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
FNDC1	84624	broad.mit.edu	37	6	159646637	159646637	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:159646637C>T	ENST00000297267.9	+	8	1155	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	FNDC1_ENST00000340366.6_Missense_Mutation_p.R319C|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	319	Fibronectin type-III 3.					extracellular region		p.R319C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGCTAACAGGCGTGTGCTGAT	0.468000													17	378					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52052599	52052599	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:52052599C>T	ENST00000340057.1	+	2	271	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	76					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.L76F(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACCTTGGAATCTCCAGTACGT	0.418000													25	114					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857046	9857046	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:9857046C>T	ENST00000396573.2	-	14	4664	c.4355G>A	c.(4354-4356)cGc>cAc	p.R1452H	GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1452H|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1452H|GRIN2A_ENST00000535259.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1452					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1452H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTTGTACACGCGTCTATTGCT	0.363000													13	124					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50474938	50474938	+	RNA	SNP	C	C	G	rs138936320	by1000genomes	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:50474938C>G	ENST00000602139.1	+	0	1013									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						TCCAGAGAACCTGAGAGTGAT	0.592000													63	122					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216246606	216246606	+	Missense_Mutation	SNP	C	C	A	rs111033409		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:216246606C>A	ENST00000366943.2	-	28	5995	c.5609G>T	c.(5608-5610)cGg>cTg	p.R1870L	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.R1870L|RP11-22M7.2_ENST00000446411.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1870	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R1870L(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACAGCACCCCGTGTAAATTT	0.433000										HNSCC(13;0.011)			16	72					0.000566183	0.000602649	1	1	0
EEF2	1938	broad.mit.edu	37	19	3976626	3976626	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:3976626C>A	ENST00000309311.6	-	15	2591	c.2503G>T	c.(2503-2505)Gtg>Ttg	p.V835L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	835						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.V835L(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCTCCGCCACCACCTGGCTG	0.657000													9	10					2.17888e-05	2.43476e-05	1	1	0
DIS3L2	129563	broad.mit.edu	37	2	233195486	233195486	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:233195486G>T	ENST00000325385.7	+	16	2286	c.2010_splice	c.e16+1	p.Q670_splice	DIS3L2_ENST00000409307.1_Splice_Site_p.Q670_splice|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	670							exonuclease activity|ribonuclease activity|RNA binding	p.Q670H(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGCCCATGCAGGTAAGGAGGG	0.612000													91	233					7.61764e-41	1.27231e-40	1	1	0
ALDH1B1	219	broad.mit.edu	37	9	38395945	38395945	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:38395945A>T	ENST00000377698.3	+	2	353	c.200A>T	c.(199-201)cAc>cTc	p.H67L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	67					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.H67F(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GTCATTGGGCACGTGGCTGAA	0.607000													44	120					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569185	55569185	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:55569185C>G	ENST00000395445.1	-	36	5019	c.4625G>C	c.(4624-4626)aGa>aCa	p.R1542T	PCDH15_ENST00000395440.1_Missense_Mutation_p.R476T|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Missense_Mutation_p.R407T|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.R738T|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCTGGCTCTCTTCCATGT	0.428000										HNSCC(58;0.16)			85	171					0	0	1	0	0
SOX11	6664	broad.mit.edu	37	2	5833563	5833563	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:5833563T>A	ENST00000322002.3	+	1	765	c.710T>A	c.(709-711)cTg>cAg	p.L237Q		NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	237					cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis	cytoplasm|nucleolus	enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding	p.L237Q(1)		central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		gaGCTGCAGCTGCAGATCAAA	0.687000													11	14					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967241	93967241	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:93967241C>A	ENST00000369303.4	-	12	2295	c.2110_splice	c.e12-1	p.G704_splice		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	704	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.G704V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GACTGGTTTCCCTAAAATTAA	0.368000													27	29					7.26314e-15	9.6229e-15	1	1	0
DICER1	23405	broad.mit.edu	37	14	95556997	95556997	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:95556997C>A	ENST00000541352.1	-	25	5452	c.5444G>T	c.(5443-5445)cGg>cTg	p.R1815L	DICER1_ENST00000526495.1_Silent_p.P1869P|DICER1_ENST00000343455.3_Silent_p.P1869P|DICER1_ENST00000527416.2_5'UTR|DICER1_ENST00000393063.1_Silent_p.P1869P|DICER1_ENST00000527414.1_Silent_p.P1869P|DICER1_ENST00000556045.1_Silent_p.P767P	NM_001195573.1	NP_001182502.1	Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	0	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.P1869P(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTCTCTCAGCCGGGCTGTAAA	0.433000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				132	273					4.74804e-72	8.56831e-72	1	1	0
FAM65C	140876	broad.mit.edu	37	20	49218951	49218951	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:49218951G>A	ENST00000327979.2	-	13	1716	c.1305C>T	c.(1303-1305)caC>caT	p.H435H	FAM65C_ENST00000535356.1_Silent_p.H439H|FAM65C_ENST00000045083.2_Silent_p.H435H			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	435								p.H435H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAATGGAGGCGTGGGGACCGA	0.652000													30	90					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97158866	97158866	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:97158866C>G	ENST00000371247.2	-	12	1255	c.1066G>C	c.(1066-1068)Gaa>Caa	p.E356Q	SORBS1_ENST00000371241.1_Missense_Mutation_p.E192Q|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000607232.1_Missense_Mutation_p.E191Q|SORBS1_ENST00000371227.4_Missense_Mutation_p.E356Q|SORBS1_ENST00000354106.3_Missense_Mutation_p.E347Q|SORBS1_ENST00000371249.2_Missense_Mutation_p.E324Q|SORBS1_ENST00000361941.3_Missense_Mutation_p.E356Q|SORBS1_ENST00000277982.5_Missense_Mutation_p.E356Q|SORBS1_ENST00000371245.3_Missense_Mutation_p.E287Q|SORBS1_ENST00000353505.5_Missense_Mutation_p.E287Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E201Q|SORBS1_ENST00000371246.2_Missense_Mutation_p.E356Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E347Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.E224Q|SORBS1_ENST00000306402.6_Missense_Mutation_p.E233Q			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	356					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity	p.E287Q(1)|p.E356Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GCTCTTTTTTCAATAGCCTTG	0.493000													25	65					0	0	1	0	0
CCHCR1	54535	broad.mit.edu	37	6	31113225	31113225	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:31113225C>A	ENST00000396268.3	-	12	1927	c.1739_splice	c.e12+1	p.S580_splice	CCHCR1_ENST00000376266.5_Splice_Site_p.S491_splice|CCHCR1_ENST00000451521.2_Splice_Site_p.S544_splice|CCHCR1_ENST00000396263.2_Intron	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	491					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	p.S491I(1)|p.S580I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CAAACTTCACCTCTCCTGGCG	0.552000													40	91					2.13384e-23	3.08767e-23	1	1	0
GGT5	2687	broad.mit.edu	37	22	24621594	24621594	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:24621594C>A	ENST00000327365.4	-	9	1672	c.1256G>T	c.(1255-1257)cGg>cTg	p.R419L	GGT5_ENST00000263112.7_Missense_Mutation_p.R387L|GGT5_ENST00000418439.2_Missense_Mutation_p.R342L|GGT5_ENST00000398292.3_Missense_Mutation_p.R419L	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	419					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.R419L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GATGCCTGTCCGTGGTGAATA	0.617000													6	36					0.217242	0.218635	1	1	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973557	29973557	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:29973557C>A	ENST00000378993.1	+	11	2384	c.1711C>A	c.(1711-1713)Cag>Aag	p.Q571K	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.Q571K	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	571	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.Q571K(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TACACATGAGCAGGCTTTAGA	0.493000													17	19					1.5739e-10	1.92297e-10	1	1	0
LGR6	59352	broad.mit.edu	37	1	202287648	202287648	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:202287648G>T	ENST00000367278.3	+	18	2306	c.2217G>T	c.(2215-2217)atG>atT	p.M739I	LGR6_ENST00000255432.7_Missense_Mutation_p.M687I|LGR6_ENST00000439764.2_Missense_Mutation_p.M600I	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	739						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TGGTGATGATGAACTCCTTCT	0.637000													18	83					0.0438628	0.0445725	1	1	0
ACTN2	88	broad.mit.edu	37	1	236891000	236891000	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:236891000T>A	ENST00000366578.4	+	6	725	c.559T>A	c.(559-561)Tgt>Agt	p.C187S	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.C187S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	187	Actin-binding.|CH 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	p.C187S(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CCTTGGACTCTGTGCCCTCAT	0.547000													44	119					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579564	82579564	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:82579564G>A	ENST00000423517.2	-	6	10677	c.10340C>T	c.(10339-10341)aCg>aTg	p.T3447M	PCLO_ENST00000437081.1_Missense_Mutation_p.T167M|PCLO_ENST00000333891.8_Missense_Mutation_p.T3447M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3378					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T3447M(2)|p.T3378M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCGTCATCCGTTTGTACACC	0.433000													54	120					0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095868	101095868	+	Splice_Site	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:101095868C>A	ENST00000537026.1	-	9	840		c.e9-1		NXF5_ENST00000473265.2_Splice_Site|NXF5_ENST00000361708.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.?(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						AAGACAACAGCTTTGGGTCAA	0.483000													12	55					3.32936e-07	3.88632e-07	1	1	0
HCN1	348980	broad.mit.edu	37	5	45262097	45262097	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:45262097G>T	ENST00000303230.4	-	8	2656	c.2599C>A	c.(2599-2601)Ctt>Att	p.L867I		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	867						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.L867I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCTCTTGGAAGAGCAGCTGCT	0.552000													69	243					7.45626e-27	1.12561e-26	1	1	0
TCN1	6947	broad.mit.edu	37	11	59626664	59626664	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:59626664T>C	ENST00000257264.3	-	5	737	c.633A>G	c.(631-633)gaA>gaG	p.E211E	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	211					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.E211E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTAAACTGCCTTCATCTGCTT	0.388000													36	205					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43523176	43523176	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:43523176G>T	ENST00000401740.1	-	3	558	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000403486.1_Missense_Mutation_p.S30Y|PSG11_ENST00000320078.7_Missense_Mutation_p.S152Y|PSG11_ENST00000306322.7_Missense_Mutation_p.S30Y			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	152	Ig-like C2-type 1.				female pregnancy	extracellular region		p.S152Y(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GTTGCTGCTGGAGATGGAGGG	0.502000													84	303					1.69331e-39	2.79842e-39	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65272124	65272124	+	RNA	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:65272124T>C	ENST00000534336.1	+	0	6892					NR_002819.2																						TTTAGTCTTTTCCAGATGCAA	0.368000													18	47					0	0	1	0	0
ITGB1	3688	broad.mit.edu	37	10	33214878	33214878	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:33214878A>G	ENST00000396033.2	-	6	842	c.707T>C	c.(706-708)gTt>gCt	p.V236A	ITGB1_ENST00000423113.1_Missense_Mutation_p.V236A|ITGB1_ENST00000302278.3_Missense_Mutation_p.V236A|ITGB1_ENST00000374956.4_Missense_Mutation_p.V236A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	236	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	p.V236A(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CTGTTTTCCAACAAGTTCATT	0.413000													27	174					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38835490	38835490	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:38835490G>A	ENST00000449082.2	-	1	11	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	4					sensory perception	voltage-gated sodium channel complex		p.P4P(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGGATCCAATGGGGAATTCCA	0.473000													34	169					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113194879	113194879	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:113194879C>A	ENST00000401783.2	-	31	5432	c.5096G>T	c.(5095-5097)gGc>gTc	p.G1699V	SVEP1_ENST00000374469.1_Missense_Mutation_p.G1676V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1699	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.G1702V(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAATGGAAGCCATTCTCCAA	0.453000													57	173					9.59449e-18	1.33896e-17	1	1	0
PRDM7	11105	broad.mit.edu	37	16	90126823	90126823	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:90126823T>G	ENST00000449207.2	-	9	1178	c.1159A>C	c.(1159-1161)Atg>Ctg	p.M387L	PRDM7_ENST00000325921.6_Intron|PRDM7_ENST00000407825.1_Intron	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	387						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCATCCCCATACCAGACCAG	0.522000													4	147					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20034374	20034374	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:20034374C>A	ENST00000379651.3	-	10	1377	c.1359G>T	c.(1357-1359)aaG>aaT	p.K453N	MAP7D2_ENST00000452324.3_Missense_Mutation_p.K401N|MAP7D2_ENST00000443379.3_Missense_Mutation_p.K408N|MAP7D2_ENST00000379643.5_Missense_Mutation_p.K494N|MAP7D2_ENST00000543767.1_Missense_Mutation_p.K338N	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	453								p.K453N(1)|p.K494N(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						cttcttcctgctttcgggctt	0.493000													10	16					7.48243e-07	8.66968e-07	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77359897	77359897	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:77359897C>T	ENST00000282849.5	-	13	2316	c.1898G>A	c.(1897-1899)cGt>cAt	p.R633H		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	633	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTGATAAATACGGCTAGAACC	0.393000													12	115					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60183087	60183087	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:60183087C>A	ENST00000300187.6	+	5	923	c.646C>A	c.(646-648)Cct>Act	p.P216T	MS4A14_ENST00000395005.2_Missense_Mutation_p.P199T|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.P249T|MS4A14_ENST00000531787.1_Missense_Mutation_p.P104T	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	216						integral to membrane	receptor activity	p.P216T(1)		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						CTCTAGGAGTCCTTTAGTCTC	0.383000													14	147					3.27435e-08	3.85074e-08	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31283251	31283251	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:31283251G>C	ENST00000544665.3	+	7	713	c.642G>C	c.(640-642)ctG>ctC	p.L214L	ITGAM_ENST00000287497.8_Silent_p.L214L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	214	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.L214L(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAAGATCACTGGTGAAGCCAA	0.537000													60	183					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938904	132938904	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:132938904G>T	ENST00000275191.2	-	1	413	c.306C>A	c.(304-306)taC>taA	p.Y102*	TAAR2_ENST00000367931.1_Nonsense_Mutation_p.Y147*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.Y102*	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	147						plasma membrane	G-protein coupled receptor activity	p.Y147*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		AAAGTAATGGGTAACATATAG	0.368000													40	76					2.42038e-35	3.89744e-35	1	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:39274206C>T	ENST00000391413.2	-	1	400	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(5)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652000													5	127					0	0	1	0	0
EHD2	30846	broad.mit.edu	37	19	48244176	48244176	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:48244176G>T	ENST00000263277.3	+	6	1370	c.1119G>T	c.(1117-1119)tcG>tcT	p.S373S	EHD2_ENST00000540884.1_3'UTR|EHD2_ENST00000538399.1_Silent_p.S237S	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	373					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding	p.S373S(1)		endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		AGTTTCACTCGCTGAAGCCGA	0.637000													12	39					6.42651e-13	8.33853e-13	1	1	0
ADIPOR1	51094	broad.mit.edu	37	1	202912952	202912952	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:202912952T>G	ENST00000340990.5	-	6	1037	c.739A>C	c.(739-741)Att>Ctt	p.I247L	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.H157P|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.I247L	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	247					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity	p.I247L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			ATGGCAGAAATGCCCAGGACA	0.537000													26	81					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58236769	58236769	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:58236769C>T	ENST00000300900.4	+	8	1022	c.923C>T	c.(922-924)gCc>gTc	p.A308V		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	308					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGCCTGCTGGCCGGCTTCCTG	0.682000													9	41					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111480849	111480849	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:111480849G>T	ENST00000265162.5	+	19	3031	c.2689G>T	c.(2689-2691)Gag>Tag	p.E897*	ENPEP_ENST00000504100.1_3'UTR	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	897					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.E897*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CACAATAGCAGAGCCATTCAA	0.353000													16	77					5.03518e-11	6.34959e-11	1	1	0
CSAG4	100130935	broad.mit.edu	37	X	151896334	151896334	+	RNA	SNP	G	G	A	rs2515828	by1000genomes	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:151896334G>A	ENST00000361201.4	-	0	396					NR_073432.1													p.P26P(2)		endometrium(2)|kidney(2)|lung(1)	5						GTTCCCTTCCGGGTTGTCTTG	0.527000													5	117					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130940	45130940	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:45130940C>A	ENST00000457685.2	-	6	2247	c.924G>T	c.(922-924)gaG>gaT	p.E308D	ZNF334_ENST00000347606.4_Missense_Mutation_p.E346D|ZNF334_ENST00000593880.1_Missense_Mutation_p.E369D			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E346D(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CGTAAGGCTTCTCCCCTGTGT	0.428000													73	296					1.24833e-42	2.15372e-42	1	1	0
NEB	4703	broad.mit.edu	37	2	152527651	152527651	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:152527651G>A	ENST00000397345.3	-	38	4594	c.4392C>T	c.(4390-4392)ggC>ggT	p.G1464G	NEB_ENST00000603639.1_Silent_p.G1464G|NEB_ENST00000604864.1_Silent_p.G1464G|NEB_ENST00000409198.1_Silent_p.G1464G|NEB_ENST00000427231.2_Silent_p.G1464G|NEB_ENST00000172853.10_Silent_p.G1464G	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1464					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.G1464G(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAATGCATCGCCTGCTTTCT	0.463000													5	99					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88300589	88300589	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:88300589G>T	ENST00000418177.2	-	8	2629	c.2262C>A	c.(2260-2262)tgC>tgA	p.C754*	GRM5_ENST00000393297.1_Nonsense_Mutation_p.C754*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.C754*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.C754*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.C754*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	754					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.C754*(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CATAGAAGGTGCAGCTCAAAA	0.443000													76	145					1.94393e-27	2.96308e-27	1	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68699064	68699064	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:68699064C>G	ENST00000283916.6	-	7	648	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_Missense_Mutation_p.E67Q	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	184					proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.E184Q(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTCTCTGCTCAGACAATGTT	0.507000													18	355					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637257	248637257	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:248637257G>T	ENST00000359594.2	+	1	631	c.606G>T	c.(604-606)acG>acT	p.T202T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T202T(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTATAAGACGCTCATGTACC	0.512000													92	107					7.90906e-34	1.26706e-33	1	1	0
EEF2	1938	broad.mit.edu	37	19	3976627	3976627	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:3976627C>A	ENST00000309311.6	-	15	2590	c.2502G>T	c.(2500-2502)gtG>gtT	p.V834V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	834						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.V835L(1)		endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCCGCCACCACCTGGCTGG	0.657000													9	9					2.17888e-05	2.43476e-05	1	1	0
INTS1	26173	broad.mit.edu	37	7	1535817	1535817	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:1535817G>A	ENST00000389470.4	-	13	2069	c.2070C>T	c.(2068-2070)atC>atT	p.I690I	INTS1_ENST00000404767.3_Silent_p.I562I			Q8N201	INT1_HUMAN	integrator complex subunit 1	562					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.I690I(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGTCCCAGGCGATGCCGGCCT	0.657000													12	146					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949877	38949877	+	Silent	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:38949877C>G	ENST00000355481.4	+	19	2390	c.2259C>G	c.(2257-2259)tcC>tcG	p.S753S	RYR1_ENST00000359596.3_Silent_p.S753S|RYR1_ENST00000360985.3_Silent_p.S753S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	753	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.S753S(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCGTGCCGTCCATCTCCTTCC	0.622000													34	49					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75078524	75078524	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:75078524T>A	ENST00000261978.4	-	1	510	c.124A>T	c.(124-126)Aga>Tga	p.R42*	LTBP2_ENST00000556690.1_Nonsense_Mutation_p.R42*|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	42					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.R42*(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGCTCGTATCTCCCTACGGGG	0.701000													7	40					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144993918	144993918	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:144993918G>A	ENST00000322810.4	-	32	10651	c.10482C>T	c.(10480-10482)ctC>ctT	p.L3494L	PLEC_ENST00000345136.3_Silent_p.L3357L|PLEC_ENST00000527096.1_Silent_p.L3380L|PLEC_ENST00000436759.2_Silent_p.L3384L|PLEC_ENST00000354958.2_Silent_p.L3335L|PLEC_ENST00000398774.2_Silent_p.L3325L|PLEC_ENST00000357649.2_Silent_p.L3361L|PLEC_ENST00000356346.3_Silent_p.L3343L|PLEC_ENST00000354589.3_Silent_p.L3357L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3494	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.L3384L(1)|p.L3357L(1)|p.L3494L(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGATGCCGGCGAGGCAGCCAC	0.657000													32	74					0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5474954	5474954	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:5474954C>A	ENST00000341449.2	+	1	317	c.236C>A	c.(235-237)cCc>cAc	p.P79H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P79H(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCACACTGCCCACTGTACTC	0.502000													36	130					9.80977e-26	1.45296e-25	1	1	0
GFPT2	9945	broad.mit.edu	37	5	179734239	179734239	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:179734239C>A	ENST00000253778.8	-	16	1780	c.1611G>T	c.(1609-1611)acG>acT	p.T537T		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	537	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.T537T(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GCGATCTCTGCGTGTAGAGCT	0.632000													21	47					6.44725e-10	7.75646e-10	1	1	0
DGUOK	1716	broad.mit.edu	37	2	74166086	74166086	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:74166086A>G	ENST00000264093.4	+	2	277	c.192A>G	c.(190-192)gaA>gaG	p.E64E	DGUOK_ENST00000356837.6_Intron|DGUOK_ENST00000348222.1_Silent_p.E64E|DGUOK_ENST00000462685.1_Intron	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	64					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor	p.E64E(1)		endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						CTTACCCAGAATGGCACGTAG	0.473000													28	151					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237880547	237880547	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:237880547G>T	ENST00000366574.2	+	72	10690	c.10373G>T	c.(10372-10374)cGg>cTg	p.R3458L	RYR2_ENST00000542537.1_Missense_Mutation_p.R3442L|RYR2_ENST00000360064.6_Missense_Mutation_p.R3456L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3458					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R3456L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGGAGATCGGTATTCCATG	0.493000													19	62					1.01871e-10	1.25935e-10	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87730997	87730997	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:87730997G>A	ENST00000436978.1	+	46	7654	c.7174G>A	c.(7174-7176)Gat>Aat	p.D2392N	PTPN13_ENST00000511467.1_Missense_Mutation_p.D2392N|PTPN13_ENST00000316707.6_Missense_Mutation_p.D2196N|PTPN13_ENST00000411767.2_Missense_Mutation_p.D2387N|PTPN13_ENST00000427191.2_Missense_Mutation_p.D2368N	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	2387	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.D2392N(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCAACCAGATGATCTGCTTAC	0.458000													23	133					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162830770	162830770	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:162830770T>C	ENST00000375514.5	+	24	3401	c.3114T>C	c.(3112-3114)agT>agC	p.S1038S	SLC4A10_ENST00000272716.5_Silent_p.S1027S|SLC4A10_ENST00000446997.1_Silent_p.S1057S|SLC4A10_ENST00000421911.1_Intron|SLC4A10_ENST00000415876.2_Silent_p.S1027S	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	1057					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.S1057S(1)|p.C1027C(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAGAACAAAGTATGCTAGCTA	0.323000													7	23					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91816323	91816323	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:91816323G>T	ENST00000370425.3	-	18	2276	c.2178C>A	c.(2176-2178)atC>atA	p.I726I	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Silent_p.I405I|HFM1_ENST00000462405.1_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	726							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.I726I(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCAAGGCTCTGATATAAAGCA	0.343000													25	138					5.61819e-17	7.67005e-17	1	1	0
NCOA6	23054	broad.mit.edu	37	20	33338167	33338167	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:33338167C>A	ENST00000374796.2	-	10	4401	c.1831G>T	c.(1831-1833)Ggc>Tgc	p.G611C	NCOA6_ENST00000359003.2_Missense_Mutation_p.G611C			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	611	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.G611C(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGGGGCTGGCCTTGCATGTTG	0.557000													23	97					1.50039e-11	1.91513e-11	1	1	0
FBXO38	81545	broad.mit.edu	37	5	147813274	147813274	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:147813274A>T	ENST00000340253.5	+	17	2999	c.2831A>T	c.(2830-2832)gAc>gTc	p.D944V	FBXO38_ENST00000394370.3_Missense_Mutation_p.D869V|FBXO38_ENST00000513826.1_Missense_Mutation_p.D699V|FBXO38_ENST00000296701.6_Missense_Mutation_p.D699V			Q6PIJ6	FBX38_HUMAN	F-box protein 38	944						cytoplasm|nucleus		p.D944V(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTAAAAGACTGTCCAAAG	0.333000													49	201					0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55532290	55532290	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:55532290C>T	ENST00000219070.4	+	11	2208	c.1699C>T	c.(1699-1701)Cga>Tga	p.R567*	MMP2_ENST00000570308.1_Nonsense_Mutation_p.R491*|MMP2_ENST00000543485.1_Nonsense_Mutation_p.R491*|MMP2_ENST00000437642.2_Nonsense_Mutation_p.R517*	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	567	Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	p.R567*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TGATGTCCAGCGAGTGGATGC	0.562000													22	142					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068622	5068622	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:5068622C>T	ENST00000380370.1	+	1	867	c.867C>T	c.(865-867)aaC>aaT	p.N289N		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N289N(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCTCTCAACCCCATCATTT	0.388000													42	121					0	0	1	0	0
PTH	5741	broad.mit.edu	37	11	13514010	13514010	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:13514010C>T	ENST00000282091.1	-	3	404	c.290G>A	c.(289-291)aGt>aAt	p.S97N	PTH_ENST00000529816.1_Missense_Mutation_p.S97N	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	97					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding	p.S97N(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CTCTCCAAGACTTTTTTCATG	0.433000													26	108					0	0	1	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244973	1244973	+	RNA	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:1244973G>T	ENST00000581398.1	+	0	927				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						TGTTCCAAGCGCTGCCTTCTC	0.567000													10	27					0.000442599	0.000472708	1	1	0
LSM2	57819	broad.mit.edu	37	6	31765615	31765615	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:31765615G>A	ENST00000375661.5	-	5	433	c.207C>T	c.(205-207)taC>taT	p.Y69Y	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	69					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding	p.Y69Y(1)		large_intestine(1)|lung(1)	2						GCAGCTGCACGTATCGGACCA	0.502000													35	473					0	0	1	0	0
CNOT6	57472	broad.mit.edu	37	5	179976929	179976929	+	Splice_Site	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:179976929A>G	ENST00000393356.1	+	5	536		c.e5-1		CNOT6_ENST00000261951.4_Splice_Site|CNOT6_ENST00000502447.1_Splice_Site			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTTCTCTTACAGGAAAAGTAA	0.343000													129	216					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70517776	70517776	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:70517776T>C	ENST00000323786.5	-	14	1828	c.1807A>G	c.(1807-1809)Aaa>Gaa	p.K603E		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	599					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	p.K603E(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TCTCGGAATTTGTTGGACACG	0.552000													42	156					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11732279	11732279	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:11732279G>T	ENST00000304623.8	-	2	332	c.143C>A	c.(142-144)aCc>aAc	p.T48N	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.T48N	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	48					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.T48N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATGGCAGAGGTGGTTTCTGT	0.473000													44	368					6.21074e-16	8.29861e-16	1	1	0
HTATSF1	27336	broad.mit.edu	37	X	135593999	135593999	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:135593999G>T	ENST00000535601.1	+	10	2517	c.2095G>T	c.(2095-2097)Gat>Tat	p.D699Y	HTATSF1_ENST00000218364.4_Missense_Mutation_p.D699Y	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	699	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	p.D699Y(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTGTTCGAAGATGATGATTC	0.428000													57	48					8.44121e-28	1.29295e-27	1	1	0
ACAN	176	broad.mit.edu	37	15	89402517	89402517	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:89402517T>C	ENST00000439576.2	+	12	7075	c.6701T>C	c.(6700-6702)cTa>cCa	p.L2234P	ACAN_ENST00000559004.1_Missense_Mutation_p.L2234P|ACAN_ENST00000352105.7_Missense_Mutation_p.L2234P|ACAN_ENST00000561243.1_Missense_Mutation_p.L2234P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2234					cell adhesion		hyaluronic acid binding|sugar binding	p.L2120P(2)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGACGCATCTAGAAATTGAG	0.572000													9	42					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189942	58189942	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:58189942A>C	ENST00000302581.2	-	1	844	c.793T>G	c.(793-795)Tcc>Gcc	p.S265A		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265A(1)|p.S265T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTGTCCATGGAGTGGCTGGAG	0.498000													22	100					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48614316	48614316	+	Splice_Site	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:48614316C>T	ENST00000328333.8	-	66	5712		c.e66+1		COL7A1_ENST00000454817.1_Splice_Site	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1						cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.?(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCAATACTCACTTCTCTCCCA	0.557000													25	100					0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035098	30035098	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:30035098C>T	ENST00000300575.2	+	2	202	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	61						integral to membrane		p.R61C(1)		breast(3)|lung(3)	6						AGAGTCTCCGCGCTTCTTAGA	0.567000													5	85					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26596496	26596496	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:26596496T>A	ENST00000381340.3	-	46	6846	c.6430A>T	c.(6430-6432)Aac>Tac	p.N2144Y		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2144					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	p.N2144Y(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAGTGTGGTTGGCATAATAC	0.393000													32	62					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90504317	90504317	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:90504317C>A	ENST00000369393.3	-	3	648	c.533G>T	c.(532-534)aGc>aTc	p.S178I	MDN1_ENST00000428876.1_Missense_Mutation_p.S178I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	178					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.S178I(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGTCATGGCTTCTGAGGAG	0.547000													49	72					1.11015e-26	1.66788e-26	1	1	0
STXBP5L	9515	broad.mit.edu	37	3	120876387	120876387	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:120876387C>G	ENST00000273666.6	+	9	1061	c.790C>G	c.(790-792)Cag>Gag	p.Q264E	STXBP5L_ENST00000497029.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.Q264E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.Q264E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	264					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.Q264E(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGAGGGCAAACAGTTCATGTG	0.378000													45	93					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26509306	26509306	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:26509306C>A	ENST00000244513.6	+	7	1551	c.1485C>A	c.(1483-1485)atC>atA	p.I495I		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	495						extracellular region|integral to plasma membrane	receptor activity	p.I495I(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						CTAAGGAGATCCCATTGTCCC	0.542000													61	287					1.1362e-29	1.77495e-29	1	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42399487	42399487	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:42399487G>A	ENST00000599846.1	+	12	1068	c.943G>A	c.(943-945)Ggg>Agg	p.G315R	ARHGEF1_ENST00000354532.3_Missense_Mutation_p.G315R|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.G282R|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.G330R|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.G297R			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	315					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	p.G330R(1)		breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGGAATATCGGGGCTCCTGG	0.637000													14	151					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222605	44222605	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:44222605G>A	ENST00000393812.3	-	4	1280	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Silent_p.I246I|SLC35B2_ENST00000538577.1_Silent_p.I286I|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	379					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity	p.I379I(1)		breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGAAAGAAGGATGGCAAAGG	0.592000													6	105					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50535205	50535205	+	Splice_Site	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:50535205T>A	ENST00000267845.3	-	12	1645		c.e12-2		HDC_ENST00000543581.1_Splice_Site	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase						catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATTAGGACCCTGTTTGAAAAA	0.488000													32	56					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124819067	124819067	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:124819067C>A	ENST00000356219.3	-	42	6684	c.6529G>T	c.(6529-6531)Gtc>Ttc	p.V2177F	NCOR2_ENST00000404121.2_Missense_Mutation_p.V1731F|NCOR2_ENST00000429285.2_Missense_Mutation_p.V2160F|NCOR2_ENST00000397355.1_Missense_Mutation_p.V2161F|NCOR2_ENST00000405201.1_Missense_Mutation_p.V2170F|NCOR2_ENST00000404621.1_Missense_Mutation_p.V2160F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2181					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGGTCCAGGACGGGGCAGCTG	0.721000													4	12					0.000602214	0.000630318	1	1	0
EPHB6	2051	broad.mit.edu	37	7	142562293	142562293	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:142562293G>T	ENST00000392957.2	+	7	1522	c.735G>T	c.(733-735)acG>acT	p.T245T	EPHB6_ENST00000442129.1_Silent_p.T245T|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	245	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.T230T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TTCCAGAGACGCAGGCCAGTG	0.672000													107	170					3.36245e-48	5.89838e-48	1	1	0
FGD3	89846	broad.mit.edu	37	9	95773546	95773546	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:95773546C>T	ENST00000375482.3	+	8	1523	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	FGD3_ENST00000416701.2_Missense_Mutation_p.R343W|FGD3_ENST00000337352.6_Missense_Mutation_p.R343W	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	343					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.R343W(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGCTGCCATTCGGAAAGTGGT	0.627000													32	107					0	0	1	0	0
FBXO47	494188	broad.mit.edu	37	17	37099079	37099079	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:37099079C>A	ENST00000378079.2	-	9	1234	c.1035G>T	c.(1033-1035)gtG>gtT	p.V345V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	345								p.V345V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGCGTCCATTCACAGCTTTAC	0.398000													72	104					6.86016e-32	1.08246e-31	1	1	0
RP11-383H13.1	0	broad.mit.edu	37	8	72755870	72755870	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:72755870G>T	ENST00000537896.1	+	1	504	c.234G>T	c.(232-234)ccG>ccT	p.P78P	RP11-383H13.1_ENST00000524152.1_5'UTR|MSC_ENST00000325509.4_Intron|RP11-383H13.1_ENST00000521467.1_Intron														p.?(1)		lung(1)	1						CTTGCGCGCCGCGCCCCTACC	0.652000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	92					1.13719e-10	1.40031e-10	1	1	0
SLC5A1	6523	broad.mit.edu	37	22	32439311	32439311	+	Silent	SNP	C	C	A	rs33915717		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:32439311C>A	ENST00000266088.4	+	1	293	c.43C>A	c.(43-45)Cgg>Agg	p.R15R		NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	15					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.R15R(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						CGCGGTCACCCGGCCTGTTGA	0.602000													13	40					6.72482e-11	8.41273e-11	1	1	0
GFRA1	2674	broad.mit.edu	37	10	117885022	117885022	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:117885022G>T	ENST00000439649.3	-	5	832	c.465C>A	c.(463-465)gcC>gcA	p.A155A	GFRA1_ENST00000369236.1_Silent_p.A155A|GFRA1_ENST00000355422.6_Silent_p.A160A|GFRA1_ENST00000544592.1_Silent_p.A39A	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	160					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	p.A155A(1)		endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CGAGGTTGCAGGCCTTCGCTG	0.562000													8	43					0.000157383	0.000171592	1	1	0
CD4	920	broad.mit.edu	37	12	6909341	6909341	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:6909341G>T	ENST00000011653.4	+	2	295	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	CD4_ENST00000538827.1_Intron|CD4_ENST00000541982.1_Missense_Mutation_p.V13L	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	13					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	p.V13L(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTTGCTTCTGGTGCTGCAACT	0.597000													18	121					5.03518e-11	6.34959e-11	1	1	0
FAT3	120114	broad.mit.edu	37	11	92613965	92613965	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:92613965C>T	ENST00000298047.6	+	22	12213	c.12196C>T	c.(12196-12198)Cca>Tca	p.P4066S	FAT3_ENST00000533797.1_Missense_Mutation_p.P401S|FAT3_ENST00000525166.1_Missense_Mutation_p.P3916S|FAT3_ENST00000409404.2_Missense_Mutation_p.P4066S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4066	EGF-like 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P4066S(2)|p.P641S(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCCTGCTTCCCAAACCCCTG	0.493000										TCGA Ovarian(4;0.039)			138	246					0	0	1	0	0
ELAVL3	1995	broad.mit.edu	37	19	11569323	11569323	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:11569323G>T	ENST00000359227.3	-	4	861	c.437C>A	c.(436-438)tCc>tAc	p.S146Y	ELAVL3_ENST00000438662.2_Missense_Mutation_p.S146Y	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	146	RRM 2.				cell differentiation|nervous system development		AU-rich element binding|nucleotide binding	p.S146Y(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						GCCGTACTGGGAGAAGAGCTG	0.622000													84	116					2.00703e-41	3.37009e-41	1	1	0
CUBN	8029	broad.mit.edu	37	10	17130324	17130324	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:17130324C>A	ENST00000377833.4	-	15	1851	c.1786G>T	c.(1786-1788)Ggt>Tgt	p.G596C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	596	CUB 2.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G596C(2)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCGTAAGGACCAGTCAGGATA	0.423000													14	66					3.52763e-06	4.02791e-06	1	1	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276953	71276953	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:71276953G>T	ENST00000398531.1	+	1	345	c.320G>T	c.(319-321)tGt>tTt	p.C107F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	107	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.C107F(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGTTCTTGTGGGGGCTCC	0.677000													66	132					1.55521e-42	2.6685e-42	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21478677	21478677	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:21478677G>T	ENST00000281523.2	-	5	976	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	153	Thr-rich.					nucleus	nucleic acid binding|zinc ion binding	p.P153Q(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TGATATTGCTGGTGTCCCTGC	0.418000													19	95					2.4624e-09	2.9399e-09	1	1	0
SLC34A2	10568	broad.mit.edu	37	4	25674768	25674768	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:25674768A>T	ENST00000382051.3	+	10	1158	c.1108A>T	c.(1108-1110)Ata>Tta	p.I370L	SLC34A2_ENST00000503434.1_Missense_Mutation_p.I369L|SLC34A2_ENST00000504570.1_Missense_Mutation_p.I369L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	370					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.I370L(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CATCTTGCTCATACTCTCCCT	0.527000			T	ROS1	NSCLC								35	146					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106208271	106208271	+	RNA	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:106208271G>A	ENST00000390548.2	-	0	628																											GGCTGGGAGGGCTTTGTTGGA	0.617000													118	521					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106810978	106810978	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:106810978G>T	ENST00000407775.2	+	7	1016	c.766G>T	c.(766-768)Ggc>Tgc	p.G256C	ZFPM2_ENST00000378472.4_5'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G124C|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G124C|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	256					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.G256C(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAAGTCCTGTGGCATCTGGTA	0.473000													37	80					8.73648e-17	1.18244e-16	1	1	0
SLIT3	6586	broad.mit.edu	37	5	168135055	168135055	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:168135055G>T	ENST00000519560.1	-	26	3189	c.2770C>A	c.(2770-2772)Ccg>Acg	p.P924T	CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000404867.3_Missense_Mutation_p.P924T|CTC-558O2.1_ENST00000522615.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.P931T	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	924	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.P924T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTCTTGCACGGGCTGGAGAGG	0.602000													10	180					5.16669e-11	6.48936e-11	1	1	0
HRH2	3274	broad.mit.edu	37	5	175111019	175111019	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:175111019G>A	ENST00000231683.2	+	1	2556	c.783G>A	c.(781-783)ggG>ggA	p.G261G	HRH2_ENST00000377291.2_Silent_p.G261G	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	261					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGCTGAGAGGGGATGATGCCA	0.567000													10	250					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19566042	19566042	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:19566042A>G	ENST00000409832.3	+	6	1138	c.1086A>G	c.(1084-1086)gaA>gaG	p.E362E	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	362								p.E362E(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTACAAAGAAAAACAGATGC	0.303000													16	299					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124540	142124540	+	RNA	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:142124540G>A	ENST00000390376.2	-	0	25																											AGAAAAGGCCGCACAGCACAG	0.602000													39	151					0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784902	9784902	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:9784902G>A	ENST00000304374.2	+	1	1645	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	417					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A417T(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GATGCCCAACGCCGTTACCCC	0.557000													27	128					0	0	1	0	0
RABL3	285282	broad.mit.edu	37	3	120417347	120417347	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:120417347G>C	ENST00000273375.3	-	5	486	c.457C>G	c.(457-459)Cat>Gat	p.H153D	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.H153D	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	153	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding	p.H153D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		TTTGTTTCATGAATCTGGTCC	0.363000													91	399					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37565089	37565089	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:37565089T>C	ENST00000300651.6	-	17	3608	c.3385A>G	c.(3385-3387)Agc>Ggc	p.S1129G	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1129	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.S1129G(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TACATACTGCTACTTAACTTG	0.483000										HNSCC(31;0.082)			12	68					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147130409	147130409	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:147130409C>A	ENST00000282928.4	+	2	1816	c.1087C>A	c.(1087-1089)Ctt>Att	p.L363I		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	363					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L363I(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CAAGCCCTATCTTTGCAAGAT	0.577000													36	170					1.90571e-15	2.53556e-15	1	1	0
FAM13C	220965	broad.mit.edu	37	10	61022292	61022292	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:61022292C>A	ENST00000373867.3	-	11	1354	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C	FAM13C_ENST00000435852.2_Missense_Mutation_p.G380C|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000442566.3_Missense_Mutation_p.G401C|FAM13C_ENST00000422313.2_Missense_Mutation_p.G380C|FAM13C_ENST00000277705.6_Missense_Mutation_p.G401C|FAM13C_ENST00000373868.2_Missense_Mutation_p.G380C|FAM13C_ENST00000468840.2_Missense_Mutation_p.G297C	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	380								p.G380C(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCTCCGGGCCCGCAGCTTCC	0.552000													46	83					4.62893e-10	5.59033e-10	1	1	0
NLRP5	126206	broad.mit.edu	37	19	56539800	56539800	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:56539800G>C	ENST00000390649.3	+	7	2201	c.2201G>C	c.(2200-2202)cGg>cCg	p.R734P		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	734						mitochondrion|nucleolus	ATP binding	p.R734P(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCGTATTTGCGGAAAATTCGG	0.507000													124	189					0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378621	142378621	+	RNA	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:142378621C>A	ENST00000390398.3	+	0	50																											GACTATCAGGCTCCTCTGCTA	0.468000													13	21					1.5739e-10	1.92297e-10	1	1	0
TRAPPC4	51399	broad.mit.edu	37	11	118889681	118889681	+	Splice_Site	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:118889681G>A	ENST00000533632.1	+	1	539		c.e1+1		TRAPPC4_ENST00000528230.1_Splice_Site|TRAPPC4_ENST00000434101.2_Splice_Site|TRAPPC4_ENST00000359005.4_Splice_Site|TRAPPC4_ENST00000533058.1_Splice_Site|TRAPPC4_ENST00000525303.1_Splice_Site|MIR3656_ENST00000577421.1_RNA	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGCATCCGAGGTGGGCTAGGC	0.627000													5	101					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50192227	50192227	+	Silent	SNP	C	C	G	rs149829026		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:50192227C>G	ENST00000216267.8	-	4	2250	c.1764G>C	c.(1762-1764)gcG>gcC	p.A588A	BRD1_ENST00000404034.1_Silent_p.A588A|BRD1_ENST00000342989.5_Silent_p.A183A|BRD1_ENST00000542442.1_Silent_p.A281A|BRD1_ENST00000457780.2_Silent_p.A588A|BRD1_ENST00000404760.1_Silent_p.A588A	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	588	Bromo.				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	p.A588A(1)|p.A183A(1)		endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCACGGGCTGCGCAAATATCC	0.627000													8	76					0	0	1	0	0
PIP4K2C	79837	broad.mit.edu	37	12	57995329	57995329	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:57995329T>C	ENST00000354947.5	+	10	1222	c.1206T>C	c.(1204-1206)acT>acC	p.T402T	PIP4K2C_ENST00000550465.1_Silent_p.T384T|PIP4K2C_ENST00000422156.3_Silent_p.T354T|PIP4K2C_ENST00000540759.2_Silent_p.T402T			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	402	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.T402T(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGATCTCTACTGTCCATCCGG	0.532000													41	175					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69433722	69433722	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:69433722G>T	ENST00000317746.2	-	1	523	c.481C>A	c.(481-483)Ctg>Atg	p.L161M		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	161					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.L161M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						AGCTCAGCCAGCAGCTCACCA	0.443000													78	459					1.78623e-52	3.1868e-52	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79461573	79461573	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:79461573T>C	ENST00000376718.3	-	4	489	c.366A>G	c.(364-366)tcA>tcG	p.S122S	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Silent_p.S122S	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	122					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S122S(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGACAACTGCTGATTCTAAAG	0.428000													12	93					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121355331	121355331	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:121355331C>T	ENST00000314583.3	-	8	662	c.571G>A	c.(571-573)Gcc>Acc	p.A191T	HCLS1_ENST00000428394.2_Missense_Mutation_p.A154T|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	191					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity	p.A191T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AAGCCCTTGGCATAATCTGCA	0.448000													50	108					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357673	118357673	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:118357673G>T	ENST00000528052.1	+	8	880	c.809G>T	c.(808-810)tGg>tTg	p.W270L	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.W270L|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.W270L			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	270					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.W270L(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGGCATCTGGGCGGGTAAA	0.502000													7	29					2.0095e-06	2.30285e-06	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133540623	133540623	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:133540623G>T	ENST00000409261.1	-	14	4134	c.3761C>A	c.(3760-3762)tCc>tAc	p.S1254Y	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S1254Y	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1254							protein binding	p.S1254Y(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAGGAAAGGGATCTTCTCAT	0.517000													51	195					3.07002e-29	4.7487e-29	1	1	0
TP53	7157	broad.mit.edu	37	17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:7577108C>A	ENST00000420246.2	-	8	962	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and 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.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTCCCAGGACAGGCACAAAC	0.547000		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)			30	31					3.1745e-13	4.1533e-13	1	1	0
RCOR3	55758	broad.mit.edu	37	1	211449715	211449715	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:211449715A>T	ENST00000367005.4	+	4	438	c.297A>T	c.(295-297)caA>caT	p.Q99H	RCOR3_ENST00000452621.2_Missense_Mutation_p.Q157H|RCOR3_ENST00000367006.4_Missense_Mutation_p.Q157H|RCOR3_ENST00000419091.2_Missense_Mutation_p.Q157H	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	99	SANT 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q99H(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TATTTGAACAAGCCTTTAGTT	0.378000													75	292					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55360397	55360397	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:55360397C>A	ENST00000290552.7	+	2	1527	c.195C>A	c.(193-195)ggC>ggA	p.G65G	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	65						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G65G(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGGAGCTGGGCGCCGCCTTGG	0.662000													3	44					0.004672	0.00484161	1	1	0
LINC01098	285501	broad.mit.edu	37	4	178897064	178897064	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:178897064T>A	ENST00000507870.1	+	5	729	c.267T>A	c.(265-267)tcT>tcA	p.S89S															p.S89S(2)		lung(8)|prostate(1)	9						AGAATGTGTCTGATTCTCTGA	0.388000													41	236					0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17624952	17624952	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:17624952G>A	ENST00000262077.2	-	20	4013	c.4014C>T	c.(4012-4014)ccC>ccT	p.P1338P	NUP153_ENST00000537253.1_Silent_p.P1369P	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1338					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding	p.P1338P(1)		NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CAAAGCCTGGGGGATTGGGCT	0.522000													37	97					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	746119	746119	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:746119C>T	ENST00000381944.3	-	2	541	c.300G>A	c.(298-300)ctG>ctA	p.L100L	SLC52A3_ENST00000473664.1_5'UTR|SLC52A3_ENST00000217254.7_Silent_p.L100L			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	100					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity	p.L100L(1)									GGTGGCCGTCCAGCACCCAGG	0.597000													3	15					0	0	1	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391656	3391656	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:3391656G>T	ENST00000324266.5	+	2	457	c.262G>T	c.(262-264)Gtg>Ttg	p.V88L	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.V88L	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	88							binding										CCTGGGCCGAGTGCGGGACGA	0.711000													10	13					1.33987e-11	1.71722e-11	1	1	0
PCDHGA7	56108	broad.mit.edu	37	5	140764252	140764252	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:140764252A>G	ENST00000518325.1	+	1	1786	c.1786A>G	c.(1786-1788)Aaa>Gaa	p.K596E	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGTGGACAAAGATTCAGG	0.647000													5	218					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148048526	148048526	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:148048526G>A	ENST00000370460.2	+	14	3599	c.3120G>A	c.(3118-3120)ctG>ctA	p.L1040L	AFF2_ENST00000342251.3_Silent_p.L1007L|AFF2_ENST00000370457.5_Silent_p.L1005L|AFF2_ENST00000286437.5_Silent_p.L681L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1040					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.L1040L(2)|p.L681L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGTCACCTGGAGATGACGT	0.542000													29	299					0	0	1	0	0
IFNA8	3445	broad.mit.edu	37	9	21409376	21409376	+	Silent	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:21409376T>C	ENST00000380205.1	+	1	231	c.201T>C	c.(199-201)gaT>gaC	p.D67D		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	67					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.D67D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AGGAGTTTGATGATAAACAGT	0.493000													64	141					0	0	1	0	0
FAM91A1	157769	broad.mit.edu	37	8	124810464	124810464	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:124810464A>T	ENST00000334705.7	+	16	1792	c.1546A>T	c.(1546-1548)Agc>Tgc	p.S516C	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S516C	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	516								p.S516C(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			GCCTGTCAGCAGCTGCACCCC	0.463000													37	125					0	0	1	0	0
TAS1R2	80834	broad.mit.edu	37	1	19181197	19181197	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:19181197C>A	ENST00000375371.3	-	3	788	c.767G>T	c.(766-768)cGc>cTc	p.R256L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	256					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGTCACCAGGCGCTGGCGCTC	0.637000													9	55					2.17888e-05	2.43476e-05	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79461594	79461594	+	Splice_Site	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:79461594A>G	ENST00000376718.3	-	4	468	c.344_splice	c.e4-1	p.S115_splice	PRUNE2_ENST00000428286.1_5'UTR|PRUNE2_ENST00000376713.3_Splice_Site_p.S115_splice	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	115					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S115S(2)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTTTGTCTTCACTGTAAAGCA	0.433000													10	81					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70964340	70964340	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:70964340G>T	ENST00000276594.2	-	8	1889	c.1688C>A	c.(1687-1689)tCc>tAc	p.S563Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S563Y(1)		NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTTCATGTGGGAGTAGAATGT	0.517000													18	127					4.63292e-17	6.35257e-17	1	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103460022	103460022	+	Nonsense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:103460022C>T	ENST00000602836.1	+	1	319	c.319C>T	c.(319-321)Caa>Taa	p.Q107*	BIVM_ENST00000257336.1_Silent_p.G135G|BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Silent_p.G135G	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	p.G135G(1)									ACAGCCTGGGCAAGCTACCTC	0.393000													8	86					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27710904	27710904	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:27710904A>T	ENST00000261588.4	+	10	1182	c.1163A>T	c.(1162-1164)aAg>aTg	p.K388M	CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	388								p.K388M(2)		breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTGGAGGAGAAGGAAGAGACC	0.522000													25	88					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147302	154147302	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:154147302A>T	ENST00000389740.2	-	1	202	c.103T>A	c.(103-105)Tat>Aat	p.Y35N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	35						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y35N(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAAAAAAGATAGATATTCAGG	0.393000													21	143					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	240979707	240979707	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:240979707A>G	ENST00000366565.1	-	11	1074	c.693T>C	c.(691-693)taT>taC	p.Y231Y	RGS7_ENST00000401882.1_Silent_p.Y178Y|RGS7_ENST00000348120.2_Silent_p.Y178Y|RGS7_ENST00000331110.7_Silent_p.Y205Y|RGS7_ENST00000446183.2_Silent_p.Y147Y|RGS7_ENST00000407727.1_Silent_p.Y231Y|RGS7_ENST00000366564.1_Silent_p.Y231Y|RGS7_ENST00000366562.4_Silent_p.Y231Y|RGS7_ENST00000366563.1_Silent_p.Y231Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	231					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.Y231Y(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTGTAAACCATAGACAGACt	0.338000													81	184					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135482182	135482182	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:135482182G>T	ENST00000394143.1	+	21	8773	c.8482G>T	c.(8482-8484)Ggc>Tgc	p.G2828C	GPR112_ENST00000412101.1_Missense_Mutation_p.G2623C|GPR112_ENST00000394141.1_Missense_Mutation_p.G2623C|GPR112_ENST00000370652.1_Missense_Mutation_p.G2828C|GPR112_ENST00000287534.4_Missense_Mutation_p.G2581C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2828					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G2828C(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACTTGGATGGGCCTGGAGGC	0.388000													75	71					2.08929e-35	3.38163e-35	1	1	0
IGKV3-11	28914	broad.mit.edu	37	2	89326897	89326897	+	RNA	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:89326897G>T	ENST00000483158.1	-	0	162																											GGAGAGGGTGGCTCTTTCCCC	0.512000													28	282					4.09106e-26	6.08812e-26	1	1	0
UGT3A1	133688	broad.mit.edu	37	5	35954564	35954564	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:35954564C>A	ENST00000274278.3	-	7	1669	c.1312G>T	c.(1312-1314)Gtg>Ttg	p.V438L		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	438						integral to membrane	glucuronosyltransferase activity	p.V438L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTGGCTGCCACCACTGCCGAC	0.587000													43	65					2.00842e-17	2.79046e-17	1	1	0
IGF2BP1	10642	broad.mit.edu	37	17	47075134	47075134	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:47075134C>T	ENST00000290341.3	+	1	361	c.27C>T	c.(25-27)ctC>ctT	p.L9L	IGF2BP1_ENST00000431824.2_Silent_p.L9L|IGF2BP1_ENST00000515586.1_3'UTR	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	9	RRM 1.				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.L9L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCGGCAACCTCAACGAGAGCG	0.642000													38	177					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400364	78400364	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:78400364C>A	ENST00000397909.2	+	8	1219	c.1046C>A	c.(1045-1047)aCt>aAt	p.T349N	NAV3_ENST00000266692.7_Missense_Mutation_p.T349N|NAV3_ENST00000536525.2_Missense_Mutation_p.T349N|NAV3_ENST00000228327.6_Missense_Mutation_p.T349N			Q8IVL0	NAV3_HUMAN	neuron navigator 3	349						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T349N(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACCATGTTGACTGTAAAGCAG	0.557000										HNSCC(70;0.22)			55	88					1.27334e-21	1.79295e-21	1	1	0
PRKAG2	51422	broad.mit.edu	37	7	151478496	151478496	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:151478496C>A	ENST00000287878.4	-	3	712	c.208G>T	c.(208-210)Ggc>Tgc	p.G70C	PRKAG2_ENST00000392801.2_Missense_Mutation_p.G26C|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	70					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	p.G70C(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		GAGGGGCTGCCCGGGCCGAAG	0.627000													12	24					1.49906e-05	1.69929e-05	1	1	0
HAND2	9464	broad.mit.edu	37	4	174450016	174450016	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:174450016C>T	ENST00000359562.4	-	1	1364	c.425G>A	c.(424-426)cGc>cAc	p.R142H	HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2_ENST00000505300.1_5'UTR	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	142	Helix-loop-helix motif.				adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development	nuclear chromatin|transcription factor complex	activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity	p.R142H(1)		endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GGTGGCCAGGCGCAGGGTCTT	0.612000													19	205					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			18	39					0.00887093	0.00916274	1	1	0
DPP6	1804	broad.mit.edu	37	7	154263946	154263946	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:154263946G>T	ENST00000404039.1	+	5	967	c.380G>T	c.(379-381)aGa>aTa	p.R127I	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000377770.3_Missense_Mutation_p.R191I|DPP6_ENST00000332007.3_Missense_Mutation_p.R129I|DPP6_ENST00000427557.1_Missense_Mutation_p.R129I|DPP6_ENST00000406326.1_Missense_Mutation_p.R191I	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	191					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity	p.R191I(2)|p.R129I(1)|p.R127I(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGAGCCATCAGATATGAAATA	0.294000													4	58					0.000602214	0.000630318	1	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	60					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559207	140559207	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:140559207G>A	ENST00000239444.2	+	1	1837	c.1592G>A	c.(1591-1593)cGg>cAg	p.R531Q		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R531Q(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCGAGTTCCGGGTGGGCGCT	0.672000													90	648					0	0	1	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140889	143140889	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:143140889G>T	ENST00000332690.1	+	1	344	c.344G>T	c.(343-345)aGt>aTt	p.S115I	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	115					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.S115I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACCTGGCTCAGTGTCTTCTAT	0.498000													55	299					3.37043e-27	5.11263e-27	1	1	0
RET	5979	broad.mit.edu	37	10	43602005	43602005	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:43602005C>A	ENST00000355710.3	+	5	1281	c.1049C>A	c.(1048-1050)aCc>aAc	p.T350N	RET_ENST00000340058.5_Missense_Mutation_p.T350N	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	350					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.T350N(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GTGCGGGCGACCGTACATGAC	0.642000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	49					2.0095e-06	2.30285e-06	1	1	0
HIST1H1E	3008	broad.mit.edu	37	6	26156797	26156797	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:26156797C>A	ENST00000304218.3	+	1	239	c.179C>A	c.(178-180)gCc>gAc	p.A60D		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	60	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.A60D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GTATCTTTGGCCGCTCTCAAG	0.617000													19	98					9.7654e-05	0.000107215	1	1	0
MKI67	4288	broad.mit.edu	37	10	129901424	129901424	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:129901424C>A	ENST00000368654.3	-	13	9055	c.8680G>T	c.(8680-8682)Gac>Tac	p.D2894Y	MKI67_ENST00000368653.3_Missense_Mutation_p.D2534Y	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2894	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.D2894Y(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCTTCTGCGTCCAGCTTCCGC	0.547000													40	214					3.68427e-32	5.84273e-32	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16953697	16953697	+	RNA	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:16953697C>A	ENST00000412962.1	-	0	564																											CCCGTTGCAGCGTGGCGCGGC	0.632000													12	123					4.3838e-07	5.0982e-07	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55626616	55626616	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:55626616G>T	ENST00000373965.2	-	28	3918	c.3522_splice	c.e28-1	p.A1175_splice	PCDH15_ENST00000395430.1_Splice_Site_p.A1168_splice|PCDH15_ENST00000361849.3_Splice_Site_p.A1168_splice|PCDH15_ENST00000437009.1_Splice_Site_p.A1097_splice|PCDH15_ENST00000395432.2_Splice_Site_p.A1131_splice|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Splice_Site_p.A779_splice|PCDH15_ENST00000395438.1_Splice_Site_p.A1168_splice|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Splice_Site_p.A1175_splice|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Splice_Site_p.A1173_splice|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Splice_Site_p.A1146_splice|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_Splice_Site_p.A1168_splice	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1168	Cadherin 11.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1168D(2)|p.A1173D(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTATCAGTAGCCTAGACGGA	0.343000										HNSCC(58;0.16)			65	113					1.34159e-35	2.1827e-35	1	1	0
PLLP	51090	broad.mit.edu	37	16	57318396	57318396	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:57318396G>C	ENST00000219207.5	-	1	203	c.57C>G	c.(55-57)gcC>gcG	p.A19A	PLLP_ENST00000569059.1_Silent_p.A19A	NM_015993.2	NP_057077.1	Q9Y342	PLLP_HUMAN	plasmolipin	19						integral to membrane	ion channel activity			endometrium(1)|prostate(1)	2						CCGAGGCTTCGGCGCCCTGCG	0.736000													3	18					0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48689456	48689456	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:48689456G>A	ENST00000544264.1	-	12	6057	c.5777C>T	c.(5776-5778)tCt>tTt	p.S1926F	CELSR3_ENST00000164024.4_Missense_Mutation_p.S1926F			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1926	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.S1926F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGGGGAGCCAGAGGGTGTGGA	0.657000													8	34					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17603314	17603314	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:17603314T>C	ENST00000375460.3	+	13	1538	c.1498T>C	c.(1498-1500)Ttc>Ctc	p.F500L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	500					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.F500L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTTCAAGCTCTTCCAGGAAAA	0.642000													14	28					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47904793	47904793	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:47904793G>T	ENST00000503935.2	+	15	2333	c.1297G>T	c.(1297-1299)Gcc>Tcc	p.A433S	KAT7_ENST00000454930.2_Missense_Mutation_p.A450S|KAT7_ENST00000435742.2_Missense_Mutation_p.A403S|KAT7_ENST00000259021.4_Missense_Mutation_p.A589S|KAT7_ENST00000510819.1_Missense_Mutation_p.A420S|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.A559S|KAT7_ENST00000509773.1_Missense_Mutation_p.A479S			O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	589					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A589S(2)									AGCCAAAGAGGCCAAAAGGTC	0.453000													22	78					2.32416e-17	3.21491e-17	1	1	0
PSG7	5676	broad.mit.edu	37	19	43441198	43441198	+	RNA	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:43441198G>T	ENST00000446844.3	-	0	120				PSG7_ENST00000406070.2_RNA|PSG7_ENST00000471557.1_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GTTATATGCTGTGTGCAGGGA	0.572000													79	135					3.37217e-29	5.19049e-29	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155249289	155249289	+	Missense_Mutation	SNP	G	G	T	rs111557030	byFrequency	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:155249289G>T	ENST00000357232.3	-	12	2608	c.2609C>A	c.(2608-2610)cCt>cAt	p.P870H	DCHS2_ENST00000339452.1_Missense_Mutation_p.P1325H	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	870	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P870H(1)|p.P1325H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348000													62	163					1.12612e-26	1.68381e-26	1	1	0
CYBB	1536	broad.mit.edu	37	X	37663315	37663315	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:37663315G>T	ENST00000378588.4	+	9	1150	c.1083G>T	c.(1081-1083)tgG>tgT	p.W361C	CYBB_ENST00000536160.1_Missense_Mutation_p.W94C|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.W329C|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	361	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	p.W361C(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TTGGGGACTGGACAGAGGGGC	0.473000													8	69					1.58986e-06	1.83536e-06	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139380184	139380184	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:139380184G>T	ENST00000395297.1	-	2	213	c.43C>A	c.(43-45)Cat>Aat	p.H15N		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	15								p.H15N(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAAAATTTATGTAGCTCTACC	0.363000										HNSCC(54;0.14)			77	174					5.92634e-42	1.00588e-41	1	1	0
WHSC1	7468	broad.mit.edu	37	4	1902791	1902791	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:1902791C>T	ENST00000503128.1	+	2	617	c.410C>T	c.(409-411)cCt>cTt	p.P137L	WHSC1_ENST00000382892.2_Missense_Mutation_p.P137L|WHSC1_ENST00000382895.3_Missense_Mutation_p.P137L|WHSC1_ENST00000398261.1_Missense_Mutation_p.P137L|WHSC1_ENST00000382891.5_Missense_Mutation_p.P137L|WHSC1_ENST00000514045.1_Missense_Mutation_p.P137L|WHSC1_ENST00000508803.1_Missense_Mutation_p.P137L|WHSC1_ENST00000436793.1_Missense_Mutation_p.P137L|WHSC1_ENST00000420906.2_Missense_Mutation_p.P137L			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	137					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	p.P137L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		AATGGGAAGCCTCTCTTTGAA	0.428000			T	IGH@	MM								17	98					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901330	51901330	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:51901330C>T	ENST00000268919.4	+	1	1092	c.936C>T	c.(934-936)acC>acT	p.T312T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	312	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.T312T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGACGTACACCATGGGTGGAG	0.542000													58	93					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								8	81					0	0	1	0	0
C19orf35	374872	broad.mit.edu	37	19	2276472	2276472	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:2276472G>T	ENST00000342063.3	-	4	722	c.629C>A	c.(628-630)gCg>gAg	p.A210E		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	210								p.A210E(1)		large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCACGTCCGCCCCGGGCTT	0.706000													9	9					6.40141e-05	7.05278e-05	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38225510	38225510	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:38225510G>A	ENST00000379705.3	-	8	2828	c.1971C>T	c.(1969-1971)ttC>ttT	p.F657F	TRPC4_ENST00000379679.1_Silent_p.F484F|TRPC4_ENST00000379681.3_Silent_p.F657F|TRPC4_ENST00000447043.1_Silent_p.F657F|TRPC4_ENST00000338947.5_Silent_p.F484F|TRPC4_ENST00000358477.2_Silent_p.F657F|TRPC4_ENST00000355779.2_Silent_p.F657F|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	657	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	p.F657F(2)		NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGATGACATTGAAGGGAGTAG	0.433000													36	127					0	0	1	0	0
INPP4B	8821	broad.mit.edu	37	4	143033741	143033741	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:143033741C>G	ENST00000513000.1	-	23	2663	c.2230G>C	c.(2230-2232)Gta>Cta	p.V744L	INPP4B_ENST00000509777.1_Missense_Mutation_p.V744L|INPP4B_ENST00000308502.4_Missense_Mutation_p.V744L|INPP4B_ENST00000262992.4_Missense_Mutation_p.V744L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V744L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	744					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.V744L(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTAAAAAGTACTGGATACACA	0.393000													39	170					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798578	55798578	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:55798578C>A	ENST00000313555.1	+	1	684	c.684C>A	c.(682-684)atC>atA	p.I228I		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I228I(1)		endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGTTGAGCATCAAGTCCTCAG	0.448000													96	229					7.0627e-44	1.23205e-43	1	1	0
DEFA6	1671	broad.mit.edu	37	8	6782358	6782358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:6782358G>T	ENST00000297436.2	-	2	325	c.285C>A	c.(283-285)caC>caA	p.H95Q		NM_001926.3	NP_001917.1	Q01524	DEF6_HUMAN	defensin, alpha 6, Paneth cell-specific	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.H95Q(1)		lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		AGCAGAATCTGTGGTTAATAC	0.433000													7	85					1.26484e-09	1.51588e-09	1	1	0
IP6K3	117283	broad.mit.edu	37	6	33696019	33696019	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:33696019G>C	ENST00000451316.1	-	4	793	c.258C>G	c.(256-258)aaC>aaG	p.N86K	IP6K3_ENST00000293756.4_Missense_Mutation_p.N86K	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	86					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity	p.N86K(1)		skin(1)	1						CCTTCACTGGGTTGGCAACCA	0.612000													27	83					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100675218	100675218	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:100675218C>T	ENST00000306151.4	+	3	585	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	174	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A174V(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTTTGAGGCCTACACATCT	0.468000													34	351					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91134201	91134201	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:91134201C>A	ENST00000373094.1	+	2	3807	c.2962C>A	c.(2962-2964)Ccc>Acc	p.P988T	PCDH11X_ENST00000395337.2_Missense_Mutation_p.P988T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P988T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P988T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P988T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P988T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P988T(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CAGTTCAGATCCCTACAGCGT	0.493000													98	99					2.65435e-51	4.70885e-51	1	1	0
PDE1A	5136	broad.mit.edu	37	2	183095827	183095827	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:183095827G>T	ENST00000435564.1	-	5	697	c.497C>A	c.(496-498)gCc>gAc	p.A166D	PDE1A_ENST00000456212.1_Missense_Mutation_p.A166D|PDE1A_ENST00000410103.1_Missense_Mutation_p.A166D|PDE1A_ENST00000409365.1_Missense_Mutation_p.A150D|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.A132D|PDE1A_ENST00000536095.1_Missense_Mutation_p.A62D|PDE1A_ENST00000331935.6_Missense_Mutation_p.A166D|PDE1A_ENST00000351439.5_Missense_Mutation_p.A150D|PDE1A_ENST00000358139.2_Missense_Mutation_p.A166D	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	166					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A166D(2)		endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TTCATTTAGGGCAAATACATC	0.328000													52	189					1.51926e-22	2.15858e-22	1	1	0
CUL1	8454	broad.mit.edu	37	7	148463701	148463701	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:148463701C>T	ENST00000325222.4	+	8	1117	c.838C>T	c.(838-840)Cat>Tat	p.H280Y	CUL1_ENST00000602748.1_Missense_Mutation_p.H280Y|CUL1_ENST00000409469.1_Missense_Mutation_p.H280Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	280					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding	p.H280Y(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGTTTACCTTCATGAAAGCAC	0.373000													8	131					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747139	158747139	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:158747139C>A	ENST00000339258.1	-	1	286	c.287G>T	c.(286-288)gGa>gTa	p.G96V		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G96V(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AAGGAGGCATCCTGCAAAAGA	0.458000													113	230					2.66069e-56	4.77403e-56	1	1	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212024	90212024	+	RNA	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:90212024C>A	ENST00000390277.2	+	0	213																											GGGGAAAGAGCCACCCTCTCC	0.522000													54	139					1.68737e-39	2.79842e-39	1	1	0
RYR2	6262	broad.mit.edu	37	1	237777623	237777623	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:237777623A>G	ENST00000366574.2	+	37	5512	c.5195A>G	c.(5194-5196)gAg>gGg	p.E1732G	RYR2_ENST00000542537.1_Missense_Mutation_p.E1716G|RYR2_ENST00000360064.6_Missense_Mutation_p.E1730G	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1732	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.E1730G(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGACGGAGGAGACGAAGAGC	0.552000													4	76					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								5	88					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26524847	26524847	+	Missense_Mutation	SNP	C	C	T	rs149779483	byFrequency	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:26524847C>T	ENST00000456354.2	+	6	816	c.749C>T	c.(748-750)gCg>gTg	p.A250V		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	250					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	p.A250V(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		ATACAGGTTGCGCTGTACACC	0.532000													23	459					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45938491	45938491	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:45938491C>T	ENST00000374391.2	+	10	1331	c.1278C>T	c.(1276-1278)aaC>aaT	p.N426N	ALOX5_ENST00000542434.1_Silent_p.N426N|ALOX5_ENST00000493336.1_3'UTR	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	426	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TCCAGGCCAACGCCACAGGGG	0.667000													9	176					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062055	194062055	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:194062055C>T	ENST00000323830.3	-	2	1466	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	CPN2_ENST00000429275.1_Silent_p.P459P	NM_001080513.2	NP_001073982.2	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	459					protein stabilization	extracellular region	enzyme regulator activity	p.P459P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTTTCGTCCGGCCACGTGA	0.662000													23	228					0	0	1	0	0
KCNH1	3756	broad.mit.edu	37	1	210970995	210970995	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:210970995G>T	ENST00000367007.4	-	9	1858	c.1689C>A	c.(1687-1689)ctC>ctA	p.L563L	KCNH1_ENST00000271751.4_Silent_p.L590L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	590					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	p.L590L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		CCAGTGCCCGGAGGCAGCCAT	0.612000													57	116					1.95512e-22	2.76535e-22	1	1	0
ZDHHC11	79844	broad.mit.edu	37	5	850513	850513	+	Nonsense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:850513T>A	ENST00000283441.8	-	1	588	c.205A>T	c.(205-207)Aaa>Taa	p.K69*	ZDHHC11_ENST00000424784.2_Nonsense_Mutation_p.K69*	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	69						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCAATGTATTTCCACGCGTGA	0.582000													6	168					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68405509	68405509	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:68405509G>A	ENST00000219334.5	-	3	1179	c.576C>T	c.(574-576)ggC>ggT	p.G192G	SMPD3_ENST00000563226.1_Silent_p.G192G|SMPD3_ENST00000568373.1_Silent_p.G192G	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	192					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CCCCATCGCCGCCCTGTGGTG	0.657000													4	65					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9457374	9457374	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:9457374C>A	ENST00000378501.2	+	35	3485	c.3470C>A	c.(3469-3471)tCc>tAc	p.S1157Y	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Intron|PLCB4_ENST00000378473.3_Intron|PLCB4_ENST00000334005.3_Missense_Mutation_p.S1157Y|PLCB4_ENST00000278655.4_Intron|PLCB4_ENST00000414679.2_Intron	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	490					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.S1157Y(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CTTTTGAAATCCTGTCATGCA	0.368000													33	33					2.19358e-23	3.15956e-23	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186121913	186121913	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:186121913G>T	ENST00000271588.4	+	96	15157	c.14928G>T	c.(14926-14928)cgG>cgT	p.R4976R	HMCN1_ENST00000367492.2_Silent_p.R4976R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4976	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4976R(1)|p.R4976>?(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATATTGCCCGGGGCTTGGATT	0.428000													84	208					1.13884e-41	1.92256e-41	1	1	0
UNC80	285175	broad.mit.edu	37	2	210642106	210642106	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:210642106G>T	ENST00000439458.1	+	4	503	c.423G>T	c.(421-423)tgG>tgT	p.W141C	UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.W141C	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	141						integral to membrane		p.W141C(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						GCTCCAGCTGGGGTGGAAGCA	0.552000													41	114					2.40579e-17	3.31324e-17	1	1	0
MYOM3	127294	broad.mit.edu	37	1	24434529	24434529	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:24434529C>T	ENST00000330966.7	-	3	361	c.199G>A	c.(199-201)Gcc>Acc	p.A67T	MYOM3_ENST00000329601.7_Missense_Mutation_p.A66T|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.A66T			Q5VTT5	MYOM3_HUMAN	myomesin 3	66								p.A66T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTGCCAGGGCGTAGTCCGCG	0.632000													47	111					0	0	1	0	0
DACH1	1602	broad.mit.edu	37	13	72134055	72134055	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:72134055G>A	ENST00000305425.4	-	5	1760	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	DACH1_ENST00000359684.2_Silent_p.P498P|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	496					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.P446P(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTCCAGAGAGGGGGCAGGTG	0.542000													25	22					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135556	55135556	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:55135556C>T	ENST00000314706.3	+	1	197	c.197C>T	c.(196-198)aCg>aTg	p.T66M		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T66M(2)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TACATGGTGACGATAATGGGC	0.423000													36	144					0	0	1	0	0
SESTD1	91404	broad.mit.edu	37	2	179986618	179986618	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179986618G>C	ENST00000428443.3	-	13	1637	c.1321C>G	c.(1321-1323)Ctc>Gtc	p.L441V		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	441					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	p.L441V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGATCCAGGAGACCTTGACCT	0.418000													36	141					0	0	1	0	0
GLIPR1	11010	broad.mit.edu	37	12	75875665	75875665	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:75875665C>A	ENST00000266659.3	+	2	427	c.226C>A	c.(226-228)Cag>Aag	p.Q76K		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	76					cellular lipid metabolic process	extracellular region|integral to membrane		p.Q76K(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CAGCAATTGCCAGTTTTCACA	0.463000													98	177					6.84326e-50	1.20718e-49	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77764127	77764127	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:77764127C>A	ENST00000521891.2	+	10	5418	c.4970C>A	c.(4969-4971)gCt>gAt	p.A1657D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1631D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1612D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1612D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1612	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A1657D(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGTTTAGCAGCTGTAAACAGC	0.468000										HNSCC(33;0.089)			23	127					0.000295444	0.000317703	1	1	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000402731.1_Silent_p.S343S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	141					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17634768	17634768	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:17634768C>A	ENST00000375448.4	+	1	77	c.51C>A	c.(49-51)gcC>gcA	p.A17A	PADI4_ENST00000375453.1_Silent_p.A17A	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	17					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	p.A17A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACCCATGCCGTGTGTGTGC	0.622000													31	111					8.73648e-17	1.18244e-16	1	1	0
RRAS2	22800	broad.mit.edu	37	11	14316111	14316111	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:14316111T>C	ENST00000545643.1	-	4	645	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	RRAS2_ENST00000537760.1_Missense_Mutation_p.Y70C|RRAS2_ENST00000529237.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000532814.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000256196.4_Missense_Mutation_p.Y105C|RRAS2_ENST00000526063.1_Missense_Mutation_p.Y28C|RRAS2_ENST00000414023.2_Missense_Mutation_p.Y28C|RRAS2_ENST00000534746.1_Missense_Mutation_p.Y28C	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	105						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding	p.Y105C(1)		breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		TTGAAACTTATAGATTTCTTC	0.308000													15	58					0	0	1	0	0
OR5B17	219965	broad.mit.edu	37	11	58125640	58125640	+	Silent	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:58125640C>T	ENST00000357377.3	-	1	902	c.903G>A	c.(901-903)aaG>aaA	p.K301K		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K301K(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TCTCAACAACCTTCATGAATG	0.348000													58	152					0	0	1	0	0
TXLNG	55787	broad.mit.edu	37	X	16855792	16855792	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:16855792G>C	ENST00000380122.5	+	8	1197	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	TXLNG_ENST00000398155.4_Missense_Mutation_p.R247T	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	379					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						ACAACCTTCAGACAGGAAATG	0.294000													5	57					0	0	1	0	0
GIPC1	10755	broad.mit.edu	37	19	14591185	14591185	+	Missense_Mutation	SNP	C	C	A	rs147512845		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr19:14591185C>A	ENST00000393033.4	-	6	856	c.587G>T	c.(586-588)cGg>cTg	p.R196L	GIPC1_ENST00000393029.3_Missense_Mutation_p.R99L|GIPC1_ENST00000591349.1_Missense_Mutation_p.R99L|GIPC1_ENST00000586027.1_Missense_Mutation_p.R196L|GIPC1_ENST00000393028.1_Missense_Mutation_p.R99L|GIPC1_ENST00000345425.2_Missense_Mutation_p.R196L	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	196	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding	p.R196L(1)		endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						CTTGAGCAGCCGGGCCACCTC	0.672000											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	64	81					1.85135e-42	3.15937e-42	1	1	0
CDKN2A	1029	broad.mit.edu	37	9	21971140	21971140	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:21971140G>T	ENST00000304494.5	-	2	488	c.218C>A	c.(217-219)gCc>gAc	p.A73D	CDKN2A_ENST00000498628.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000578845.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000497750.1_Missense_Mutation_p.A22D|CDKN2A_ENST00000479692.2_Missense_Mutation_p.A22D|CDKN2A_ENST00000361570.3_Silent_p.R128R|CDKN2A_ENST00000530628.2_Silent_p.R87R|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000446177.1_Missense_Mutation_p.A73D|CDKN2A_ENST00000494262.1_Missense_Mutation_p.A22D|CDKN2A_ENST00000579755.1_Silent_p.R87R|CDKN2A_ENST00000498124.1_Missense_Mutation_p.A73D	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	73					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.A73D(2)|p.A73G(1)|p.E61_L94del(1)|p.0(1)|p.V59fs*45(1)|p.L65fs*38(1)|p.A68fs*3(1)|p.R128R(1)|p.C72fs*71(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)		GGCGGGGTCGGCGCAGTTGGG	0.711000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			6	12					0.000274275	0.000295953	1	1	0
HMGA2	8091	broad.mit.edu	37	12	66221790	66221790	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:66221790G>T	ENST00000541363.1	+	2	494	c.121G>T	c.(121-123)Ggt>Tgt	p.G41C	HMGA2_ENST00000393577.3_Missense_Mutation_p.G41C|HMGA2_ENST00000354636.3_Missense_Mutation_p.G41C|HMGA2_ENST00000536545.1_Missense_Mutation_p.G41C|HMGA2_ENST00000425208.2_Missense_Mutation_p.G41C|HMGA2_ENST00000403681.2_Missense_Mutation_p.G41C|HMGA2_ENST00000393578.3_Missense_Mutation_p.G41C			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	41					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding	p.G41C(2)	HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GGAACCAACCGGTGAGCCCTC	0.448000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								19	120					3.51602e-12	4.52471e-12	1	1	0
PXDNL	137902	broad.mit.edu	37	8	52384748	52384748	+	Splice_Site	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:52384748T>A	ENST00000356297.4	-	8	911	c.812_splice	c.e8+1	p.N271_splice	PXDNL_ENST00000543296.1_Splice_Site_p.N271_splice	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	271	Ig-like C2-type 1.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.N271Y(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGTATTTACTTGTTGTGTATC	0.413000													57	105					0	0	1	0	0
FBXL7	23194	broad.mit.edu	37	5	15928116	15928116	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:15928116G>C	ENST00000504595.1	+	3	726	c.245G>C	c.(244-246)gGg>gCg	p.G82A	FBXL7_ENST00000329673.7_Missense_Mutation_p.G70A|FBXL7_ENST00000510662.1_Missense_Mutation_p.G35A	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	82					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCATCACCGGGGAGACGGTG	0.657000													10	175					0	0	1	0	0
GALNTL6	442117	broad.mit.edu	37	4	173734827	173734827	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:173734827C>A	ENST00000506823.1	+	7	1533	c.876C>A	c.(874-876)atC>atA	p.I292I	GALNTL6_ENST00000508122.1_Silent_p.I275I	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	292						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I292I(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						ACAAAAGAATCCCCATCCCTC	0.562000													41	91					2.47872e-24	3.62009e-24	1	1	0
WT1	7490	broad.mit.edu	37	11	32414287	32414287	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:32414287G>T	ENST00000332351.3	-	8	1548	c.1264C>A	c.(1264-1266)Cag>Aag	p.Q422K	WT1_ENST00000379079.2_Missense_Mutation_p.Q210K|WT1_ENST00000448076.3_Missense_Mutation_p.Q422K|WT1_ENST00000530998.1_Missense_Mutation_p.Q193K	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	354					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q354K(1)|p.Q210K(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGTCACACTGGTATGGTTTC	0.428000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				20	53					1.01871e-10	1.25935e-10	1	1	0
LAMA3	3909	broad.mit.edu	37	18	21513860	21513860	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr18:21513860T>A	ENST00000313654.9	+	67	9064	c.8823T>A	c.(8821-8823)tcT>tcA	p.S2941S	LAMA3_ENST00000399516.3_Silent_p.S2885S|LAMA3_ENST00000269217.6_Silent_p.S1332S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.S1276S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2941					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.S1332S(1)|p.S2941S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTAAAGGTTCTACCAGGTTTA	0.468000													19	107					0	0	1	0	0
CSAG4	100130935	broad.mit.edu	37	X	151896589	151896589	+	RNA	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:151896589C>A	ENST00000361201.4	-	0	351					NR_073432.1													p.L11F(1)		endometrium(2)|kidney(2)|lung(1)	5						GGTTGTTGGACAATGGGCTGG	0.557000													8	246					1.61879e-10	1.97016e-10	1	1	0
CLEC16A	23274	broad.mit.edu	37	16	11217633	11217633	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:11217633G>A	ENST00000409790.1	+	21	2533	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	CLEC16A_ENST00000409552.3_Missense_Mutation_p.R750H|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	768								p.R768H(1)|p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GACGACAGCCGTGCCCTGAAC	0.592000													46	161					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134465353	134465353	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:134465353G>T	ENST00000372195.1	-	16	2523	c.2280C>A	c.(2278-2280)ttC>ttA	p.F760L	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.F761L|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.F743L			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	743	N-terminal Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CAAAGGGAGAGAATTTCTCAT	0.547000													16	88					7.21436e-19	1.0113e-18	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143843	56143843	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:56143843C>A	ENST00000302270.1	+	1	744	c.744C>A	c.(742-744)gtC>gtA	p.V248V		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1									p.V248V(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TGCTGGCAGTCACCATATTCT	0.483000													56	155					2.12129e-23	3.08372e-23	1	1	0
FAT4	79633	broad.mit.edu	37	4	126389833	126389833	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:126389833G>C	ENST00000394329.3	+	11	12079	c.12066G>C	c.(12064-12066)cgG>cgC	p.R4022R	FAT4_ENST00000335110.5_Silent_p.R2285R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4022	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R4022R(1)|p.R3987R(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGGCGACCGGGCTGAGTTTT	0.408000													20	138					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75609600	75609600	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:75609600A>T	ENST00000294638.5	+	7	1345	c.681A>T	c.(679-681)agA>agT	p.R227S	LHX8_ENST00000356261.3_Missense_Mutation_p.R217S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R227S(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAGCAAAAAGAGCTCGGACCA	0.403000													16	89					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20327355	20327355	+	Nonsense_Mutation	SNP	G	G	T	rs140017290		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:20327355G>T	ENST00000302555.5	-	9	1573	c.1424C>A	c.(1423-1425)tCa>tAa	p.S475*	GP2_ENST00000381360.5_Nonsense_Mutation_p.S331*|GP2_ENST00000381362.4_Nonsense_Mutation_p.S478*|GP2_ENST00000341642.5_Nonsense_Mutation_p.S328*			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	478	ZP.					anchored to membrane|extracellular region|plasma membrane		p.S475*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGACTTCTTGAGCAAGACTG	0.478000													42	100					1.48646e-12	1.92078e-12	1	1	0
ESCO1	114799	broad.mit.edu	37	18	19110322	19110322	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr18:19110322A>G	ENST00000269214.5	-	12	3442	c.2505T>C	c.(2503-2505)aaT>aaC	p.N835N		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	835					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding	p.N835N(1)		breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TATTCTGTCCATTAATAAAAT	0.398000													20	156					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596736	75596736	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:75596736A>G	ENST00000502798.2	+	11	2261	c.1819A>G	c.(1819-1821)Att>Gtt	p.I607V	RP11-466P24.6_ENST00000502589.1_RNA|SV2C_ENST00000322285.7_Missense_Mutation_p.I607V	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	607					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.I607V(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GATGGACAGAATTGGGCGCTT	0.463000													91	158					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926644	31926644	+	Silent	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:31926644C>G	ENST00000300870.10	+	4	1283	c.1074C>G	c.(1072-1074)gtC>gtG	p.V358V	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	358					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V358V(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GTGGCAAGGTCTTTAACCTTA	0.358000													83	288					0	0	1	0	0
ADRA1D	146	broad.mit.edu	37	20	4228878	4228878	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr20:4228878C>T	ENST00000379453.4	-	1	843	c.727G>A	c.(727-729)Gag>Aag	p.E243K		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	243					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity	p.E243K(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	CAGAAGCGCTCGTCAGGGGGC	0.677000													3	10					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2966188	2966188	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:2966188G>T	ENST00000520002.1	-	45	7249	c.6694C>A	c.(6694-6696)Caa>Aaa	p.Q2232K	CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2231K|CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2231K|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2232K|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2232K|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2232K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2232	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGGACTTGGTTGGTGGAG	0.493000													4	27					0.00024832	0.000268871	1	1	0
TTN	7273	broad.mit.edu	37	2	179614862	179614862	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179614862G>A	ENST00000360870.5	-	46	12487	c.12265C>T	c.(12265-12267)Cca>Tca	p.P4089S	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3468							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)			GGAGGAACTGGTGGGTTAGTT	0.433000													7	156					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14964604	14964604	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:14964604G>A	ENST00000285046.5	+	16	3969	c.3859G>A	c.(3859-3861)Gac>Aac	p.D1287N	FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000543601.1_Missense_Mutation_p.D1046N|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1287					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.D1287N(1)|p.D1046N(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTACCTGAAGGACAGGATGGC	0.612000													9	101					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79351687	79351687	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:79351687G>T	ENST00000350881.2	+	3	562	c.372G>T	c.(370-372)cgG>cgT	p.R124R	THBS4_ENST00000511733.1_Silent_p.R33R|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	124	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	p.R124R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACGGAAGGCGGCACAGGATCC	0.567000													38	241					2.51541e-25	3.70816e-25	1	1	0
MORC3	23515	broad.mit.edu	37	21	37721643	37721643	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr21:37721643T>C	ENST00000400485.1	+	9	1116	c.1040T>C	c.(1039-1041)aTa>aCa	p.I347T	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	347					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding	p.I347T(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						GTTGGAATTATAGAGTGTAAT	0.313000													18	105					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20449248	20449248	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:20449248C>A	ENST00000222573.3	+	13	2718	c.2034C>A	c.(2032-2034)tcC>tcA	p.S678S	ITGB8_ENST00000537992.1_Silent_p.S543S	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	678					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.S678S(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						AATGTTTCTCCAGCCCAAGCT	0.303000													90	279					8.2166e-39	1.34376e-38	1	1	0
DCAF7	10238	broad.mit.edu	37	17	61657205	61657205	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:61657205G>T	ENST00000310827.4	+	4	646	c.429G>T	c.(427-429)acG>acT	p.T143T	DCAF7_ENST00000431926.1_Silent_p.T143T|DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	143					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding	p.T143T(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						GCATTGATACGACATGCACCA	0.547000													12	92					9.31168e-06	1.05937e-05	1	1	0
VBP1	7411	broad.mit.edu	37	X	154464554	154464554	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:154464554G>A	ENST00000286428.5	+	5	546	c.429G>A	c.(427-429)ttG>ttA	p.L143L	VBP1_ENST00000535916.1_Silent_p.L138L|VBP1_ENST00000459836.1_3'UTR	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	143					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	p.L143L(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCAGGCATTGTTGGAAAAGA	0.368000													44	141					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41038956	41038956	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:41038956G>T	ENST00000399564.4	-	21	2546	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	MROH2B_ENST00000506092.2_Missense_Mutation_p.T254K	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B									p.T699K(1)									CATGACATCTGTCTTGGTCAG	0.433000													49	86					4.78724e-31	7.51597e-31	1	1	0
BTBD11	121551	broad.mit.edu	37	12	107914364	107914364	+	Silent	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:107914364C>A	ENST00000280758.5	+	2	1764	c.1236C>A	c.(1234-1236)acC>acA	p.T412T	BTBD11_ENST00000420571.2_Silent_p.T412T|BTBD11_ENST00000490090.2_Silent_p.T412T	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	412						integral to membrane	DNA binding	p.T412T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCTGAGGACCATCGAGCAGT	0.557000													32	177					1.45844e-13	1.9161e-13	1	1	0
LINS	55180	broad.mit.edu	37	15	101114244	101114244	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:101114244C>A	ENST00000314742.8	-	5	1056	c.834G>T	c.(832-834)ttG>ttT	p.L278F	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.L278F|LINS_ENST00000560133.1_Missense_Mutation_p.L159F	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	278										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						AAGATGGTTTCAAAAATAAAA	0.398000													7	126					0.00198382	0.00206265	1	1	0
ABCA3	21	broad.mit.edu	37	16	2376065	2376065	+	Missense_Mutation	SNP	C	C	A	rs150902383		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:2376065C>A	ENST00000301732.5	-	5	965	c.265G>T	c.(265-267)Gct>Tct	p.A89S	ABCA3_ENST00000567910.1_Missense_Mutation_p.A89S|ABCA3_ENST00000382381.3_Missense_Mutation_p.A89S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	89					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.A89S(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				GTCTTGGCAGCGTCACTGTGA	0.612000													29	98					7.01153e-11	8.73659e-11	1	1	0
OR2Y1	134083	broad.mit.edu	37	5	180167004	180167004	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:180167004C>G	ENST00000307832.2	-	1	95	c.55G>C	c.(55-57)Gat>Cat	p.D19H		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D19H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCGGCCAATCTGAGAATCCC	0.458000													4	119					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70681814	70681814	+	Silent	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:70681814T>A	ENST00000377844.4	-	1	777	c.18A>T	c.(16-18)cgA>cgT	p.R6R	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	6					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.R6R(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGAAGTCTTTTCGCCCAGAGC	0.642000													7	40					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38798230	38798230	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:38798230C>A	ENST00000449082.2	-	9	1224	c.1225G>T	c.(1225-1227)Gat>Tat	p.D409Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	409					sensory perception	voltage-gated sodium channel complex		p.D409Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCAATTTCATCAGTGGTTGCC	0.493000													53	225					1.83081e-24	2.68633e-24	1	1	0
RUNX1T1	862	broad.mit.edu	37	8	92972678	92972678	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:92972678C>A	ENST00000523629.1	-	12	2061	c.1607G>T	c.(1606-1608)gGc>gTc	p.G536V	RUNX1T1_ENST00000518844.1_Missense_Mutation_p.G509V|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.G499V|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.G509V|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.G499V|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.G499V|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.G536V|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.G547V	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	536					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G499V(1)|p.G536V(1)|p.G547V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GCAAAATGAGCCACAGTATCG	0.537000													15	103					9.16793e-09	1.08223e-08	1	1	0
LUZP2	338645	broad.mit.edu	37	11	24759849	24759849	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:24759849G>T	ENST00000533227.1	+	4	362		c.e4+1		LUZP2_ENST00000531187.1_Splice_Site|LUZP2_ENST00000336930.6_Splice_Site	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2							extracellular region		p.?(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCAGGCTACTGTAAGTGTGTT	0.368000													20	47					4.35082e-09	5.17483e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179577475	179577475	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:179577475C>T	ENST00000589042.1	-	94	27501	c.27277G>A	c.(27277-27279)Gtt>Att	p.V9093I	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V7849I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V8776I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8776	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V7849I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATTGCTAACTATGCAAGTA	0.393000													43	97					0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73053228	73053228	+	Silent	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:73053228G>A	ENST00000335350.6	+	12	2255	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	UNC5B_ENST00000373192.4_Silent_p.L602L	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	613	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.L613L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAGGCCTCCTGCTGTGCCGCC	0.637000													53	179					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169656275	169656275	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:169656275G>A	ENST00000428432.2	+	9	1711	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	SAMD7_ENST00000335556.3_Missense_Mutation_p.R441Q	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	441								p.R441Q(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGAATTGAGCGAGGTAGTATG	0.413000													12	51					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51314846	51314846	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:51314846T>A	ENST00000522124.1	+	4	765	c.104T>A	c.(103-105)aTt>aAt	p.I35N	SNTG1_ENST00000276467.5_Missense_Mutation_p.I35N|SNTG1_ENST00000518864.1_Missense_Mutation_p.I35N|SNTG1_ENST00000517473.1_Missense_Mutation_p.I35N	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	35					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.I35N(2)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GCCAAAGACATTTTGATGATC	0.383000													36	211					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204409332	204409332	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:204409332C>T	ENST00000367187.3	-	23	3923	c.3367G>A	c.(3367-3369)Ggc>Agc	p.G1123S	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.G1095S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1123	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGCCCCGGCCGGTGGAGAAG	0.582000													11	188					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77377632	77377632	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:77377632T>A	ENST00000451710.3	-	26	4192	c.3955A>T	c.(3955-3957)Agg>Tgg	p.R1319W	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1319W|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1319W|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1314W|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1314W			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1319					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1319W(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTTCTTGCCTTTCCTGGTCA	0.478000													48	290					0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3028249	3028249	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:3028249G>T	ENST00000381127.1	+	10	1567	c.1346G>T	c.(1345-1347)tGt>tTt	p.C449F	ARSF_ENST00000359361.2_Missense_Mutation_p.C449F|ARSF_ENST00000537104.1_Missense_Mutation_p.C449F	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	449						extracellular region	arylsulfatase activity|metal ion binding	p.C449F(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCACTACTGTGGCTCCTAC	0.592000													47	61					1.51926e-22	2.15858e-22	1	1	0
KIF18A	81930	broad.mit.edu	37	11	28116239	28116239	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:28116239T>C	ENST00000263181.6	-	3	724	c.434A>G	c.(433-435)gAt>gGt	p.D145G		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	145	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.D145G(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTTAATCTCATCCATGCATTT	0.383000													45	188					0	0	1	0	0
POU1F1	5449	broad.mit.edu	37	3	87311358	87311358	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:87311358G>T	ENST00000350375.2	-	4	591	c.467C>A	c.(466-468)gCc>gAc	p.A156D	POU1F1_ENST00000560656.1_Intron|POU1F1_ENST00000344265.3_Missense_Mutation_p.A182D	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	156	POU-specific.				negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A156D(1)|p.A182D(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		AGCTGCCAGGGCCTCCCCAAC	0.423000													26	134					1.66031e-10	2.01288e-10	1	1	0
ANK2	287	broad.mit.edu	37	4	114279055	114279055	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:114279055C>A	ENST00000357077.4	+	38	9334	c.9281C>A	c.(9280-9282)cCa>cAa	p.P3094Q	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P3061Q|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3061					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.P3094Q(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GAGGGGACCCCAACAAGTGAG	0.458000													12	96					6.40141e-05	7.05278e-05	1	1	0
MST1	4485	broad.mit.edu	37	3	49723531	49723531	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:49723531G>T	ENST00000449682.2	-	9	1472	c.1111C>A	c.(1111-1113)Cag>Aag	p.Q371K	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	357	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGCCGGATCTGGTAGCAAAAG	0.682000													3	36					1	1	1	1	0
U2AF1	7307	broad.mit.edu	37	21	44524456	44524456	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr21:44524456G>A	ENST00000291552.4	-	2	193	c.101C>T	c.(100-102)tCt>tTt	p.S34F	U2AF1_ENST00000380276.2_Missense_Mutation_p.S34F|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	34					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding	p.S34F(45)|p.S34Y(12)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTGCAACCGAGAGCACCTGTC	0.358000			Mis		"""CLL, MDS"""								19	51					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871052	170871052	+	Silent	SNP	G	G	A	rs112083427		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:170871052G>A	ENST00000392092.2	+	3	507	c.228G>A	c.(226-228)caG>caA	p.Q76Q	TBP_ENST00000540980.1_Silent_p.Q56Q|TBP_ENST00000230354.6_Silent_p.Q76Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	76	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q76Q(4)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcagcagcagcagc	0.572000													15	86					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158595962	158595962	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:158595962A>C	ENST00000424310.2	-	8	1399	c.1040T>G	c.(1039-1041)tTc>tGc	p.F347C	RNF145_ENST00000520638.1_Missense_Mutation_p.F361C|RNF145_ENST00000521606.2_Missense_Mutation_p.F364C|RNF145_ENST00000274542.2_Missense_Mutation_p.F375C|RNF145_ENST00000519865.1_Missense_Mutation_p.F347C|RNF145_ENST00000518802.1_Missense_Mutation_p.F377C	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	347						integral to membrane	zinc ion binding	p.F375C(1)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGACAATGAAAAGGATAAT	0.428000													11	189					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114111054	114111054	+	Missense_Mutation	SNP	A	A	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr8:114111054A>C	ENST00000297405.5	-	5	1092	c.848T>G	c.(847-849)tTt>tGt	p.F283C	CSMD3_ENST00000352409.3_Missense_Mutation_p.F283C|CSMD3_ENST00000343508.3_Missense_Mutation_p.F243C|CSMD3_ENST00000455883.2_Missense_Mutation_p.F283C|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	283	CUB 2.					integral to membrane|plasma membrane		p.F283C(1)|p.F243C(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						AAAATCAGTAAATATGAGTGA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			10	124					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154169891	154169891	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:154169891C>T	ENST00000336314.4	+	2	236	c.212C>T	c.(211-213)tCt>tTt	p.S71F		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	148							protein binding|RNA binding	p.S148F(1)|p.S71F(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACAGAACACTCTGCTCCAGCC	0.547000													63	143					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915055	94915055	+	Nonsense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr14:94915055A>T	ENST00000334708.3	-	2	121	c.57T>A	c.(55-57)tgT>tgA	p.C19*	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	19					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.C201*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAAGGGGCTGACAGTGGACAG	0.547000													35	178					0	0	1	0	0
OR56B4	196335	broad.mit.edu	37	11	6129250	6129250	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:6129250C>A	ENST00000316529.3	+	1	337	c.242C>A	c.(241-243)aCc>aAc	p.T81N		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T81N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTGGCCACCACCATCATG	0.493000													19	88					3.8784e-16	5.20435e-16	1	1	0
KL	9365	broad.mit.edu	37	13	33635122	33635122	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:33635122G>A	ENST00000380099.3	+	4	1914	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	636	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	p.A636T(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCCAGTGGTGGCCCTGTGGCA	0.632000													18	156					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10426663	10426663	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:10426663G>C	ENST00000245503.5	-	38	5923	c.5539C>G	c.(5539-5541)Cgc>Ggc	p.R1847G	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847G|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1847G(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCATGTTTGCGCAGACCTTTG	0.468000													26	133					0	0	1	0	0
SSPN	8082	broad.mit.edu	37	12	26377286	26377286	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:26377286C>T	ENST00000242729.2	+	2	517	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	SSPN_ENST00000422622.2_Missense_Mutation_p.R11W|SSPN_ENST00000535504.1_Missense_Mutation_p.R114W|SSPN_ENST00000540266.1_Missense_Mutation_p.R11W|RP11-283G6.4_ENST00000540392.1_RNA	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	114					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle		p.R114W(1)		kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					GGTTGACGAACGGACATGTAT	0.378000													24	458					0	0	1	0	0
RBBP6	5930	broad.mit.edu	37	16	24582841	24582841	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:24582841C>A	ENST00000319715.4	+	18	4886	c.4454C>A	c.(4453-4455)tCc>tAc	p.S1485Y	RBBP6_ENST00000381039.3_Missense_Mutation_p.S645Y|RBBP6_ENST00000348022.2_Missense_Mutation_p.S1451Y	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1485	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.S1485Y(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TATTCAAGTTCCAAACGTAGA	0.378000													23	110					1.2476e-16	1.68131e-16	1	1	0
NDUFS1	4719	broad.mit.edu	37	2	206992595	206992595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:206992595G>A	ENST00000233190.5	-	16	2076	c.1810C>T	c.(1810-1812)Cag>Tag	p.Q604*	NDUFS1_ENST00000457011.1_Nonsense_Mutation_p.Q488*|NDUFS1_ENST00000455934.2_Nonsense_Mutation_p.Q618*|NDUFS1_ENST00000449699.1_Nonsense_Mutation_p.Q604*|NDUFS1_ENST00000440274.1_Nonsense_Mutation_p.Q568*|NDUFS1_ENST00000432169.1_Nonsense_Mutation_p.Q493*|NDUFS1_ENST00000423725.1_Nonsense_Mutation_p.Q547*	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	604					apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	p.Q604*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	TTAGTCTGCTGAGCTCTACCC	0.453000													47	111					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32688372	32688372	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:32688372C>T	ENST00000421745.2	+	24	4998	c.4864C>T	c.(4864-4866)Cat>Tat	p.H1622Y		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1622					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.H1622Y(1)|p.H1594Y(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTCTCTCTCTCATGCAATGGC	0.532000													5	44					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961522	34961522	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chrX:34961522C>G	ENST00000329357.5	+	1	610	c.574C>G	c.(574-576)Ccc>Gcc	p.P192A		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	192	Pro-rich.							p.P192A(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCCGCGGCCTCCCGAGACTCC	0.657000													35	22					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729253	41729253	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:41729253A>T	ENST00000242208.4	-	3	1522	c.1276T>A	c.(1276-1278)Tca>Aca	p.S426T	INHBA_ENST00000464515.1_5'UTR|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.S426T	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	426					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAACTCTATGAGCACCCACAC	0.453000										TSP Lung(11;0.080)			15	146					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23809344	23809344	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:23809344G>T	ENST00000354639.3	+	13	2077	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I	STK31_ENST00000433467.2_Missense_Mutation_p.S561I|STK31_ENST00000428484.1_Missense_Mutation_p.S538I|STK31_ENST00000355870.3_Missense_Mutation_p.S561I|STK31_ENST00000405627.3_3'UTR	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	561							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.S561I(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ACTGAGTCAAGTGTCTGCAAA	0.383000													111	287					1.22908e-42	2.13221e-42	1	1	0
OR2L2	26246	broad.mit.edu	37	1	248201977	248201977	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:248201977C>A	ENST00000366479.2	+	1	504	c.408C>A	c.(406-408)agC>agA	p.S136R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S136R(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCCGTATAAGCAAAAGAGTGT	0.433000													87	257					1.42536e-29	2.21565e-29	1	1	0
ZNF282	8427	broad.mit.edu	37	7	148921264	148921264	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:148921264G>A	ENST00000262085.3	+	8	1646	c.1541G>A	c.(1540-1542)cGc>cAc	p.R514H	ZNF282_ENST00000479907.1_Intron	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	514					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACGGCGCCCGCAGCAAGCCC	0.751000													6	40					0	0	1	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575351	153575351	+	Silent	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:153575351G>T	ENST00000326446.5	+	1	924	c.213G>T	c.(211-213)tcG>tcT	p.S71S		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	71						integral to membrane		p.S71S(1)		kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GAAAGCGCTCGGTGCTCCCGC	0.701000													4	40					1	1	1	1	0
BCR	613	broad.mit.edu	37	22	23630285	23630285	+	Splice_Site	SNP	G	G	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:23630285G>T	ENST00000305877.8	+	12	3279	c.2526_splice	c.e12-1	p.S843_splice	BCR_ENST00000359540.3_Splice_Site_p.S843_splice	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	843	PH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.S843I(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCACCCTAGAGTTACACGTTC	0.557000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								27	104					1.7367e-05	1.96159e-05	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55156545	55156545	+	Silent	SNP	G	G	C			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:55156545G>C	ENST00000257290.5	+	22	3277	c.2946G>C	c.(2944-2946)gtG>gtC	p.V982V	FIP1L1_ENST00000507166.1_Silent_p.V742V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	982					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V982V(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCATGCGTGTGGACTCAGACA	0.453000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			40	181					0	0	1	0	0
CACNA2D1	781	broad.mit.edu	37	7	81641517	81641517	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr7:81641517C>T	ENST00000356860.3	-	15	1653	c.1315G>A	c.(1315-1317)Gac>Aac	p.D439N	MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D439N|CACNA2D1_ENST00000464354.1_5'UTR|MIR1255B1_ENST00000454066.1_RNA	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	439						voltage-gated calcium channel complex	metal ion binding	p.D439N(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TTAGCTTTGTCTCCTGCTAAA	0.378000													25	95					0	0	1	0	0
MTMR2	8898	broad.mit.edu	37	11	95583771	95583771	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:95583771C>T	ENST00000393223.3	-	10	1243	c.581G>A	c.(580-582)cGt>cAt	p.R194H	MTMR2_ENST00000409459.1_Missense_Mutation_p.R194H|MTMR2_ENST00000352297.7_Missense_Mutation_p.R194H|MTMR2_ENST00000346299.5_Missense_Mutation_p.R266H	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	266						nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R194H(1)|p.R266H(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TACTGGGATACGGCCTCTTGA	0.408000													32	164					0	0	1	0	0
DNM1P47	100216544	broad.mit.edu	37	15	102292767	102292767	+	RNA	SNP	C	C	T	rs113047734	by1000genomes	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:102292767C>T	ENST00000561463.1	+	0	813																											CACAGCGGCGCGACGAGATGC	0.597000													5	54					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164756867	164756867	+	Splice_Site	SNP	G	G	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr3:164756867G>A	ENST00000264382.3	-	20	2362	c.2301_splice	c.e20+1	p.S767_splice		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	767	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.S767F(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTACTTACAGATTCATAATC	0.284000										HNSCC(35;0.089)			8	65					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	26					0	0	1	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395944	38395944	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:38395944C>T	ENST00000377698.3	+	2	352	c.199C>T	c.(199-201)Cac>Tac	p.H67Y		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	67					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity	p.H67F(1)		NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GGTCATTGGGCACGTGGCTGA	0.607000													44	118					0	0	1	0	0
PLEKHG5	57449	broad.mit.edu	37	1	6536011	6536013	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:6536011_6536013delCTC	ENST00000377748.1	-	4	855_857	c.358_360delGAG	c.(358-360)del	p.E120del	PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	99					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCACAGAGCTCTCCTCCTCCTCC	0.631											OREG0013041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	231	---	---	---	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:22838561_22838563delAAG	ENST00000404138.1	+	12	2906_2908	c.2395_2397delAAG	c.(2395-2397)del	p.K803del	ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													9	200	---	---	---	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr1:162326888_162326890delCAG	ENST00000361897.5	+	8	1303_1305	c.901_903delCAG	c.(901-903)del	p.Q306del	NOS1AP_ENST00000530878.1_In_Frame_Del_p.Q301del	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													7	173	---	---	---	---					
REG1P	5969	broad.mit.edu	37	2	79365197	79365198	+	RNA	INS	-	-	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:79365197_79365198insA	ENST00000444841.1	-	0	60_61																											AGCAAATCAGCAATCTCTATAG	0.475													16	24	---	---	---	---					
DNAJC10	54431	broad.mit.edu	37	2	183597269	183597269	+	Splice_Site	DEL	G	G	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr2:183597269delG	ENST00000264065.6	+	10	1264	c.849_splice	c.e10+1	p.L283_splice	DNAJC10_ENST00000537515.1_Splice_Site_p.L283_splice	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	283					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTGGCATGTTGGTAAGCATCA	0.328													70	208	---	---	---	---					
TMEM175	84286	broad.mit.edu	37	4	944247	944261	+	In_Frame_Del	DEL	GATTGCCGTCTACCT	GATTGCCGTCTACCT	-	rs142778595	byFrequency	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:944247_944261delGATTGCCGTCTACCT	ENST00000264771.4	+	4	416_430	c.231_245delGATTGCCGTCTACCT	c.(229-246)cgg>cg	p.RIAVYL77del	TMEM175_ENST00000508204.1_5'UTR|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	77						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TGGCAACACGGATTGCCGTCTACCTGATGACCTTT	0.581													35	141	---	---	---	---					
CXXC4	80319	broad.mit.edu	37	4	105412047	105412049	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr4:105412047_105412049delTCT	ENST00000394767.2	-	2	1361_1363	c.911_913delAGA	c.(910-915)agg>a	p.KR306del	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000466963.1_Intron|CXXC4_ENST00000426831.1_In_Frame_Del_p.KR137del	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	137					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		CACCTTTTCCTCTTCTTCTTGGC	0.571													26	196	---	---	---	---					
HK3	3101	broad.mit.edu	37	5	176315456	176315457	+	Frame_Shift_Del	DEL	CG	CG	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:176315456_176315457delCG	ENST00000292432.5	-	10	1271_1272	c.1180_1181delCG	c.(1180-1182)gfs	p.R394fs		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	394	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|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)			CTGGGCAGCCCGCGTGCACACG	0.668													5	9	---	---	---	---					
CTC-338M12.9	0	broad.mit.edu	37	5	180708697	180708698	+	RNA	INS	-	-	A	rs1815381		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr5:180708697_180708698insA	ENST00000412295.2	+	0	238																											ggggcggtaggcgggggctgga	0.718													7	10	---	---	---	---					
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr6:157100396_157100397insCGC	ENST00000346085.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcc>CGCgcc	p.444_445insR	ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR|ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	444	Ala-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787													6	10	---	---	---	---					
TLN1	7094	broad.mit.edu	37	9	35707111	35707112	+	Frame_Shift_Ins	INS	-	-	G			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:35707111_35707112insG	ENST00000314888.9	-	37	5265_5266	c.4912_4913insC	c.(4912-4914)tacfs	p.Y1638fs	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Frame_Shift_Ins_p.Y1638fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1638	Interaction with SYNM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGACAGTACGGGAGTGGCCG	0.599													32	308	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								12	297	---	---	---	---					
GDF10	2662	broad.mit.edu	37	10	48438647	48438649	+	In_Frame_Del	DEL	GCA	GCA	-	rs34420310		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:48438647_48438649delGCA	ENST00000224605.2	-	1	327_329	c.62_64delTGC	c.(61-66)ccg>c	p.LP21del		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	21					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						agaaacaacggcagcagcagcag	0.729													14	17	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gct>g	p.AP981del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	981	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													10	327	---	---	---	---					
OR52R1	119695	broad.mit.edu	37	11	4824745	4824746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr11:4824745_4824746insT	ENST00000380382.1	-	1	1101_1102	c.1102_1103insA	c.(1102-1104)gctfs	p.A368fs	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Frame_Shift_Ins_p.A289fs|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGGTTGAGCATGGGAGGTATC	0.475													63	251	---	---	---	---					
DPY19L2	283417	broad.mit.edu	37	12	64055263	64055263	+	Splice_Site	DEL	T	T	-	rs565018		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:64055263delT	ENST00000324472.4	-	4	634		c.e4-2		RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		ATAAAGTCCCTTTTTTTAAAA	0.259													8	168	---	---	---	---					
CFAP54	144535	broad.mit.edu	37	12	97052038	97052063	+	Frame_Shift_Del	DEL	CAGCTTCTGCTGAGAATACAGAAGTT	CAGCTTCTGCTGAGAATACAGAAGTT	-	rs113313001		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr12:97052038_97052063delCAGCTTCTGCTGAGAATACAGAAGTT	ENST00000524981.3	+	5	727_752	c.727_752delCAGCTTCTGCTGAGAATACAGAAGTT	c.(727-753)cfs	p.QLLLRIQKF243fs				Q6ZTY8	CL063_HUMAN		217										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCACAGCGCCAGCTTCTGCTGAGAATACAGAAGTTCAAGGGCCCA	0.394													10	227	---	---	---	---					
DOCK9	23348	broad.mit.edu	37	13	99566606	99566606	+	Frame_Shift_Del	DEL	A	A	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr13:99566606delA	ENST00000376460.1	-	9	1016	c.936delT	c.(934-936)gafs	p.D312fs	DOCK9_ENST00000339416.2_Frame_Shift_Del_p.D313fs|DOCK9_ENST00000448493.2_Frame_Shift_Del_p.D324fs|DOCK9_ENST00000442173.1_Frame_Shift_Del_p.D312fs	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	313					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGGTAGCTATCTAAACCGG	0.383													11	25	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													19	9	---	---	---	---					
KCNG4	93107	broad.mit.edu	37	16	84270538	84270550	+	Frame_Shift_Del	DEL	CTCAGTACGTCCT	CTCAGTACGTCCT	-			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr16:84270538_84270550delCTCAGTACGTCCT	ENST00000568181.1	-	2	662_674	c.542_554delAGGACGTACTGAG	c.(541-555)ggfs	p.EDVLR181fs	KCNG4_ENST00000308251.4_Frame_Shift_Del_p.EDVLR181fs			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	181						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CCTCTGCTGCCTCAGTACGTCCTCCCTGTGCAG	0.685													14	114	---	---	---	---					
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929	by1000genomes	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgt>cg	p.RPLCCQTTCHPSCGMSSCCR85del				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10).			keratin filament		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646													8	191	---	---	---	---					
MYCBPAP	84073	broad.mit.edu	37	17	48604672	48604673	+	Frame_Shift_Ins	INS	-	-	ACCACAG			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:48604672_48604673insACCACAG	ENST00000323776.5	+	15	2485_2486	c.2323_2324insACCACAG	c.(2323-2325)ccafs	p.P775fs	MYCBPAP_ENST00000436259.2_Frame_Shift_Ins_p.P738fs	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	738					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			CCCTGATGAGAACCACAGAGAG	0.574													50	192	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056586	56056587	+	In_Frame_Ins	INS	-	-	TGT			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:56056586_56056587insTGT	ENST00000584396.1	-	5	1125_1126	c.1037_1038insACA	c.(1036-1038)cgt>cACAgt	p.346_346R>HS	VEZF1_ENST00000581208.1_In_Frame_Ins_p.355_355R>HS			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	355	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						AGCTTGTCACAtgttgttgttg	0.475													13	493	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56056604	56056605	+	In_Frame_Ins	INS	-	-	TGC	rs61731354	byFrequency	TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:56056604_56056605insTGC	ENST00000584396.1	-	5	1107_1108	c.1019_1020insGCA	c.(1018-1020)cca>cGCAca	p.340_340P>RT	VEZF1_ENST00000581208.1_In_Frame_Ins_p.349_349P>RT			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	349	Poly-Gln.				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgctgctgctg	0.465													20	413	---	---	---	---					
LRRC37A16P	651250	broad.mit.edu	37	17	66141015	66141016	+	RNA	INS	-	-	A			TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr17:66141015_66141016insA	ENST00000590019.1	-	0	70																											CCAAGATTTCTACAAAAAAAAA	0.322													7	85	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs71769813		TCGA-49-4505-01A-01D-1931-08	TCGA-49-4505-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8592415a-1d24-4501-99ce-280807917c24	58939308-d13a-40fb-8143-e3d66cb94634	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)del	p.Q262del	MED15_ENST00000478831.1_3'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													8	88	---	---	---	---					
