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
TRAJ43	0	broad.mit.edu	37	14	22964913	22964913	+	RNA	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:22964913C>T	ENST00000390494.1	+	0	18																											CAATGACATGCGCTTTGGAGC	0.498000													13	91					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56015725	56015725	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:56015725C>T	ENST00000327381.5	+	1	777	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	226						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AACATCGCCGCGGCCAACAGC	0.652000													4	85					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57767498	57767498	+	Missense_Mutation	SNP	C	C	T	rs139591279		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr20:57767498C>T	ENST00000371030.2	+	1	1424	c.1424C>T	c.(1423-1425)aCg>aTg	p.T475M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	475						intracellular	nucleic acid binding|zinc ion binding	p.T475M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TCCACCTGGACGCCCCCAGAC	0.672000													13	96					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573200	41573200	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:41573200C>T	ENST00000263253.7	+	31	6704	c.5485C>T	c.(5485-5487)Cgc>Tgc	p.R1829C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1829					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAAATGCTTCGCAGGAGGAT	0.607000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				12	126					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202861726	202861726	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861726C>T	ENST00000367261.3	-	12	1860	c.1642G>A	c.(1642-1644)Gaa>Aaa	p.E548K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E586K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	548	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTCACGACTTCCCAGCTGTCG	0.478000													9	79					0	0	1	0	0
SCARB1	949	broad.mit.edu	37	12	125299595	125299595	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:125299595C>T	ENST00000339570.5	-	3	546	c.350G>A	c.(349-351)cGc>cAc	p.R117H	SCARB1_ENST00000261693.6_Missense_Mutation_p.R117H|SCARB1_ENST00000541205.1_Missense_Mutation_p.R76H|SCARB1_ENST00000540495.1_Missense_Mutation_p.R80H|SCARB1_ENST00000544327.1_Missense_Mutation_p.R63H|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000415380.2_Missense_Mutation_p.R117H|SCARB1_ENST00000546215.1_Missense_Mutation_p.R117H|SCARB1_ENST00000376788.1_Intron	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	117					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CTGGAAGGTGCGGTACTCGAG	0.612000													4	69					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245336	59245336	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:59245336C>G	ENST00000530162.1	+	1	491	c.434C>G	c.(433-435)aCa>aGa	p.T145R		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T145I(1)|p.T143I(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATTGGGCTCACAGTGGCTGCC	0.517000													14	100					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129458133	129458133	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:129458133G>A	ENST00000355497.5	+	7	942	c.935G>A	c.(934-936)cGc>cAc	p.R312H	LMX1B_ENST00000561065.1_Missense_Mutation_p.R289H|LMX1B_ENST00000425646.2_Missense_Mutation_p.R278H|LMX1B_ENST00000373474.4_Missense_Mutation_p.R301H|LMX1B_ENST00000526117.1_Missense_Mutation_p.R301H	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	278					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CTGTCCAGCCGCATGGAGGGC	0.662000									Nail-Patella Syndrome				9	75					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46801810	46801810	+	Silent	SNP	A	A	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:46801810A>C	ENST00000529230.1	-	20	2413	c.2367T>G	c.(2365-2367)tcT>tcG	p.S789S	CKAP5_ENST00000415402.1_Silent_p.S789S|CKAP5_ENST00000354558.3_Silent_p.S789S|CKAP5_ENST00000312055.5_Silent_p.S789S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	789					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						ACATTCGCAAAGAGGGACCAA	0.423000													10	45					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202861756	202861756	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:202861756C>T	ENST00000367261.3	-	12	1830	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E576K|KLHL12_ENST00000367259.1_3'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	538	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			TCATAACATTCAATGCTACTT	0.483000													7	60					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26366213	26366213	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:26366213G>T	ENST00000522362.2	-	3	953	c.59C>A	c.(58-60)tCa>tAa	p.S20*		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	20					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		aaccatcagtgacttctgctc	0.512000													32	179					3.99451e-17	4.21239e-17	1	1	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													6	58					0	0	1	0	0
OAS2	0	broad.mit.edu	37	12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:113447043C>T	ENST00000392583.2	+	10	2254	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.P683S	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458000													6	280					0	0	1	0	0
MEF2D	4209	broad.mit.edu	37	1	156446862	156446862	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:156446862C>T	ENST00000348159.4	-	7	1277	c.797G>A	c.(796-798)cGc>cAc	p.R266H	MEF2D_ENST00000353795.3_Missense_Mutation_p.R220H|MEF2D_ENST00000464356.1_Intron|MEF2D_ENST00000368240.2_Missense_Mutation_p.R266H|MEF2D_ENST00000340875.5_Missense_Mutation_p.R265H|MEF2D_ENST00000360595.3_Missense_Mutation_p.R266H	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D	266					apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTCGGGCTTGCGGCTGGGGGC	0.617000													4	153					0	0	1	0	0
HELB	92797	broad.mit.edu	37	12	66725028	66725028	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:66725028G>T	ENST00000247815.4	+	12	2824	c.2765G>T	c.(2764-2766)cGa>cTa	p.R922L		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	922					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGCCGCTGCCGAGTGTATGTG	0.532000													4	76					0.000602214	0.00061278	1	1	0
TAF5L	27097	broad.mit.edu	37	1	229738251	229738251	+	Silent	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:229738251G>A	ENST00000366675.3	-	4	751	c.663C>T	c.(661-663)aaC>aaT	p.N221N	TAF5L_ENST00000366676.1_Silent_p.N221N|TAF5L_ENST00000258281.2_Silent_p.N221N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	221					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCCAAACCGTTGTTCTCAC	0.552000													4	104					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T	rs143671051	by1000genomes	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:142168890C>T	ENST00000454561.2	-	0	155																											GGGCTTGGTCCTCCTGGGGAA	0.592000													3	26					0	0	1	0	0
SNRPD3	6634	broad.mit.edu	37	22	24953658	24953658	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:24953658C>T	ENST00000215829.3	+	2	603	c.16C>T	c.(16-18)Ccg>Tcg	p.P6S	SNRPD3_ENST00000402849.1_Missense_Mutation_p.P6S	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	6					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	p.P6S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						TATTGGTGTGCCGATTAAAGT	0.478000													4	120					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63101583	63101583	+	Silent	SNP	G	G	A	rs148159032		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:63101583G>A	ENST00000263991.5	+	11	1688	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	EHBP1_ENST00000405289.1_Silent_p.P367P|EHBP1_ENST00000354487.3_Silent_p.P367P|EHBP1_ENST00000405015.3_Silent_p.P367P|EHBP1_ENST00000431489.1_Silent_p.P367P	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	402						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAAGGCCCCGGCTCCACCAG	0.388000													19	121					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160187426	160187426	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:160187426C>T	ENST00000368073.3	-	14	2184	c.1750G>A	c.(1750-1752)Gac>Aac	p.D584N	DCAF8_ENST00000556710.1_Missense_Mutation_p.D738N|DCAF8_ENST00000326837.2_Missense_Mutation_p.D584N|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000368074.1_Missense_Mutation_p.D584N			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	584						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTCCTCGTCCGATGTGTCT	0.622000													7	72					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13616783	13616783	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr19:13616783C>T	ENST00000360228.5	-	1	255	c.256G>A	c.(256-258)Gtg>Atg	p.V86M	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V86M	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	86					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTTCTCACCACGTTGTCTTCG	0.597000													9	36					0	0	1	0	0
MCC	4163	broad.mit.edu	37	5	112824048	112824048	+	Missense_Mutation	SNP	T	T	C	rs35336557		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:112824048T>C	ENST00000408903.3	-	1	479	c.64A>G	c.(64-66)Agc>Ggc	p.S22G		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	550					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccg	0.736000													4	29					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90083965	90083965	+	Silent	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr5:90083965C>T	ENST00000405460.2	+	68	13827	c.13731C>T	c.(13729-13731)agC>agT	p.S4577S	GPR98_ENST00000425867.2_Silent_p.S238S	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4577	Calx-beta 31.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCCAGTGAGCGGGTTGTTCT	0.433000													4	61					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28327086	28327086	+	Silent	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr21:28327086G>A	ENST00000284987.5	-	2	1330	c.1209C>T	c.(1207-1209)caC>caT	p.H403H		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	403	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	p.H403H(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGAAGGCTGCGTGGAGGCCAT	0.498000													13	78					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95480633	95480633	+	RNA	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:95480633G>A	ENST00000432432.2	-	0	2727					NR_040113.1																						ccagccccttgcaaacattaa	0.388000													3	12					0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113196336	113196336	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:113196336A>G	ENST00000393020.1	+	6	818	c.413A>G	c.(412-414)gAc>gGc	p.D138G	TTC12_ENST00000314756.3_Missense_Mutation_p.D138G|TTC12_ENST00000483239.2_Missense_Mutation_p.D138G|TTC12_ENST00000529221.1_Missense_Mutation_p.D138G			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	138							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AAGCTGAAGGACATGAAAGTG	0.468000													19	98					0	0	1	0	0
HRAS	3265	broad.mit.edu	37	11	533309	533309	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr11:533309G>A	ENST00000417302.1	-	5	687	c.500C>T	c.(499-501)cCg>cTg	p.P167L	HRAS_ENST00000451590.1_Intron|HRAS_ENST00000311189.7_Intron|HRAS_ENST00000397594.1_Missense_Mutation_p.P167L|HRAS_ENST00000397596.2_Intron	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	0	Hypervariable region.				activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	CATGGGTCCCGGGGGGTCCCA	0.721000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			5	51					0	0	1	0	0
TRBV5-4	0	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G	rs140095394	by1000genomes	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:142168862A>G	ENST00000454561.2	-	0	183																											TGGGCCAGGCAGCACTGCACC	0.597000													3	29					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90321394	90321394	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr9:90321394C>G	ENST00000469640.2	+	27	3858	c.3483C>G	c.(3481-3483)caC>caG	p.H1161Q	DAPK1_ENST00000472284.1_Missense_Mutation_p.H1136Q|DAPK1_ENST00000408954.3_Missense_Mutation_p.H1136Q|DAPK1_ENST00000358077.5_Missense_Mutation_p.H1136Q|DAPK1_ENST00000491893.1_Missense_Mutation_p.H1070Q			P53355	DAPK1_HUMAN	death-associated protein kinase 1	1136					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCGTGGAACACCTCACCCCCT	0.612000									Chronic Lymphocytic Leukemia, Familial Clustering of				3	47					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13601210	13601210	+	Silent	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr4:13601210G>A	ENST00000040738.5	-	10	7449	c.7314C>T	c.(7312-7314)tgC>tgT	p.C2438C		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	2438							DNA binding										CTATTTCGGGGCACTCCTTGC	0.498000											OREG0016115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	164					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45126909	45126909	+	RNA	SNP	G	G	T	rs140485473	by1000genomes	TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:45126909G>T	ENST00000575173.1	-	0	418																											ATGGGCCCAAGGAGCATCCAG	0.507000													5	166					5.9392e-07	6.15131e-07	1	1	0
AC008103.5	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	T	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562000													12	18					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151878166	151878166	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr7:151878166G>C	ENST00000355193.2	-	36	6997	c.6779C>G	c.(6778-6780)gCt>gGt	p.A2260G	KMT2C_ENST00000262189.6_Missense_Mutation_p.A2260G					lysine (K)-specific methyltransferase 2C																		GCCAGGTAAAGCTGGTCCTCG	0.517000													19	81					0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24793576	24793576	+	Silent	SNP	C	C	T	rs141339113		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000396747.3_Silent_p.T308T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000418030.2_Silent_p.T615T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567000													10	87					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95480630	95480630	+	RNA	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:95480630C>T	ENST00000432432.2	-	0	2730					NR_040113.1																						gccccagccccttgcaaacat	0.393000													3	12					0	0	1	0	0
AC008103.5	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	A	G			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587000													10	117					0	0	1	0	0
NPEPPS	9520	broad.mit.edu	37	17	45668127	45668127	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr17:45668127G>A	ENST00000322157.4	+	10	1377	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	NPEPPS_ENST00000530173.1_Nonsense_Mutation_p.W376*|NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Nonsense_Mutation_p.W300*	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	380					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TTGCATCCTGGATTGAATATC	0.383000													7	61					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21354950	21354950	+	Silent	SNP	T	T	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr22:21354950T>C	ENST00000215742.4	-	3	537	c.363A>G	c.(361-363)agA>agG	p.R121R	THAP7_ENST00000399133.2_Silent_p.R121R	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	121					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCCTGCATCGTCTGAGCCGGC	0.607000													21	143					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95480631	95480631	+	RNA	SNP	T	T	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:95480631T>C	ENST00000432432.2	-	0	2729					NR_040113.1																						ccccagccccttgcaaacatt	0.393000													3	12					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51855065	51855065	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr12:51855065T>A	ENST00000453097.2	+	9	1308	c.1091T>A	c.(1090-1092)aTg>aAg	p.M364K	SLC4A8_ENST00000535225.2_Missense_Mutation_p.M311K|SLC4A8_ENST00000514353.3_Missense_Mutation_p.M311K|SLC4A8_ENST00000394856.1_Missense_Mutation_p.M311K|SLC4A8_ENST00000358657.3_Missense_Mutation_p.M391K	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	364					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GCCACCATCATGACAGATGAG	0.408000													3	41					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111061227	111061227	+	Silent	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:111061227C>T	ENST00000369771.2	-	1	570	c.183G>A	c.(181-183)acG>acA	p.T61T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	61						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	p.T61T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TGGAGAAGGCCGTCTCATGGT	0.582000													5	118					0	0	1	0	0
RSPH9	221421	broad.mit.edu	37	6	43623376	43623376	+	Silent	SNP	C	C	T			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr6:43623376C>T	ENST00000372165.4	+	3	479	c.426C>T	c.(424-426)ggC>ggT	p.G142G	RSPH9_ENST00000372163.4_Silent_p.G157G	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	157					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton		p.G157G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TCCCCCGAGGCGCCCTCTTCA	0.572000									Kartagener syndrome				36	253					0	0	1	0	0
TMEM52	339456	broad.mit.edu	37	1	1850628	1850636	+	In_Frame_Del	DEL	AGCGGCAGG	AGCGGCAGG	-			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:1850628_1850636delAGCGGCAGG	ENST00000310991.3	-	1	76_84	c.69_77delCCTGCCGCT	c.(67-78)ctg>ct	p.LLPL23del		NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	23						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACCTgcggcagcggcaggagcggcagga	0.766													4	3	---	---	---	---					
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(40-45)cctgct>ccCTGtgct	p.14_15PA>PCA	PCSK9_ENST00000452118.2_In_Frame_Ins_p.14_15PA>PCA	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	14					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													6	5	---	---	---	---					
AC018890.6	0	broad.mit.edu	37	2	175584494	175584494	+	RNA	DEL	T	T	-			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr2:175584494delT	ENST00000442996.1	+	0	217																											TTGCTTCTGATTTTTTTTTTT	0.532											OREG0015078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	4	---	---	---	---					
ATP6V1H	51606	broad.mit.edu	37	8	54754237	54754238	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr8:54754237_54754238insC	ENST00000355221.3	-	2	572_573	c.13_14insG	c.(13-15)tatfs	p.Y5fs	ATP6V1H_ENST00000359530.2_Frame_Shift_Ins_p.Y5fs|ATP6V1H_ENST00000396774.2_Frame_Shift_Ins_p.Y5fs	NM_213619.2	NP_998784.1	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	5					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			ACCTCGGATATCCATTTTGGTC	0.396													15	134	---	---	---	---					
AE000661.37	0	broad.mit.edu	37	14	22892201	22892202	+	RNA	INS	-	-	A			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr14:22892201_22892202insA	ENST00000514473.2	-	0	225				AE000661.37_ENST00000535351.1_RNA|AE000661.37_ENST00000545670.1_RNA|AE000661.37_ENST00000537850.1_RNA|AE000661.37_ENST00000541008.1_RNA																							actaaaaatacaaaaaaaaaaa	0.545													3	6	---	---	---	---					
MON1B	22879	broad.mit.edu	37	16	77228355	77228380	+	Frame_Shift_Del	DEL	CACTTACACGTGCAAGTGTCGCCCGC	CACTTACACGTGCAAGTGTCGCCCGC	-			TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr16:77228355_77228380delCACTTACACGTGCAAGTGTCGCCCGC	ENST00000248248.3	+	4	949_974	c.599_624delCACTTACACGTGCAAGTGTCGCCCGC	c.(598-624)afs	p.TLTRASVAR200fs	MON1B_ENST00000545553.1_Frame_Shift_Del_p.TLTRASVAR54fs|MON1B_ENST00000439557.2_Frame_Shift_Del_p.TLTRASVAR91fs|MON1B_ENST00000320859.6_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	200							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ATCGTGAGCACACTTACACGTGCAAGTGTCGCCCGCATCTTCGCAC	0.611													12	158	---	---	---	---					
POLI	11201	broad.mit.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs140689079		TCGA-HC-7817-01B-11D-A29Q-08	TCGA-HC-7817-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbec5e2a-4b00-4c72-ab57-6594b7901be0	c62fbae9-4356-4b26-8b3f-daf9c77e3a62	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggc>gg	p.GD14del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000406285.3_In_Frame_Del_p.GD14del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	14					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)					8	3	---	---	---	---