1_3'UTR|RAMP2_ENST00000253796.5_Silent_p.P158P|RAMP2_ENST00000587142.1_Silent_p.P163P			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	158					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GCCTCATCCCCTTCCTCATCA	0.567000													17	49					0	0	0.004007	0	0
TRIM5	85363	broad.mit.edu	37	11	5699621	5699621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:5699621T>C	ENST00000305836.5	-	4	859	c.557A>G	c.(556-558)gAg>gGg	p.E186G	TRIM5_ENST00000396847.3_Missense_Mutation_p.E186G|TRIM5_ENST00000396855.3_Missense_Mutation_p.E186G|TRIM5_ENST00000380027.1_Missense_Mutation_p.E186G|TRIM5_ENST00000396853.4_Missense_Mutation_p.E186G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000380034.3_Missense_Mutation_p.E186G			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	186					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCAGTTGCTCAAAATCTGC	0.468000													3	138					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179569648	179569648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179569648C>G	ENST00000589042.1	-	104	29874	c.29650G>C	c.(29650-29652)Gag>Cag	p.E9884Q	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8640Q|TTN_ENST00000591111.1_Missense_Mutation_p.E9567Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9567	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAGTTCCTCAAATTCCTTT	0.308000													33	95					0	0	0.005524	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331319	133331319	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr12:133331319C>T	ENST00000539605.1	-	1	7080	c.396G>A	c.(394-396)aaG>aaA	p.K132K	ANKLE2_ENST00000357997.5_Silent_p.K194K|ANKLE2_ENST00000337516.5_Silent_p.K194K			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	194						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGGCGGCTCCTTAGACGCAG	0.567000													17	58					0	0	0.004007	0	0
MYO10	4651	broad.mit.edu	37	5	16701457	16701457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:16701457G>C	ENST00000513610.1	-	25	3501	c.3047C>G	c.(3046-3048)tCa>tGa	p.S1016*	MYO10_ENST00000505695.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000427430.2_Nonsense_Mutation_p.S373*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.S373*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1016					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGCTGGTCTGAGTGGCCGTG	0.627000													13	34					0	0	0.004007	0	0
UNC5A	90249	broad.mit.edu	37	5	176301345	176301345	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:176301345G>T	ENST00000329542.4	+	8	1430	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	UNC5A_ENST00000261961.3_Missense_Mutation_p.D346Y	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	386					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCAGGATGGGCCCAG	0.647000													39	158					1.36161e-19	1.90626e-19	0.004289	1	0
TRO	7216	broad.mit.edu	37	X	54955308	54955308	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:54955308C>A	ENST00000173898.7	+	12	2263	c.2151C>A	c.(2149-2151)gcC>gcA	p.A717A	TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Silent_p.A320A|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.A248A	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	717					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCAGATGCCAGCACCAACG	0.512000													21	33					1.01871e-10	1.40282e-10	0.008871	1	0
AGER	177	broad.mit.edu	37	6	32150720	32150720	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150720C>T	ENST00000375076.4	-	6	690	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	AGER_ENST00000438221.2_Missense_Mutation_p.A213T|AGER_ENST00000375067.3_Missense_Mutation_p.A183T|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.A228T|AGER_ENST00000375055.2_Missense_Mutation_p.A197T|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.A96T	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCTCCCCGGGCTGGGGTCACC	0.617000													11	96					0	0	0.004007	0	0
FAM102A	399665	broad.mit.edu	37	9	130712724	130712724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:130712724C>T	ENST00000373095.1	-	4	767	c.392G>A	c.(391-393)cGc>cAc	p.R131H	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	131										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GTTGTCCTGGCGAGTGTTCTT	0.602000													19	102					0	0	0.001882	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352728	92352728	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:92352728T>C	ENST00000276609.3	+	8	1214	c.975T>C	c.(973-975)gcT>gcC	p.A325A	SLC26A7_ENST00000309536.2_Silent_p.A325A|SLC26A7_ENST00000523719.1_Silent_p.A325A	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	325						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCACTGGCTCTTGCTCAAG	0.502000													21	106					0	0	0.001523	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626733	232626733	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:232626733G>T	ENST00000366630.1	-	4	2051	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCTTTGAGAGGTAGTCCTCGT	0.473000													12	61					1.08611e-07	1.38232e-07	0.000978	1	0
CSMD3	114788	broad.mit.edu	37	8	113249437	113249437	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113249437T>C	ENST00000297405.5	-	67	10853	c.10609A>G	c.(10609-10611)Atg>Gtg	p.M3537V	CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467V|CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368V|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCAGCTCCATGTTGCTATTG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	126					0	0	0.006122	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	59					0	0	0.000248	0	0
CSMD2	114784	broad.mit.edu	37	1	34082539	34082539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:34082539G>C	ENST00000373381.4	-	39	6159	c.5983C>G	c.(5983-5985)Cgg>Ggg	p.R1995G	CSMD2_ENST00000373380.1_Missense_Mutation_p.R868G|CSMD2_ENST00000373377.1_Missense_Mutation_p.R94G|CSMD2_ENST00000373388.2_Missense_Mutation_p.R94G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1955	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCATCGCCGCACTGTTCCG	0.527000													17	88					0	0	0.008871	0	0
AGER	177	broad.mit.edu	37	6	32150719	32150719	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150719G>T	ENST00000375076.4	-	6	691	c.590C>A	c.(589-591)gCc>gAc	p.A197D	AGER_ENST00000438221.2_Missense_Mutation_p.A213D|AGER_ENST00000375067.3_Missense_Mutation_p.A183D|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.A228D|AGER_ENST00000375055.2_Missense_Mutation_p.A197D|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.A96D	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCCCGGGCTGGGGTCAC	0.617000													11	94					1.5739e-10	2.14971e-10	0.004007	1	0
SORCS2	57537	broad.mit.edu	37	4	7735048	7735048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr4:7735048G>A	ENST00000507866.2	+	24	3217		c.e24-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGCTTGCAGAGGCTCGCCG	0.652000													2	2					0	0	0.004672	0	0
MUC5B	727897	broad.mit.edu	37	11	1264977	1264977	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:1264977C>T	ENST00000447027.1	+	31	6934	c.6876C>T	c.(6874-6876)agC>agT	p.S2292S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.S2289S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2289	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.677000													22	95					0	0	0.003954	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033684	26033684	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:26033684C>A	ENST00000259791.2	-	1	112	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGAGTAGTTGCCTTTGCGGAG	0.652000													14	93					3.27435e-08	4.23147e-08	0.002450	1	0
MACF1	23499	broad.mit.edu	37	1	39792914	39792914	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:39792914A>C	ENST00000564288.1	+	36	5280	c.4503A>C	c.(4501-4503)caA>caC	p.Q1501H	MACF1_ENST00000372915.3_Missense_Mutation_p.Q1506H|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.Q1506H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q1506H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q1538H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q1506H|MACF1_ENST00000539005.1_Missense_Mutation_p.Q1506H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGAAACAAATATCTGAGC	0.393000													8	19					0	0	0.004482	0	0
DPEP1	1800	broad.mit.edu	37	16	89702704	89702704	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:89702704G>A	ENST00000393092.3	+	4	561	c.270G>A	c.(268-270)caG>caA	p.Q90Q	DPEP1_ENST00000261615.4_Silent_p.Q90Q|DPEP1_ENST00000421184.1_Silent_p.Q90Q	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	90					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGACACCCAGAACAAAGACG	0.652000													9	24					0	0	0.004482	0	0
COL13A1	1305	broad.mit.edu	37	10	71677072	71677072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:71677072G>T	ENST00000356340.3	+	17	1515	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C	COL13A1_ENST00000398966.3_Missense_Mutation_p.G305C|COL13A1_ENST00000357811.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398974.3_Missense_Mutation_p.G315C|COL13A1_ENST00000354547.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398978.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398973.3_Missense_Mutation_p.G327C|COL13A1_ENST00000522165.1_Missense_Mutation_p.G308C|COL13A1_ENST00000520267.1_Missense_Mutation_p.G270C|COL13A1_ENST00000398972.3_Missense_Mutation_p.G327C|COL13A1_ENST00000520133.1_Missense_Mutation_p.G276C|COL13A1_ENST00000517713.1_Missense_Mutation_p.G305C|COL13A1_ENST00000398971.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398964.3_Missense_Mutation_p.G298C|COL13A1_ENST00000398969.3_Missense_Mutation_p.G270C|COL13A1_ENST00000398968.3_Missense_Mutation_p.G308C			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	327	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGATGCCAGGCAAGCATGG	0.632000													11	22					2.27111e-07	2.86877e-07	0.001368	1	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143882	61143882	+	RNA	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:61143882G>A	ENST00000475015.1	-	0	456				C20orf166-AS1_ENST00000412495.1_RNA																							GGGGCCTCTCGCTGGGAGCTG	0.652000													16	76					0	0	0.003163	0	0
LRP2	4036	broad.mit.edu	37	2	170055331	170055331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:170055331C>T	ENST00000263816.3	-	45	8828	c.8543G>A	c.(8542-8544)tGt>tAt	p.C2848Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2848	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTATCTCCACAGTCATTGTC	0.378000													8	20					0	0	0.003080	0	0
ITGAV	3685	broad.mit.edu	37	2	187506226	187506226	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:187506226A>T	ENST00000261023.3	+	12	1344	c.1070A>T	c.(1069-1071)cAg>cTg	p.Q357L	ITGAV_ENST00000433736.2_Missense_Mutation_p.Q311L|ITGAV_ENST00000374907.3_Missense_Mutation_p.Q321L|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	357					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGAGACTTCCAGACGACAAAG	0.493000													52	141					0	0	0.003610	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454940	66454940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:66454940C>T	ENST00000533211.1	-	35	7011	c.6680G>A	c.(6679-6681)cGc>cAc	p.R2227H	SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2227H|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2227H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2227	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTGCTTGCGGCACAGCAT	0.642000													44	73					0	0	0.003214	0	0
OVGP1	5016	broad.mit.edu	37	1	111969225	111969225	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:111969225C>A	ENST00000369732.3	-	3	149	c.94G>T	c.(94-96)Gca>Tca	p.A32S	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	32					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CGACTGTGTGCCCAGTTGGTG	0.532000													9	28					9.70103e-10	1.31433e-09	0.008291	1	0
HLA-B	3106	broad.mit.edu	37	6	31323330	31323330	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:31323330T>G	ENST00000412585.2	-	4	687	c.659A>C	c.(658-660)gAc>gCc	p.D220A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCTCATGGTCAGAGATGGG	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				27	175					0	0	0.006999	0	0
MC2R	4158	broad.mit.edu	37	18	13885467	13885467	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr18:13885467A>G	ENST00000327606.3	-	2	231	c.51T>C	c.(49-51)aaT>aaC	p.N17N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	17					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTCGGAATTATTTCTTGCTG	0.433000													9	39					0	0	0.006214	0	0
AGER	177	broad.mit.edu	37	6	32150723	32150723	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:32150723G>C	ENST00000375076.4	-	6	687	c.586C>G	c.(586-588)Cca>Gca	p.P196A	AGER_ENST00000438221.2_Missense_Mutation_p.P212A|AGER_ENST00000375067.3_Missense_Mutation_p.P182A|AGER_ENST00000375065.5_Intron|AGER_ENST00000375070.3_Missense_Mutation_p.P227A|AGER_ENST00000375055.2_Missense_Mutation_p.P196A|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.P95A	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	196	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCCCGGGCTGGGGTCACCATT	0.607000													10	94					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179595244	179595244	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:179595244G>T	ENST00000589042.1	-	61	18240	c.18016C>A	c.(18016-18018)Ctg>Atg	p.L6006M	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L4762M|TTN_ENST00000591111.1_Missense_Mutation_p.L5689M|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5689	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTGTCAGATGCCCACTG	0.378000													29	86					1.22384e-17	1.69921e-17	0.002836	1	0
FCGBP	8857	broad.mit.edu	37	19	40392569	40392569	+	Silent	SNP	G	G	A	rs142183229	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:40392569G>A	ENST00000221347.6	-	16	7942	c.7935C>T	c.(7933-7935)agC>agT	p.S2645S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2645	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACACTCCTCGCTGGGGATAC	0.657000													16	50					0	0	0.003163	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686191	125686191	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:125686191G>C	ENST00000371126.1	-	1	643	c.401C>G	c.(400-402)cCc>cGc	p.P134R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	134										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCGCAAGAGGGGAATGCGCGC	0.632000													17	72					0	0	0.004990	0	0
PDZD7	79955	broad.mit.edu	37	10	102777943	102777943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102777943T>C	ENST00000370215.3	-	9	1660	c.1435A>G	c.(1435-1437)Agg>Ggg	p.R479G		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	479						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGCGCTAGCCTCCCCTGCCGC	0.637000													21	60					0	0	0.001523	0	0
CRB2	286204	broad.mit.edu	37	9	126125359	126125359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:126125359C>T	ENST00000373631.3	+	2	311	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	CRB2_ENST00000359999.3_Missense_Mutation_p.R104C	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	104	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCAGGGCCCACGCTGCGAGCT	0.682000													8	39					0	0	0.004482	0	0
COQ6	51004	broad.mit.edu	37	14	74426168	74426168	+	Silent	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:74426168A>C	ENST00000334571.2	+	8	874	c.834A>C	c.(832-834)gcA>gcC	p.A278A	COQ6_ENST00000238709.4_Silent_p.A203A|COQ6_ENST00000394026.4_Silent_p.A253A|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	278					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ATGAACATGCAGCAGAGCTAG	0.483000													18	110					0	0	0.004990	0	0
FCHO1	23149	broad.mit.edu	37	19	17892312	17892312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr19:17892312T>A	ENST00000594202.1	+	22	2071	c.1792T>A	c.(1792-1794)Ttg>Atg	p.L598M	FCHO1_ENST00000389133.4_Missense_Mutation_p.L598M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L598M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L598M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L598M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L548M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L605M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L598M|FCHO1_ENST00000596536.1_Missense_Mutation_p.L598M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	598										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCACTGCCTTGGAACGGCC	0.622000													18	61					0	0	0.006122	0	0
ZXDB	158586	broad.mit.edu	37	X	57619372	57619372	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57619372C>T	ENST00000374888.1	+	1	1104	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	297	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGCACAGCAGCAGCCAGGGCC	0.642000													4	12					0	0	0.000248	0	0
AKAP4	8852	broad.mit.edu	37	X	49957377	49957377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:49957377C>A	ENST00000376056.2	-	5	2110	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.A663S|AKAP4_ENST00000376058.2_Missense_Mutation_p.A280S|AKAP4_ENST00000376064.3_Missense_Mutation_p.A654S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	663					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATGGAAGCTGCTTTGCTTGCC	0.478000													11	47					3.86212e-05	4.73603e-05	0.008291	1	0
PCSK5	5125	broad.mit.edu	37	9	78796390	78796390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:78796390G>A	ENST00000545128.1	+	16	2618	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E694K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	694	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCAACTGTGAGTCCTGCTT	0.517000													15	49					0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	T	rs144217264		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:152277569C>T	ENST00000368799.1	-	3	9828	c.9793G>A	c.(9793-9795)Ggg>Agg	p.G3265R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582000									Ichthyosis				219	333					0	0	0.003610	0	0
SLF2	55719	broad.mit.edu	37	10	102706839	102706839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr10:102706839C>T	ENST00000238961.3	+	14	3126	c.2978C>T	c.(2977-2979)cCc>cTc	p.P993L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P993L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	993																	TCCAGTCATCCCCACAACCTC	0.363000													26	85					0	0	0.002096	0	0
ZXDA	7789	broad.mit.edu	37	X	57936696	57936696	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:57936696G>A	ENST00000358697.4	-	1	371	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	53					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						gcccgggcccgccATCTTGGG	0.786000													7	12					0	0	0.001984	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636551	43636551	+	Splice_Site	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43636551C>T	ENST00000431635.2	-	5	637		c.e5-1		EBNA1BP2_ENST00000236051.2_Splice_Site	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGCGATAGCTGAGAATCGT	0.512000													45	88					0	0	0.003610	0	0
TMEM62	80021	broad.mit.edu	37	15	43446919	43446919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:43446919G>C	ENST00000260403.2	+	9	1351	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	358						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTAAGATTGATGGAGTTCA	0.388000													4	33					0	0	0.000602	0	0
TPD52	7163	broad.mit.edu	37	8	80915385	80915385	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:80915385A>G	ENST00000537855.1	-	6	907	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MRPS28_ENST00000522987.1_Intron|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000276585.4_Missense_Mutation_p.S82P|MRPS28_ENST00000521434.1_Intron			P55327	TPD52_HUMAN	tumor protein D52	0					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTCAGCATAGATGCAAAGGAT	0.338000													8	37					0	0	0.003080	0	0
CFL1	1072	broad.mit.edu	37	11	65623524	65623524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:65623524C>T	ENST00000525451.2	-	3	908	c.193G>A	c.(193-195)Gac>Aac	p.D65N	CFL1_ENST00000534769.1_Missense_Mutation_p.D103N|CFL1_ENST00000531407.1_Missense_Mutation_p.D48N|CFL1_ENST00000531413.1_Missense_Mutation_p.D48N|CFL1_ENST00000308162.5_Missense_Mutation_p.D65N|CFL1_ENST00000524553.1_Missense_Mutation_p.D48N|CFL1_ENST00000527344.1_Missense_Mutation_p.D48N			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	65	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TAGGGGTCGTCGACAGTCTGG	0.562000													51	71					0	0	0.003610	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931661	102931661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chrX:102931661G>A	ENST00000423833.2	-	3	1520	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	MORF4L2_ENST00000441076.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R99W			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	99					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTTTTCTTCCGAGGGGGCTGA	0.512000													34	134					0	0	0.002836	0	0
CSMD3	114788	broad.mit.edu	37	8	113347673	113347673	+	Silent	SNP	G	G	A	rs142588028		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:113347673G>A	ENST00000297405.5	-	45	7294	c.7050C>T	c.(7048-7050)atC>atT	p.I2350I	CSMD3_ENST00000352409.3_Silent_p.I2280I|CSMD3_ENST00000455883.2_Silent_p.I2246I|CSMD3_ENST00000343508.3_Silent_p.I2310I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2350	CUB 13.					integral to membrane|plasma membrane		p.I2350I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAACTGACCGATCTGAGGTG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	13					0	0	0.003755	0	0
MYO3B	140469	broad.mit.edu	37	2	171055899	171055899	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:171055899A>T	ENST00000334231.6	+	2	211	c.211A>T	c.(211-213)Agt>Tgt	p.S71C	MYO3B_ENST00000409044.3_Missense_Mutation_p.S62C|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.S62C			Q8WXR4	MYO3B_HUMAN	myosin IIIB	62	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGATCCAGTCAGTGTAAGTAA	0.363000													3	14					0	0	0.000248	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107126	27107126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:27107126A>C	ENST00000354348.2	+	1	51	c.39A>C	c.(37-39)aaA>aaC	p.K13N	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	13					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GCCTGGGGAAAGGGGGTGCCA	0.597000			T	BCL6	NHL								19	51					0	0	0.007413	0	0
IL9	3578	broad.mit.edu	37	5	135231263	135231263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:135231263T>G	ENST00000274520.1	-	2	141	c.131A>C	c.(130-132)aAg>aCg	p.K44T		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	44					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGGCACTTGGAAGCTGG	0.378000													18	79					0	0	0.008871	0	0
NPAP1	23742	broad.mit.edu	37	15	24922410	24922410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr15:24922410C>T	ENST00000329468.2	+	1	1870	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTGGCTCTTCCTGCTGACCT	0.498000													44	158					0	0	0.002222	0	0
AKAP10	11216	broad.mit.edu	37	17	19835125	19835125	+	Missense_Mutation	SNP	G	G	A	rs139003893		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:19835125G>A	ENST00000225737.6	-	10	1791	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	545					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TACCTGAGACGCAGAGCTGTC	0.483000													10	48					0	0	0.008291	0	0
ZNF425	155054	broad.mit.edu	37	7	148802572	148802572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:148802572T>C	ENST00000378061.2	-	4	523	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCTCTCTTTCCCTCGTAAG	0.428000													3	84					0	0	0.004672	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626732	232626732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:232626732G>A	ENST00000366630.1	-	4	2052	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTTTGAGAGGTAGTCCTCG	0.468000													12	62					0	0	0.000978	0	0
VTN	7448	broad.mit.edu	37	17	26694894	26694894	+	Missense_Mutation	SNP	C	C	T	rs150566083		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:26694894C>T	ENST00000226218.4	-	7	1784	c.1166G>A	c.(1165-1167)cGc>cAc	p.R389H	SEBOX_ENST00000536498.1_5'UTR|SEBOX_ENST00000438614.1_5'UTR|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000509083.1_Intron	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	389	Heparin-binding.				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	p.R389H(1)		kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	GTTCTGGTTGCGGCCACGGCT	0.592000													12	30					0	0	0.000978	0	0
PTPRT	11122	broad.mit.edu	37	20	40790072	40790072	+	Missense_Mutation	SNP	C	C	T	rs61753667		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr20:40790072C>T	ENST00000373198.3	-	18	2903	c.2668G>A	c.(2668-2670)Gcc>Acc	p.A890T	PTPRT_ENST00000373187.1_Missense_Mutation_p.A868T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A858T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A858T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A867T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A877T|PTPRT_ENST00000373193.3_Missense_Mutation_p.A871T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	868	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACCCGGATGGCGGGTTGGAAC	0.622000													24	98					0	0	0.002299	0	0
OR6C4	341418	broad.mit.edu	37	12	55945874	55945874	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr12:55945874T>C	ENST00000394256.2	+	1	892	c.864T>C	c.(862-864)taT>taC	p.Y288Y	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTTCATATATACTTTAAGAA	0.333000													13	34					0	0	0.001368	0	0
GRIA4	2893	broad.mit.edu	37	11	105758286	105758286	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:105758286C>A	ENST00000393127.2	+	6	1160	c.714C>A	c.(712-714)atC>atA	p.I238I	GRIA4_ENST00000428631.2_Silent_p.I238I|GRIA4_ENST00000282499.5_Silent_p.I238I|GRIA4_ENST00000530497.1_Silent_p.I238I|GRIA4_ENST00000525187.1_Silent_p.I238I|GRIA4_ENST00000393125.2_Silent_p.I238I	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	238					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACCATTATATCATTGCAAACT	0.269000													6	61					0.000157383	0.000182115	0.003080	1	0
DPPA2	151871	broad.mit.edu	37	3	109027049	109027049	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr3:109027049T>C	ENST00000478945.1	-	6	734	c.488A>G	c.(487-489)tAt>tGt	p.Y163C		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	163						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATTCATCTCATAACTTCTCTG	0.468000													19	71					0	0	0.008871	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													2	18					0	0	0.004672	0	0
WDR49	151790	broad.mit.edu	37	3	167223119	167223119	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr3:167223119C>T	ENST00000308378.3	-	13	2109	c.1804G>A	c.(1804-1806)Ggt>Agt	p.G602S	WDR49_ENST00000453925.2_Missense_Mutation_p.G567S|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.G427S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	602										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATAACTTCACCATAATAAGGT	0.259000													4	24					0	0	0.000602	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834432	101834432	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:101834432C>T	ENST00000506729.1	-	1	288	c.117G>A	c.(115-117)ccG>ccA	p.P39P	SLCO6A1_ENST00000379807.3_Silent_p.P39P|SLCO6A1_ENST00000513675.1_Silent_p.P39P|SLCO6A1_ENST00000389019.3_Silent_p.P39P|SLCO6A1_ENST00000379810.1_Silent_p.P39P			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	39						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TCGAGGACTTCGGGGTTCCCT	0.592000													104	57					0	0	0.003610	0	0
PPME1	51400	broad.mit.edu	37	11	73962725	73962725	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:73962725G>A	ENST00000328257.8	+	13	1430	c.1107G>A	c.(1105-1107)cgG>cgA	p.R369R	PPME1_ENST00000543525.1_Silent_p.R182R|PPME1_ENST00000398427.4_Silent_p.R383R			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	369					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TCCTGATCCGGCACAGGTTTG	0.522000													5	127					0	0	0.001168	0	0
MUC5B	727897	broad.mit.edu	37	11	1268748	1268748	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:1268748C>T	ENST00000447027.1	+	31	10705	c.10647C>T	c.(10645-10647)agC>agT	p.S3549S	MUC5B_ENST00000529681.1_Silent_p.S3546S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3546	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.682000													5	187					0	0	0.001984	0	0
AGPAT1	10554	broad.mit.edu	37	6	32138309	32138309	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:32138309C>T	ENST00000395499.1	-	4	982	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	AGPAT1_ENST00000395497.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000412465.2_Missense_Mutation_p.A23T|AGPAT1_ENST00000395496.1_Missense_Mutation_p.A135T|AGPAT1_ENST00000336984.6_Missense_Mutation_p.A135T|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000375107.3_Missense_Mutation_p.A135T|AGPAT1_ENST00000490711.1_Intron|AGPAT1_ENST00000375104.2_Missense_Mutation_p.A135T			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	135					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCCAGCCCGGCAGAGCCAGCC	0.652000													15	107					0	0	0.003163	0	0
MAGT1	84061	broad.mit.edu	37	X	77112872	77112872	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:77112872G>A	ENST00000358075.6	-	4	695	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_032121.5	NP_115497.4	Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	171					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CAGTTCTGTCGGCGATCCACC	0.468000													63	153					0	0	0.003610	0	0
PHF21B	112885	broad.mit.edu	37	22	45289390	45289390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr22:45289390G>A	ENST00000313237.5	-	7	1057	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	PHF21B_ENST00000403565.1_Missense_Mutation_p.R99W|PHF21B_ENST00000396103.3_Missense_Mutation_p.R261W|PHF21B_ENST00000447824.3_Missense_Mutation_p.R249W|PHF21B_ENST00000404079.2_Missense_Mutation_p.R249W	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	303							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		CTTCTCTTCCGCTCCTGTCGC	0.632000													4	8					0	0	0.000248	0	0
SYTL5	94122	broad.mit.edu	37	X	37984588	37984588	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:37984588A>G	ENST00000357972.5	+	16	2425	c.1879A>G	c.(1879-1881)Aaa>Gaa	p.K627E	SYTL5_ENST00000297875.2_Missense_Mutation_p.K627E|SYTL5_ENST00000456733.2_Missense_Mutation_p.K649E|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	627	C2 2.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CACCAAGCACAAAACTCTGGT	0.403000													10	24					0	0	0.006214	0	0
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	RNA	SNP	C	C	G	rs56290535	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr15:78208916C>G	ENST00000565869.1	+	0	53																											TCCAGATGTTCTCCTCCATCT	0.627000													3	102					0	0	0.004672	0	0
TFR2	7036	broad.mit.edu	37	7	100238307	100238307	+	Splice_Site	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:100238307A>G	ENST00000462107.1	-	4	761		c.e4+1		TFR2_ENST00000431692.1_Splice_Site|TFR2_ENST00000223051.3_Splice_Site			Q9UP52	TFR2_HUMAN	transferrin receptor 2						cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGCCATCCCTACCTGATGGTG	0.657000													5	17					0	0	0.000602	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033685	26033685	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:26033685C>A	ENST00000259791.2	-	1	111	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GAGTAGTTGCCTTTGCGGAGC	0.652000													13	93					1.5842e-08	1.98946e-08	0.001855	1	0
EXD2	55218	broad.mit.edu	37	14	69697274	69697274	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr14:69697274C>T	ENST00000409014.1	+	6	958	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	EXD2_ENST00000492815.1_3'UTR|EXD2_ENST00000409675.1_Missense_Mutation_p.R101C|EXD2_ENST00000449989.1_Missense_Mutation_p.R101C|EXD2_ENST00000409949.1_Missense_Mutation_p.R101C|EXD2_ENST00000409242.1_Missense_Mutation_p.R101C|EXD2_ENST00000409018.3_Missense_Mutation_p.R226C|EXD2_ENST00000312994.5_Missense_Mutation_p.R226C	NM_001193360.1	NP_001180289.1	Q9NVH0	EXD2_HUMAN	exonuclease 3'-5' domain containing 2	101	3'-5' exonuclease.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.R101G(1)|p.R226G(1)		breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						CCTTCTACTTCGTTGCAGCAA	0.423000													16	81					0	0	0.004007	0	0
IL12B	3593	broad.mit.edu	37	5	158749490	158749490	+	Missense_Mutation	SNP	C	C	T	rs139186048		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:158749490C>T	ENST00000231228.2	-	4	849	c.394G>A	c.(394-396)Gag>Aag	p.E132K		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	132					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGGCCTCGCATCTTAGA	0.378000													14	40					0	0	0.001855	0	0
ITCH	83737	broad.mit.edu	37	20	33033215	33033215	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr20:33033215T>C	ENST00000374864.4	+	11	1302	c.1089T>C	c.(1087-1089)cgT>cgC	p.R363R	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Silent_p.R404R|ITCH_ENST00000535650.1_Silent_p.R253R	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	404	WW 2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGCTACAGCGTAGTCAGCTTC	0.423000													27	55					0	0	0.005443	0	0
HTT	3064	broad.mit.edu	37	4	3131671	3131671	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr4:3131671C>A	ENST00000355072.5	+	13	1909	c.1764C>A	c.(1762-1764)aaC>aaA	p.N588K		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	588		Cleavage; by apopain (Potential).			establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	p.N588K(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTACCGACAACCAGTATTTGG	0.507000													11	145					1.58986e-06	1.89381e-06	0.008291	1	0
VN1R1	57191	broad.mit.edu	37	19	57967606	57967606	+	Silent	SNP	C	C	T	rs143275734		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr19:57967606C>T	ENST00000321039.3	-	1	248	c.249G>A	c.(247-249)acG>acA	p.T83T	AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_020633.3	NP_065684.1	Q9GZP7	VN1R1_HUMAN	vomeronasal 1 receptor 1	83					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171)		GAATCAAGTCCGTGGGTCTCA	0.423000													8	22					0	0	0.003080	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342296	94342296	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:94342296C>T	ENST00000436063.2	-	2	1252	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		TCTTCTTCATCATCACTACCA	0.403000													53	249					0	0	0.003610	0	0
GREB1	9687	broad.mit.edu	37	2	11767141	11767141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:11767141C>T	ENST00000381486.2	+	25	4660	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W	GREB1_ENST00000234142.5_Missense_Mutation_p.R1454W|GREB1_ENST00000396123.1_Missense_Mutation_p.R452W	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1454						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCAGACGGCACGGATGAGACT	0.572000													8	42					0	0	0.003080	0	0
TSC22D1	8848	broad.mit.edu	37	13	45149170	45149170	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr13:45149170A>G	ENST00000458659.2	-	1	1531	c.1041T>C	c.(1039-1041)gcT>gcC	p.A347A	TSC22D1_ENST00000501704.2_Silent_p.A347A	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	347					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CACTCACACCAGCAGCACTAG	0.413000													17	53					0	0	0.007413	0	0
ZNF827	152485	broad.mit.edu	37	4	146824264	146824264	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr4:146824264C>T	ENST00000508784.1	-	2	374	c.147G>A	c.(145-147)caG>caA	p.Q49Q	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.Q49Q			Q17R98	ZN827_HUMAN	zinc finger protein 827	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TATAGTTCTCCTGGACTTCCC	0.562000													29	78					0	0	0.001786	0	0
TRIM45	80263	broad.mit.edu	37	1	117663359	117663359	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:117663359G>A	ENST00000256649.4	-	1	991	c.465C>T	c.(463-465)tgC>tgT	p.C155C	TRIM45_ENST00000369464.3_Silent_p.C155C|TRIM45_ENST00000369461.3_Silent_p.C98C	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	155						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		AGCAGAAGTGGCAGAGGTTGG	0.542000													22	72					0	0	0.001523	0	0
DUSP28	285193	broad.mit.edu	37	2	241500794	241500794	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:241500794G>T	ENST00000405954.1	+	2	824	c.441G>T	c.(439-441)tgG>tgT	p.W147C	DUSP28_ENST00000343217.2_Missense_Mutation_p.W147C			Q4G0W2	DUS28_HUMAN	dual specificity phosphatase 28	147							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			lung(2)|upper_aerodigestive_tract(1)	3		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-31)|all cancers(36;5.56e-29)|OV - Ovarian serous cystadenocarcinoma(60;7.57e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.06e-06)|Lung(119;0.00164)|Colorectal(34;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.00802)|COAD - Colon adenocarcinoma(134;0.0311)		CGGGCTTCTGGTCTCAGCTCC	0.602000													14	45					3.27435e-08	4.0492e-08	0.002450	1	0
TSACC	128229	broad.mit.edu	37	1	156314481	156314481	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:156314481A>T	ENST00000368255.3	+	3	505	c.145A>T	c.(145-147)Aca>Tca	p.T49S	TSACC_ENST00000368251.1_Missense_Mutation_p.T49S|TSACC_ENST00000368252.1_Missense_Mutation_p.T49S|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368253.1_Missense_Mutation_p.T49S|TSACC_ENST00000368254.1_Missense_Mutation_p.T49S	NM_144627.3	NP_653228.1			TSSK6 activating co-chaperone																		GAACATCCAGACAACAAAGCT	0.507000													20	131					0	0	0.001882	0	0
TUBA4B	80086	broad.mit.edu	37	2	220136312	220136312	+	RNA	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:220136312C>A	ENST00000490341.1	+	0	782					NR_003063.1																						ACATCCACTTCCCCCTGGCCA	0.547000													17	62					4.35082e-09	5.54986e-09	0.001523	1	0
CCL25	6370	broad.mit.edu	37	19	8122704	8122704	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr19:8122704G>C	ENST00000253451.4	+	5	448	c.342G>C	c.(340-342)aaG>aaC	p.K114N	CCL25_ENST00000390669.3_Missense_Mutation_p.K115N|CCL25_ENST00000315626.4_Missense_Mutation_p.E71Q	NM_001201359.1|NM_005624.3	NP_001188288.1|NP_005615.2	O15444	CCL25_HUMAN	chemokine (C-C motif) ligand 25	115					chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|hormone activity			NS(1)|endometrium(1)|lung(1)|skin(1)|urinary_tract(1)	5						atgctgtaaagaagttgagtt	0.468000													11	27					0	0	0.002450	0	0
TP53	7157	broad.mit.edu	37	17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	rs121913344		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGCTTACCTCGCTTAGTGCTC	0.562000	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			83	19					0	0	0.003610	0	0
SLC16A8	23539	broad.mit.edu	37	22	38477107	38477107	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr22:38477107G>T	ENST00000320521.5	-	4	1046	c.938C>A	c.(937-939)gCg>gAg	p.A313E	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	313					blood coagulation|leukocyte migration|pyruvate metabolic process	integral to plasma membrane|membrane fraction	lactate transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CCGCAGACGCGCCAGGCCCGC	0.741000													4	8					2.56e-06	3.02715e-06	0.000248	1	0
FKBP14	55033	broad.mit.edu	37	7	30058665	30058665	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:30058665C>A	ENST00000222803.5	-	3	599	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	AC007285.6_ENST00000422239.1_RNA|AC007285.6_ENST00000419103.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	142	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						TGGAATGATTCATGGGATCTT	0.393000													15	69					6.31663e-08	7.75222e-08	0.003163	1	0
OR8B12	219858	broad.mit.edu	37	11	124413461	124413461	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:124413461A>T	ENST00000306842.2	-	1	114	c.90T>A	c.(88-90)ttT>ttA	p.F30L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		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;0.0213)		AGAAACCCAGAAACAGGAAGA	0.512000													22	72					0	0	0.003954	0	0
ATAD2B	54454	broad.mit.edu	37	2	24009046	24009046	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:24009046G>A	ENST00000238789.5	-	21	3167	c.2824C>T	c.(2824-2826)Cgt>Tgt	p.R942C	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	942							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GATAATTGACGAGGTGGAGAA	0.453000													3	8					0	0	0.000248	0	0
KRI1	65095	broad.mit.edu	37	19	10675689	10675689	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr19:10675689G>A	ENST00000312962.6	-	3	227	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	KRI1_ENST00000361821.5_Missense_Mutation_p.R66W|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	70										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TAAAAGTCCCGCTCCTGCTGG	0.517000											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	39					0	0	0.003610	0	0
SERPINF1	5176	broad.mit.edu	37	17	1675260	1675260	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:1675260A>T	ENST00000254722.4	+	5	697	c.534A>T	c.(532-534)caA>caT	p.Q178H		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	178					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						TGGACCTGCAAGAGATCAACA	0.552000													7	32					0	0	0.001984	0	0
GPER1	2852	broad.mit.edu	37	7	1132135	1132135	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:1132135G>A	ENST00000397092.1	+	3	1655	c.771G>A	c.(769-771)gcG>gcA	p.A257A	GPER_ENST00000297469.3_Silent_p.A257A|C7orf50_ENST00000397098.3_Intron|GPER_ENST00000397088.3_Silent_p.A257A|GPER_ENST00000401670.1_Silent_p.A257A|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		257						endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		GGCAGAAGGCGCTCCGCATGA	0.682000													26	59					0	0	0.006320	0	0
SCNN1G	6340	broad.mit.edu	37	16	23221114	23221114	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:23221114A>G	ENST00000300061.2	+	7	1264	c.1121A>G	c.(1120-1122)gAg>gGg	p.E374G	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	374					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CAGTGCACGGAGGACGGGAGT	0.617000													9	76					0	0	0.008291	0	0
PHKA2	5256	broad.mit.edu	37	X	18949759	18949759	+	Splice_Site	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:18949759C>A	ENST00000379942.4	-	12	1910	c.1245_splice	c.e12+1	p.E415_splice		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	415					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AAGCCCCTACCTCTGCCAACA	0.552000											OREG0019698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	130					2.70662e-09	3.47994e-09	0.001786	1	0
CHD8	57680	broad.mit.edu	37	14	21897487	21897487	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr14:21897487G>A	ENST00000399982.2	-	2	915	c.851C>T	c.(850-852)tCg>tTg	p.S284L	CHD8_ENST00000557364.1_Missense_Mutation_p.S284L|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.S5L	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	284					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATGCGTTTCGATTCACCCTA	0.438000													12	38					0	0	0.002450	0	0
MS4A14	84689	broad.mit.edu	37	11	60183510	60183510	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:60183510C>T	ENST00000300187.6	+	5	1346	c.1069C>T	c.(1069-1071)Cct>Tct	p.P357S	MS4A14_ENST00000531787.1_Missense_Mutation_p.P245S|MS4A14_ENST00000395005.2_Missense_Mutation_p.P340S|MS4A14_ENST00000531783.1_Missense_Mutation_p.P390S|MS4A14_ENST00000395001.1_3'UTR	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	357						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TGACCTGCCCCCTCAAGGcat	0.438000													13	27					0	0	0.001368	0	0
PLXDC1	57125	broad.mit.edu	37	17	37265528	37265528	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:37265528T>C	ENST00000315392.4	-	3	583	c.372A>G	c.(370-372)atA>atG	p.I124M	PLXDC1_ENST00000394316.2_Missense_Mutation_p.I124M|PLXDC1_ENST00000539608.1_Missense_Mutation_p.I51M|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.I84M	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	124					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTGGAGAGTATTGTGTGGA	0.632000													14	33					0	0	0.004007	0	0
GLTPD1	80772	broad.mit.edu	37	1	1262354	1262354	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:1262354G>A	ENST00000343938.4	+	2	475	c.64G>A	c.(64-66)Gat>Aat	p.D22N	GLTPD1_ENST00000464957.1_Intron	NM_001029885.1	NP_001025056.1	Q5TA50	GLTD1_HUMAN	glycolipid transfer protein domain containing 1	22						cytoplasm	glycolipid binding|glycolipid transporter activity			lung(1)	1	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCAGTGTCTCGATGAGAAGGA	0.562000													17	71					0	0	0.004007	0	0
GRIA1	2890	broad.mit.edu	37	5	153026582	153026582	+	Silent	SNP	C	C	T	rs138090704		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:153026582C>T	ENST00000285900.5	+	3	658	c.315C>T	c.(313-315)caC>caT	p.H105H	GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000521843.2_Silent_p.H36H|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000340592.5_Silent_p.H105H|GRIA1_ENST00000448073.4_Silent_p.H115H|GRIA1_ENST00000518783.1_Silent_p.H115H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	105					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			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)	GGGCCCTCCACGTCTGCTTCA	0.502000													47	55					0	0	0.003610	0	0
SOX9	6662	broad.mit.edu	37	17	70119789	70119789	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:70119789G>A	ENST00000245479.2	+	3	1163	c.791G>A	c.(790-792)aGa>aAa	p.R264K		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	264					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.R264T(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GAGGGGGGCAGACAGCCCCCT	0.647000													25	99					0	0	0.005443	0	0
BRWD3	254065	broad.mit.edu	37	X	79978124	79978124	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:79978124C>T	ENST00000373275.4	-	17	2029	c.1813G>A	c.(1813-1815)Gta>Ata	p.V605I		NM_153252.4	NP_694984.4	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	605										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CGTCCTGGTACCAACCGTTGG	0.403000													4	33					0	0	0.000248	0	0
SERPINB10	5273	broad.mit.edu	37	18	61602211	61602211	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr18:61602211G>A	ENST00000238508.3	+	8	988	c.929G>A	c.(928-930)gGg>gAg	p.G310E	AC009802.1_ENST00000599868.1_Intron	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AGCAGTATGGGGATGAGTGAT	0.438000													8	27					0	0	0.003080	0	0
ACSS3	79611	broad.mit.edu	37	12	81472045	81472045	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr12:81472045G>A	ENST00000548058.1	+	1	1056	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	ACSS3_ENST00000261206.3_Missense_Mutation_p.R49Q			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	49						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTCGGGGGCCGGGGATGCAGG	0.731000													12	14					0	0	0.001368	0	0
RFX6	222546	broad.mit.edu	37	6	117250042	117250042	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:117250042C>T	ENST00000332958.2	+	18	2535	c.2519C>T	c.(2518-2520)cCa>cTa	p.P840L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	840					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ATCCACGATCCACTTAACATT	0.463000													24	99					0	0	0.002780	0	0
TXNDC2	84203	broad.mit.edu	37	18	9886722	9886722	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr18:9886722C>T	ENST00000306084.6	+	2	445	c.246C>T	c.(244-246)gcC>gcT	p.A82A	TXNDC2_ENST00000357775.4_Silent_p.A15A|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.A15A	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	82					cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AGTCTGATGCCTCACAGGAGG	0.567000													23	81					0	0	0.002299	0	0
LAMA4	3910	broad.mit.edu	37	6	112537594	112537594	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:112537594C>A	ENST00000230538.7	-	3	669	c.272G>T	c.(271-273)tGt>tTt	p.C91F	LAMA4_ENST00000389463.4_Missense_Mutation_p.C91F|LAMA4_ENST00000431543.2_Missense_Mutation_p.C91F|LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000522006.1_Missense_Mutation_p.C91F|LAMA4_ENST00000424408.2_Missense_Mutation_p.C91F	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	91	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCCGTCCAAACACTCGTTGGA	0.458000													8	56					7.48243e-07	8.97891e-07	0.006214	1	0
TNPO3	23534	broad.mit.edu	37	7	128640537	128640537	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:128640537C>T	ENST00000393245.1	-	7	1330	c.957G>A	c.(955-957)ggG>ggA	p.G319G	TNPO3_ENST00000471166.1_Silent_p.G319G|TNPO3_ENST00000482320.1_Silent_p.G253G|TNPO3_ENST00000471234.1_Silent_p.G319G|TNPO3_ENST00000265388.5_Silent_p.G319G	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	319					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						TTCGAAGGTCCCCAAGACCTT	0.433000													16	76					0	0	0.003163	0	0
FREM2	341640	broad.mit.edu	37	13	39265893	39265893	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr13:39265893G>T	ENST00000280481.7	+	1	4628	c.4412G>T	c.(4411-4413)tGc>tTc	p.C1471F		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1471					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCTGGAATGCACGGATCAG	0.468000													13	39					0.00010058	0.000117223	0.001368	1	0
LYN	4067	broad.mit.edu	37	8	56860268	56860268	+	Missense_Mutation	SNP	G	G	A	rs149135061		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr8:56860268G>A	ENST00000520220.2	+	4	481	c.207G>A	c.(205-207)atG>atA	p.M69I	LYN_ENST00000519728.1_Missense_Mutation_p.M90I	NM_001111097.2	NP_001104567.1	P07948	LYN_HUMAN	v-yes-1 Yamaguchi sarcoma viral related oncogene homolog	90	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			GAGAGAAGATGAAAGTCCTGG	0.527000													20	101					0	0	0.008871	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:175116091G>A	ENST00000239462.4	+	19	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	58					0	0	0.008291	0	0
CTCFL	140690	broad.mit.edu	37	20	56098320	56098320	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr20:56098320C>T	ENST00000426658.2	-	2	1219	c.558G>A	c.(556-558)caG>caA	p.Q186Q	CTCFL_ENST00000429804.2_Silent_p.Q186Q|CTCFL_ENST00000539382.1_5'UTR|CTCFL_ENST00000243914.3_Silent_p.Q186Q|CTCFL_ENST00000433949.2_Silent_p.Q186Q|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000371196.2_Silent_p.Q186Q|CTCFL_ENST00000422869.2_Silent_p.Q186Q|CTCFL_ENST00000432255.2_Silent_p.Q186Q|CTCFL_ENST00000422109.2_Silent_p.Q186Q|CTCFL_ENST00000423479.2_Silent_p.Q186Q			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	186					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTTCTTCTCCTGCTCTTCCT	0.353000													13	101					0	0	0.004007	0	0
HTT	3064	broad.mit.edu	37	4	3131672	3131672	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr4:3131672C>G	ENST00000355072.5	+	13	1910	c.1765C>G	c.(1765-1767)Cag>Gag	p.Q589E		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	589					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TACCGACAACCAGTATTTGGG	0.507000													11	144					0	0	0.008291	0	0
UVSSA	57654	broad.mit.edu	37	4	1360207	1360207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr4:1360207C>T	ENST00000389851.4	+	8	1723	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	UVSSA_ENST00000511216.1_Missense_Mutation_p.R426W|UVSSA_ENST00000511563.1_5'UTR|UVSSA_ENST00000507531.1_Missense_Mutation_p.R426W	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	426																	CGACCACTTGCGGCCTGAGTA	0.642000													57	156					0	0	0.003610	0	0
ACSM5	54988	broad.mit.edu	37	16	20442600	20442600	+	Missense_Mutation	SNP	G	G	A	rs144464842	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:20442600G>A	ENST00000331849.4	+	10	1412	c.1265G>A	c.(1264-1266)cGt>cAt	p.R422H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	422					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R422L(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GTTGCCGTCCGTATCAGACCC	0.502000													36	214					0	0	0.004289	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:94827740C>T	ENST00000289495.5	+	5	2050	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.R612C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.R612C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.R612C|AC002429.5_ENST00000417881.2_RNA	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	612	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478000										HNSCC(28;0.073)			23	126					0	0	0.005443	0	0
SLC12A5	57468	broad.mit.edu	37	20	44676660	44676660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr20:44676660C>T	ENST00000454036.1	+	16	2093	c.2017C>T	c.(2017-2019)Ctc>Ttc	p.L673F	SLC12A5_ENST00000243964.3_Missense_Mutation_p.L650F|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	673					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGGTCTGTCTCTCAGTGCGGC	0.607000													5	35					0	0	0.000602	0	0
PAGR1	79447	broad.mit.edu	37	16	29828566	29828566	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:29828566A>G	ENST00000320330.6	+	2	1080	c.518A>G	c.(517-519)gAg>gGg	p.E173G	AC009133.20_ENST00000569039.1_RNA|CTD-2574D22.6_ENST00000562285.1_Missense_Mutation_p.S3G	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		TTTGATGATGAGCCAGTGACA	0.557000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	42					0	0	0.004482	0	0
PFAS	5198	broad.mit.edu	37	17	8167249	8167249	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:8167249C>T	ENST00000314666.6	+	15	1919	c.1786C>T	c.(1786-1788)Cgg>Tgg	p.R596W	PFAS_ENST00000545834.1_Missense_Mutation_p.R172W|PFAS_ENST00000585319.1_3'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	596					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACTGGAGACCGGAGAGTGAG	0.597000													8	78					0	0	0.003080	0	0
ZCCHC17	51538	broad.mit.edu	37	1	31837035	31837035	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:31837035G>C	ENST00000373714.1	+	8	982	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	ZCCHC17_ENST00000344147.5_Missense_Mutation_p.E241Q|ZCCHC17_ENST00000546109.1_Missense_Mutation_p.E233Q|ZCCHC17_ENST00000422613.2_Missense_Mutation_p.E243Q			Q9NP64	NO40_HUMAN	zinc finger, CCHC domain containing 17	241						nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		gaagcacaagGAGTGAGAGTA	0.458000													14	28					0	0	0.001855	0	0
RAMP2	10266	broad.mit.edu	37	17	40914816	40914816	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:40914816C>T	ENST00000589683.1	+	4	615	c.249C>T	c.(247-249)ccC>ccT	p.P83P	RAMP2_ENST00000588576.1_3'UTR|RAMP2_ENST00000253796.5_Silent_p.P158P|RAMP2_ENST00000587142.1_Silent_p.P163P			O60895	RAMP2_HUMAN	receptor (G protein-coupled) activity modifying protein 2	158					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	coated pit|integral to plasma membrane|lysosome	protein transporter activity			endometrium(2)|lung(1)|stomach(1)	4		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0741)	Pramlintide(DB01278)	GCCTCATCCCCTTCCTCATCA	0.567000													17	49					0	0	0.004007	0	0
TRIM5	85363	broad.mit.edu	37	11	5699621	5699621	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:5699621T>C	ENST00000305836.5	-	4	859	c.557A>G	c.(556-558)gAg>gGg	p.E186G	TRIM5_ENST00000396847.3_Missense_Mutation_p.E186G|TRIM5_ENST00000396853.4_Missense_Mutation_p.E186G|TRIM5_ENST00000396855.3_Missense_Mutation_p.E186G|TRIM5_ENST00000380034.3_Missense_Mutation_p.E186G|TRIM5_ENST00000380027.1_Missense_Mutation_p.E186G|TRIM5_ENST00000483835.1_5'UTR			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	186					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCTCAGTTGCTCAAAATCTGC	0.468000													3	138					0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179569648	179569648	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:179569648C>G	ENST00000589042.1	-	104	29874	c.29650G>C	c.(29650-29652)Gag>Cag	p.E9884Q	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8640Q|TTN_ENST00000591111.1_Missense_Mutation_p.E9567Q|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9567	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAGTTCCTCAAATTCCTTT	0.308000													33	95					0	0	0.005524	0	0
ANKLE2	23141	broad.mit.edu	37	12	133331319	133331319	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr12:133331319C>T	ENST00000539605.1	-	1	7080	c.396G>A	c.(394-396)aaG>aaA	p.K132K	ANKLE2_ENST00000337516.5_Silent_p.K194K|ANKLE2_ENST00000357997.5_Silent_p.K194K			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	194						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GGGGCGGCTCCTTAGACGCAG	0.567000													17	58					0	0	0.004007	0	0
MYO10	4651	broad.mit.edu	37	5	16701457	16701457	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:16701457G>C	ENST00000513610.1	-	25	3501	c.3047C>G	c.(3046-3048)tCa>tGa	p.S1016*	MYO10_ENST00000427430.2_Nonsense_Mutation_p.S373*|MYO10_ENST00000515803.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000505695.1_Nonsense_Mutation_p.S355*|MYO10_ENST00000274203.9_Nonsense_Mutation_p.S373*	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1016					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGCTGGTCTGAGTGGCCGTG	0.627000													13	34					0	0	0.004007	0	0
UNC5A	90249	broad.mit.edu	37	5	176301345	176301345	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:176301345G>T	ENST00000329542.4	+	8	1430	c.1156G>T	c.(1156-1158)Gat>Tat	p.D386Y	UNC5A_ENST00000261961.3_Missense_Mutation_p.D346Y	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	386					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCAGGATGGGCCCAG	0.647000													39	158					1.36161e-19	1.82299e-19	0.004289	1	0
TRO	7216	broad.mit.edu	37	X	54955308	54955308	+	Silent	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:54955308C>A	ENST00000173898.7	+	12	2263	c.2151C>A	c.(2149-2151)gcC>gcA	p.A717A	TRO_ENST00000375022.4_Intron|TRO_ENST00000375041.2_Silent_p.A320A|TRO_ENST00000319167.8_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Silent_p.A248A	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	717					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ATGCAGATGCCAGCACCAACG	0.512000													21	33					1.01871e-10	1.34172e-10	0.008871	1	0
AGER	177	broad.mit.edu	37	6	32150720	32150720	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:32150720C>T	ENST00000375076.4	-	6	690	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	AGER_ENST00000438221.2_Missense_Mutation_p.A213T|AGER_ENST00000375069.3_Missense_Mutation_p.A96T|AGER_ENST00000375070.3_Missense_Mutation_p.A228T|AGER_ENST00000375065.5_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.A197T|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375067.3_Missense_Mutation_p.A183T	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCTCCCCGGGCTGGGGTCACC	0.617000													11	96					0	0	0.004007	0	0
FAM102A	399665	broad.mit.edu	37	9	130712724	130712724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr9:130712724C>T	ENST00000373095.1	-	4	767	c.392G>A	c.(391-393)cGc>cAc	p.R131H	FAM102A_ENST00000373084.4_5'UTR|FAM102A_ENST00000300434.3_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	131										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GTTGTCCTGGCGAGTGTTCTT	0.602000													19	102					0	0	0.001882	0	0
SLC26A7	115111	broad.mit.edu	37	8	92352728	92352728	+	Silent	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr8:92352728T>C	ENST00000276609.3	+	8	1214	c.975T>C	c.(973-975)gcT>gcC	p.A325A	SLC26A7_ENST00000523719.1_Silent_p.A325A|SLC26A7_ENST00000309536.2_Silent_p.A325A	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	325						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCTCACTGGCTCTTGCTCAAG	0.502000													21	106					0	0	0.001523	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626733	232626733	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:232626733G>T	ENST00000366630.1	-	4	2051	c.1693C>A	c.(1693-1695)Cct>Act	p.P565T	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TCTTTGAGAGGTAGTCCTCGT	0.473000													12	61					1.08611e-07	1.32293e-07	0.000978	1	0
CSMD3	114788	broad.mit.edu	37	8	113249437	113249437	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr8:113249437T>C	ENST00000297405.5	-	67	10853	c.10609A>G	c.(10609-10611)Atg>Gtg	p.M3537V	CSMD3_ENST00000455883.2_Missense_Mutation_p.M3368V|CSMD3_ENST00000343508.3_Missense_Mutation_p.M3497V|CSMD3_ENST00000352409.3_Missense_Mutation_p.M3467V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3537						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCAGCTCCATGTTGCTATTG	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			17	126					0	0	0.006122	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	59					0	0	0.000248	0	0
CSMD2	114784	broad.mit.edu	37	1	34082539	34082539	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:34082539G>C	ENST00000373381.4	-	39	6159	c.5983C>G	c.(5983-5985)Cgg>Ggg	p.R1995G	CSMD2_ENST00000373388.2_Missense_Mutation_p.R94G|CSMD2_ENST00000373377.1_Missense_Mutation_p.R94G|CSMD2_ENST00000373380.1_Missense_Mutation_p.R868G	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1955	CUB 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTCCATCGCCGCACTGTTCCG	0.527000													17	88					0	0	0.008871	0	0
AGER	177	broad.mit.edu	37	6	32150719	32150719	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:32150719G>T	ENST00000375076.4	-	6	691	c.590C>A	c.(589-591)gCc>gAc	p.A197D	AGER_ENST00000438221.2_Missense_Mutation_p.A213D|AGER_ENST00000375069.3_Missense_Mutation_p.A96D|AGER_ENST00000375070.3_Missense_Mutation_p.A228D|AGER_ENST00000375065.5_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.A197D|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375067.3_Missense_Mutation_p.A183D	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	197	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTCCCCGGGCTGGGGTCAC	0.617000													11	94					1.5739e-10	2.05622e-10	0.004007	1	0
SORCS2	57537	broad.mit.edu	37	4	7735048	7735048	+	Splice_Site	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr4:7735048G>A	ENST00000507866.2	+	24	3217		c.e24-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGCTTGCAGAGGCTCGCCG	0.652000													2	2					0	0	0.004672	0	0
MUC5B	727897	broad.mit.edu	37	11	1264977	1264977	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:1264977C>T	ENST00000447027.1	+	31	6934	c.6876C>T	c.(6874-6876)agC>agT	p.S2292S	MUC5B_ENST00000529681.1_Silent_p.S2289S|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2289	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACACCCAGCAAGACCCGCA	0.677000													22	95					0	0	0.003954	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033684	26033684	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:26033684C>A	ENST00000259791.2	-	1	112	c.113G>T	c.(112-114)gGc>gTc	p.G38V		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	38				GN -> AH (in Ref. 1; CAA24951).	nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GGAGTAGTTGCCTTTGCGGAG	0.652000													14	93					3.27435e-08	4.0492e-08	0.002450	1	0
MACF1	23499	broad.mit.edu	37	1	39792914	39792914	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:39792914A>C	ENST00000564288.1	+	36	5280	c.4503A>C	c.(4501-4503)caA>caC	p.Q1501H	MACF1_ENST00000539005.1_Missense_Mutation_p.Q1506H|MACF1_ENST00000545844.1_Missense_Mutation_p.Q1506H|MACF1_ENST00000567887.1_Missense_Mutation_p.Q1538H|MACF1_ENST00000361689.2_Missense_Mutation_p.Q1506H|MACF1_ENST00000372915.3_Missense_Mutation_p.Q1506H|MACF1_ENST00000317713.7_Missense_Mutation_p.Q1506H|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAAGAAACAAATATCTGAGC	0.393000													8	19					0	0	0.004482	0	0
DPEP1	1800	broad.mit.edu	37	16	89702704	89702704	+	Silent	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:89702704G>A	ENST00000393092.3	+	4	561	c.270G>A	c.(268-270)caG>caA	p.Q90Q	DPEP1_ENST00000261615.4_Silent_p.Q90Q|DPEP1_ENST00000421184.1_Silent_p.Q90Q	NM_004413.3	NP_004404.1	P16444	DPEP1_HUMAN	dipeptidase 1 (renal)	90					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GCGACACCCAGAACAAAGACG	0.652000													9	24					0	0	0.004482	0	0
COL13A1	1305	broad.mit.edu	37	10	71677072	71677072	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr10:71677072G>T	ENST00000356340.3	+	17	1515	c.979G>T	c.(979-981)Ggc>Tgc	p.G327C	COL13A1_ENST00000398978.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398974.3_Missense_Mutation_p.G315C|COL13A1_ENST00000398966.3_Missense_Mutation_p.G305C|COL13A1_ENST00000357811.3_Missense_Mutation_p.G305C|COL13A1_ENST00000398969.3_Missense_Mutation_p.G270C|COL13A1_ENST00000520267.1_Missense_Mutation_p.G270C|COL13A1_ENST00000398968.3_Missense_Mutation_p.G308C|COL13A1_ENST00000398971.3_Missense_Mutation_p.G327C|COL13A1_ENST00000354547.3_Missense_Mutation_p.G305C|COL13A1_ENST00000522165.1_Missense_Mutation_p.G308C|COL13A1_ENST00000517713.1_Missense_Mutation_p.G305C|COL13A1_ENST00000520133.1_Missense_Mutation_p.G276C|COL13A1_ENST00000398973.3_Missense_Mutation_p.G327C|COL13A1_ENST00000398964.3_Missense_Mutation_p.G298C|COL13A1_ENST00000398972.3_Missense_Mutation_p.G327C			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	327	Triple-helical region 2 (COL2).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGATGCCAGGCAAGCATGG	0.632000													11	22					2.27111e-07	2.74567e-07	0.001368	1	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143882	61143882	+	RNA	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr20:61143882G>A	ENST00000475015.1	-	0	456				C20orf166-AS1_ENST00000412495.1_RNA																							GGGGCCTCTCGCTGGGAGCTG	0.652000													16	76					0	0	0.003163	0	0
LRP2	4036	broad.mit.edu	37	2	170055331	170055331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:170055331C>T	ENST00000263816.3	-	45	8828	c.8543G>A	c.(8542-8544)tGt>tAt	p.C2848Y		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2848	LDL-receptor class A 19.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTATCTCCACAGTCATTGTC	0.378000													8	20					0	0	0.003080	0	0
ITGAV	3685	broad.mit.edu	37	2	187506226	187506226	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:187506226A>T	ENST00000261023.3	+	12	1344	c.1070A>T	c.(1069-1071)cAg>cTg	p.Q357L	ITGAV_ENST00000374907.3_Missense_Mutation_p.Q321L|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000433736.2_Missense_Mutation_p.Q311L	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	357					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGAGACTTCCAGACGACAAAG	0.493000													52	141					0	0	0.003610	0	0
SPTBN2	6712	broad.mit.edu	37	11	66454940	66454940	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:66454940C>T	ENST00000533211.1	-	35	7011	c.6680G>A	c.(6679-6681)cGc>cAc	p.R2227H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2227H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2227H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2227	PH.				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTGCTTGCGGCACAGCAT	0.642000													44	73					0	0	0.003214	0	0
OVGP1	5016	broad.mit.edu	37	1	111969225	111969225	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:111969225C>A	ENST00000369732.3	-	3	149	c.94G>T	c.(94-96)Gca>Tca	p.A32S	OVGP1_ENST00000540696.1_5'UTR	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	32					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CGACTGTGTGCCCAGTTGGTG	0.532000													9	28					9.70103e-10	1.25725e-09	0.008291	1	0
HLA-B	3106	broad.mit.edu	37	6	31323330	31323330	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:31323330T>G	ENST00000412585.2	-	4	687	c.659A>C	c.(658-660)gAc>gCc	p.D220A		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GGCCTCATGGTCAGAGATGGG	0.582000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				27	175					0	0	0.006999	0	0
MC2R	4158	broad.mit.edu	37	18	13885467	13885467	+	Silent	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr18:13885467A>G	ENST00000327606.3	-	2	231	c.51T>C	c.(49-51)aaT>aaC	p.N17N		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	17					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGTCGGAATTATTTCTTGCTG	0.433000													9	39					0	0	0.006214	0	0
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T	rs140995428	by1000genomes	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632000													4	66					0	0	0.000602	0	0
AGER	177	broad.mit.edu	37	6	32150723	32150723	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:32150723G>C	ENST00000375076.4	-	6	687	c.586C>G	c.(586-588)Cca>Gca	p.P196A	AGER_ENST00000438221.2_Missense_Mutation_p.P212A|AGER_ENST00000375069.3_Missense_Mutation_p.P95A|AGER_ENST00000375070.3_Missense_Mutation_p.P227A|AGER_ENST00000375065.5_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.P196A|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375067.3_Missense_Mutation_p.P182A	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	196	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCCCGGGCTGGGGTCACCATT	0.607000													10	94					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179595244	179595244	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:179595244G>T	ENST00000589042.1	-	61	18240	c.18016C>A	c.(18016-18018)Ctg>Atg	p.L6006M	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L4762M|TTN_ENST00000591111.1_Missense_Mutation_p.L5689M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5689	Ig-like 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGACTGTCAGATGCCCACTG	0.378000													29	86					1.22384e-17	1.62509e-17	0.002836	1	0
FCGBP	8857	broad.mit.edu	37	19	40392569	40392569	+	Silent	SNP	G	G	A	rs142183229	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr19:40392569G>A	ENST00000221347.6	-	16	7942	c.7935C>T	c.(7933-7935)agC>agT	p.S2645S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2645	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GACACTCCTCGCTGGGGATAC	0.657000													16	50					0	0	0.003163	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125686191	125686191	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:125686191G>C	ENST00000371126.1	-	1	643	c.401C>G	c.(400-402)cCc>cGc	p.P134R		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	134										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCGCAAGAGGGGAATGCGCGC	0.632000													17	72					0	0	0.004990	0	0
PDZD7	79955	broad.mit.edu	37	10	102777943	102777943	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr10:102777943T>C	ENST00000370215.3	-	9	1660	c.1435A>G	c.(1435-1437)Agg>Ggg	p.R479G		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	479						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGCGCTAGCCTCCCCTGCCGC	0.637000													21	60					0	0	0.001523	0	0
CRB2	286204	broad.mit.edu	37	9	126125359	126125359	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr9:126125359C>T	ENST00000373631.3	+	2	311	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	CRB2_ENST00000359999.3_Missense_Mutation_p.R104C	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	104	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CCAGGGCCCACGCTGCGAGCT	0.682000													8	39					0	0	0.004482	0	0
COQ6	51004	broad.mit.edu	37	14	74426168	74426168	+	Silent	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr14:74426168A>C	ENST00000334571.2	+	8	874	c.834A>C	c.(832-834)gcA>gcC	p.A278A	COQ6_ENST00000394026.4_Silent_p.A253A|COQ6_ENST00000238709.4_Silent_p.A203A|ENTPD5_ENST00000557325.1_3'UTR|COQ6_ENST00000554920.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	278					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ATGAACATGCAGCAGAGCTAG	0.483000													18	110					0	0	0.004990	0	0
FCHO1	23149	broad.mit.edu	37	19	17892312	17892312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr19:17892312T>A	ENST00000594202.1	+	22	2071	c.1792T>A	c.(1792-1794)Ttg>Atg	p.L598M	FCHO1_ENST00000389133.4_Missense_Mutation_p.L598M|FCHO1_ENST00000252771.7_Missense_Mutation_p.L598M|FCHO1_ENST00000597512.1_Missense_Mutation_p.L605M|FCHO1_ENST00000595033.1_Missense_Mutation_p.L548M|FCHO1_ENST00000596536.1_Missense_Mutation_p.L598M|FCHO1_ENST00000600676.1_Missense_Mutation_p.L598M|FCHO1_ENST00000539407.1_Missense_Mutation_p.L598M|FCHO1_ENST00000596951.1_Missense_Mutation_p.L598M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	598										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						CAGCACTGCCTTGGAACGGCC	0.622000													18	61					0	0	0.006122	0	0
ZXDB	158586	broad.mit.edu	37	X	57619372	57619372	+	Silent	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:57619372C>T	ENST00000374888.1	+	1	1104	c.891C>T	c.(889-891)agC>agT	p.S297S		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	297	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CGCACAGCAGCAGCCAGGGCC	0.642000													4	12					0	0	0.000248	0	0
AKAP4	8852	broad.mit.edu	37	X	49957377	49957377	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:49957377C>A	ENST00000376056.2	-	5	2110	c.1960G>T	c.(1960-1962)Gca>Tca	p.A654S	AKAP4_ENST00000376058.2_Missense_Mutation_p.A280S|AKAP4_ENST00000376064.3_Missense_Mutation_p.A654S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.A663S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	663					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATGGAAGCTGCTTTGCTTGCC	0.478000													11	47					3.86212e-05	4.53379e-05	0.008291	1	0
PCSK5	5125	broad.mit.edu	37	9	78796390	78796390	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr9:78796390G>A	ENST00000545128.1	+	16	2618	c.2080G>A	c.(2080-2082)Gag>Aag	p.E694K	PCSK5_ENST00000376752.4_Missense_Mutation_p.E694K	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	694	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCCAACTGTGAGTCCTGCTT	0.517000													15	49					0	0	0.003163	0	0
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	T	rs144217264		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:152277569C>T	ENST00000368799.1	-	3	9828	c.9793G>A	c.(9793-9795)Ggg>Agg	p.G3265R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582000									Ichthyosis				219	333					0	0	0.003610	0	0
SLF2	55719	broad.mit.edu	37	10	102706839	102706839	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr10:102706839C>T	ENST00000238961.3	+	14	3126	c.2978C>T	c.(2977-2979)cCc>cTc	p.P993L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P993L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	993																	TCCAGTCATCCCCACAACCTC	0.363000													26	85					0	0	0.002096	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43636551	43636551	+	Splice_Site	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:43636551C>T	ENST00000431635.2	-	5	637		c.e5-1		EBNA1BP2_ENST00000236051.2_Splice_Site	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2						ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTGGCGATAGCTGAGAATCGT	0.512000													45	88					0	0	0.003610	0	0
TMEM62	80021	broad.mit.edu	37	15	43446919	43446919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr15:43446919G>C	ENST00000260403.2	+	9	1351	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	358						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTAAGATTGATGGAGTTCA	0.388000													4	33					0	0	0.000602	0	0
TPD52	7163	broad.mit.edu	37	8	80915385	80915385	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr8:80915385A>G	ENST00000537855.1	-	6	907	c.586T>C	c.(586-588)Tct>Cct	p.S196P	MRPS28_ENST00000276585.4_Missense_Mutation_p.S82P|MRPS28_ENST00000521434.1_Intron|MRPS28_ENST00000521605.1_Intron|MRPS28_ENST00000522987.1_Intron			P55327	TPD52_HUMAN	tumor protein D52	0					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			CTCAGCATAGATGCAAAGGAT	0.338000													8	37					0	0	0.003080	0	0
CFL1	1072	broad.mit.edu	37	11	65623524	65623524	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:65623524C>T	ENST00000525451.2	-	3	908	c.193G>A	c.(193-195)Gac>Aac	p.D65N	CFL1_ENST00000524553.1_Missense_Mutation_p.D48N|CFL1_ENST00000527344.1_Missense_Mutation_p.D48N|CFL1_ENST00000308162.5_Missense_Mutation_p.D65N|CFL1_ENST00000534769.1_Missense_Mutation_p.D103N|CFL1_ENST00000531407.1_Missense_Mutation_p.D48N|CFL1_ENST00000531413.1_Missense_Mutation_p.D48N			P23528	COF1_HUMAN	cofilin 1 (non-muscle)	65	ADF-H.				actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		TAGGGGTCGTCGACAGTCTGG	0.562000													51	71					0	0	0.003610	0	0
MORF4L2	9643	broad.mit.edu	37	X	102931661	102931661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chrX:102931661G>A	ENST00000423833.2	-	3	1520	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	MORF4L2_ENST00000360458.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000372620.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R99W|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000441076.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R99W|MORF4L2_ENST00000433176.2_Missense_Mutation_p.R99W			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	99					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTTTTCTTCCGAGGGGGCTGA	0.512000													34	134					0	0	0.002836	0	0
CSMD3	114788	broad.mit.edu	37	8	113347673	113347673	+	Silent	SNP	G	G	A	rs142588028		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr8:113347673G>A	ENST00000297405.5	-	45	7294	c.7050C>T	c.(7048-7050)atC>atT	p.I2350I	CSMD3_ENST00000455883.2_Silent_p.I2246I|CSMD3_ENST00000343508.3_Silent_p.I2310I|CSMD3_ENST00000352409.3_Silent_p.I2280I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2350	CUB 13.					integral to membrane|plasma membrane		p.I2350I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGAACTGACCGATCTGAGGTG	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			33	13					0	0	0.003755	0	0
MYO3B	140469	broad.mit.edu	37	2	171055899	171055899	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:171055899A>T	ENST00000334231.6	+	2	211	c.211A>T	c.(211-213)Agt>Tgt	p.S71C	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S62C|MYO3B_ENST00000408978.4_Missense_Mutation_p.S62C			Q8WXR4	MYO3B_HUMAN	myosin IIIB	62	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGATCCAGTCAGTGTAAGTAA	0.363000													3	14					0	0	0.000248	0	0
HIST1H4I	8294	broad.mit.edu	37	6	27107126	27107126	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr6:27107126A>C	ENST00000354348.2	+	1	51	c.39A>C	c.(37-39)aaA>aaC	p.K13N	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	13					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						GCCTGGGGAAAGGGGGTGCCA	0.597000			T	BCL6	NHL								19	51					0	0	0.007413	0	0
IL9	3578	broad.mit.edu	37	5	135231263	135231263	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:135231263T>G	ENST00000274520.1	-	2	141	c.131A>C	c.(130-132)aAg>aCg	p.K44T		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	44					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCAGTGGCACTTGGAAGCTGG	0.378000													18	79					0	0	0.008871	0	0
NPAP1	23742	broad.mit.edu	37	15	24922410	24922410	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr15:24922410C>T	ENST00000329468.2	+	1	1870	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TCTGGCTCTTCCTGCTGACCT	0.498000													44	158					0	0	0.002222	0	0
AKAP10	11216	broad.mit.edu	37	17	19835125	19835125	+	Missense_Mutation	SNP	G	G	A	rs139003893		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:19835125G>A	ENST00000225737.6	-	10	1791	c.1634C>T	c.(1633-1635)gCg>gTg	p.A545V	AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	545					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TACCTGAGACGCAGAGCTGTC	0.483000													10	48					0	0	0.008291	0	0
ZNF425	155054	broad.mit.edu	37	7	148802572	148802572	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:148802572T>C	ENST00000378061.2	-	4	523	c.391A>G	c.(391-393)Aaa>Gaa	p.K131E		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTTCTCTCTTTCCCTCGTAAG	0.428000													3	84					0	0	0.004672	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232626732	232626732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:232626732G>A	ENST00000366630.1	-	4	2052	c.1694C>T	c.(1693-1695)cCt>cTt	p.P565L	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P565L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	565					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTTTGAGAGGTAGTCCTCG	0.468000													12	62					0	0	0.000978	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395563	43395564	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:43395563_43395564insTCGT	ENST00000426263.3	-	5	837_838	c.659_660insACGA	c.(658-660)ggafs	p.G220fs	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	220					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCCGGTTCTCCTCGTTGCGGTT	0.653													21	134	---	---	---	---					
STIL	6491	broad.mit.edu	37	1	47726187	47726202	+	Frame_Shift_Del	DEL	TATTTAATAGGTGGTT	TATTTAATAGGTGGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr1:47726187_47726202delTATTTAATAGGTGGTT	ENST00000360380.3	-	17	3199_3214	c.2836_2851delAACCACCTATTAAATA	c.(2836-2853)gtfs	p.NHLLNS946fs	STIL_ENST00000337817.5_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.NHLLNS929fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NHLLNS947fs			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	946					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGAGGAACTATTTAATAGGTGGTTTACTTGACCC	0.370													26	120	---	---	---	---					
CLEC4F	165530	broad.mit.edu	37	2	71044191	71044202	+	In_Frame_Del	DEL	TAAATGTCTGGA	TAAATGTCTGGA	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr2:71044191_71044202delTAAATGTCTGGA	ENST00000272367.2	-	4	387_398	c.311_322delTCCAGACATTTA	c.(310-324)aaa>a	p.IQTFK104del	CLEC4F_ENST00000426626.1_In_Frame_Del_p.IQTFK104del	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	104					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGTGGCCTTTAAATGTCTGGATAAGCTCTCG	0.491													7	51	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159257	41159257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:41159257delG	ENST00000263413.3	-	12	2047	c.1783delC	c.(1783-1785)aafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Del_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCCTCGTTGGGGGGCAGGA	0.498													22	114	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137727094	137727097	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr5:137727094_137727097delGAAA	ENST00000314358.5	+	8	1973_1976	c.1773_1776delGAAA	c.(1771-1776)cgfs	p.RK591fs	KDM3B_ENST00000394866.1_Frame_Shift_Del_p.RK247fs|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTGGACCGGAAAGTGCCTGCAG	0.544													18	85	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													5	8	---	---	---	---					
GTF2IRD2	84163	broad.mit.edu	37	7	74211326	74211327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr7:74211326_74211327insT	ENST00000405086.2	-	16	2713_2714	c.2524_2525insA	c.(2524-2526)ctafs	p.L842fs	GTF2IRD2_ENST00000451013.2_Frame_Shift_Ins_p.L389fs	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						gctttcgtagagtttgaaatca	0.490													12	65	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100871564	100871572	+	In_Frame_Del	DEL	AGCCCTGCA	AGCCCTGCA	-	rs61754107	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr8:100871564_100871572delAGCCCTGCA	ENST00000358544.2	+	57	11086_11094	c.10975_10983delAGCCCTGCA	c.(10975-10983)del	p.SPA3659del	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_In_Frame_Del_p.SPA3634del	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3659					protein transport			p.P3635R(1)|p.P3660R(1)		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)			TATTCTTGGCAGCCCTGCAAGCCTGGTGA	0.560													10	127	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21968234	21968234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr9:21968234delG	ENST00000304494.5	-	3	735	c.465delC	c.(463-465)ccfs	p.P155fs	CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs|CDKN2A_ENST00000498124.1_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.P104fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	155					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(4)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTTTCAATCGGGGATGTCTG	0.557		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			28	21	---	---	---	---					
DNHD1	144132	broad.mit.edu	37	11	6588483	6588483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr11:6588483delC	ENST00000254579.6	+	36	12308	c.11744delC	c.(11743-11745)acfs	p.T3915fs	DNHD1_ENST00000527990.2_Frame_Shift_Del_p.T3915fs	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3915					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACACCTGACCCGCCAGCTG	0.587													23	137	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20249046	20249046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:20249046delT	ENST00000315957.4	+	1	646	c.565delT	c.(565-567)gtfs	p.C189fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATTGCCTGTGCCAACAC	0.458													37	271	---	---	---	---					
OTX2	5015	broad.mit.edu	37	14	57268457	57268457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr14:57268457delA	ENST00000339475.5	-	5	1166	c.890delT	c.(889-891)tgfs	p.L297fs	OTX2_ENST00000408990.3_Frame_Shift_Del_p.L289fs|OTX2_ENST00000555006.1_Frame_Shift_Del_p.L289fs	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	289					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGTCTTCACAAAACCTGGAA	0.408													14	73	---	---	---	---					
MMP15	4324	broad.mit.edu	37	16	58077474	58077475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr16:58077474_58077475insG	ENST00000219271.3	+	9	2298_2299	c.1513_1514insG	c.(1513-1515)tgtfs	p.C505fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	505	Hemopexin-like 3.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAGCCCATCAGTGTCTGGCAG	0.599													11	39	---	---	---	---					
PIP4K2B	8396	broad.mit.edu	37	17	36927448	36927450	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr17:36927448_36927450delCTC	ENST00000269554.3	-	8	1363_1365	c.883_885delGAG	c.(883-885)del	p.E295del		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	295	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ccacctccatctcctcctgctcT	0.596													8	40	---	---	---	---					
PXMP4	11264	broad.mit.edu	37	20	32307907	32307911	+	Frame_Shift_Del	DEL	CCGTT	CCGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr20:32307907_32307911delCCGTT	ENST00000409299.3	-	1	195_199	c.103_107delAACGG	c.(103-108)gfs	p.NG35fs	PXMP4_ENST00000217398.3_Frame_Shift_Del_p.NG35fs|PXMP4_ENST00000344022.3_Frame_Shift_Del_p.NG35fs	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	35						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TCACACAGCCCCGTTCCGGAAGCCC	0.688													14	92	---	---	---	---					
NRIP1	8204	broad.mit.edu	37	21	16337046	16337049	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-10A-01D-2013-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	90409946-46de-41a9-bb8a-b495ce346df2	g.chr21:16337046_16337049delTTCT	ENST00000400202.1	-	3	4177_4180	c.3465_3468delAGAA	c.(3463-3468)aafs	p.KE1155fs	NRIP1_ENST00000318948.4_Frame_Shift_Del_p.KE1155fs|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.KE1155fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1155	Repression domain 4.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTATTCTGATTCTTTCTTTATCG	0.373													23	58	---	---	---	---					
SLC2A1	6513	broad.mit.edu	37	1	43395563	43395564	+	Frame_Shift_Ins	INS	-	-	TCGT			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:43395563_43395564insTCGT	ENST00000426263.3	-	5	837_838	c.659_660insACGA	c.(658-660)ggafs	p.G220fs	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	220					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCCGGTTCTCCTCGTTGCGGTT	0.653													21	134	---	---	---	---					
STIL	6491	broad.mit.edu	37	1	47726187	47726202	+	Frame_Shift_Del	DEL	TATTTAATAGGTGGTT	TATTTAATAGGTGGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr1:47726187_47726202delTATTTAATAGGTGGTT	ENST00000360380.3	-	17	3199_3214	c.2836_2851delAACCACCTATTAAATA	c.(2836-2853)gtfs	p.NHLLNS946fs	STIL_ENST00000337817.5_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000243182.6_Frame_Shift_Del_p.NHLLNS946fs|STIL_ENST00000396221.2_Frame_Shift_Del_p.NHLLNS929fs|STIL_ENST00000371877.3_Frame_Shift_Del_p.NHLLNS947fs			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	946					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTGGAGGAACTATTTAATAGGTGGTTTACTTGACCC	0.370													26	120	---	---	---	---					
CLEC4F	165530	broad.mit.edu	37	2	71044191	71044202	+	In_Frame_Del	DEL	TAAATGTCTGGA	TAAATGTCTGGA	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr2:71044191_71044202delTAAATGTCTGGA	ENST00000272367.2	-	4	387_398	c.311_322delTCCAGACATTTA	c.(310-324)aaa>a	p.IQTFK104del	CLEC4F_ENST00000426626.1_In_Frame_Del_p.IQTFK104del	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	104					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						ATGTGGCCTTTAAATGTCTGGATAAGCTCTCG	0.491													7	51	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159257	41159257	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:41159257delG	ENST00000263413.3	-	12	2047	c.1783delC	c.(1783-1785)aafs	p.Q595fs	C6_ENST00000337836.5_Frame_Shift_Del_p.Q595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCTCCTCGTTGGGGGGCAGGA	0.498													22	114	---	---	---	---					
KDM3B	51780	broad.mit.edu	37	5	137727094	137727097	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr5:137727094_137727097delGAAA	ENST00000314358.5	+	8	1973_1976	c.1773_1776delGAAA	c.(1771-1776)cgfs	p.RK591fs	KDM3B_ENST00000542866.1_Intron|KDM3B_ENST00000394866.1_Frame_Shift_Del_p.RK247fs	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	591					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CTGTGGACCGGAAAGTGCCTGCAG	0.544													18	85	---	---	---	---					
GTF2IRD2	84163	broad.mit.edu	37	7	74211326	74211327	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr7:74211326_74211327insT	ENST00000405086.2	-	16	2713_2714	c.2524_2525insA	c.(2524-2526)ctafs	p.L842fs	GTF2IRD2_ENST00000451013.2_Frame_Shift_Ins_p.L389fs	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	842					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						gctttcgtagagtttgaaatca	0.490													12	65	---	---	---	---					
VPS13B	157680	broad.mit.edu	37	8	100871564	100871572	+	In_Frame_Del	DEL	AGCCCTGCA	AGCCCTGCA	-	rs61754107	byFrequency	TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr8:100871564_100871572delAGCCCTGCA	ENST00000358544.2	+	57	11086_11094	c.10975_10983delAGCCCTGCA	c.(10975-10983)del	p.SPA3659del	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_In_Frame_Del_p.SPA3634del	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3659					protein transport			p.P3635R(1)|p.P3660R(1)		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)			TATTCTTGGCAGCCCTGCAAGCCTGGTGA	0.560													10	127	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21968234	21968234	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr9:21968234delG	ENST00000304494.5	-	3	735	c.465delC	c.(463-465)ccfs	p.P155fs	CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.R131fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.P104fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000498124.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	155					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(4)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTTTCAATCGGGGATGTCTG	0.557		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			28	21	---	---	---	---					
DNHD1	144132	broad.mit.edu	37	11	6588483	6588483	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr11:6588483delC	ENST00000254579.6	+	36	12308	c.11744delC	c.(11743-11745)acfs	p.T3915fs	DNHD1_ENST00000527990.2_Frame_Shift_Del_p.T3915fs	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3915					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCACACCTGACCCGCCAGCTG	0.587													23	137	---	---	---	---					
OR4M1	441670	broad.mit.edu	37	14	20249046	20249046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr14:20249046delT	ENST00000315957.4	+	1	646	c.565delT	c.(565-567)gtfs	p.C189fs		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCGGATTGCCTGTGCCAACAC	0.458													37	271	---	---	---	---					
OTX2	5015	broad.mit.edu	37	14	57268457	57268457	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr14:57268457delA	ENST00000339475.5	-	5	1166	c.890delT	c.(889-891)tgfs	p.L297fs	OTX2_ENST00000408990.3_Frame_Shift_Del_p.L289fs|OTX2_ENST00000555006.1_Frame_Shift_Del_p.L289fs	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	289					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					AGGTCTTCACAAAACCTGGAA	0.408													14	73	---	---	---	---					
ABCA17P	650655	broad.mit.edu	37	16	2475097	2475098	+	RNA	DEL	TC	TC	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:2475097_2475098delTC	ENST00000469908.1	+	0	3047					NR_003574.1																						GGTAActctgtctctctctctc	0.559													3	3	---	---	---	---					
MMP15	4324	broad.mit.edu	37	16	58077474	58077475	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr16:58077474_58077475insG	ENST00000219271.3	+	9	2298_2299	c.1513_1514insG	c.(1513-1515)tgtfs	p.C505fs		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	505	Hemopexin-like 3.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CAAGCCCATCAGTGTCTGGCAG	0.599													11	39	---	---	---	---					
PIP4K2B	8396	broad.mit.edu	37	17	36927448	36927450	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr17:36927448_36927450delCTC	ENST00000269554.3	-	8	1363_1365	c.883_885delGAG	c.(883-885)del	p.E295del		NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	295	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						ccacctccatctcctcctgctcT	0.596													8	40	---	---	---	---					
ZNF66	7617	broad.mit.edu	37	19	20990110	20990111	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr19:20990110_20990111insG	ENST00000344519.8	+	4	1727_1728	c.1704_1705insG	c.(1702-1707)gaatgtfs	p.C569fs	ZNF66_ENST00000425625.1_Intron																							ACAAATGTGAAAATGTGGCAAA	0.381													3	3	---	---	---	---					
PXMP4	11264	broad.mit.edu	37	20	32307907	32307911	+	Frame_Shift_Del	DEL	CCGTT	CCGTT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr20:32307907_32307911delCCGTT	ENST00000409299.3	-	1	195_199	c.103_107delAACGG	c.(103-108)gfs	p.NG35fs	PXMP4_ENST00000344022.3_Frame_Shift_Del_p.NG35fs|PXMP4_ENST00000217398.3_Frame_Shift_Del_p.NG35fs	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	35						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TCACACAGCCCCGTTCCGGAAGCCC	0.688													14	92	---	---	---	---					
NRIP1	8204	broad.mit.edu	37	21	16337046	16337049	+	Frame_Shift_Del	DEL	TTCT	TTCT	-			TCGA-CV-7255-01A-11D-2012-08	TCGA-CV-7255-11A-01D-2012-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dedba61-e137-4ae4-8312-94231e3b1d16	85082145-d2dc-4ba2-9428-17f2ceeac77e	g.chr21:16337046_16337049delTTCT	ENST00000400202.1	-	3	4177_4180	c.3465_3468delAGAA	c.(3463-3468)aafs	p.KE1155fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.KE1155fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.KE1155fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1155	Repression domain 4.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTATTCTGATTCTTTCTTTATCG	0.373													23	58	---	---	---	---