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
FLJ36000	284124	broad.mit.edu	37	17	21904194	21904194	+	RNA	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:21904194C>A	uc002gza.2	+	0		c.133C>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		agcctcaggcctgccaggacg	0.677000													4	70					0	0	1	0	0
C4orf37	285555	broad.mit.edu	37	4	99030364	99030364	+	Silent	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr4:99030364T>C	uc003htt.2	-	3	570	c.480A>G	c.(478-480)ccA>ccG	p.P160P		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	160								p.P160P(2)		cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		CATACTGTCCTGGACCAGGAC	0.333000													3	76					0	0	1	0	0
APBB3	10307	broad.mit.edu	37	5	139939911	139939911	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:139939911T>A	uc021yeh.1	-	11	1570	c.1211A>T	c.(1210-1212)cAg>cTg	p.Q404L	SRA1_uc003lfz.3_5'Flank|SRA1_uc021yef.1_5'Flank|SRA1_uc003lga.3_5'Flank|SRA1_uc010jfm.3_5'Flank|APBB3_uc003lgb.1_Missense_Mutation_p.Q181L|APBB3_uc003lgc.1_Missense_Mutation_p.Q181L|APBB3_uc003lgd.1_Missense_Mutation_p.Q409L|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_Missense_Mutation_p.Q181L|APBB3_uc003lge.1_Missense_Mutation_p.Q402L|APBB3_uc021yeg.1_Missense_Mutation_p.Q411L|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_3'UTR	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	404	PID 2.					actin cytoskeleton|cytoplasm		p.Q411L(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGGCAGCCTGCACAGCTTC	0.617000													3	64					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33767626	33767626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr18:33767626G>T	uc002kzq.4	+	0	147	c.124G>T	c.(124-126)Gag>Tag	p.E42*	BC009735_uc002kzp.3_5'Flank	NM_017947	NP_060417	Q96EN8	MOCOS_HUMAN	Homo sapiens molybdenum cofactor sulfurase (MOCOS), mRNA.	42					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	Mo-molybdopterin cofactor sulfurase activity|lyase activity|molybdenum ion binding|pyridoxal phosphate binding	p.E42*(2)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCGGGCGCGCGAGTTCAGCCG	0.716000													2	5					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90260172	90260172	+	RNA	SNP	A	A	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:90260172A>G	uc010yts.2	+	40		c.5440A>G								Parts of antibodies, mostly variable regions.																		TCTGGGACAGATTTCACTCTC	0.478000													26	170					0	0	1	0	0
PGM3	5238	broad.mit.edu	37	6	83898366	83898366	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:83898366T>A	uc011dyz.2	-	3	609	c.440A>T	c.(439-441)cAa>cTa	p.Q147L	PGM3_uc003pju.2_Missense_Mutation_p.Q119L|PGM3_uc003pjw.3_Missense_Mutation_p.Q38L|PGM3_uc021zcd.1_Missense_Mutation_p.Q119L	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	119					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity	p.Q119L(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		AAAGGCATCTTGTTGCAGATT	0.398000													5	81					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587215	247587215	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:247587215G>A	uc001icr.3	+	4	608	c.470G>A	c.(469-471)cGt>cAt	p.R157H	NLRP3_uc001ics.3_Missense_Mutation_p.R157H|NLRP3_uc001icu.3_Missense_Mutation_p.R157H|NLRP3_uc001icw.3_Missense_Mutation_p.R157H|NLRP3_uc001icv.3_Missense_Mutation_p.R157H|NLRP3_uc010pyw.2_Missense_Mutation_p.R155H|NLRP3_uc001ict.1_Missense_Mutation_p.R155H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	157					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.R157H(4)|p.R157C(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAATGCCCGTCTGGGTGAG	0.522000													5	34					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77710932	77710932	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:77710932C>A	uc002jxa.3	+	3	1139	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	373					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.F373L(10)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCCCTAGCTTCAGGGCGGGCC	0.607000													4	86					0	0	1	0	0
MST1P2	11209	broad.mit.edu	37	1	16974955	16974955	+	RNA	SNP	A	A	G	rs149751487	by1000genomes	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:16974955A>G	uc010och.2	+	6		c.1415A>G			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCATGCTTTGATGTCTGGGAC	0.657000													3	64					0	0	1	0	0
CLDN7	1366	broad.mit.edu	37	17	7163815	7163815	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:7163815A>C	uc002gfm.4	-	3	1416	c.514T>G	c.(514-516)Tct>Gct	p.S172A	CLDN7_uc010cmc.3_Silent_p.G143G|CLDN7_uc002gfn.4_Missense_Mutation_p.S172A	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	172					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity	p.S172A(2)		kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						ACTAGGGCAGACCCTGCCCAG	0.572000													10	19					0	0	1	0	0
ZFP28	140612	broad.mit.edu	37	19	57065989	57065989	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:57065989C>T	uc002qnj.3	+	7	1906	c.1835C>T	c.(1834-1836)aCt>aTt	p.T612I	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	612					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T612I(2)|p.H611Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AGGATTCATACTGGGGAGAAG	0.428000													9	138					0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106787447	106787447	+	Splice_Site	SNP	A	A	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:106787447A>G	uc021ser.1	-	632		c.17599_splice	c.e632-1							Parts of antibodies, mostly variable regions.																		GTCTTTGGAGATGGAGAATCT	0.453000													3	23					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42264696	42264696	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:42264696A>T	uc003bbi.3	+	2	789	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_5'Flank	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	207	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding	p.Q207L(2)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CAGACAGTACAGGCCCAGCGG	0.612000													14	28					0	0	1	0	0
OR6X1	390260	broad.mit.edu	37	11	123624519	123624519	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:123624519G>T	uc010rzy.2	-	0	708	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F236L(2)		breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CACAGGTAGAGAAAGTCTTTT	0.458000													8	85					0	0	1	0	0
SLC24A6	80024	broad.mit.edu	37	12	113748079	113748079	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:113748079A>C	uc001tvc.3	-	11	1427	c.1217T>G	c.(1216-1218)tTt>tGt	p.F406C	SLC24A6_uc001tuz.3_Missense_Mutation_p.F111C|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Missense_Mutation_p.F144C	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	406					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity	p.F406C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTGGCAAAAAAGGTCACTGA	0.587000													5	82					0	0	1	0	0
MED13	9969	broad.mit.edu	37	17	60028344	60028344	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:60028344G>A	uc002izo.3	-	27	6210	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	2045					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.R2045W(4)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATAGTAGCCGATCAGTACTC	0.383000													6	45					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50103128	50103128	+	Silent	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:50103128C>A	uc002poo.4	+	4	4278	c.4278C>A	c.(4276-4278)ccC>ccA	p.P1426P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	605							DNA binding	p.P606P(1)|p.P1426P(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCTTGGCCCCCGCGGCTGCAG	0.667000													3	82					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55595260	55595260	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:55595260G>T	uc001nhy.1	+	0	566	c.566G>T	c.(565-567)tGc>tTc	p.C189F		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C189F(2)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				AGTCTTGCTTGCTCTGATGTC	0.448000										HNSCC(27;0.073)			54	117					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81346562	81346562	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:81346562C>T	uc003uhl.3	-	10	1556	c.1391G>A	c.(1390-1392)tGc>tAc	p.C464Y	HGF_uc003uhm.3_Missense_Mutation_p.C459Y	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	464	Kringle 4.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	p.C464Y(2)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AGAAATAGGGCAATAATCCCA	0.383000													8	72					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	491185	491185	+	Splice_Site	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:491185G>A	uc003mtd.3	-	26	2694	c.2560_splice	c.e26-1	p.A854_splice	EXOC2_uc003mte.3_Splice_Site_p.A854_splice|EXOC2_uc011dho.2_Splice_Site_p.A449_splice	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	854					exocytosis|protein transport			p.A854V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TTCAAGTCTCGCCTGAAAATG	0.393000													28	130					0	0	1	0	0
PHLDB1	23187	broad.mit.edu	37	11	118498442	118498442	+	Silent	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:118498442C>A	uc001ptr.2	+	6	1256	c.903C>A	c.(901-903)tcC>tcA	p.S301S	PHLDB1_uc010ryh.1_Silent_p.S300S|PHLDB1_uc001pts.3_Silent_p.S301S|PHLDB1_uc001ptt.3_Silent_p.S301S|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.S101S|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	301								p.S301S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CCCCACAGTCCCGCCCAAGTG	0.672000													4	73					0	0	1	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	982	982	+	RNA	SNP	G	G	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chrGL000237.1:982G>C	uc011mgu.1	-	1		c.236C>G								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		tggagcagctgggcagacaat	0.552000													9	48					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359193	102359193	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:102359193C>T	uc001vpb.3	+	8	1439	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	ITGBL1_uc010agb.3_Missense_Mutation_p.T358M|ITGBL1_uc001vpc.4_Missense_Mutation_p.T266M	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	407	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.T407M(2)		breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGTAACATGACGGAAGAACAA	0.517000													7	139					0	0	1	0	0
IFT57	55081	broad.mit.edu	37	3	107885800	107885800	+	Silent	SNP	A	A	G	rs143767161		TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:107885800A>G	uc021xcc.1	-	7	1028	c.975T>C	c.(973-975)acT>acC	p.T325T	IFT57_uc003dwx.4_Silent_p.T294T	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	294					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	p.T294T(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CCAAAGTCCTAGTAATTTCAT	0.358000													9	26					0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63679782	63679782	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:63679782G>A	uc011kdn.2	+	3	353	c.353G>A	c.(352-354)tGt>tAt	p.C118Y		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TATGGAAAATGTGGACATGAG	0.343000													7	99					0	0	1	0	0
UIMC1	51720	broad.mit.edu	37	5	176396017	176396017	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:176396017C>A	uc021yil.1	-	5	906	c.739G>T	c.(739-741)Gtc>Ttc	p.V247F	UIMC1_uc021yim.1_Missense_Mutation_p.V247F|UIMC1_uc021yin.1_Missense_Mutation_p.V247F|UIMC1_uc003mfd.2_Intron|UIMC1_uc003mff.1_Intron	NM_016290	NP_057374	Q96RL1	UIMC1_HUMAN	Homo sapiens ubiquitin interaction motif containing 1 (UIMC1), transcript variant 2, mRNA.	247				V -> C (in Ref. 3; AAG59851).	G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	K63-linked polyubiquitin binding|histone binding	p.V247F(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTACCCTGGACAGCTTTGAGA	0.527000													6	145					0	0	1	0	0
FARSB	10056	broad.mit.edu	37	2	223507640	223507640	+	Missense_Mutation	SNP	C	C	T	rs139085353	by1000genomes	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:223507640C>T	uc010zlq.1	-	3	294	c.259G>A	c.(259-261)Gtc>Atc	p.V87I	FARSB_uc002vne.1_Missense_Mutation_p.V67I|FARSB_uc002vnf.1_5'UTR	NM_005687	NP_005678	Q9NSD9	SYFB_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, beta subunit (FARSB), mRNA.	67					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|RNA binding|magnesium ion binding|phenylalanine-tRNA ligase activity	p.V67I(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	24		Renal(207;0.0183)		Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011)	L-Phenylalanine(DB00120)	TTGGCAGGGACGTCAATTTTG	0.388000													13	27					0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31022486	31022486	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:31022486A>T	uc003aip.2	+	8	1511	c.1262A>T	c.(1261-1263)gAg>gTg	p.E421V	TCN2_uc003air.2_Missense_Mutation_p.E394V	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	421					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.E421V(2)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAAACCATTGAGCTGAGGCTG	0.567000													13	50					0	0	1	0	0
TUBB2B	347733	broad.mit.edu	37	6	3226894	3226894	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr6:3226894C>A	uc003mvg.3	-	1	258	c.67G>T	c.(67-69)Gtc>Ttc	p.V23F	AK096219_uc003mvi.1_5'Flank	NM_178012	NP_821080	Q9BVA1	TBB2B_HUMAN	Homo sapiens tubulin, beta 2B class IIb (TUBB2B), mRNA.	23					'de novo' posttranslational protein folding|microtubule-based movement|neuron migration|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.V23F(2)		kidney(2)|large_intestine(5)|lung(1)|prostate(1)|skin(1)	10	Ovarian(93;0.0386)	all_hematologic(90;0.108)				TCACTGATGACCTCCCAAAAC	0.498000													15	158					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20406803	20406803	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:20406803C>A	uc003suu.3	+	2	1087	c.382C>A	c.(382-384)Cgt>Agt	p.R128S	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Missense_Mutation_p.R128S	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	128					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	p.R128S(4)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TATCCAGCTGCGTCCAGGTTT	0.343000													3	80					0	0	1	0	0
HIPK2	28996	broad.mit.edu	37	7	139268747	139268747	+	Silent	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:139268747G>A	uc003vvf.4	-	12	3052	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	HIPK2_uc003vvd.4_Silent_p.S900S	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	927	Interaction with TP53 and TP73.|Required for localization to nuclear speckles (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding	p.S927S(2)|p.Y926H(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TGGAGGAGTCGGAGTAGGGGG	0.547000													4	87					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229666037	229666037	+	Silent	SNP	C	C	T	rs140426197	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:229666037C>T	uc001htp.4	-	7	1597	c.1554G>A	c.(1552-1554)ccG>ccA	p.P518P		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	518	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	p.P518P(2)|p.P518Q(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGATCCTGACGGAATGGAAA	0.507000													11	131					0	0	1	0	0
AGAP9	642517	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:47207813T>C	uc009xnf.2	-	4	508	c.396_splice	c.e4+1	p.H132_splice	AGAP9_uc001jei.3_Splice_Site	NM_001190810	NP_001177739	D3YTF3	D3YTF3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 9 (AGAP9), mRNA.	132					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.H228R(20)									TTTACTTACATGGTTTGTACA	0.294000													7	14					0	0	1	0	0
SBK2	646643	broad.mit.edu	37	19	56041233	56041233	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr19:56041233C>T	uc010ygc.2	-	3	929	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	305	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R305Q(4)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						CAGCAGCCCCCGCAGAAGCGC	0.741000													4	26					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133351742	133351742	+	Silent	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:133351742G>A	uc001ukz.1	-	21	4687	c.4128C>T	c.(4126-4128)cgC>cgT	p.R1376R	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Silent_p.R1376R	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	1376					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	p.R1376R(2)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGGCCGCGCCGCGGCGTAGGT	0.587000													6	57					0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150773232	150773232	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:150773232G>A	uc022apz.1	+	21	4644	c.3604G>A	c.(3604-3606)Gtg>Atg	p.V1202M	SLC4A2_uc003wit.4_Missense_Mutation_p.V1202M|SLC4A2_uc011kve.2_Missense_Mutation_p.V1193M|SLC4A2_uc003wiu.4_Missense_Mutation_p.V1188M|AK296065_uc011kvf.2_Silent_p.H71H	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	1202	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.V1202M(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCTCCGCATGGTGGTGCTCAC	0.627000													6	137					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832500	130832500	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr2:130832500T>C	uc010fmh.2	-	16	2945	c.2545A>G	c.(2545-2547)Act>Gct	p.T849A		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	849	Actin-like.					cell cortex	ATP binding	p.T849A(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ACGATGCCAGTAGTACGGCCA	0.602000													20	188					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93404856	93404856	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:93404856C>T	uc001ybe.2	-	10	1206	c.917G>A	c.(916-918)tGc>tAc	p.C306Y		NM_001142594	NP_001136066	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 3, mRNA.	0	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.C306Y(1)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		TTCTATAAAGCACACTTGGCA	0.527000													4	44					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237870322	237870322	+	Silent	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:237870322C>T	uc001hyl.1	+	67	9774	c.9654C>T	c.(9652-9654)atC>atT	p.I3218I	RYR2_uc010pxz.1_Silent_p.I173I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3218					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	p.I3216I(1)|p.I3218I(1)		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)			TGGAAGAAATCGTGGAATTAG	0.453000													11	153					0	0	1	0	0
IL5RA	3568	broad.mit.edu	37	3	3146666	3146666	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr3:3146666C>A	uc011ask.2	-	3	647	c.3G>T	c.(1-3)atG>atT	p.M1I	IL5RA_uc010hbq.3_Missense_Mutation_p.M1I|IL5RA_uc010hbr.3_Missense_Mutation_p.M1I|IL5RA_uc010hbs.3_Missense_Mutation_p.M1I|IL5RA_uc011asl.2_Missense_Mutation_p.M1I|IL5RA_uc011asm.1_Missense_Mutation_p.M1I|IL5RA_uc010hbt.2_Missense_Mutation_p.M1I|IL5RA_uc011asn.1_Missense_Mutation_p.M1I|IL5RA_uc010hbu.2_Missense_Mutation_p.M1I	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	1					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.M1I(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CCACGATGATCATATCCTACA	0.388000													3	58					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125530493	125530493	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:125530493G>T	uc001lhk.1	-	7	1366	c.1041C>A	c.(1039-1041)agC>agA	p.S347R	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	347					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S347R(2)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGCCCTGGTGGCTTTTTCCAA	0.458000													45	284					0	0	1	0	0
ZNF131	7690	broad.mit.edu	37	5	43139402	43139402	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr5:43139402T>G	uc011cpw.2	+	3	398	c.362T>G	c.(361-363)cTt>cGt	p.L121R	ZNF131_uc010ivl.1_Missense_Mutation_p.L121R|ZNF131_uc003jnj.4_5'UTR|ZNF131_uc003jnk.3_Missense_Mutation_p.L121R|ZNF131_uc003jnn.4_Intron|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Non-coding_Transcript	NM_003432	NP_003423	P52739	ZN131_HUMAN	Homo sapiens zinc finger protein 131 (ZNF131), mRNA.	121						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.L121R(2)		breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						ATCAAAGCCCTTGAAGTCAGG	0.358000													3	67					0	0	1	0	0
ANG	283	broad.mit.edu	37	14	21161988	21161988	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr14:21161988C>T	uc021rok.1	+	0	265	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	ANG_uc001vxw.4_Missense_Mutation_p.H89Y|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.H89Y|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	89					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding	p.H89Y(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TGGAAACCCTCACAGAGAAAA	0.507000													4	65					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10350461	10350461	+	Missense_Mutation	SNP	G	G	A	rs149007526	by1000genomes	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:10350461G>A	uc002gmn.3	-	34	5149	c.5038C>T	c.(5038-5040)Cgc>Tgc	p.R1680C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1680					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1680C(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTAGCTCTGCGCTCAACCATT	0.502000													39	53					0	0	1	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083353	44083353	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr22:44083353A>T	uc003bdy.2	-	10	1454	c.1140T>A	c.(1138-1140)aaT>aaA	p.N380K	EFCAB6_uc003bdz.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzi.2_Missense_Mutation_p.N228K|EFCAB6_uc010gzk.1_Intron|EFCAB6_uc011aqa.2_Intron|EFCAB6_uc003bea.2_Missense_Mutation_p.N377K	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	p.N380K(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTACATACCTATTTCTTTTTG	0.299000													9	31					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	417035	417035	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr12:417035C>A	uc001qif.1	-	22	3878	c.3515G>T	c.(3514-3516)gGg>gTg	p.G1172V		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1172					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G1172V(3)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGCATAAACCCACTGGCTGT	0.463000			T	NUP98	AML								11	137					0	0	1	0	0
GRK1	6011	broad.mit.edu	37	13	114324084	114324084	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr13:114324084C>G	uc010tkf.2	+	1	887	c.782C>G	c.(781-783)gCc>gGc	p.A261G		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	261	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	p.A261G(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GAAACCAAAGCCGACCTCTGT	0.557000													4	154					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28548700	28548700	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr17:28548700T>G	uc002hey.4	-	2	821	c.277A>C	c.(277-279)Att>Ctt	p.I93L		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	93					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.I93L(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GCATAGCCAATCACTGAGAGA	0.562000													10	118					0	0	1	0	0
USP2	9099	broad.mit.edu	37	11	119243942	119243942	+	Silent	SNP	G	G	A			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr11:119243942G>A	uc001pwm.4	-	1	544	c.249C>T	c.(247-249)ccC>ccT	p.P83P	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	83	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity	p.P83P(3)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		CAGTGATGTCGGGTCTCAGCA	0.667000													6	150					0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95326921	95326921	+	Silent	SNP	G	G	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr10:95326921G>T	uc010qnt.2	+	0	500	c.444G>T	c.(442-444)cgG>cgT	p.R148R	O3FAR1_uc010qnu.2_Silent_p.R148R	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	148					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding	p.R148R(2)		breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						GCGGCGTGCGGGGTCCTGGGC	0.701000													4	14					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752697	141752697	+	Silent	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr7:141752697C>T	uc003vwy.3	+	25	3126	c.3072C>T	c.(3070-3072)tcC>tcT	p.S1024S		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1024					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.S1024S(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TAAAGTCTTCCGTTTATGCCA	0.468000													7	112					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30339290	30339290	+	Missense_Mutation	SNP	T	T	G	rs113622445	byFrequency	TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr21:30339290T>G	uc002ymr.2	-	9	1674	c.1661A>C	c.(1660-1662)gAt>gCt	p.D554A	LTN1_uc010gll.1_Non-coding_Transcript	NM_015565	NP_056380	O94822	LTN1_HUMAN	Homo sapiens listerin E3 ubiquitin protein ligase 1 (LTN1), mRNA.	508							ligase activity|zinc ion binding	p.D508A(1)		NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						GGACTCAACATCAGCTTCTGG	0.393000													10	117					0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117582	117582	+	RNA	SNP	C	C	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chrGL000205.1:117582C>T	uc002kgk.4	+	0		c.960C>T								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AAGAGACAGCCGACTCCACCA	0.612000													7	16					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49201966	49201967	+	Frame_Shift_Ins	INS	-	T	T			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:49201966_49201967insT	uc001crx.4	-	4	1096_1097	c.1052_1053insA	c.(1051-1053)aagfs	p.K351fs	AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc010omy.1_Intron|AGBL4_uc001crv.1_Intron|BEND5_uc001crw.4_Frame_Shift_Ins_p.K182fs	NM_024603	NP_078879	Q7L4P6	BEND5_HUMAN	Homo sapiens BEN domain containing 5 (BEND5), mRNA.	351	BEN.									large_intestine(5)|lung(2)|skin(1)	8						CTGCATCTTTCTTTTTTTTTGT	0.460													8	161	---	---	---	---					
TMCC2	9911	broad.mit.edu	37	1	205238670	205238670	+	Frame_Shift_Del	DEL	A	-	-			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr1:205238670delA	uc021pia.1	+	2	1995	c.1340delA	c.(1339-1341)gacfs	p.D447fs	TMCC2_uc010prf.2_Frame_Shift_Del_p.D369fs|TMCC2_uc001hca.3_Frame_Shift_Del_p.D222fs|TMCC2_uc001hcb.2_Frame_Shift_Del_p.D207fs|TMCC2_uc001hcc.2_Frame_Shift_Del_p.D68fs|TMCC2_uc001hcd.3_Frame_Shift_Del_p.D214fs	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	447						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACCTGAAGGACCCCCTGGAA	0.642													7	104	---	---	---	---					
SLC30A4	7782	broad.mit.edu	37	15	45814243	45814246	+	Frame_Shift_Del	DEL	TCTC	-	-			TCGA-G9-6371-01A-11D-1786-08	TCGA-G9-6371-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f65af285-c62e-40df-9f49-f0812e33dcfa	1d2cf02e-fd49-43d8-b55f-b3a799069f5b	g.chr15:45814243_45814246delTCTC	uc001zvj.3	-	1	619_622	c.307_310delGAGA	c.(307-312)gagatafs	p.E103fs	HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	103					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TGCTTCAGTATCTCTCTCTGTTTG	0.475													30	159	---	---	---	---					
