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
MXRA5	25878	broad.mit.edu	37	X	3241681	3241681	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532000													24	18					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	ENST00000589042.1	-	69	20402	c.20178G>C	c.(20176-20178)caG>caC	p.Q6726H	TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6409H|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448000													21	60					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													5	39					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	ENST00000330714.3	+	3	470	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	96					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627000													27	76					0	0	1	0	0
RSPO4	343637	broad.mit.edu	37	20	944643	944643	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	ENST00000217260.4	-	4	626	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672000													8	79					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	ENST00000334186.4	+	24	3339	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	997	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582000													19	15					0	0	1	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	ENST00000025008.5	-	15	3353	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	944					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323000													19	39					0	0	1	0	0
CANT1	124583	broad.mit.edu	37	17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:76993313T>C	ENST00000302345.2	-	2	886	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_ENST00000392446.5_Missense_Mutation_p.K131R|CANT1_ENST00000591773.1_Missense_Mutation_p.K131R	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577000			T	ETV4	prostate								4	370					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	ENST00000572681.2	+	11	5265	c.5197C>T	c.(5197-5199)Cag>Tag	p.Q1733*	CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q824*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGAATCACCCAGGTACAGTA	0.692000			"""Mis, F, S"""		oligodendroglioma								4	16					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	ENST00000366574.2	+	22	2834	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	839					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCCGAGAGTACAAGCAAG	0.507000													16	69					2.35188e-11	2.66781e-11	1	1	0
TTN	7273	broad.mit.edu	37	2	179455636	179455636	+	Silent	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	ENST00000589042.1	-	304	61040	c.60816G>A	c.(60814-60816)ccG>ccA	p.P20272P	TTN_ENST00000342992.6_Silent_p.P17704P|TTN_ENST00000359218.5_Silent_p.P11332P|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.P18631P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18631	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458000													46	103					0	0	1	0	0
PAFAH2	5051	broad.mit.edu	37	1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	ENST00000374282.3	-	5	537	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	120					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522000													17	5					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	ENST00000446378.2	+	2	2436	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	802						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443000													32	71					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48556330	48556330	+	Silent	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	ENST00000435803.1	+	52	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_ENST00000544596.1_Silent_p.T280T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4550					transport	integral to membrane	ATP binding|ATPase activity	p.T4495T(1)|p.T4550T(1)		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						GATATGCAACTCTTCCATGGA	0.378000													5	228					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57487218	57487218	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	ENST00000300131.3	+	6	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGACGCCGCCCCCTGCTG	0.657000													3	14					0	0	1	0	0
CCDC15	80071	broad.mit.edu	37	11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	rs112861775		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:124857585C>A	ENST00000529051.1	+	8	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H	CCDC15_ENST00000344762.5_Missense_Mutation_p.P488H			Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403000													4	189					0.150653	0.150653	1	1	0
SRRM4	84530	broad.mit.edu	37	12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	ENST00000267260.4	+	9	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	274	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAGCCAGCCCGCTCACCACC	0.612000													4	8					0	0	1	0	0
GPR85	0	broad.mit.edu	37	7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	ENST00000501255.2	-	3	1521	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_ENST00000297146.2_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A	NM_001146265.1|NM_001146266.1|NM_018970.6	NP_001139737.1|NP_001139738.1|NP_061843.3	P60893	GPR85_HUMAN	G protein-coupled receptor 85	300						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458000													3	88					0	0	1	0	0
DCAF17	80067	broad.mit.edu	37	2	172337525	172337525	+	Silent	SNP	A	A	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	ENST00000375255.3	+	14	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	488						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398000													6	142					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	78					0	0	1	0	0
SHPRH	257218	broad.mit.edu	37	6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	ENST00000367503.3	-	4	1254	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000367505.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	286					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468000													62	147					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	ENST00000306312.3	-	17	2044	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	595	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448000													13	115					0	0	1	0	0
TMEM19	55266	broad.mit.edu	37	12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	ENST00000266673.5	+	6	1475	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	294						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413000													8	196					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	ENST00000370053.1	-	4	415	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	112					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692000													6	25					0	0	1	0	0
DMRT3	58524	broad.mit.edu	37	9	977181	977181	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	ENST00000190165.2	+	1	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	60					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667000													4	41					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20643888	20643888	+	RNA	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:20643888T>C	ENST00000428453.1	-	0	3571																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGTCCGCATGTCAGAGAACTG	0.498000													48	161					0	0	1	0	0
STX11	8676	broad.mit.edu	37	6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	ENST00000367568.4	+	2	364	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	61				D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612000									Familial Hemophagocytic Lymphohistiocytosis				9	21					0	0	1	0	0
CAPNS1	826	broad.mit.edu	37	19	36631958	36631958	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000587718.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000588815.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736000													3	17					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	ENST00000271227.6	+	8	964	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|RP11-465K1.2_ENST00000422162.1_RNA|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448000													12	68					0	0	1	0	0
ZC3H14	79882	broad.mit.edu	37	14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	ENST00000251038.5	+	9	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	397						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388000													43	62					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	ENST00000361835.3	-	3	339	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	61	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502000													29	68					0	0	1	0	0
ANKRD18DP	0	broad.mit.edu	37	3	197803880	197803880	+	RNA	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:197803880C>T	ENST00000435620.2	-	0	474					NR_003291.1																						TGGCAATATACAGCCTGTCAG	0.368000													3	34					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	ENST00000446524.1	+	1	795	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413000													13	141					4.3838e-07	4.89954e-07	1	1	0
CEP97	79598	broad.mit.edu	37	3	101446274	101446274	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	ENST00000341893.3	+	3	986	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_ENST00000327230.4_Silent_p.K78K|CEP97_ENST00000494050.1_Silent_p.K78K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	78						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373000													5	160					0	0	1	0	0
ATRAID	51374	broad.mit.edu	37	2	27438348	27438348	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27438348G>A	ENST00000380171.3	+	4	642	c.465G>A	c.(463-465)ctG>ctA	p.L155L	ATRAID_ENST00000606999.1_Silent_p.L100L|ATRAID_ENST00000405489.3_Silent_p.L42L	NM_080592.3	NP_542159.3			all-trans retinoic acid-induced differentiation factor																		GCAGAGACCTGCAAGCAAACC	0.468000													44	78					0	0	1	0	0
UCN2	90226	broad.mit.edu	37	3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	ENST00000273610.3	-	2	173	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632000													3	19					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								48	69					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													5	39					0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156845863	156845863	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:156845863C>T	ENST00000358660.3	+	12	1525	c.1483_splice	c.e12-1	p.S495_splice	NTRK1_ENST00000524377.1_Intron|NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000392302.2_Intron			P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	501					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCTGCAAGCCCCCTCAGGT	0.637000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			39	108					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													4	114					0	0	1	0	0
F13A1	2162	broad.mit.edu	37	6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	ENST00000264870.3	-	4	780	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458000													64	118					0	0	1	0	0
CACHD1	57685	broad.mit.edu	37	1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	ENST00000371073.2	+	20	2837	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	946	Cys-rich.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCGACTCTCTTGCCTTCTGT	0.478000											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	1	0	0
TMBIM4	51643	broad.mit.edu	37	12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	ENST00000358230.3	-	7	768	c.648C>A	c.(646-648)agC>agA	p.S216R	TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	216						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413000													4	129					0.00198382	0.00206534	1	1	0
COG5	0	broad.mit.edu	37	7	106851543	106851543	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	ENST00000393603.2	-	20	2660		c.e20+1		COG5_ENST00000347053.3_Splice_Site|COG5_ENST00000297135.3_Splice_Site	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTATTTATTACCTGGAAAGGA	0.468000													28	67					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43622043	43622043	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	ENST00000355710.3	+	19	3292	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_ENST00000340058.5_Silent_p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1020					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCTTGCGGCGTCCACTCCAT	0.552000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				176	240					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	ENST00000297267.9	+	2	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	48	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453000													60	144					0	0	1	0	0
TRIM54	57159	broad.mit.edu	37	2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	ENST00000296098.4	+	1	430	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592000													112	191					0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	ENST00000536262.2	-	10	1766	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	403					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443000													63	168					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	ENST00000346562.2	+	11	2080	c.2006G>A	c.(2005-2007)gGt>gAt	p.G669D	NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D|NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G701D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.746000													3	54					0	0	1	0	0
RS1	6247	broad.mit.edu	37	X	18665417	18665417	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	ENST00000379984.3	-	4	260	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	74	F5/8 type C.		G -> V (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507000													15	46					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79470843	79470843	+	Silent	SNP	G	G	C			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	ENST00000370742.3	-	2	147	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	28	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343000													49	17					0	0	1	0	0
SF3B14	0	broad.mit.edu	37	2	24299092	24299092	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:24299092A>T	ENST00000233468.4	-	1	221	c.8T>A	c.(7-9)aTg>aAg	p.M3K		NM_016047.3	NP_057131.1	Q9Y3B4	PM14_HUMAN		3					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCTTGCATCGCCATCTT	0.567000													61	142					0	0	1	0	0
NT5DC2	64943	broad.mit.edu	37	3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	ENST00000307076.4	-	9	1263	c.863G>T	c.(862-864)cGc>cTc	p.R288L	NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	288							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627000													3	80					0.150653	0.150653	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	ENST00000333244.5	-	7	12102	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						nucleus				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)			ACCTTTGGCGCGGTCACATCC	0.612000													118	198					0	0	1	0	0
PCDHGA2	0	broad.mit.edu	37	5	140718979	140718979	+	Silent	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	ENST00000394576.2	+	1	441	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														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)			AAACCACTACGCCAGGATTCC	0.458000													5	112					0.0293803	0.0301744	1	1	0
SOAT1	6646	broad.mit.edu	37	1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	ENST00000367619.3	+	12	1271	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M|SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	376					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348000													6	65					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	ENST00000306312.3	-	17	2028	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	589	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448000													18	150					1.64113e-05	1.7818e-05	1	1	0
KCND2	3751	broad.mit.edu	37	7	119914854	119914854	+	Silent	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	ENST00000331113.4	+	1	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	56					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGACGTGGCAGGACACCCTGG	0.567000													10	232					0	0	1	0	0
FAM86C2P	0	broad.mit.edu	37	11	67560630	67560630	+	RNA	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:67560630A>G	ENST00000528089.1	-	0	1120																											GAGTGACTTGATTCTCACAAT	0.428000													3	101					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	ENST00000360716.3	+	4	487	c.266C>G	c.(265-267)cCc>cGc	p.P89R	RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R|CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	89						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577000													43	227					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45000951	45000951	+	Splice_Site	SNP	C	C	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	ENST00000429094.2	-	15	2168		c.e15+1		NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000452445.2_Splice_Site|NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000395487.2_Splice_Site|NELL2_ENST00000549027.1_Splice_Site	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408000													5	41					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	ENST00000367097.3	+	8	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	455					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617000													3	65					0	0	1	0	0
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR	NM_001037675.2	NP_001032764.1			neuroblastoma breakpoint family, member 9									p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423000													7	200					0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126164132	126164132	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:126164132G>A	ENST00000373620.3	-	21	1857	c.1637C>T	c.(1636-1638)gCg>gTg	p.A546V	DENND1A_ENST00000394219.3_Intron|DENND1A_ENST00000373624.2_Intron|DENND1A_ENST00000394215.2_Missense_Mutation_p.A516V|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000473039.1_Intron	NM_024820.2	NP_079096.2	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	0						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GAACTTGGCCGCAAAATGGGT	0.483000											OREG0019470	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	170					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	ENST00000359759.4	+	33	4006	c.3985G>T	c.(3985-3987)Gac>Tac	p.D1329Y	COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y|COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1329	Triple-helical region 8 (COL8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.706000													3	32					0.000602214	0.000644624	1	1	0
LOXL2	4017	broad.mit.edu	37	8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	ENST00000389131.3	-	10	2065	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657000													3	68					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													3	75					0	0	1	0	0
SLC7A9	11136	broad.mit.edu	37	19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	ENST00000023064.4	-	10	1213	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	341					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562000													21	30					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78432569	78432570	+	Splice_Site	INS	-	-	G			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	ENST00000370767.1	-	6	500_501	c.415_splice	c.e6+1	p.R138_splice	FUBP1_ENST00000436586.2_Splice_Site_p.R159_splice|FUBP1_ENST00000370768.2_Splice_Site_p.R138_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	138	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"""F, N"""		oligodendroglioma								30	42	---	---	---	---					
BNIP1	662	broad.mit.edu	37	5	172578611	172578611	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:172578611delT	ENST00000231668.9	+	3	324	c.220delT	c.(220-222)ttfs	p.F76fs	BNIP1_ENST00000393770.4_Intron|BNIP1_ENST00000352523.6_Frame_Shift_Del_p.F76fs|BNIP1_ENST00000351486.5_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TGCTTCCACATTTTTTTTTAA	0.348													7	97	---	---	---	---					
MSH5-SAPCD1	0	broad.mit.edu	37	6	31708253	31708253	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:31708253delT	ENST00000493662.2	+	2	66	c.10delT	c.(10-12)tafs	p.L4fs	MSH5_ENST00000375755.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000482280.1_3'UTR|MSH5_ENST00000375740.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375703.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000534153.4_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375742.3_Frame_Shift_Del_p.L4fs|MSH5_ENST00000375750.3_Frame_Shift_Del_p.L4fs																							CATGGCCTCCTTAGGAGCGAA	0.682													2	4	---	---	---	---					
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													2	4	---	---	---	---					
ASB6	140459	broad.mit.edu	37	9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	ENST00000277458.4	-	4	577_578	c.412_413delAG	c.(412-414)tfs	p.S139fs	ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	139					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624													25	54	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acfs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_003201.1	NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													7	72	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	-	A	rs56022003		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:89106662_89106663insA	ENST00000535633.1	-	12	1313		c.e12-2		NOX4_ENST00000527626.1_Splice_Site|NOX4_ENST00000263317.4_Splice_Site|NOX4_ENST00000534731.1_Splice_Site|NOX4_ENST00000531342.1_Splice_Site|NOX4_ENST00000413594.2_Splice_Site|NOX4_ENST00000424319.1_Splice_Site|NOX4_ENST00000542487.1_Splice_Site|NOX4_ENST00000343727.5_Splice_Site|NOX4_ENST00000375979.3_Splice_Site|NOX4_ENST00000528341.1_Splice_Site|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000532825.1_Splice_Site|NOX4_ENST00000527956.1_Splice_Site	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.?(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													9	168	---	---	---	---					
SLCO3A1	28232	broad.mit.edu	37	15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T	rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	ENST00000318445.6	+	5	1324_1325	c.1110_1111insT	c.(1108-1113)gcttttfs	p.AF370fs	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.AF370fs	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	370					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCTTCGCTGCCTTTTTGGGGAA	0.584													47	358	---	---	---	---					
APPBP2	10513	broad.mit.edu	37	17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	ENST00000083182.3	-	3	644	c.357delC	c.(355-357)gcfs	p.A119fs		NM_006380.2	NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	119					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403													32	78	---	---	---	---					
IGLL1	3543	broad.mit.edu	37	22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	ENST00000330377.2	-	1	202_204	c.85_87delCTG	c.(85-87)del	p.L29del	IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	29					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719													3	4	---	---	---	---