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
GJC2	57165	broad.mit.edu	37	1	228345673	228345673	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:228345673G>A	ENST00000366714.2	+	2	389	c.214G>A	c.(214-216)Gcg>Acg	p.A72T		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	72					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TGACGCCTTCGCGCCCCTGTC	0.657000													6	28					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408850	70408850	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:70408850C>T	ENST00000264434.2	-	3	647	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	C2orf42_ENST00000470096.1_5'UTR|C2orf42_ENST00000420306.1_Missense_Mutation_p.V90M	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	90										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGAGCTCCACAAAGCATCGG	0.522000													8	75					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93467763	93467763	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:93467763G>A	ENST00000394196.4	+	3	1343	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CHD2_ENST00000536619.1_Missense_Mutation_p.R105Q|CHD2_ENST00000420239.2_Missense_Mutation_p.R92Q|CHD2_ENST00000557381.1_Missense_Mutation_p.R92Q	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	92					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGGAACGGATAGCTGAT	0.478000													3	74					0	0	1	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770148	66770148	+	Splice_Site	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr16:66770148C>T	ENST00000258198.2	-	5	736		c.e5-1		DYNC1LI2_ENST00000440564.2_Splice_Site|DYNC1LI2_ENST00000443351.2_Splice_Site|DYNC1LI2_ENST00000379482.2_Splice_Site	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2						transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TCTTTCACAACTGGGGGAAAA	0.393000													17	4					0	0	1	0	0
SESN3	143686	broad.mit.edu	37	11	94924639	94924639	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:94924639G>A	ENST00000536441.1	-	3	607	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000393234.1_Missense_Mutation_p.R91W|SESN3_ENST00000416495.2_Missense_Mutation_p.R91W|SESN3_ENST00000278499.2_Missense_Mutation_p.R13W	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	91					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		AACTGGCTCCGCAAGAAAGAC	0.443000													50	78					0	0	1	0	0
PRKACA	5566	broad.mit.edu	37	19	14204548	14204548	+	Silent	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:14204548C>A	ENST00000308677.4	-	9	1018	c.822G>T	c.(820-822)ctG>ctT	p.L274L	PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.L266L|PRKACA_ENST00000590853.1_Intron	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	274	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTACCTGCAGGAGGTTCC	0.542000													3	66					0.115264	0.119308	1	1	0
ATP6V0A2	23545	broad.mit.edu	37	12	124241431	124241431	+	Missense_Mutation	SNP	T	T	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:124241431T>G	ENST00000330342.3	+	19	2611	c.2363T>G	c.(2362-2364)tTg>tGg	p.L788W	ATP6V0A2_ENST00000544833.1_Missense_Mutation_p.L70W|ATP6V0A2_ENST00000543687.1_3'UTR	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	788					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TATGGCGTCTTGCTACTGCTC	0.552000													9	127					0	0	1	0	0
TBCC	6903	broad.mit.edu	37	6	42713803	42713803	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:42713803G>A	ENST00000244625.2	-	2	572	c.9C>T	c.(7-9)tcC>tcT	p.S3S	TBCC_ENST00000372876.1_Silent_p.S3S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	3					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	p.S3S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			AGCAACTGACGGACTCCATAT	0.617000													19	44					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279833	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547000													3	42					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818																											CACAGCGGCGTGACGAGACTC	0.587000													7	22					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52595833	52595833	+	Splice_Site	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:52595833C>A	ENST00000395489.2	-	8	980		c.e8+1		A1CF_ENST00000373995.3_Splice_Site|A1CF_ENST00000395495.1_Splice_Site|A1CF_ENST00000374001.1_Splice_Site|A1CF_ENST00000373993.1_Splice_Site|A1CF_ENST00000373997.3_Splice_Site|A1CF_ENST00000282641.2_Splice_Site	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGATTGCTAACCTGGTAGCAG	0.463000													29	49					2.75727e-19	3.12844e-19	1	1	0
KIAA1024	23251	broad.mit.edu	37	15	79748639	79748639	+	Silent	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:79748639C>G	ENST00000305428.3	+	2	225	c.150C>G	c.(148-150)ctC>ctG	p.L50L		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	50						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GAAGTGTGCTCTTCTACACAG	0.458000													49	60					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082718	114082718	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:114082718C>T	ENST00000276198.1	+	5	1230	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	HTR2C_ENST00000371951.1_Missense_Mutation_p.R168W|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	168					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTCAATTCGCGGACTAAGGC	0.403000													39	12					0	0	1	0	0
DNM1P34	0	broad.mit.edu	37	15	75594869	75594869	+	RNA	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr15:75594869C>T	ENST00000567292.1	-	0	437																											CATGAGGTCCCACACGGTCTT	0.587000													5	35					0	0	1	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378577	31378577	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:31378577G>A	ENST00000297142.3	-	2	628	c.306C>T	c.(304-306)cgC>cgT	p.R102R		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	102					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						TGTTCCTCTCGCGCGCGTTCG	0.473000													14	137					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11447929	11447929	+	Silent	SNP	G	G	A	rs151261006		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:11447929G>A	ENST00000222120.3	-	2	407	c.147C>T	c.(145-147)ccC>ccT	p.P49P	RAB3D_ENST00000589655.1_Silent_p.P49P	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	49					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TGACGAAGGCGGGAGTGAAGG	0.527000													22	294					0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106723460	106723460	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:106723460G>A	ENST00000333274.6	-	3	712	c.431C>T	c.(430-432)cCa>cTa	p.P144L	EFNA5_ENST00000509503.1_Missense_Mutation_p.P144L|EFNA5_ENST00000510359.1_5'UTR	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	144					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		TCCATTATCTGGGATTGCAGA	0.423000													15	80					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181633	3181633	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:3181633G>A	ENST00000408891.2	-	1	635	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	199					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GTTGGGTGCTGGAGCAGGAGA	0.552000													21	68					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35745662	35745662	+	Missense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:35745662T>A	ENST00000300618.4	+	5	616	c.566T>A	c.(565-567)aTt>aAt	p.I189N	ACACA_ENST00000589665.1_Intron|C17orf78_ENST00000586700.1_Intron|ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	189						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AAAATTCTGATTGCTGTCACC	0.398000													13	12					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696555	169696555	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:169696555T>C	ENST00000333360.7	-	10	1719	c.1580A>G	c.(1579-1581)aAt>aGt	p.N527S	SELE_ENST00000367779.4_Missense_Mutation_p.N401S|SELE_ENST00000367777.1_Missense_Mutation_p.N464S|SELE_ENST00000367781.4_Missense_Mutation_p.N464S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.N464S|SELE_ENST00000367774.1_Missense_Mutation_p.N401S|SELE_ENST00000367780.4_Missense_Mutation_p.N402S|SELE_ENST00000367782.4_Missense_Mutation_p.N464S|SELE_ENST00000367775.1_Missense_Mutation_p.N402S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	527	Sushi 6.				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)					TGCAGAGCCATTGAGCGTCCA	0.552000													6	69					0	0	1	0	0
SAV1	60485	broad.mit.edu	37	14	51132328	51132328	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:51132328G>A	ENST00000324679.4	-	2	467	c.104C>T	c.(103-105)cCt>cTt	p.P35L		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	35					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					GATGAATGAAGGCATAAGATC	0.358000													5	16					0	0	1	0	0
CDC7	8317	broad.mit.edu	37	1	91967356	91967356	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:91967356T>A	ENST00000428239.1	+	2	342	c.83T>A	c.(82-84)tTa>tAa	p.L28*	CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28*|CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	28					cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GAAGGCTCTTTAAAAAAAAAC	0.403000													3	60					0	0	1	0	0
RAC2	5880	broad.mit.edu	37	22	37622732	37622732	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr22:37622732C>T	ENST00000249071.6	-	6	681	c.560G>A	c.(559-561)cGc>cAc	p.R187H	RAC2_ENST00000405484.1_Missense_Mutation_p.R180H|RAC2_ENST00000406508.1_Missense_Mutation_p.R143H	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	187					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTGCAGGCGCGCTTCTGCTG	0.632000													7	15					0	0	1	0	0
PRDM14	63978	broad.mit.edu	37	8	70981761	70981761	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:70981761G>A	ENST00000276594.2	-	2	536	c.335C>T	c.(334-336)cCg>cTg	p.P112L		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CAGGAAGGGCGGCACTTCCCT	0.627000													11	8					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	438989	438989	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:438989C>T	ENST00000264554.6	-	3	580	c.581G>A	c.(580-582)cGg>cAg	p.R194Q		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	194	PID.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGATCCCCGGACGCCAGG	0.677000													9	12					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25572675	25572675	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25572675G>A	ENST00000269141.3	-	9	1711	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	CDH2_ENST00000399380.3_Missense_Mutation_p.R399W	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	430	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGCGAACCGTCCAGTAGGA	0.527000													49	66					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538501	152538501	+	Nonsense_Mutation	SNP	G	G	A	rs140473829		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:152538501G>A	ENST00000368789.1	-	2	239	c.184C>T	c.(184-186)Cga>Tga	p.R62*		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	62					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CGCCGGCATCGGTGGTGGCGC	0.682000													6	62					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1677528	1677528	+	Missense_Mutation	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:1677528A>G	ENST00000252804.4	-	9	955	c.905T>C	c.(904-906)cTg>cCg	p.L302P	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	302	Ig-like C2-type 1.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CTGGATCATCAGGGTCCCATC	0.502000													3	137					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48266917	48266917	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:48266917C>T	ENST00000435803.1	+	6	551	c.527C>T	c.(526-528)cCt>cTt	p.P176L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	176					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CATCAGCAGCCTCATATCTGG	0.433000													14	103					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577566	7577566	+	Missense_Mutation	SNP	T	T	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:7577566T>C	ENST00000420246.2	-	7	847	c.715A>G	c.(715-717)Aac>Gac	p.N239D	TP53_ENST00000359597.4_Missense_Mutation_p.N239D|TP53_ENST00000413465.2_Missense_Mutation_p.N239D|TP53_ENST00000455263.2_Missense_Mutation_p.N239D|TP53_ENST00000445888.2_Missense_Mutation_p.N239D|TP53_ENST00000269305.4_Missense_Mutation_p.N239D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N239D(33)|p.N239fs*25(12)|p.0?(8)|p.N239Y(6)|p.N239fs*1(5)|p.?(5)|p.M237_N239delMCN(4)|p.N239_C242delNSSC(3)|p.N239fs*8(2)|p.N239_S240delNS(2)|p.N239fs*26(1)|p.N146D(1)|p.N146fs*1(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_N239insX(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242del(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)		CAGGAACTGTTACACATGTAG	0.572000		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)			37	43					0	0	1	0	0
OR6C76	390326	broad.mit.edu	37	12	55820867	55820867	+	Missense_Mutation	SNP	C	C	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:55820867C>G	ENST00000328314.3	+	1	830	c.830C>G	c.(829-831)tCt>tGt	p.S277C		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCAATACCTCTGTCGCTCCT	0.378000													22	29					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167266417	167266417	+	Missense_Mutation	SNP	A	A	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:167266417A>T	ENST00000409855.1	-	24	3866	c.3740T>A	c.(3739-3741)gTg>gAg	p.V1247E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1247					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GCTTGTTACCACATCAAAGAT	0.338000													4	2					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289690	62289690	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:62289690T>A	ENST00000378024.4	-	5	12473	c.12199A>T	c.(12199-12201)Aaa>Taa	p.K4067*	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					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)				ATGCTGAATTTGGGCATTTTC	0.493000													31	265					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		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)		atcaaagaaggaaagaagaag	0.423000													3	43					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	407863	407863	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:407863G>A	ENST00000431843.2	-	5	741	c.435C>T	c.(433-435)aaC>aaT	p.N145N	SIGIRR_ENST00000332725.3_Silent_p.N145N|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000397632.3_Silent_p.N145N|SIGIRR_ENST00000531205.1_Silent_p.N145N|SIGIRR_ENST00000382520.2_Silent_p.N145N	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	145					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGCAGCACGTTGAGACGGC	0.687000													19	120					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319343	21319343	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr17:21319343C>T	ENST00000583088.1	+	3	1584	c.689C>T	c.(688-690)gCg>gTg	p.A230V	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A230V	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CATGTGCGCGCGCAGCTCATC	0.637000										Prostate(3;0.18)			4	64					0	0	1	0	0
CDH2	1000	broad.mit.edu	37	18	25583091	25583091	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr18:25583091G>T	ENST00000269141.3	-	7	1313	c.890C>A	c.(889-891)cCc>cAc	p.P297H	CDH2_ENST00000399380.3_Missense_Mutation_p.P266H	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	297	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GAGGGCATTGGGATCGTCAGC	0.458000													4	84					1	1	1	1	0
GCM1	8521	broad.mit.edu	37	6	53010374	53010374	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr6:53010374A>G	ENST00000259803.7	-	2	268	c.57T>C	c.(55-57)aaT>aaC	p.N19N		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	19						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTTTCACATCATTAATATCCC	0.423000													3	112					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420878	105420878	+	Missense_Mutation	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:105420878G>T	ENST00000333244.5	-	7	1029	c.910C>A	c.(910-912)Ctc>Atc	p.L304I		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	304						nucleus		p.L304I(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCACCGTGAGCTGGGCCTCT	0.652000													3	13					0.115264	0.119308	1	1	0
OR51G1	79324	broad.mit.edu	37	11	4945119	4945119	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr11:4945119C>A	ENST00000321961.2	-	1	518	c.451G>T	c.(451-453)Gtg>Ttg	p.V151L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTCTAAGCACTGAGCTTAGC	0.532000													34	35					5.04308e-16	5.61399e-16	1	1	0
BCAT1	586	broad.mit.edu	37	12	25047312	25047312	+	Missense_Mutation	SNP	G	G	A	rs17374285	by1000genomes	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:25047312G>A	ENST00000261192.7	-	3	702	c.176C>T	c.(175-177)aCg>aTg	p.T59M	BCAT1_ENST00000539780.1_Missense_Mutation_p.T59M|BCAT1_ENST00000538118.1_Missense_Mutation_p.T58M|BCAT1_ENST00000342945.5_Missense_Mutation_p.T35M|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.T71M	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	59			T -> M (in dbSNP:rs17374285).		branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CCACTCCACCGTCAGCATATG	0.463000													10	14					0	0	1	0	0
NSDHL	50814	broad.mit.edu	37	X	152037459	152037459	+	Silent	SNP	A	A	G			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chrX:152037459A>G	ENST00000370274.3	+	8	1115	c.921A>G	c.(919-921)ctA>ctG	p.L307L	NSDHL_ENST00000440023.1_Silent_p.L307L	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	307					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CCCTCCTGCTATCCCTGCTGG	0.582000													38	5					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218673380	218673380	+	Missense_Mutation	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr2:218673380C>T	ENST00000171887.4	-	31	5428	c.4976G>A	c.(4975-4977)cGc>cAc	p.R1659H	TNS1_ENST00000430930.1_Missense_Mutation_p.R1638H|TNS1_ENST00000419504.1_Missense_Mutation_p.R1645H	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1659						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGGTAGTGGCGTCTGAAAAA	0.502000													21	105					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905901	129905901	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr10:129905901C>T	ENST00000368654.3	-	13	4578	c.4203G>A	c.(4201-4203)caG>caA	p.Q1401Q	MKI67_ENST00000368653.3_Silent_p.Q1041Q	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1401	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCTCCTTCTGTACGTCCC	0.493000													4	205					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110950	81110950	+	Silent	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:81110950G>T	ENST00000228644.3	+	1	260	c.108G>T	c.(106-108)gtG>gtT	p.V36V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	36					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TGCCGCGAGTGGCTGCCTTCG	0.612000													10	13					0.00829132	0.00889432	1	1	0
HIST2H2BA	0	broad.mit.edu	37	1	120906148	120906148	+	RNA	SNP	G	G	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr1:120906148G>T	ENST00000430394.1	+	0	121					NR_027337.1																						CAGCCGCAAGGAGAGCTACTC	0.582000													73	79					1.16068e-44	1.34275e-44	1	1	0
IRF3	3661	broad.mit.edu	37	19	50162974	50162974	+	Nonsense_Mutation	SNP	G	G	A	rs149842990	byFrequency	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr19:50162974G>A	ENST00000600911.1	-	6	1491	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	IRF3_ENST00000377135.4_Silent_p.S278S|IRF3_ENST00000377139.3_Silent_p.S405S|IRF3_ENST00000597198.1_Silent_p.S405S|IRF3_ENST00000600022.1_Silent_p.S132S|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000596822.1_Nonsense_Mutation_p.R94*|IRF3_ENST00000599144.1_Silent_p.S259S|IRF3_ENST00000598808.1_Silent_p.S259S|IRF3_ENST00000596765.1_Silent_p.S132S|IRF3_ENST00000309877.7_Silent_p.S405S|IRF3_ENST00000601291.1_Nonsense_Mutation_p.R411*|IRF3_ENST00000593922.1_Silent_p.S259S|IRF3_ENST00000599223.1_Silent_p.S278S			Q14653	IRF3_HUMAN	interferon regulatory factor 3	0					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTACTGGTCGGAGGTGAGGG	0.617000													34	50					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35871289	35871289	+	Missense_Mutation	SNP	C	C	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:35871289C>A	ENST00000303115.3	+	4	640	c.511C>A	c.(511-513)Cag>Aag	p.Q171K	IL7R_ENST00000343305.4_Missense_Mutation_p.Q171K|IL7R_ENST00000506850.1_Missense_Mutation_p.Q171K	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	171	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGCTTACCGCCAGGAAAAGGA	0.348000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						5	44					0.00307968	0.00336483	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139890301	139890301	+	Missense_Mutation	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr8:139890301G>A	ENST00000303045.6	-	3	796	c.350C>T	c.(349-351)aCg>aTg	p.T117M	COL22A1_ENST00000435777.1_Missense_Mutation_p.T117M	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	117	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			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)			CGCGTCTCCCGTGTTGGTGTT	0.706000										HNSCC(7;0.00092)			5	4					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121434123	121434123	+	Silent	SNP	C	C	T			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr12:121434123C>T	ENST00000257555.6	+	5	1240	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G	HNF1A_ENST00000544413.1_Silent_p.G338G|HNF1A_ENST00000543427.1_Silent_p.G221G|HNF1A_ENST00000402929.1_Silent_p.G338G|HNF1A_ENST00000400024.2_Silent_p.G338G|HNF1A_ENST00000541395.1_Silent_p.G338G|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	338					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCAGCGGCGGTCCCTTAG	0.622000									Hepatic Adenoma, Familial Clustering of				29	118					0	0	1	0	0
JPH4	84502	broad.mit.edu	37	14	24040359	24040359	+	Silent	SNP	G	G	A			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr14:24040359G>A	ENST00000397118.3	-	6	2483	c.1581C>T	c.(1579-1581)gaC>gaT	p.D527D	JPH4_ENST00000356300.4_Silent_p.D527D|JPH4_ENST00000544177.1_Silent_p.D192D	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	527					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GTGGGGAACCGTCTCTGGGCC	0.667000													72	173					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33602361	33602361	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr3:33602361delT	ENST00000399362.4	-	28	3243	c.2890delA	c.(2890-2892)tgfs	p.M964fs	CLASP2_ENST00000468888.2_Frame_Shift_Del_p.M965fs|CLASP2_ENST00000539981.1_Frame_Shift_Del_p.M734fs|CLASP2_ENST00000461133.3_Frame_Shift_Del_p.M724fs|CLASP2_ENST00000359576.5_Frame_Shift_Del_p.M956fs|CLASP2_ENST00000307312.7_Frame_Shift_Del_p.M446fs|CLASP2_ENST00000480013.1_Frame_Shift_Del_p.M744fs	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	966										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCAGCACCCATTTTTTTTAGT	0.343													7	154	---	---	---	---					
CTC-467M3.1	0	broad.mit.edu	37	5	87980814	87980816	+	RNA	DEL	GAG	GAG	-			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr5:87980814_87980816delGAG	ENST00000510274.1	+	0	46																											ggaggaggaagaggaggaggagg	0.581													7	10	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757																											TCTTCATCCCTCACCCCCCCCC	0.460													2	4	---	---	---	---					
SOX1	6656	broad.mit.edu	37	13	112723111	112723112	+	In_Frame_Ins	INS	-	-	GGGCGT	rs137969745	by1000genomes	TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr13:112723111_112723112insGGGCGT	ENST00000330949.1	+	1	1199_1200	c.1139_1140insGGGCGT	c.(1138-1140)ggg>gGGGCGTgg	p.380_381insAW		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	380					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GGCGCGGGCGCGGGCGTGAACG	0.792													2	4	---	---	---	---					
DLGAP4	22839	broad.mit.edu	37	20	35064517	35064519	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-HI-7171-01A-12D-2114-08	TCGA-HI-7171-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	880022c4-45e7-4c49-92a2-231924b36310	d26a95e2-53bc-4bf8-8b58-3fe3899d106e	g.chr20:35064517_35064519delCGG	ENST00000373913.3	+	4	1485_1487	c.1005_1007delCGG	c.(1003-1008)ccc>cc	p.PG335del	DLGAP4_ENST00000339266.5_In_Frame_Del_p.PG335del|DLGAP4_ENST00000373907.2_In_Frame_Del_p.PG335del|DLGAP4_ENST00000401952.2_In_Frame_Del_p.PG335del			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	335					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCAGGTGCCCGGCGGCGGCGGC	0.704													3	6	---	---	---	---