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
RP1	6101	broad.mit.edu	37	8	55538977	55538977	+	Silent	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:55538977G>A	ENST00000220676.1	+	4	2683	c.2535G>A	c.(2533-2535)ggG>ggA	p.G845G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	845					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGGCATCTGGGTATTTGAGAG	0.338000													23	109					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:145302714A>G	ENST00000342960.5	+	8	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	384								p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	55					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31682956	31682956	+	Silent	SNP	C	C	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:31682956C>A	ENST00000375483.3	+	10	1395	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	465						cytoplasm|extracellular region	lipid binding										CCCTGATCCCCAAGGTATGTA	0.532000													6	74					5.9392e-07	6.17677e-07	1	1	0
AGER	177	broad.mit.edu	37	6	32150159	32150159	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:32150159G>A	ENST00000375076.4	-	8	930	c.829C>T	c.(829-831)Ccc>Tcc	p.P277S	AGER_ENST00000375065.5_3'UTR|AGER_ENST00000375067.3_Intron|AGER_ENST00000375055.2_Missense_Mutation_p.P277S|AGER_ENST00000438221.2_Missense_Mutation_p.P293S|RNF5_ENST00000427134.2_Intron|AGER_ENST00000375069.3_Missense_Mutation_p.P176S|AGER_ENST00000375070.3_Missense_Mutation_p.P308S	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	277	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						AGGGGCAAGGGCACACCCTGG	0.587000													15	28					0	0	1	0	0
TUBA4A	7277	broad.mit.edu	37	2	220115819	220115819	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:220115819G>C	ENST00000392088.2	-	4	1112	c.557C>G	c.(556-558)gCc>gGc	p.A186G	TUBA4A_ENST00000248437.4_Missense_Mutation_p.A201G|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	201					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCATGAAGGCACAGTCTGA	0.552000													19	100					0	0	1	0	0
NCBP1	4686	broad.mit.edu	37	9	100431229	100431229	+	Silent	SNP	A	A	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr9:100431229A>G	ENST00000375147.3	+	21	2374	c.2118A>G	c.(2116-2118)caA>caG	p.Q706Q		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	706					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				AGAGTGAACAAAAGAATCTTT	0.353000													28	47					0	0	1	0	0
SLC6A15	55117	broad.mit.edu	37	12	85255473	85255473	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:85255473G>A	ENST00000266682.5	-	12	2672	c.2131C>T	c.(2131-2133)Cgg>Tgg	p.R711W	SLC6A15_ENST00000552192.1_Missense_Mutation_p.R604W|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	711					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTCCATACCGTCCATTGGGA	0.413000													41	77					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968987	75968987	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr15:75968987C>T	ENST00000308508.5	-	10	5965	c.5873G>A	c.(5872-5874)cGc>cAc	p.R1958H	CTD-2026K11.1_ENST00000569467.1_RNA	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1958	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CAGTGAGGAGCGCCCCAAAGC	0.662000													4	70					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6061684	6061684	+	Splice_Site	SNP	C	C	T	rs149834874	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:6061684C>T	ENST00000261405.5	-	49	8242	c.7986_splice	c.e49-1	p.R2663_splice		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	2663					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGTCTCATCACGCTGGAAGGA	0.498000													9	10					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296914	62296914	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:62296914C>T	ENST00000378024.4	-	5	5249	c.4975G>A	c.(4975-4977)Gac>Aac	p.D1659N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1659					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AAGTGTAAGTCCACATCGGGC	0.473000													131	172					0	0	1	0	0
IQCF2	389123	broad.mit.edu	37	3	51897229	51897229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:51897229G>A	ENST00000333127.3	+	3	367	c.338G>A	c.(337-339)tGg>tAg	p.W113*	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	113	IQ 2.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTCCGTATGTGGCGTGTCCGC	0.597000													22	33					0	0	1	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179873145	179873145	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:179873145C>T	ENST00000435319.3	+	6	975	c.784C>T	c.(784-786)Cag>Tag	p.Q262*	TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000271583.3_Nonsense_Mutation_p.Q263*	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	262						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						ATCATTTTGGCAGTCATCACA	0.303000													3	37					0	0	1	0	0
DPPA3P2	0	broad.mit.edu	37	14	36840760	36840760	+	RNA	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:36840760G>A	ENST00000557188.1	+	0	391																											GACTATCAACGCTAGTAGCGA	0.488000													9	12					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140720504	140720504	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:140720504G>A	ENST00000394576.2	+	1	1966	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A656T(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTCTCCGCCACTGTCAC	0.701000													33	48					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139629181	139629181	+	Silent	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:139629181G>A	ENST00000303045.6	-	54	4292	c.3846C>T	c.(3844-3846)ggC>ggT	p.G1282G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Silent_p.G1262G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1282	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.G1282G(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CACCAGAATCGCCTGTGTGTC	0.587000										HNSCC(7;0.00092)			5	148					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53044633	53044633	+	Missense_Mutation	SNP	G	G	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:53044633G>T	ENST00000276480.7	-	22	3234	c.2551C>A	c.(2551-2553)Cct>Act	p.P851T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	851						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCATTGAGAGGATTCTCCTTC	0.498000													10	114					0.000673444	0.000686649	1	1	0
PPP1R12C	54776	broad.mit.edu	37	19	55603825	55603825	+	Silent	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr19:55603825G>A	ENST00000263433.3	-	18	2055	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	PPP1R12C_ENST00000376393.2_Silent_p.D617D|PPP1R12C_ENST00000435544.2_Silent_p.D605D	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	680						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		TAAAGCCTCCGTCTGGCTCTT	0.706000													7	5					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2857534	2857534	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:2857534C>T	ENST00000520002.1	-	54	8707	c.8152G>A	c.(8152-8154)Gtg>Atg	p.V2718M	CSMD1_ENST00000602723.1_Missense_Mutation_p.V2660M|CSMD1_ENST00000400186.3_Missense_Mutation_p.V2660M|CSMD1_ENST00000602557.1_Missense_Mutation_p.V2718M|CSMD1_ENST00000542608.1_Missense_Mutation_p.V2659M|CSMD1_ENST00000537824.1_Missense_Mutation_p.V2717M			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2718	Sushi 18.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CATATCCTCACGGAAGTTCCC	0.507000													43	27					0	0	1	0	0
ALPPL2	251	broad.mit.edu	37	2	233271622	233271622	+	Silent	SNP	G	G	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:233271622G>T	ENST00000295453.3	+	1	70	c.18G>T	c.(16-18)gtG>gtT	p.V6V		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	6					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GGCCCTGGGTGCTGCTCCTGC	0.617000													32	39					9.04072e-19	9.59423e-19	1	1	0
GPR97	222487	broad.mit.edu	37	16	57718380	57718380	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:57718380G>A	ENST00000333493.4	+	10	1402	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	GPR97_ENST00000327655.6_Missense_Mutation_p.R204H|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.R294H	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	414					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGGAGAACCGCACCTCTCTG	0.632000													14	10					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90482337	90482337	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:90482337C>T	ENST00000369393.3	-	14	2153	c.2038G>A	c.(2038-2040)Ggg>Agg	p.G680R	MDN1_ENST00000428876.1_Missense_Mutation_p.G680R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	680					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.G680W(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTGCCAGTCCCGGTCTCTCCC	0.498000													3	61					0	0	1	0	0
LGALS7B	653499	broad.mit.edu	37	19	39281377	39281377	+	Silent	SNP	C	C	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr19:39281377C>G	ENST00000314980.4	+	3	160	c.144C>G	c.(142-144)gcC>gcG	p.A48A		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	48	Galectin.				apoptosis|heterophilic cell-cell adhesion	cytoplasm|extracellular space|nucleus	sugar binding										CCGATGCCGCCCTGCATTTCA	0.652000													3	50					0	0	1	0	0
IL6ST	3572	broad.mit.edu	37	5	55264119	55264119	+	Missense_Mutation	SNP	G	G	C			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:55264119G>C	ENST00000381298.2	-	5	788	c.476C>G	c.(475-477)aCt>aGt	p.T159S	IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.T159S|IL6ST_ENST00000536319.1_Missense_Mutation_p.T159S|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381287.4_Missense_Mutation_p.T159S|IL6ST_ENST00000502326.3_Missense_Mutation_p.T159S|IL6ST_ENST00000522633.2_Missense_Mutation_p.T159S|IL6ST_ENST00000336909.5_Missense_Mutation_p.T159S|IL6ST_ENST00000381293.2_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	159	Fibronectin type-III 1.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				AGATTTTAAAGTGAAGTTTGT	0.318000			O		hepatocellular ca								10	11					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17280821	17280821	+	Silent	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:17280821C>T	ENST00000331428.5	-	3	531	c.429G>A	c.(427-429)acG>acA	p.T143T		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	143			T -> M (in dbSNP:rs5748648).			integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TTTCCAGCATCGTGTTTCTCT	0.403000													22	39					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136649	40136649	+	Silent	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:40136649C>T	ENST00000278198.2	-	2	3157	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	LRRC4C_ENST00000528697.1_Silent_p.A398A|LRRC4C_ENST00000527150.1_Silent_p.A398A|LRRC4C_ENST00000530763.1_Silent_p.A398A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	398	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCACTTTGTACGCCCCATGTG	0.463000													64	101					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441301	149441301	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:149441301T>G	ENST00000286301.3	-	12	2029	c.1738A>C	c.(1738-1740)Aac>Cac	p.N580H	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	580					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCAGGTTGTTCCGGGGGAAC	0.577000													8	53					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32586457	32586457	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:32586457T>G	ENST00000345122.3	+	3	4144	c.3829T>G	c.(3829-3831)Ttt>Gtt	p.F1277V	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000433497.1_Missense_Mutation_p.F16V|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.F1276V|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.F1277V	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1277	Rho-GAP.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CATACCACTATTTGTTGAGAA	0.368000													23	45					0	0	1	0	0
GSDMD	79792	broad.mit.edu	37	8	144643207	144643207	+	Silent	SNP	G	G	A	rs145648319		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:144643207G>A	ENST00000526406.1	+	8	1498	c.615G>A	c.(613-615)acG>acA	p.T205T	GSDMD_ENST00000262580.4_Silent_p.T205T|GSDMD_ENST00000533063.1_Silent_p.T253T	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	205										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGAAGAAGACGGTCACCATCC	0.687000													4	108					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43918832	43918832	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:43918832C>G	ENST00000378840.4	+	7	860	c.455C>G	c.(454-456)tCg>tGg	p.S152W	ALKBH3_ENST00000532410.1_Intron|ALKBH3_ENST00000302708.4_Intron			Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	0					DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	GAGCGCCCGTCGCCACCCCAC	0.478000								Direct reversal of damage					24	52					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003558	34003558	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:34003558C>T	ENST00000374181.3	-	8	2498	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M	GRM4_ENST00000535756.1_Missense_Mutation_p.V644M|GRM4_ENST00000374177.3_Missense_Mutation_p.V661M|GRM4_ENST00000544773.1_Missense_Mutation_p.V608M|GRM4_ENST00000538487.1_Missense_Mutation_p.V777M|GRM4_ENST00000545715.1_Missense_Mutation_p.V469M|GRM4_ENST00000455714.2_Missense_Mutation_p.V637M	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	777					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTCTCGGGCACGCCGCGTGTC	0.577000													7	18					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	50					0	0	1	0	0
SNRPA1	6627	broad.mit.edu	37	15	101821982	101821982	+	Missense_Mutation	SNP	T	T	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr15:101821982T>G	ENST00000254193.6	-	9	787	c.715A>C	c.(715-717)Act>Cct	p.T239P		NM_003090.2	NP_003081.2	P09661	RU2A_HUMAN	small nuclear ribonucleoprotein polypeptide A'	239						catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCATCATCAGTGGGCCCTAAA	0.433000													10	27					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52022810	52022810	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:52022810C>T	ENST00000458031.2	+	16	1531	c.1300C>T	c.(1300-1302)Cct>Tct	p.P434S	ACY1_ENST00000494103.1_Missense_Mutation_p.P272S|ACY1_ENST00000476351.1_Missense_Mutation_p.P309S|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.P445S|ACY1_ENST00000476854.1_Missense_Mutation_p.P279S|ACY1_ENST00000404366.2_Missense_Mutation_p.P344S			Q03154	ACY1_HUMAN	aminoacylase 1	344					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	TGAGATCATGCCTGCTGCCAC	0.557000													85	141					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145442111	145442111	+	Silent	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr5:145442111G>A	ENST00000511217.1	+	9	2089	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.A679A			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	679							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAAGCAGCGTCCTTGGGCC	0.597000													22	33					0	0	1	0	0
SNTG1	54212	broad.mit.edu	37	8	51503463	51503463	+	Missense_Mutation	SNP	C	C	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr8:51503463C>A	ENST00000522124.1	+	13	1496	c.835C>A	c.(835-837)Cct>Act	p.P279T	SNTG1_ENST00000518864.1_Missense_Mutation_p.P279T|SNTG1_ENST00000517473.1_Missense_Mutation_p.P279T|SNTG1_ENST00000276467.5_Missense_Mutation_p.P279T	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	279					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGAAACTTTCCTGTAAACCA	0.284000													4	72					0.014758	0.014758	1	1	0
ABCA3	21	broad.mit.edu	37	16	2334347	2334347	+	Silent	SNP	G	G	A	rs140948738		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:2334347G>A	ENST00000301732.5	-	25	4495	c.3795C>T	c.(3793-3795)taC>taT	p.Y1265Y	ABCA3_ENST00000382381.3_Silent_p.Y1207Y	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1265					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGTAGTTCTCGTAGAAACTGC	0.577000													40	47					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62295549	62295549	+	Missense_Mutation	SNP	C	C	T	rs1298288		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:62295549C>T	ENST00000378024.4	-	5	6614	c.6340G>A	c.(6340-6342)Gcc>Acc	p.A2114T	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2114			A -> T (in dbSNP:rs1298288).		nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCTTGGGGGCCTTGAAGTGC	0.507000													5	242					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	48					0	0	1	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077106	19077106	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:19077106C>T	ENST00000329773.2	-	2	931	c.844G>A	c.(844-846)Gtg>Atg	p.V282M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	282					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AAAGAGCCCACGAAGAAGTAA	0.498000													20	39					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2892200	2892200	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr18:2892200C>T	ENST00000254528.3	+	4	2234	c.2075C>T	c.(2074-2076)aCg>aTg	p.T692M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	692					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)		AAGGAATGCACGCAGGGGGTC	0.577000													3	45					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													4	68					0	0	1	0	0
CD200R1	131450	broad.mit.edu	37	3	112647723	112647723	+	Missense_Mutation	SNP	C	C	T			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:112647723C>T	ENST00000471858.1	-	4	872	c.640G>A	c.(640-642)Gtg>Atg	p.V214M	CD200R1_ENST00000295863.4_Missense_Mutation_p.V192M|CD200R1_ENST00000308611.3_Missense_Mutation_p.V237M	NM_170780.2	NP_740750.1	Q8TD46	MO2R1_HUMAN	CD200 receptor 1	214	Ig-like C2-type.				interspecies interaction between organisms|regulation of immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	26						TGGCAGGTCACGGTAGACACA	0.443000													13	37					0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602146	58602146	+	Missense_Mutation	SNP	C	C	G			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:58602146C>G	ENST00000287275.1	-	6	1031	c.641G>C	c.(640-642)tGg>tCg	p.W214S	GLYATL2_ENST00000532258.1_Missense_Mutation_p.W214S	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	214						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CATCACAATCCAAGAGACAAG	0.448000													19	25					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476323	32476323	+	Missense_Mutation	SNP	G	G	A			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:32476323G>A	ENST00000404025.2	-	5	1098	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C	NLRC4_ENST00000402280.1_Missense_Mutation_p.R204C|NLRC4_ENST00000360906.5_Missense_Mutation_p.R204C|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	204	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTGCTGAGACGGAGGAAGAAG	0.527000													5	76					0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34666535	34666537	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr1:34666535_34666537delAGA	ENST00000488417.1	+	3	1292_1294	c.1172_1174delAGA	c.(1171-1176)gag>g	p.EK391del	C1orf94_ENST00000373374.3_In_Frame_Del_p.EK201del	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	201							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCAGCCGAGAAGAACTTGCT	0.586													10	6	---	---	---	---					
AC018737.1	0	broad.mit.edu	37	2	122466739	122466740	+	RNA	INS	-	-	T	rs6733674	by1000genomes	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr2:122466739_122466740insT	ENST00000419902.1	+	0	637					NR_037857.1																						tttttttgttgttttttttttg	0.460													2	4	---	---	---	---					
CELSR3	1951	broad.mit.edu	37	3	48697516	48697526	+	Frame_Shift_Del	DEL	GCATCTGTGAT	GCATCTGTGAT	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr3:48697516_48697526delGCATCTGTGAT	ENST00000544264.1	-	1	2822_2832	c.2542_2552delATCACAGATGC	c.(2542-2553)cfs	p.ITDA848fs	CELSR3_ENST00000164024.4_Frame_Shift_Del_p.ITDA848fs			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	848	Cadherin 5.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGAGTGTTGGCATCTGTGATGTTGATGTGC	0.507													28	79	---	---	---	---					
EYS	346007	broad.mit.edu	37	6	66115212	66115213	+	Frame_Shift_Ins	INS	-	-	A	rs34676630		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr6:66115212_66115213insA	ENST00000503581.1	-	6	1447_1448	c.910_911insT	c.(910-912)gaafs	p.E304fs	EYS_ENST00000370621.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000393380.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370616.2_Frame_Shift_Ins_p.E304fs|EYS_ENST00000370618.3_Frame_Shift_Ins_p.E304fs|EYS_ENST00000342421.5_Frame_Shift_Ins_p.E304fs	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	304					response to stimulus|visual perception	extracellular region	calcium ion binding	p.W304*(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTCTTTTCCAAAAAAGCAGA	0.371													10	126	---	---	---	---					
CD6	923	broad.mit.edu	37	11	60739360	60739367	+	Frame_Shift_Del	DEL	CTGGATTG	CTGGATTG	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:60739360_60739367delCTGGATTG	ENST00000313421.7	+	1	209_216	c.23_30delCTGGATTG	c.(22-30)afs	p.TGL8fs	CD6_ENST00000344028.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000452451.2_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000352009.5_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000346437.4_Frame_Shift_Del_p.TGL8fs|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	8					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						TTCGGGATCACTGGATTGCTGACGGCAG	0.639													5	9	---	---	---	---					
C2CD3	26005	broad.mit.edu	37	11	73811642	73811643	+	Frame_Shift_Ins	INS	-	-	C	rs117535770	byFrequency	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr11:73811642_73811643insC	ENST00000334126.7	-	15	2885_2886	c.2659_2660insG	c.(2659-2661)gcgfs	p.A887fs	C2CD3_ENST00000313663.7_Frame_Shift_Ins_p.A887fs			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	887						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGGGCTCCGCACCTTATTCCAA	0.441													12	21	---	---	---	---					
KMT2D	8085	broad.mit.edu	37	12	49428624	49428633	+	Frame_Shift_Del	DEL	GCCCTGAGCC	GCCCTGAGCC	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr12:49428624_49428633delGCCCTGAGCC	ENST00000301067.7	-	35	10316_10325	c.10317_10326delGGCTCAGGGC	c.(10315-10326)atfs	p.MAQG3439fs		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCCAATGCTGCCCTGAGCCATCACTTTCT	0.524													14	57	---	---	---	---					
IRF2BPL	64207	broad.mit.edu	37	14	77493645	77493647	+	In_Frame_Del	DEL	GCA	GCA	-	rs61991619		TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr14:77493645_77493647delGCA	ENST00000238647.3	-	1	1387_1389	c.489_491delTGC	c.(487-492)gcg>gc	p.AA163del		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.					nucleus		p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CTGTTCCACCgcagcggcggcgg	0.744													2	4	---	---	---	---					
PKD1	5310	broad.mit.edu	37	16	2149944	2149944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:2149944delC	ENST00000262304.4	-	29	10049	c.9841delG	c.(9841-9843)ccfs	p.A3281fs	PKD1_ENST00000423118.1_Frame_Shift_Del_p.A3281fs	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3281					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CAGCAGGTGGCCCTCTGGATG	0.637													2	4	---	---	---	---					
RP11-1166P10.6	0	broad.mit.edu	37	16	32077916	32077917	+	RNA	INS	-	-	TTT	rs139112308	by1000genomes	TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr16:32077916_32077917insTTT	ENST00000566806.1	-	0	499																											ATGGAAAACGGTTATTTTTTTG	0.421													3	3	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7578222	7578223	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr17:7578222_7578223delTC	ENST00000420246.2	-	6	758_759	c.626_627delGA	c.(625-627)afs	p.R209fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.R209fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.R209fs|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	209	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> I (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> T (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.R209fs*6(38)|p.0?(8)|p.R209K(7)|p.?(5)|p.R209T(3)|p.R77fs*6(2)|p.R209fs*35(2)|p.D207fs*6(2)|p.R209fs*38(2)|p.R116fs*6(2)|p.R77K(1)|p.R116K(1)|p.E204_N210delEYLDDRN(1)|p.R209fs*36(1)|p.D207_R213delDDRNTFR(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.R209S(1)|p.R209I(1)|p.R209_R213delRNTFR(1)|p.D207_V216del10(1)|p.R209fs*5(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)		GAAAAGTGTTTCTGTCATCCAA	0.535		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)			17	10	---	---	---	---					
RP11-178C3.2	0	broad.mit.edu	37	17	58050857	58050857	+	RNA	DEL	G	G	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr17:58050857delG	ENST00000586209.1	+	0	158																											TTTTTTTTTTGGCAGTTTTTA	0.423													4	9	---	---	---	---					
CDC25B	994	broad.mit.edu	37	20	3781733	3781735	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr20:3781733_3781735delACC	ENST00000245960.5	+	7	1395_1397	c.698_700delACC	c.(697-702)gtg>g	p.DL233del	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_In_Frame_Del_p.DL169del|CDC25B_ENST00000340833.4_In_Frame_Del_p.DL192del|CDC25B_ENST00000439880.2_In_Frame_Del_p.DL219del|CDC25B_ENST00000344256.6_In_Frame_Del_p.DL169del	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	233					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TCGGCCCCCGACCTGATGGTACA	0.650													13	30	---	---	---	---					
MYO18B	84700	broad.mit.edu	37	22	26222374	26222374	+	Splice_Site	DEL	A	A	-			TCGA-V1-A9ZI-01A-11D-A41K-08	TCGA-V1-A9ZI-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	462042a6-0a40-476a-9ccd-aa55722888da	6162f308-9e45-4bf7-a192-64a636bd36bd	g.chr22:26222374delA	ENST00000335473.7	+	14	2945		c.e14-1		MYO18B_ENST00000407587.2_Splice_Site|MYO18B_ENST00000536101.1_Splice_Site	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB							nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCTCTTTCCCAGGGCTCAAGA	0.537													44	33	---	---	---	---					
