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
WNT2	7472	broad.mit.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597000													9	29					0	0	0.008291	0	0
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr21:11098863A>G	ENST00000470054.1	-	0	62									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627000													4	18					0	0	0.000602	0	0
CSHL1	1444	broad.mit.edu	37	17	61987091	61987091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	ENST00000259003.10	-	5	607	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E123K|CSHL1_ENST00000438387.2_Missense_Mutation_p.E134K|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.E217K|CSHL1_ENST00000561003.1_3'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	217						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632000													41	65					0	0	0.006999	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	42					0	0	0.001168	0	0
USP53	54532	broad.mit.edu	37	4	120214081	120214081	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	ENST00000450251.1	+	15	3481	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_ENST00000274030.6_Missense_Mutation_p.D979E			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	979					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393000													9	49					0	0	0.004482	0	0
CFP	5199	broad.mit.edu	37	X	47487019	47487019	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	ENST00000247153.3	-	5	666	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_ENST00000377005.2_Missense_Mutation_p.W142L|CFP_ENST00000396992.3_Missense_Mutation_p.W142L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	142	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632000													7	16					0.00198382	0.00296628	0.001984	1	0
SMPD2	6610	broad.mit.edu	37	6	109764076	109764076	+	Missense_Mutation	SNP	C	C	T	rs139839878		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:109764076C>T	ENST00000258052.3	+	7	972	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	205					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCTTGAAACTCGGGACTTCAA	0.542000													10	137					0	0	0.006214	0	0
SPRR2G	0	broad.mit.edu	37	1	153122438	153122438	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	ENST00000368748.4	-	2	187	c.149C>T	c.(148-150)cCa>cTa	p.P50L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	50					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567000													23	111					0	0	0.002780	0	0
FOLH1	2346	broad.mit.edu	37	11	49207240	49207240	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	ENST00000340334.7	-	7	1130	c.762A>G	c.(760-762)acA>acG	p.T254T	FOLH1_ENST00000356696.3_Silent_p.T269T|FOLH1_ENST00000256999.2_Silent_p.T269T|FOLH1_ENST00000533034.1_Silent_p.T254T|FOLH1_ENST00000343844.4_Intron	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	269					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGTAACCTGGTGTGAGAGGGT	0.428000													12	29					0	0	0.001855	0	0
CLSTN1	22883	broad.mit.edu	37	1	9794036	9794036	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	ENST00000377298.4	-	15	3067	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_ENST00000377288.3_Missense_Mutation_p.F740V|CLSTN1_ENST00000361311.4_Missense_Mutation_p.F749V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	759					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612000													16	78					0	0	0.007413	0	0
AP4E1	23431	broad.mit.edu	37	15	51260560	51260560	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	ENST00000261842.5	+	15	2058	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_ENST00000560508.1_Missense_Mutation_p.L576R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	651					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373000													6	14					0	0	0.001984	0	0
FOXP2	93986	broad.mit.edu	37	7	114282537	114282537	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	ENST00000393500.3	+	13	1443	c.623G>A	c.(622-624)gGc>gAc	p.G208D	FOXP2_ENST00000393498.2_Missense_Mutation_p.G262D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G283D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G307D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G191D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G283D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G308D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393494.2_Missense_Mutation_p.G283D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G283D|FOXP2_ENST00000403559.4_Missense_Mutation_p.G300D			O15409	FOXP2_HUMAN	forkhead box P2	283	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428000													33	56					0	0	0.013726	0	0
ADAR	103	broad.mit.edu	37	1	154560602	154560602	+	Splice_Site	SNP	G	G	A	rs151241634	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:154560602G>A	ENST00000368474.4	-	11	3217	c.3019_splice	c.e11+1	p.N1006_splice	ADAR_ENST00000368471.3_Splice_Site_p.N711_splice|ADAR_ENST00000292205.5_Splice_Site_p.N1049_splice	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1006	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATCACTCACCGTTCTCCACCT	0.537000													10	402					0	0	0.008291	0	0
CASC5	57082	broad.mit.edu	37	15	40914116	40914116	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	ENST00000346991.5	+	11	2122	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_ENST00000399668.2_Missense_Mutation_p.S552P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	578	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358000													10	48					0	0	0.010729	0	0
GPR116	221395	broad.mit.edu	37	6	46826760	46826760	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	ENST00000283296.7	-	17	3168	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_ENST00000362015.4_Silent_p.R960R|GPR116_ENST00000265417.7_Silent_p.R960R|GPR116_ENST00000545669.1_Silent_p.R389R|GPR116_ENST00000456426.2_Silent_p.R818R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	960	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478000													16	97					0	0	0.004007	0	0
OBSCN	84033	broad.mit.edu	37	1	228404888	228404888	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	ENST00000570156.2	+	8	2626	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T851M|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T851M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	851	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGTGGGGACGCGGCACCGG	0.652000													14	106					0	0	0.004007	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459855	109459855	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	ENST00000262844.5	-	3	757	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_ENST00000372059.2_Missense_Mutation_p.L160P|AMMECR1_ENST00000372057.1_Missense_Mutation_p.L74P	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	197	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378000													21	95					0	0	0.012319	0	0
DNAH2	146754	broad.mit.edu	37	17	7643864	7643864	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	ENST00000572933.1	+	10	2963	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_ENST00000389173.2_Silent_p.R501R|DNAH2_ENST00000082259.3_Silent_p.R583R|DNAH2_ENST00000570791.1_Silent_p.R583R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672000													17	112					0	0	0.007413	0	0
ZDBF2	57683	broad.mit.edu	37	2	207169761	207169761	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	ENST00000374423.3	+	5	895	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	170							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGGTCAGGCTACAAATAAT	0.423000													10	36					0	0	0.006214	0	0
IRAK3	0	broad.mit.edu	37	12	66638280	66638280	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	ENST00000261233.4	+	9	1323	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_ENST00000457197.2_Missense_Mutation_p.L240S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	301	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393000													16	50					0	0	0.006122	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967757	76967757	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	ENST00000262776.3	-	6	1967	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	553					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S553S(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	43					0	0	0.003330	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676803	37676803	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	ENST00000532828.2	-	5	1887	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ZNF585B_ENST00000312908.5_Missense_Mutation_p.G134R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G491R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383000													16	81					0	0	0.007413	0	0
NT5E	4907	broad.mit.edu	37	6	86203685	86203685	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	ENST00000257770.3	+	9	1737	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_ENST00000369651.3_Missense_Mutation_p.L513P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	563					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353000													12	90					0	0	0.001855	0	0
POLA1	5422	broad.mit.edu	37	X	24830876	24830876	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	ENST00000379068.3	+	29	3235	c.3192G>A	c.(3190-3192)ctG>ctA	p.L1064L	POLA1_ENST00000379059.3_Silent_p.L1058L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1058					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACGCTGCTCTGGTTGTTGAGC	0.393000													20	50					0	0	0.014323	0	0
POLR3D	661	broad.mit.edu	37	8	22107627	22107627	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	ENST00000397802.4	+	7	1176	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_ENST00000306433.4_Missense_Mutation_p.L321M			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	321					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGCTGACCTGACAGAGGG	0.542000													34	51					2.48696e-23	4.15375e-23	0.003271	1	0
LAMA3	3909	broad.mit.edu	37	18	21489195	21489195	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	ENST00000313654.9	+	55	7335	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_ENST00000269217.6_Missense_Mutation_p.N756S|LAMA3_ENST00000587184.1_Missense_Mutation_p.N700S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2309S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2365	Domain II and I.				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			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)	CCCTTGGGAAACATCTCTGAC	0.453000													13	69					0	0	0.013537	0	0
GMDS	2762	broad.mit.edu	37	6	1726688	1726688	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	ENST00000380815.4	-	9	1218	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_ENST00000530927.1_Missense_Mutation_p.V287M	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	317					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507000													30	160					0	0	0.003271	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363000													7	317					0	0	0.004482	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													3	34					0	0	0.004672	0	0
TEKT4P2	0	broad.mit.edu	37	21	9907222	9907222	+	RNA	SNP	T	T	C	rs4023131		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr21:9907222T>C	ENST00000416067.1	-	0	1570					NR_037872.1|NR_038327.1																						ATTTGGGGGATTGGGGGGAAG	0.587000													3	18					0	0	0.001168	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963361	73963361	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	ENST00000373468.1	-	3	1682	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N	KIAA2022_ENST00000055682.5_Missense_Mutation_p.T344N			Q5QGS0	K2022_HUMAN	KIAA2022	344					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGGGCAGGTAGTAAAGAC	0.463000													17	69					1.5739e-10	2.52145e-10	0.004007	1	0
SHROOM3	57619	broad.mit.edu	37	4	77661578	77661578	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	ENST00000296043.6	+	5	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	751					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692000													5	32					0	0	0.001168	0	0
TMEM200A	114801	broad.mit.edu	37	6	130761742	130761742	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	ENST00000392429.1	+	2	2553	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S59P|TMEM200A_ENST00000296978.3_Missense_Mutation_p.S59P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	59						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478000													60	86					0	0	0.014410	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29433858	29433858	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:29433858G>C	ENST00000283351.4	-	22	3722	c.3387C>G	c.(3385-3387)agC>agG	p.S1129R	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S1075R	NM_014939.3	NP_055754.2	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1129					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTGTTTGCTACTACTTG	0.328000													9	36					0	0	0.006214	0	0
S1PR2	9294	broad.mit.edu	37	19	10334891	10334891	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	ENST00000590320.1	-	2	801	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	231					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617000													14	32					0	0	0.002450	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								15	61					0	0	0.004990	0	0
DANCR	0	broad.mit.edu	37	4	53579476	53579476	+	RNA	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:53579476T>G	ENST00000411630.2	+	0	234				SNORA26_ENST00000391286.1_RNA	NR_024031.1																						AAAGTAAGTCTCCATAAAACC	0.418000													28	2965					0	0	0.003080	0	0
ZNF479	90827	broad.mit.edu	37	7	57187713	57187713	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:57187713C>T	ENST00000331162.4	-	5	1679	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGCTTTGCCACATTCTTCACA	0.408000													21	77					0	0	0.003954	0	0
FAM47B	170062	broad.mit.edu	37	X	34962025	34962025	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	ENST00000329357.5	+	1	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	359								p.D359D(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						AGCTGGAAGACGCACGGGCTC	0.537000													20	53					0	0	0.008871	0	0
CLVS1	157807	broad.mit.edu	37	8	62371030	62371030	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	ENST00000519846.1	+	6	1378	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_ENST00000518592.1_Silent_p.S23S|CLVS1_ENST00000325897.4_Silent_p.S302S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	302					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502000													20	51					0	0	0.002780	0	0
APOA1	335	broad.mit.edu	37	11	116707048	116707048	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	ENST00000236850.4	-	4	645	c.280G>A	c.(280-282)Gag>Aag	p.E94K	APOA1_ENST00000375329.2_Missense_Mutation_p.E72K|APOA1_ENST00000359492.2_Missense_Mutation_p.E94K|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.E94K|APOA1_ENST00000375320.1_Missense_Mutation_p.E94K	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	94	10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592000													23	81					0	0	0.012319	0	0
NLRP12	91662	broad.mit.edu	37	19	54299148	54299148	+	Silent	SNP	C	C	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:54299148C>G	ENST00000324134.6	-	9	3231	c.3063G>C	c.(3061-3063)cgG>cgC	p.R1021R	NLRP12_ENST00000351894.4_Silent_p.R909R|NLRP12_ENST00000391773.1_Silent_p.R1022R|NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000391775.3_Silent_p.R964R|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000354278.3_Intron	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1021					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGGCTCAGCCGCTTGCAAA	0.557000													5	38					0	0	0.000602	0	0
FCGBP	8857	broad.mit.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	ENST00000221347.6	-	28	12998	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4331						extracellular region	protein binding	p.A4331T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647000													30	260					0	0	0.010818	0	0
KERA	11081	broad.mit.edu	37	12	91449807	91449807	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	ENST00000266719.3	-	2	499	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	84					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348000													13	73					0	0	0.013537	0	0
RNGTT	8732	broad.mit.edu	37	6	89563379	89563379	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	ENST00000369485.4	-	9	1187	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_ENST00000265607.6_Missense_Mutation_p.R334H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R334H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R274H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	334	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289000													12	90					0	0	0.013537	0	0
BCL11A	53335	broad.mit.edu	37	2	60679728	60679728	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	ENST00000538214.1	-	4	2488	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q	BCL11A_ENST00000537768.1_Silent_p.S437S|BCL11A_ENST00000356842.4_Silent_p.S768S|BCL11A_ENST00000359629.5_Missense_Mutation_p.R235Q			Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557000			T	IGH@	B-CLL								34	105					0	0	0.003755	0	0
AKR1B10	57016	broad.mit.edu	37	7	134212705	134212705	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	ENST00000359579.4	+	1	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	14					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502000													17	78					0	0	0.006122	0	0
USP51	158880	broad.mit.edu	37	X	55514135	55514135	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	ENST00000500968.3	-	2	1320	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438000													14	45					0	0	0.002450	0	0
BSN	8927	broad.mit.edu	37	3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	ENST00000296452.4	+	5	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622000													11	67					0	0	0.008291	0	0
COL5A1	1289	broad.mit.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587000													27	113					0	0	0.007291	0	0
FRAS1	80144	broad.mit.edu	37	4	79400621	79400621	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	ENST00000264895.6	+	56	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2726	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463000													15	39					0	0	0.002450	0	0
PRDM5	11107	broad.mit.edu	37	4	121698363	121698363	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	ENST00000264808.3	-	13	1757	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_ENST00000428209.2_Missense_Mutation_p.V475G|PRDM5_ENST00000515109.1_Missense_Mutation_p.V475G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	506					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383000													32	129					0	0	0.003271	0	0
GPC3	2719	broad.mit.edu	37	X	132887606	132887606	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000394299.2_Missense_Mutation_p.R312I|GPC3_ENST00000543339.1_Missense_Mutation_p.R258I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome				6	144					8.12818e-05	0.00012511	0.001984	1	0
CD244	51744	broad.mit.edu	37	1	160811431	160811431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	ENST00000368034.4	-	2	499	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_ENST00000322302.7_Nonsense_Mutation_p.E108*|CD244_ENST00000368032.2_Nonsense_Mutation_p.E108*|CD244_ENST00000368033.3_Nonsense_Mutation_p.E108*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	108	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453000													22	90					4.26978e-12	6.91088e-12	0.003330	1	0
RS1	6247	broad.mit.edu	37	X	18660177	18660177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	ENST00000379984.3	-	6	662	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	208	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657000													26	63					0	0	0.004656	0	0
EDEM3	80267	broad.mit.edu	37	1	184695449	184695449	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	ENST00000318130.8	-	7	953	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_ENST00000367512.3_Silent_p.A186A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	229					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388000													11	57					0	0	0.003163	0	0
LINC00969	0	broad.mit.edu	37	3	195400788	195400788	+	RNA	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400788G>A	ENST00000445430.1	+	0	1384																											CCGCCTCGGGGCAAACTCGCT	0.602000													3	26					0	0	0.001168	0	0
SP100	6672	broad.mit.edu	37	2	231367785	231367785	+	Silent	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	ENST00000264052.5	+	20	2080	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_ENST00000409112.1_Silent_p.R575R|SP100_ENST00000340126.4_Silent_p.R575R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	575					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289000													18	82					0	0	0.008871	0	0
RYR2	6262	broad.mit.edu	37	1	237804239	237804239	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	ENST00000366574.2	+	47	7475	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K	RYR2_ENST00000542537.1_Missense_Mutation_p.N2370K|RYR2_ENST00000360064.6_Missense_Mutation_p.N2384K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1).		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			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)			ACATGGGGAACGCGATCATGA	0.443000													6	39					0	0	0.003080	0	0
DOCK5	80005	broad.mit.edu	37	8	25154057	25154057	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	ENST00000276440.7	+	7	543	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_ENST00000481100.1_Missense_Mutation_p.D167H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	167						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512000													4	15					0	0	0.009096	0	0
DNAJC7	7266	broad.mit.edu	37	17	40140910	40140910	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	ENST00000457167.4	-	8	994	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_ENST00000426588.3_Missense_Mutation_p.A197V|DNAJC7_ENST00000316603.7_Missense_Mutation_p.A197V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	253					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423000													51	84					0	0	0.014410	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	101					0	0	0.000602	0	0
SERPINB11	89778	broad.mit.edu	37	18	61387343	61387343	+	RNA	SNP	A	A	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	ENST00000544088.1	+	0	634				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAAATAAATTTCAAGTA	0.348000													8	33					0	0	0.004482	0	0
AJAP1	55966	broad.mit.edu	37	1	4832380	4832380	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	ENST00000378191.4	+	4	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_ENST00000378190.3_Missense_Mutation_p.R320W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	320	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607000													10	60					0	0	0.008291	0	0
BSN	8927	broad.mit.edu	37	3	49694614	49694614	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	ENST00000296452.4	+	5	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2542					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632000													14	40					0	0	0.001855	0	0
MYO16	23026	broad.mit.edu	37	13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	ENST00000356711.2	+	2	227	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MYO16_ENST00000357550.2_Missense_Mutation_p.R34H|MYO16_ENST00000251041.5_Missense_Mutation_p.R34H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	34					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R34H(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527000													14	42					0	0	0.001855	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54596855	54596855	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	ENST00000474759.1	+	6	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.W191C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.W97C|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.W191C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	191						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGGTTTATTGGTCTGAATCTC	0.403000													10	38					1.76689e-08	2.74656e-08	0.006214	1	0
GYG2	8908	broad.mit.edu	37	X	2799186	2799186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	ENST00000381163.3	+	12	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_ENST00000542787.1_Missense_Mutation_p.R409C|GYG2_ENST00000338623.5_Missense_Mutation_p.R444C|GYG2_ENST00000398806.3_Missense_Mutation_p.R449C|GYG2_ENST00000381161.1_3'UTR	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	480					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		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)				GGAGGAAGGCCGTATCGACTA	0.572000													7	29					0	0	0.003080	0	0
GPR137B	7107	broad.mit.edu	37	1	236341829	236341829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	ENST00000366592.3	+	3	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478000													58	164					0	0	0.014410	0	0
AC024560.3	0	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488000													4	99					0	0	0.009096	0	0
ANK1	286	broad.mit.edu	37	8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	ENST00000396942.1	-	36	4453	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1457H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522000													25	72					0	0	0.006320	0	0
SELE	6401	broad.mit.edu	37	1	169697059	169697059	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	ENST00000333360.7	-	9	1428	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C367Y|SELE_ENST00000367779.4_Intron|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.C305Y|SELE_ENST00000367782.4_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.C367Y|SELE_ENST00000367780.4_Missense_Mutation_p.C305Y	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GACAGCATCGCATCTCACAGC	0.498000													29	121					0	0	0.010818	0	0
RND3	390	broad.mit.edu	37	2	151326607	151326607	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	ENST00000375734.2	-	5	878	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_ENST00000263895.4_Missense_Mutation_p.S210L|RND3_ENST00000409557.1_Missense_Mutation_p.S81L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	210					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458000													31	108					0	0	0.010818	0	0
RP4-604K5.1	0	broad.mit.edu	37	1	87369113	87369113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	ENST00000331835.5	-	2	356	c.94G>T	c.(94-96)Gag>Tag	p.E32*	RP4-604K5.1_ENST00000370554.1_Nonsense_Mutation_p.E32*|RP4-604K5.1_ENST00000469566.1_5'UTR|RP4-604K5.1_ENST00000401030.3_Nonsense_Mutation_p.E32*	NM_004261.3	NP_004252.2																					GATGAAAACTCTGCCCCAAAA	0.418000													11	19					2.68362e-12	4.38884e-12	0.013537	1	0
SEL1L3	23231	broad.mit.edu	37	4	25849135	25849135	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	ENST00000399878.3	-	2	636	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SEL1L3_ENST00000264868.5_Missense_Mutation_p.I137V|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_Missense_Mutation_p.I19V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	172						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408000													9	65					0	0	0.004482	0	0
TRIT1	54802	broad.mit.edu	37	1	40318536	40318536	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:40318536C>A	ENST00000316891.5	-	4	441	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.G143C|TRIT1_ENST00000441669.2_Missense_Mutation_p.G63C|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	143					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCAGTGCCCATCTCCTGG	0.448000													5	215					0.00116845	0.0017639	0.001168	1	0
OR9G1	390174	broad.mit.edu	37	11	56468417	56468417	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	ENST00000312153.1	+	1	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCCTTGGTGGAGCTGGCCTGT	0.463000													30	112					0	0	0.007291	0	0
PRPS2	5634	broad.mit.edu	37	X	12838861	12838861	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	ENST00000380668.5	+	6	931	c.803C>T	c.(802-804)gCt>gTt	p.A268V	PRPS2_ENST00000398491.2_Missense_Mutation_p.A271V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	268					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483000													19	70					0	0	0.010504	0	0
RXRG	6258	broad.mit.edu	37	1	165398112	165398112	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	ENST00000359842.5	-	2	443	c.141T>G	c.(139-141)gaT>gaG	p.D47E		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCACTGGGGTATCTGTGTAGC	0.607000													5	63					0	0	0.000602	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77401350	77401350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	ENST00000282849.5	-	4	1184	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	256					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						TTCTTGCGTCGTCCACAAAAA	0.443000													18	72					0	0	0.010504	0	0
RIMS1	0	broad.mit.edu	37	6	72889453	72889453	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:72889453C>T	ENST00000264839.7	+	5	647	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RIMS1_ENST00000521978.1_Missense_Mutation_p.S216L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S216L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S216L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S216L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S216L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S216L|RIMS1_ENST00000348717.5_Missense_Mutation_p.S216L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	216					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAGCGATCGCGGTCTCAG	0.597000													5	150					0	0	0.001168	0	0
PCSK2	5126	broad.mit.edu	37	20	17446133	17446133	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	ENST00000262545.2	+	11	1680	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.M420I|PCSK2_ENST00000377899.1_Missense_Mutation_p.M436I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	455					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTGAAAATGGCTAAAGACT	0.567000													7	45					1.26484e-09	2.00586e-09	0.003080	1	0
TUBGCP4	27229	broad.mit.edu	37	15	43695930	43695930	+	Missense_Mutation	SNP	C	C	T	rs149549954	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	ENST00000564079.1	+	16	2021	c.1781C>T	c.(1780-1782)tCg>tTg	p.S594L	TUBGCP4_ENST00000260383.7_Missense_Mutation_p.S595L|TUBGCP4_ENST00000399460.3_3'UTR	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	595					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527000													22	21					0	0	0.003330	0	0
ATP8A2	51761	broad.mit.edu	37	13	26411309	26411309	+	Silent	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	ENST00000381655.2	+	29	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_ENST00000255283.8_Silent_p.T856T|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	881					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498000													52	105					2.83923e-41	4.79311e-41	0.014410	1	0
FAM120C	54954	broad.mit.edu	37	X	54209051	54209051	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	ENST00000375180.2	-	1	637	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_ENST00000477084.1_Missense_Mutation_p.A194V|FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000328235.4_Missense_Mutation_p.A194V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	194										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721000													7	15					0	0	0.001984	0	0
CISH	1154	broad.mit.edu	37	3	50645154	50645154	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	ENST00000443053.2	-	4	939	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	CISH_ENST00000348721.3_Missense_Mutation_p.R221C	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	221	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622000													23	97					0	0	0.003330	0	0
OR5D14	219436	broad.mit.edu	37	11	55563532	55563532	+	Silent	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	ENST00000335605.1	+	1	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502000													34	163					6.05902e-23	1.00133e-22	0.003755	1	0
ACSM1	116285	broad.mit.edu	37	16	20635526	20635526	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	ENST00000219151.4	-	13	1702	c.492C>T	c.(490-492)gcC>gcT	p.A164A	ACSM1_ENST00000307493.4_Silent_p.A513A|ACSM1_ENST00000520010.1_Silent_p.A513A			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	513					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473000													21	69					0	0	0.014323	0	0
HTR1E	3354	broad.mit.edu	37	6	87725427	87725427	+	Silent	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	ENST00000305344.4	+	2	1078	c.375C>A	c.(373-375)acC>acA	p.T125T	HTR1E_ENST00000369584.1_Silent_p.T125T	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	125					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGGCCATCACCAATGCTATTG	0.562000													17	127					1.67942e-08	2.63668e-08	0.006122	1	0
TNXB	7148	broad.mit.edu	37	6	32049264	32049264	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	ENST00000375244.3	-	10	4124	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	TNXB_ENST00000375247.2_Missense_Mutation_p.A1308V			P22105	TENX_HUMAN	tenascin XB	1395	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617000													4	18					0	0	0.000602	0	0
TMCC3	57458	broad.mit.edu	37	12	94975589	94975589	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	ENST00000261226.4	-	2	935	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_ENST00000551457.1_Silent_p.N237N	NM_020698.2	NP_065749.2	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592000													24	93					0	0	0.002780	0	0
CAMTA1	23261	broad.mit.edu	37	1	7796570	7796570	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:7796570C>T	ENST00000303635.7	+	13	3440	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1078V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGGGCTATGCCACCCTAATC	0.592000			T	WWTR1	epitheliod hemangioendothelioma								4	97					0	0	0.000602	0	0
LINC00969	0	broad.mit.edu	37	3	195400814	195400815	+	RNA	INS	-	-	TT			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411																											ACCTGGTTGTCTGGTCAGGCAT	0.574													7	29	---	---	---	---					
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													6	7	---	---	---	---					
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)ttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				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.F808L(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)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	2168	---	---	---	---					
CLOCK	9575	broad.mit.edu	37	4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)del	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													8	603	---	---	---	---					
FAM21B	55747	broad.mit.edu	37	10	47909193	47909194	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr10:47909193_47909194delCC	ENST00000358474.5	+	10	763_764	c.763_764delCC	c.(763-765)cfs	p.P256fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	256					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTATTCACACCCCCCAAGCTG	0.515													2	4	---	---	---	---					
MIR381HG	0	broad.mit.edu	37	14	101514904	101514905	+	RNA	DEL	GT	GT	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr14:101514904_101514905delGT	ENST00000553692.1	+	0	28																											CACCTCTGGGgtgtgtgtgtgt	0.470													2	4	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	ENST00000420246.2	-	8	965	c.833delC	c.(832-834)ctfs	p.P278fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(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)		GTCTCTCCCAGGACAGGCACA	0.552		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)			38	13	---	---	---	---					
EMILIN2	84034	broad.mit.edu	37	18	2891806	2891806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	ENST00000254528.3	+	4	1840	c.1681delC	c.(1681-1683)ctfs	p.P561fs		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	561					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502													23	64	---	---	---	---					
CYTH4	27128	broad.mit.edu	37	22	37705324	37705326	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	ENST00000248901.6	+	9	955_957	c.768_770delCTT	c.(766-771)acc>ac	p.TF256del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	256					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567													45	81	---	---	---	---