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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TGM4	7047	broad.mit.edu	37	3	44926858	44926858	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:44926858G>T	uc003coc.4	+	1	134	c.61G>T	c.(61-63)Gcc>Tcc	p.A21S	TGM4_uc003coa.2_Missense_Mutation_p.A21S|TGM4_uc003cob.2_Non-coding_Transcript	NM_003241	NP_003232	P49221	TGM4_HUMAN	Homo sapiens transglutaminase 4 (prostate) (TGM4), mRNA.	21					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCAGGACAACGCCGTTTCTCA	0.522000														28			12		3.07112e-06	3.09714e-06	1	1	0
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr22:21829555T>G	uc002zuv.4	-	13	3847	c.1588A>C	c.(1588-1590)Atc>Ctc	p.I530L	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.									p.I530L(8)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000														10			3		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151109386	151109386	+	Silent	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:151109386C>T	uc001ewv.3	-	10	1257	c.921G>A	c.(919-921)gtG>gtA	p.V307V	SEMA6C_uc001ewu.3_Silent_p.V307V|SEMA6C_uc001eww.3_Silent_p.V267V|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	307	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CATGCAGGTTCACAGGCCCAG	0.542000														104			46		0	0	1	0	0
TXNL4B	54957	broad.mit.edu	37	16	72120699	72120699	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:72120699G>T	uc002fca.3	-	3	598	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	TXNL4B_uc010cgl.2_Intron|TXNL4B_uc010vmn.2_Missense_Mutation_p.S96Y|TXNL4B_uc010vmo.2_Missense_Mutation_p.S96Y	NM_017853	NP_060323	Q9NX01	TXN4B_HUMAN	Homo sapiens thioredoxin-like 4B (TXNL4B), transcript variant 1, mRNA.	96					RNA splicing|mRNA processing|mitosis	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GTGATCTGGAGATCTAGACAG	0.358000														33			24		1.36565e-18	1.56261e-18	1	1	0
GTSF1	121355	broad.mit.edu	37	12	54856511	54856511	+	Splice_Site	SNP	T	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:54856511T>A	uc001sgb.3	-	5	331	c.245_splice	c.e5-1	p.V82_splice		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	82							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				TTTGGTTGACTGCAAGACAAT	0.483000														113			44		0	0	1	0	0
IMMP1L	196294	broad.mit.edu	37	11	31482191	31482191	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:31482191T>C	uc001msy.1	-	3	372	c.176A>G	c.(175-177)cAt>cGt	p.H59R	IMMP1L_uc001msz.1_Missense_Mutation_p.H59R|IMMP1L_uc009yjo.3_Missense_Mutation_p.H59R|IMMP1L_uc009yjp.3_Intron	NM_144981	NP_659418	Q96LU5	IMP1L_HUMAN	Homo sapiens IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP1L), nuclear gene encoding mitochondrial protein, mRNA.	59					proteolysis	mitochondrial inner membrane	serine-type peptidase activity			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					ACCATAAAAATGTCGACTAAG	0.318000														23			11		0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15880497	15880497	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:15880497G>T	uc002ddx.3	-	4	730	c.623C>A	c.(622-624)aCa>aAa	p.T208K	MYH11_uc002ddv.3_Missense_Mutation_p.T208K|MYH11_uc002ddw.3_Missense_Mutation_p.T208K|MYH11_uc002ddy.3_Missense_Mutation_p.T208K|MYH11_uc010bvg.3_Missense_Mutation_p.H33Q|MYH11_uc002deb.3_Missense_Mutation_p.T208K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	208	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGTGATACTTGTGTCTTTCTT	0.527000			T	CBFB	AML									33			20		4.35082e-09	4.62274e-09	1	1	0
TAF15	8148	broad.mit.edu	37	17	34172014	34172014	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:34172014G>T	uc002hkd.3	+	14	1797	c.1711G>T	c.(1711-1713)Ggt>Tgt	p.G571C	TAF15_uc002hkc.3_Missense_Mutation_p.G568C	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	571	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGGAGACCGAGGTGGCTATGG	0.527000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									93			47		8.04919e-23	9.39072e-23	1	1	0
SLC22A7	10864	broad.mit.edu	37	6	43266249	43266249	+	Silent	SNP	G	A	A	rs140596352		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:43266249G>A	uc021yzt.1	+	0	252	c.153G>A	c.(151-153)ctG>ctA	p.L51L	SLC22A7_uc010jyl.1_Silent_p.L51L|SLC22A7_uc003ous.3_Silent_p.L51L|SLC22A7_uc003out.3_Silent_p.L51L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	51						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GATGTGCCCTGCCGGGTGCCC	0.662000														46			30		0	0	1	0	0
MYL9	10398	broad.mit.edu	37	20	35177592	35177592	+	Silent	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr20:35177592C>T	uc002xfl.1	+	3	553	c.459C>T	c.(457-459)aaC>aaT	p.N153N	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.N99N	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	153	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGAAAGGCAACTTCAACTACG	0.592000														40			18		0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23306207	23306207	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:23306207C>A	uc003swc.3	+	6	1287	c.1126C>A	c.(1126-1128)Cac>Aac	p.H376N	GPNMB_uc003swb.3_Missense_Mutation_p.H364N|GPNMB_uc011jyy.2_Missense_Mutation_p.H318N|GPNMB_uc011jyz.2_Missense_Mutation_p.H265N	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	376					negative regulation of cell proliferation	melanosome		p.G375G(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATATGGCCACTTTCAAGC	0.478000														32			18		1.99824e-07	2.06774e-07	1	1	0
DHRS4	10901	broad.mit.edu	37	14	24424306	24424306	+	Missense_Mutation	SNP	G	A	A	rs79086208	byFrequency	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:24424306G>A	uc001wla.3	+	1	224	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	DHRS4-AS1_uc001wkz.2_5'Flank|DHRS4-AS1_uc001wky.2_5'Flank|DHRS4-AS1_uc001wkx.2_5'Flank|DHRS4-AS1_uc010akx.1_5'Flank|DHRS4_uc010aky.2_Missense_Mutation_p.R64Q|DHRS4_uc001wlb.3_Missense_Mutation_p.R64Q|DHRS4_uc010akz.3_Missense_Mutation_p.R64Q|DHRS4_uc001wld.4_Missense_Mutation_p.R64Q|DHRS4_uc001wle.4_Missense_Mutation_p.R64Q|DHRS4_uc001wlc.4_Missense_Mutation_p.R64Q	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 (DHRS4), mRNA.	64						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GTCAGCAGCCGGAAGCAGCAG	0.667000														82			5		0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89169104	89169104	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:89169104G>A	uc010cig.2	+	2	967	c.759G>A	c.(757-759)gcG>gcA	p.A253A	ACSF3_uc010cih.2_5'UTR|ACSF3_uc002fmp.3_Silent_p.A253A|ACSF3_uc021tmq.1_Silent_p.A253A|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	253					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity	p.A253S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGTCAACGCGCTGCTCTGTC	0.627000														68			5		0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572702	38572702	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:38572702T>C	uc002ohk.3	+	2	1006	c.497T>C	c.(496-498)cTt>cCt	p.L166P		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTCCTCCCCCTTCGGCACCGC	0.711000														66			47		0	0	1	0	0
DRD5	1816	broad.mit.edu	37	4	9784197	9784197	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:9784197A>T	uc003gmb.4	+	0	940	c.544A>T	c.(544-546)Agg>Tgg	p.R182W		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	182					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAACTGGCACAGGGACCAGGC	0.617000														47			31		0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819621	50819621	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:50819621G>C	uc001jhw.3	+	0	1275	c.835G>C	c.(835-837)Ggc>Cgc	p.G279R	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	279					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCTGCCAGTGGGCACTCCCAT	0.647000														84			28		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37365711	37365711	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:37365711G>A	uc010ynh.2	-	6	1091	c.534C>T	c.(532-534)tcC>tcT	p.S178S	EIF2AK2_uc010fab.2_Silent_p.S178S|EIF2AK2_uc010yng.2_Silent_p.S178S|EIF2AK2_uc010fac.3_Silent_p.S178S|EIF2AK2_uc010fad.2_Silent_p.S178S	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	178					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGAACCAGAGGACAGGTAGT	0.363000														35			26		0	0	1	0	0
RUVBL2	10856	broad.mit.edu	37	19	49510337	49510337	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:49510337T>C	uc002plr.1	+	4	341	c.328T>C	c.(328-330)Tcc>Ccc	p.S110P	RUVBL2_uc010yab.2_Missense_Mutation_p.S110P|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.S65P	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	110					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		TGAAATCTTCTCCCTGGAGAT	0.657000														66			34		0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74026107	74026107	+	Silent	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:74026107G>T	uc010izj.1	-	17	2126	c.1800C>A	c.(1798-1800)atC>atA	p.I600I	GFM2_uc003kdh.1_Silent_p.I568I|GFM2_uc003kdi.1_Silent_p.I521I|GFM2_uc010izk.1_Intron	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	568					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		CTGAGTTTAGGATGGTCTCTC	0.413000														68			29		3.69857e-22	4.2731e-22	1	1	0
NELL1	4745	broad.mit.edu	37	11	21594920	21594920	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:21594920A>T	uc009yid.3	+	19	2584	c.2431A>T	c.(2431-2433)Atg>Ttg	p.M811L	NELL1_uc010rdp.2_Missense_Mutation_p.M496L|NELL1_uc001mqe.3_Missense_Mutation_p.M783L|NELL1_uc001mqf.3_Missense_Mutation_p.M736L|NELL1_uc010rdo.2_Missense_Mutation_p.M726L|NELL1_uc001mqh.3_Missense_Mutation_p.M328L	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	783					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGTGTGGACGATGGCTGGATC	0.488000														119			63		0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15288921	15288921	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:15288921A>G	uc003bzn.3	+	18	2431	c.2161A>G	c.(2161-2163)Ata>Gta	p.I721V		NM_014296	NP_055111	Q9Y6W3	CAN7_HUMAN	Homo sapiens calpain 7 (CAPN7), mRNA.	721	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CCAATTCCATATAGAAAAGAC	0.363000														54			37		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21908512	21908512	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:21908512G>T	uc003svc.3	+	73	11922	c.11891G>T	c.(11890-11892)gGa>gTa	p.G3964V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3964	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATTGACTCTGGAAAATTCCAC	0.498000									Kartagener syndrome					98			10		1.58986e-06	1.61704e-06	1	1	0
H2AFY2	55506	broad.mit.edu	37	10	71868875	71868875	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:71868875C>A	uc001jqm.3	+	7	1324	c.865C>A	c.(865-867)Cag>Aag	p.Q289K	AIFM2_uc010qjg.2_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	289	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						ATGTGAAGAACAGCTTGAAGA	0.557000														134			18		1.33834e-09	1.46112e-09	1	1	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117481	117481	+	RNA	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrGL000205.1:117481G>A	uc002kgk.4	+	0		c.859G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GAGAGTGATCGTGCAGGTGGG	0.572000														50			4		0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99971777	99971777	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:99971777T>G	uc003uuo.1	+	1	387	c.175T>G	c.(175-177)Tgg>Ggg	p.W59G	PILRA_uc011kjn.1_Missense_Mutation_p.W59G|PILRA_uc011kjo.2_Missense_Mutation_p.W59G|PILRA_uc003uup.1_Missense_Mutation_p.W59G|PILRA_uc003uuq.1_Missense_Mutation_p.W59G	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	59	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTATTACCCCTGGGAGTTAGC	0.547000														81			9		0	0	1	0	0
CYP2D7P1	1564	broad.mit.edu	37	22	42537280	42537280	+	Missense_Mutation	SNP	T	C	C	rs28367005	by1000genomes	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr22:42537280T>C	uc003bci.3	-	6	1166	c.785A>G	c.(784-786)cAc>cGc	p.H262R	CYP2D7P1_uc003bcg.3_Missense_Mutation_p.H6R|CYP2D7P1_uc010gyv.3_Missense_Mutation_p.H46R|CYP2D7P1_uc010gyw.3_Non-coding_Transcript|CYP2D7P1_uc021wqk.1_Non-coding_Transcript|CYP2D7P1_uc010gyx.1_3'UTR					Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 1 (CYP2D7P1), non-coding RNA.											endometrium(1)	1						GTAGGGCATGTGAGCCTGGTC	0.577000														9			2		0	0	1	0	0
ACAA1	30	broad.mit.edu	37	3	38168151	38168151	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:38168151T>G	uc003cht.3	-	7	874	c.667A>C	c.(667-669)Att>Ctt	p.I223L	ACAA1_uc003chu.3_Missense_Mutation_p.I190L	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		ACAGGCACAATCTCAGCTTGG	0.612000														65			42		0	0	1	0	0
SEPHS2	22928	broad.mit.edu	37	16	30456699	30456699	+	Missense_Mutation	SNP	A	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:30456699A>T	uc021tgl.1	-	0	526	c.350T>A	c.(349-351)aTc>aAc	p.I117N	SEPHS2_uc002dyh.1_Missense_Mutation_p.I60N	NM_012248		Q99611	SPS2_HUMAN	Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA.	117					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						GTCCATCCCGATGCCCAGGGC	0.677000														17			10		0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7615223	7615223	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:7615223G>A	uc010xjq.2	+	16	2121	c.1881G>A	c.(1879-1881)gcG>gcA	p.A627A	PNPLA6_uc002mgq.2_Silent_p.A579A|PNPLA6_uc010xjp.2_Silent_p.A553A|PNPLA6_uc002mgr.2_Silent_p.A579A|PNPLA6_uc002mgs.3_Silent_p.A618A	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	618					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	p.R627H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGAGTGCGGCGCACACGGTGG	0.637000														85			39		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156877993	156877993	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:156877993C>T	uc001fqj.1	+	8	1092	c.976C>T	c.(976-978)Cgt>Tgt	p.R326C	PEAR1_uc009wsl.1_Missense_Mutation_p.R127C|PEAR1_uc001fqk.1_5'UTR	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	326	EGF-like 4.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCGGACGCCCGTTGCTTCCC	0.692000														11			10		0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101529603	101529603	+	Splice_Site	SNP	A	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr15:101529603A>G	uc002bwr.3	+	6	1081	c.762_splice	c.e6+1	p.T254_splice	LRRK1_uc010usb.2_Splice_Site|LRRK1_uc010usc.2_Splice_Site|LRRK1_uc002bwq.1_Silent_p.T254T	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	254					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGGAAAAACAGTGAGTAGTC	0.433000														31			28		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34077159	34077159	+	Silent	SNP	G	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:34077159G>C	uc002hjv.2	-	1	592	c.564C>G	c.(562-564)ccC>ccG	p.P188P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	188					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCGAGGGGTCGGGCGGGGGCA	0.746000														51			24		0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45711249	45711249	+	Silent	SNP	A	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:45711249A>C	uc001wwf.3	-	3	1590	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	MIS18BP1_uc010anh.2_Non-coding_Transcript	NM_018353	NP_060823	Q6P0N0	M18BP_HUMAN	Homo sapiens MIS18 binding protein 1 (MIS18BP1), mRNA.	377					CenH3-containing nucleosome assembly at centromere|cell division|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	p.G376V(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						GATTTTTTTTAAGTCCATTTG	0.308000														15			29		0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25029240	25029240	+	Silent	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr13:25029240T>C	uc001upl.3	-	21	2779	c.2673A>G	c.(2671-2673)acA>acG	p.T891T	PARP4_uc010tdc.2_Silent_p.T891T	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	891	VWFA.				DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTTGCAAGAATGTCACACCCT	0.502000														158			90		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107032393	107032393	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:107032393G>A	uc010ywi.1	-	20	5034	c.4977C>T	c.(4975-4977)ctC>ctT	p.L1659L		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1659					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGGTGGAACTGAGCTTCTGAA	0.388000														215			16		0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98195710	98195710	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:98195710T>C	uc003knf.3	-	31	4638	c.4490A>G	c.(4489-4491)tAt>tGt	p.Y1497C	CHD1_uc010jbn.3_Missense_Mutation_p.Y223C	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1497					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	AGCATGCTTATATAATTTATG	0.274000														23			37		0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65460514	65460514	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:65460514G>T	uc001ssk.3	-	5	1012	c.637C>A	c.(637-639)Ctt>Att	p.L213I		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	213	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GGGGTACAAAGGGCTTATAGG	0.433000			T	HMGA2	pleomorphic salivary gland adenoma									31			13		2.68362e-12	2.98459e-12	1	1	0
PRR5L	79899	broad.mit.edu	37	11	36472765	36472765	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:36472765C>T	uc001mwo.4	+	7	981	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	PRR5L_uc001mwp.3_Missense_Mutation_p.H198Y|PRR5L_uc009ykk.3_Missense_Mutation_p.H70Y|PRR5L_uc010rfc.2_Intron	NM_001160167	NP_079117	Q6MZQ0	PRR5L_HUMAN	Homo sapiens proline rich 5 like (PRR5L), transcript variant 1, mRNA.	198								p.H198Y(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCAGAGTGTTCACGAGCCCAC	0.502000														79			59		0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123900898	123900898	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr9:123900898T>G	uc004bkx.1	+	13	2309	c.2278T>G	c.(2278-2280)Ttc>Gtc	p.F760V	CNTRL_uc004bky.1_Missense_Mutation_p.F364V|CNTRL_uc004bkz.1_Missense_Mutation_p.F208V|CNTRL_uc004bla.1_Missense_Mutation_p.F208V	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN	Homo sapiens centriolin (CNTRL), mRNA.	760					G2/M transition of mitotic cell cycle|cell division	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AAAAGCCCAGTTCTCAGAAGA	0.418000														53			37		0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82877724	82877724	+	Silent	SNP	A	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:82877724A>G	uc001ozx.4	+	4	2130	c.1785A>G	c.(1783-1785)aaA>aaG	p.K595K	PCF11_uc010rsu.1_Silent_p.K595K	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	595					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						AGTCTGCCAAAAGATGGAAAT	0.348000														61			43		0	0	1	0	0
POC5	134359	broad.mit.edu	37	5	74981182	74981182	+	Silent	SNP	G	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:74981182G>C	uc003keh.4	-	9	1454	c.1257C>G	c.(1255-1257)tcC>tcG	p.S419S	POC5_uc010izu.3_Silent_p.S302S|POC5_uc003keg.4_Silent_p.S394S	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	419					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGGCTGGTGGGGATGGCAGCA	0.557000														135			44		0	0	1	0	0
UBA1	7317	broad.mit.edu	37	X	47069022	47069022	+	Splice_Site	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrX:47069022T>G	uc004dhj.4	+	17	2090	c.1939_splice	c.e17-1	p.W647_splice	UBA1_uc004dhk.4_Splice_Site_p.W647_splice|UBA1_uc004dhm.3_Missense_Mutation_p.W95G	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	647					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTCTGCAGTGGGCTCGGGA	0.498000														6			25		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737430	4737430	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:4737430T>G	uc001qnb.4	-	3	882	c.638A>C	c.(637-639)aAa>aCa	p.K213T		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	213					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GGACTTGTATTTCAAATTTGG	0.468000														74			111		0	0	1	0	0
C1orf112	55732	broad.mit.edu	37	1	169806133	169806133	+	Silent	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:169806133C>T	uc001ggq.3	+	16	2305	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Silent_p.S535S|C1orf112_uc009wvt.3_Silent_p.S212S|C1orf112_uc009wvu.1_Silent_p.S411S|C1orf112_uc001ggr.3_Silent_p.S400S|C1orf112_uc010plv.2_Silent_p.S477S	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	535										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AACATATTTCCTTCCAGGCGT	0.438000														36			21		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70450862	70450862	+	Missense_Mutation	SNP	T	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:70450862T>G	uc001jok.4	+	11	6207	c.5702T>G	c.(5701-5703)aTt>aGt	p.I1901S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1901					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GGCCCTGGCATTTCACAGCTT	0.572000														65			81		0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096129	167096129	+	Silent	SNP	A	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:167096129A>G	uc001geb.1	+	4	1777	c.1761A>G	c.(1759-1761)acA>acG	p.T587T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	587					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TCAGCCTGACAGCCTACCAGG	0.597000														31			25		0	0	1	0	0
CPB2	1361	broad.mit.edu	37	13	46658419	46658419	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr13:46658419A>C	uc001vaw.3	-	2	277	c.210T>G	c.(208-210)ttT>ttG	p.F70L	AK124928_uc001vau.1_Intron|AK124928_uc001vav.1_Intron|CPB2_uc001vax.3_Missense_Mutation_p.F70L	NM_001872	NP_001863	Q96IY4	CBPB2_HUMAN	Homo sapiens carboxypeptidase B2 (plasma) (CPB2), transcript variant 1, mRNA.	70					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CATTTACAAAAAAATGGACTT	0.368000														83			69		0	0	1	0	0
C11orf67	28971	broad.mit.edu	37	11	77580812	77580812	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:77580812G>A	uc001oyq.3	+	2	275	c.177G>A	c.(175-177)gaG>gaA	p.E59E	C11orf67_uc001oyp.3_Silent_p.E59E|C11orf67_uc001oyr.1_Silent_p.E59E	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.	59										stomach(2)	2	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)			AAGTTGTTGAGAAGGGTGTAC	0.493000														147			75		0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74407130	74407130	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:74407130T>C	uc003php.3	+	1	513	c.82T>C	c.(82-84)Ttt>Ctt	p.F28L	CD109_uc003phq.3_Missense_Mutation_p.F28L|CD109_uc010kba.3_Missense_Mutation_p.F28L|AK124950_uc003pho.1_5'Flank	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	28						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAGGCCTCGGTTTCTGGTGAC	0.507000														62			44		0	0	1	0	0
PCSK7	9159	broad.mit.edu	37	11	117077797	117077797	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:117077797G>A	uc001pqr.3	-	14	2067	c.1866C>T	c.(1864-1866)atC>atT	p.I622I	PCSK7_uc001pqs.1_Intron	NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	622					peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTCTGTCCCTGATGTCTACTG	0.607000			T	IGH@	MLCLS									82			16		0	0	1	0	0
LSM14A	26065	broad.mit.edu	37	19	34712486	34712486	+	Missense_Mutation	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:34712486G>T	uc002nvb.4	+	8	1407	c.1211G>T	c.(1210-1212)cGt>cTt	p.R404L	LSM14A_uc002nva.4_Missense_Mutation_p.R404L|LSM14A_uc010xru.2_Missense_Mutation_p.R363L|LSM14A_uc002nvc.4_Missense_Mutation_p.R210L	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	404					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CGTCCAAACCGTGGCCGTGGG	0.507000														36			17		2.35188e-11	2.59142e-11	1	1	0
MAX	4149	broad.mit.edu	37	14	65472892	65472892	+	Splice_Site	SNP	G	T	T	rs74781178		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:65472892G>T	uc001xic.1	-	4	452	c.282_splice	c.e4+1		CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|CHURC1-FNTB_uc001xia.3_Intron	NM_197957	NP_932061	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 6, mRNA.						transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		TTTTTTTTTTGCCACCATTTC	0.368000														22			4		7.48243e-07	7.67594e-07	1	1	0
EPPK1	83481	broad.mit.edu	37	8	144942527	144942527	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr8:144942527C>G	uc003zaa.1	-	0	4908	c.4895G>C	c.(4894-4896)gGa>gCa	p.G1632A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1632						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCGAACATTCCTGCTTTGAA	0.627000														68			35		0	0	1	0	0
TRIM8	81603	broad.mit.edu	37	10	104415049	104415049	+	Silent	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:104415049G>A	uc001kvz.2	+	2	1002	c.879G>A	c.(877-879)acG>acA	p.T293T		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	293						PML body|cytoplasm	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TTGATAAGACGGAGGATGTCA	0.597000														74			7		0	0	1	0	0
ARL6IP1	23204	broad.mit.edu	37	16	18810023	18810023	+	Splice_Site	SNP	A	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:18810023A>G	uc002dfl.1	-	2	239	c.170_splice	c.e2+1	p.L57_splice	ARL6IP1_uc010van.1_Splice_Site_p.L28_splice|ARL6IP1_uc010bvz.1_Splice_Site	NM_015161	NP_055976	Q15041	AR6P1_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 interacting protein 1 (ARL6IP1), mRNA.	57						integral to membrane	protein binding			breast(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)	11						GCTCACTTACAGAAACACCAA	0.413000														94			58		0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24032848	24032848	+	Splice_Site	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:24032848C>T	uc001wkl.2	-	13	1570	c.1233_splice	c.e13-1	p.R411_splice	AP1G2_uc001wkk.3_Splice_Site_p.R339_splice|AP1G2_uc001wkn.2_Splice_Site_p.R30_splice|AX747770_uc001wko.1_Intron|AP1G2_uc001wkp.1_Intron|AP1G2_uc010tnp.1_Splice_Site_p.R411_splice	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	411					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGGAGCAAACCTAGGGGATAT	0.567000											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			39		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114232517	114232517	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:114232517T>A	uc003ibe.4	+	23	2755	c.2655T>A	c.(2653-2655)aaT>aaA	p.N885K	ANK2_uc003ibd.4_Missense_Mutation_p.N864K|ANK2_uc003ibf.4_Missense_Mutation_p.N885K|ANK2_uc011cgc.2_Missense_Mutation_p.N94K|ANK2_uc003ibc.2_Missense_Mutation_p.N861K|ANK2_uc011cgb.1_Missense_Mutation_p.N900K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	885					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGTATGAATTACCTGCGAT	0.438000														33			33		0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142148929	142148929	+	Splice_Site	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:142148929C>T	uc022anh.1	-	1		c.82_splice	c.e1+1		TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron					Homo sapiens synovial T-cell receptor beta chain variable region (BV5-8) mRNA, partial cds.																		CGGGCTGTGCCAAGCTGCTGG	0.532000														123			58		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153037078	153037078	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrX:153037078G>C	uc010nuk.2	+	14	2825	c.2554G>C	c.(2554-2556)Gag>Cag	p.E852Q	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Missense_Mutation_p.E511Q|PLXNB3_uc004fii.2_Missense_Mutation_p.E829Q|PLXNB3_uc011mzd.1_Missense_Mutation_p.E468Q|PLXNB3_uc004fij.1_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	829	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGCTGTGGAGCTGCTGTG	0.692000														0			10		0	0	1	0	0
OGFOD1	55239	broad.mit.edu	37	16	56485680	56485680	+	Splice_Site	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:56485680T>C	uc002ejb.3	+	1	255	c.154_splice	c.e1+2	p.E52_splice	OGFOD1_uc002ejc.3_Intron|NUDT21_uc002eja.3_5'Flank	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	52							L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TCAGTCACGGTAACCGGGTGC	0.632000														35			18		0	0	1	0	0
LRRC1	55227	broad.mit.edu	37	6	53660212	53660212	+	Splice_Site	SNP	A	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:53660212A>T	uc003pcd.1	+	1	680	c.159_splice	c.e1+1	p.E53_splice		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	53						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGCTGCCCGAGGTAAGGGTC	0.682000														21			8		0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651018	121651018	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:121651018G>C	uc003vjy.3	+	11	2313	c.1918G>C	c.(1918-1920)Gaa>Caa	p.E640Q	PTPRZ1_uc011knt.2_Missense_Mutation_p.E640Q|PTPRZ1_uc003vjz.3_Missense_Mutation_p.E640Q	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	640					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATCAGGTTCAGAAGAATCACT	0.418000														52			38		0	0	1	0	0
MARCH6	10299	broad.mit.edu	37	5	10411600	10411600	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:10411600G>A	uc003jet.1	+	18	2030	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	MARCH6_uc011cmu.1_Missense_Mutation_p.G568E|MARCH6_uc003jeu.1_Missense_Mutation_p.G314E|MARCH6_uc011cmv.1_Missense_Mutation_p.G511E	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	616					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGCAGGGAGGGCCTGTTGGC	0.453000														88			40		0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7189210	7189210	+	Missense_Mutation	SNP	G	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:7189210G>C	uc002gfp.3	+	9	1509	c.1309G>C	c.(1309-1311)Ggt>Cgt	p.G437R	SLC2A4_uc010cmd.3_Non-coding_Transcript|SLC2A4_uc021tpa.1_Missense_Mutation_p.G427R	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	437					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTGGCATGGGTTTCCAGTA	0.627000														41			24		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7399344	7399344	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:7399344C>G	uc002ghf.4	+	1	564	c.178C>G	c.(178-180)Ccg>Gcg	p.P60A	POLR2A_uc002ghe.3_Missense_Mutation_p.P60A	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	60					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCTGATGGACCCGAGGCAGGG	0.612000														58			32		0	0	1	0	0
DNM1	1759	broad.mit.edu	37	9	130985083	130985083	+	Missense_Mutation	SNP	T	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr9:130985083T>A	uc022bob.1	+	8	1227	c.1140T>A	c.(1138-1140)gaT>gaA	p.D380E	DNM1_uc022bnx.1_Missense_Mutation_p.D380E|DNM1_uc022bny.1_Missense_Mutation_p.D380E|DNM1_uc022bnz.1_Missense_Mutation_p.D380E|DNM1_uc022boa.1_Missense_Mutation_p.D380E	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	380					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TGGAGTTTGATGAGAAGGAAC	0.547000														63			38		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18882177	18882177	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:18882177G>A	uc002dfm.3	-	16	2699	c.2336C>T	c.(2335-2337)gCa>gTa	p.A779V	SMG1_uc010bwb.3_Missense_Mutation_p.A639V	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	779	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTGCTGCATGCCTGCAGACA	0.373000														5			7		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107183620	107183620	+	RNA	SNP	T	A	A	rs3213594	by1000genomes	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr14:107183620T>A	uc021ser.1	-	29		c.1958A>T								Parts of antibodies, mostly variable regions.																		TGAAGGTGAATCCAGAGGCTG	0.577000														81			6		0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47127778	47127778	+	Missense_Mutation	SNP	C	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr3:47127778C>A	uc003cqv.3	-	11	5591	c.5505G>T	c.(5503-5505)aaG>aaT	p.K1835N	SETD2_uc003cqs.3_Missense_Mutation_p.K1768N|SETD2_uc003cqt.1_5'Flank	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCAGAAAGGACTTCAGGCAGG	0.512000			"""N, F, S, Mis"""		clear cell renal carcinoma									32			19		2.37509e-13	2.66638e-13	1	1	0
CNNM4	26504	broad.mit.edu	37	2	97428127	97428127	+	Missense_Mutation	SNP	A	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:97428127A>G	uc002swx.3	+	0	1489	c.1391A>G	c.(1390-1392)gAg>gGg	p.E464G		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	464	CBS 2.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						ATGCTGGAGGAGTTCAAGAAG	0.517000														44			29		0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12902787	12902787	+	Missense_Mutation	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:12902787T>C	uc002mvc.3	+	0	478	c.202T>C	c.(202-204)Tac>Cac	p.Y68H		NM_002229	NP_002220	P17275	JUNB_HUMAN	Homo sapiens jun B proto-oncogene (JUNB), mRNA.	68						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						TGGCGGCAGCTACTTTTCTGG	0.672000														15			12		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122825594	122825594	+	Missense_Mutation	SNP	A	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:122825594A>C	uc003ieg.2	-	7	2210	c.2136T>G	c.(2134-2136)gaT>gaG	p.D712E	TRPC3_uc010inr.2_Missense_Mutation_p.D584E|TRPC3_uc003ief.2_Missense_Mutation_p.D639E|TRPC3_uc011cgl.1_Missense_Mutation_p.D376E	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	627					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGAATTTGTGATCATATTTGA	0.308000														31			18		0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98413329	98413329	+	Silent	SNP	T	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:98413329T>A	uc002syh.4	-	26	3220	c.2991A>T	c.(2989-2991)gcA>gcT	p.A997A		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	997						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTTTTAACAATGCTTCCGTGA	0.393000														35			21		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24416117	24416117	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:24416117C>G	uc001bin.4	-	13	1688	c.1525G>C	c.(1525-1527)Gcc>Ccc	p.A509P	MYOM3_uc001bim.4_Missense_Mutation_p.A166P|MYOM3_uc001bio.3_Missense_Mutation_p.A509P|MYOM3_uc001bip.1_Missense_Mutation_p.A166P	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	509	Fibronectin type-III 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATCTCGCTGGCATGGACATTG	0.602000														3			3		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79724879	79724879	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:79724879G>A	uc011dyp.2	-	14	1670	c.1444C>T	c.(1444-1446)Ctc>Ttc	p.L482F	PHIP_uc003pir.3_Missense_Mutation_p.L482F	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	482					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GCAGAAAAGAGAACTCTAGGA	0.358000														56			10		0	0	1	0	0
GSTP1	2950	broad.mit.edu	37	11	67352235	67352235	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:67352235G>A	uc001omf.3	+	3	473	c.224G>A	c.(223-225)cGc>cAc	p.R75H		NM_000852	NP_000843	P09211	GSTP1_HUMAN	Homo sapiens glutathione S-transferase pi 1 (GSTP1), mRNA.	75	GST N-terminal.				anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of JUN kinase activity|negative regulation of acute inflammatory response|negative regulation of fibroblast proliferation|negative regulation of interleukin-1 beta production|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process	cytosol|protein complex	JUN kinase binding|S-nitrosoglutathione binding|dinitrosyl-iron complex binding|glutathione transferase activity|kinase regulator activity|nitric oxide binding			central_nervous_system(1)|cervix(1)|endometrium(4)|lung(2)|ovary(1)	9					Ethacrynic acid(DB00903)|Glutathione(DB00143)	CACCTGGGCCGCACCCTTGGT	0.617000														59			53		0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937461	26937461	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr22:26937461G>A	uc003acw.3	-	2	477	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	TPST2_uc003acx.3_Missense_Mutation_p.R46W|TPST2_uc011akf.1_Missense_Mutation_p.R46W	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	46					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGCTCAGGCCGCATGGCCCCC	0.701000														33			3		0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145532515	145532515	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:145532515G>A	uc001eoa.3	+	8	1044	c.968G>A	c.(967-969)aGa>aAa	p.R323K	ITGA10_uc010oyv.2_Missense_Mutation_p.R192K|ITGA10_uc009wiw.3_Missense_Mutation_p.R180K|ITGA10_uc010oyw.2_Missense_Mutation_p.R268K	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	323	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAGAAATTAGAACTATTGCC	0.473000														94			58		0	0	1	0	0
RPRML	388394	broad.mit.edu	37	17	45056017	45056017	+	Silent	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:45056017C>T	uc002ilb.3	-	0	598	c.357G>A	c.(355-357)ctG>ctA	p.L119L	GOSR2_uc010wkh.1_Intron	NM_203400	NP_981945	Q8N4K4	RPRML_HUMAN	Homo sapiens reprimo-like (RPRML), mRNA.	119						integral to membrane				lung(1)	1						GCGCTCAGTACAGCCCCAGGA	0.682000														12			7		0	0	1	0	0
PITPNC1	26207	broad.mit.edu	37	17	65665781	65665781	+	Splice_Site	SNP	T	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:65665781T>C	uc002jgc.3	+	7	965	c.618_splice	c.e7+2	p.K206_splice	PITPNC1_uc002jgb.3_Splice_Site_p.K206_splice	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	206					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GTACACAAGGTAAGTGGTCCA	0.468000														7			11		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140724210	140724210	+	Nonsense_Mutation	SNP	A	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:140724210A>T	uc003ljm.2	+	0	610	c.610A>T	c.(610-612)Aaa>Taa	p.K204*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Nonsense_Mutation_p.K204*	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	204	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCGTGAGAAAAAAGAAAT	0.537000														86			36		0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48549793	48549793	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:48549793G>A	uc010wmm.1	+	12	1507	c.1403G>A	c.(1402-1404)cGg>cAg	p.R468Q	ACSF2_uc002iqu.2_Missense_Mutation_p.R443Q|ACSF2_uc010wml.1_Missense_Mutation_p.R400Q|ACSF2_uc010wmn.1_Missense_Mutation_p.R430Q|ACSF2_uc010wmo.1_Missense_Mutation_p.R283Q|ACSF2_uc010dbt.1_Intron	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	443					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			TCCCAGGCCCGGATCATGAAC	0.612000														18			27		0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115372127	115372127	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:115372127C>G	uc001lal.3	-	29	3528	c.3364G>C	c.(3364-3366)Gcc>Ccc	p.A1122P	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.A1122P|NRAP_uc001lak.3_Missense_Mutation_p.A1087P	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	1122						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.A1122T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TGCACCAGGGCGGCCATGTCC	0.532000														102			36		0	0	1	0	0
PRSS53	339105	broad.mit.edu	37	16	31098021	31098021	+	Silent	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:31098021C>T	uc002eaq.3	-	3	441	c.441G>A	c.(439-441)caG>caA	p.Q147Q	PRSS53_uc002ear.3_5'UTR	NM_001039503	NP_001034592	Q2L4Q9	PRS53_HUMAN	Homo sapiens protease, serine, 53 (PRSS53), mRNA.	147	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						GATGGGCGGGCTGGGGCAGGC	0.657000														41			38		0	0	1	0	0
TMEM175	84286	broad.mit.edu	37	4	947053	947053	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:947053C>G	uc003gbq.3	+	7	636	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	TMEM175_uc010ibl.1_Missense_Mutation_p.L180V|TMEM175_uc003gbp.1_Missense_Mutation_p.L98V|TMEM175_uc003gbs.3_Missense_Mutation_p.L63V|TMEM175_uc003gbt.3_Missense_Mutation_p.L63V|TMEM175_uc003gbr.3_Missense_Mutation_p.L98V	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	180						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCACAGGGCTCTGTACCGACG	0.617000														28			31		0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128840894	128840894	+	Missense_Mutation	SNP	C	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:128840894C>T	uc009zcp.3	-	21	4172	c.4172G>A	c.(4171-4173)cGg>cAg	p.R1391Q	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R350Q|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1042Q	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1391	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CAGCGGGACCCGGGCACCGTC	0.632000														32			24		0	0	1	0	0
LRRC46	90506	broad.mit.edu	37	17	45914207	45914207	+	Missense_Mutation	SNP	G	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:45914207G>A	uc002ima.3	+	7	1050	c.687G>A	c.(685-687)atG>atA	p.M229I	LRRC46_uc002imb.3_Missense_Mutation_p.M182I	NM_033413	NP_219481	Q96FV0	LRC46_HUMAN	Homo sapiens leucine rich repeat containing 46 (LRRC46), mRNA.	229										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGATGGAGATGCAGCCCACCC	0.667000														86			35		0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42063171	42063171	+	Missense_Mutation	SNP	C	T	T	rs35488756	byFrequency	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:42063171C>T	uc011kbh.2	-	9	1484	c.1393G>A	c.(1393-1395)Ggg>Agg	p.G465R	GLI3_uc011kbg.2_Missense_Mutation_p.G406R	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	465					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTTTGTCCCCTTCCTCCTTG	0.542000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly					55			36		0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136305499	136305499	+	Silent	SNP	G	T	T			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr9:136305499G>T	uc004cdv.4	+	15	2265	c.1821G>T	c.(1819-1821)ggG>ggT	p.G607G	ADAMTS13_uc004cdp.4_5'UTR|ADAMTS13_uc004cdt.1_Silent_p.G607G|ADAMTS13_uc004cdu.1_Silent_p.G576G|ADAMTS13_uc004cdw.4_Silent_p.G607G|ADAMTS13_uc004cdx.4_Silent_p.G576G|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Silent_p.G277G|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Silent_p.G132G	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	607	Spacer.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TCGTGGCTGGGAAGATGAGCA	0.642000														57			27		3.65163e-15	4.13851e-15	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76491997	76491997	+	Missense_Mutation	SNP	C	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr17:76491997C>G	uc010dhp.2	-	37	5988	c.5863G>C	c.(5863-5865)Gga>Cga	p.G1955R	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCCGCGCGTCCGGCGTACCCA	0.557000														54			16		0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169100749	169100768	+	Frame_Shift_Del	DEL	CGTTTTCAGGGACGTTTTGA	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr1:169100749_169100768delCGTTTTCAGGGACGTTTTGA	uc001gfr.1	+	5	989_1008	c.868_887delCGTTTTCAGGGACGTTTTGA	c.(868-888)cgttttcagggacgttttgatfs	p.R290fs		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	290					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	p.R290S(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TGAGAAAGACCGTTTTCAGGGACGTTTTGATGTAAAAATT	0.400													---	57	---	---	26	---					
OTOF	9381	broad.mit.edu	37	2	26693573	26693574	+	Frame_Shift_Ins	INS	-	C	C			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:26693573_26693574insC	uc002rhk.3	-	31	4037_4038	c.3910_3911insG	c.(3910-3912)gagfs	p.E1304fs	OTOF_uc010yla.2_Frame_Shift_Ins_p.E34fs|OTOF_uc002rhh.3_Frame_Shift_Ins_p.E537fs|OTOF_uc002rhi.3_Frame_Shift_Ins_p.E614fs|OTOF_uc002rhj.3_Frame_Shift_Ins_p.E537fs	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1304	Poly-Lys.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					cttcttcttctccttctcctcc	0.584													---	49	---	---	34	---					
GALNT5	11227	broad.mit.edu	37	2	158115698	158115699	+	Frame_Shift_Ins	INS	-	T	T	rs141648249		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr2:158115698_158115699insT	uc002tzg.3	+	0	1359_1360	c.1104_1105insT	c.(1102-1107)tcctctfs	p.S368fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	368					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AGATGTCTTCCTCTTCACTTGC	0.416													---	97	---	---	49	---					
ADAM29	11086	broad.mit.edu	37	4	175898831	175898832	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr4:175898831_175898832insA	uc003iuc.3	+	4	2825_2826	c.2155_2156insA	c.(2155-2157)gaafs	p.E719fs	ADAM29_uc003iud.3_Frame_Shift_Ins_p.E719fs|ADAM29_uc010irr.3_Frame_Shift_Ins_p.E719fs|ADAM29_uc011cki.2_Frame_Shift_Ins_p.E719fs|ADAM29_uc021xuo.1_Frame_Shift_Ins_p.E719fs	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	719					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.E719K(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAAAGAAGAGGAAAAAATTCAG	0.406													---	28	---	---	46	---					
CENPH	64946	broad.mit.edu	37	5	68505552	68505552	+	Frame_Shift_Del	DEL	A	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:68505552delA	uc003jvp.3	+	8	757	c.670delA	c.(670-672)aaafs	p.K224fs	CENPH_uc010ixc.3_Frame_Shift_Del_p.K205fs	NM_022909	NP_075060	Q9H3R5	CENPH_HUMAN	Homo sapiens centromere protein H (CENPH), mRNA.	224					CenH3-containing nucleosome assembly at centromere|cell division|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		TTTGGGGAGTAAAGTCAATTG	0.289													---	26	---	---	31	---					
MSH3	4437	broad.mit.edu	37	5	80160742	80160743	+	Frame_Shift_Ins	INS	-	GAAA	GAAA			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr5:80160742_80160743insGAAA	uc003kgz.3	+	21	3364_3365	c.3111_3112insGAAA	c.(3109-3114)gatgaafs	p.D1037fs		NM_002439	NP_002430	P20585	MSH3_HUMAN	Homo sapiens mutS homolog 3 (E. coli) (MSH3), mRNA.	1037					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|Y-form DNA binding|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TCAGTGAGGATGAAAGCAAACT	0.396								Mismatch excision repair (MMR)					---	129	---	---	38	---					
SLC26A8	116369	broad.mit.edu	37	6	35923086	35923086	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:35923086delT	uc003olm.3	-	16	2186	c.2075delA	c.(2074-2076)aacfs	p.N692fs	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Frame_Shift_Del_p.N274fs|SLC26A8_uc003oll.3_Frame_Shift_Del_p.N587fs|SLC26A8_uc003oln.3_Frame_Shift_Del_p.N692fs	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	692	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGGTGAGCTGTTTCTTGATGA	0.507													---	64	---	---	45	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	-	-	rs60664426		TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:42989414_42989419delGCCGGG	uc003otp.1	+	0	30_35	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	14					rRNA processing|ribosomal small subunit biogenesis	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													---	4	---	---	3	---					
UFL1	23376	broad.mit.edu	37	6	96996102	96996102	+	Frame_Shift_Del	DEL	C	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr6:96996102delC	uc003por.3	+	12	1513	c.1465delC	c.(1465-1467)cacfs	p.H489fs	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	489					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										TTTAAGAAAACACATACAAGA	0.308													---	19	---	---	17	---					
TNRC18	84629	broad.mit.edu	37	7	5396802	5396803	+	Frame_Shift_Ins	INS	-	G	G			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:5396802_5396803insG	uc003soi.4	-	15	5287_5288	c.4938_4939insC	c.(4936-4941)ttcaagfs	p.F1646fs	TNRC18_uc003soj.3_Frame_Shift_Ins_p.F28fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1646							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCGAAAACTTGAAGGGCGACT	0.559													---	9	---	---	6	---					
CLIP2	7461	broad.mit.edu	37	7	73790237	73790239	+	In_Frame_Del	DEL	GTC	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr7:73790237_73790239delGTC	uc003uam.3	+	9	1833_1835	c.1506_1508delGTC	c.(1504-1509)aagtcg>aag	p.S503del	CLIP2_uc003uan.3_In_Frame_Del_p.S468del|CLIP2_uc003uao.3_5'UTR	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	503						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCCGAGAAGTCGCGCGTGCTG	0.670													---	9	---	---	6	---					
NCOA2	10499	broad.mit.edu	37	8	71039066	71039067	+	Frame_Shift_Ins	INS	-	AAAC	AAAC			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr8:71039066_71039067insAAAC	uc003xyn.1	-	18	4059_4060	c.3897_3898insGTTT	c.(3895-3900)tttccafs	p.F1299fs	NCOA2_uc011lfb.1_Frame_Shift_Ins_p.F387fs	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1299					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GGAGGAAATGGAAACTGCTGTG	0.530			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								---	40	---	---	11	---					
FAM208B	54906	broad.mit.edu	37	10	5790239	5790239	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr10:5790239delT	uc001iij.3	+	14	5480	c.4855delT	c.(4855-4857)tttfs	p.F1619fs	FAM208B_uc001iik.3_Frame_Shift_Del_p.F463fs	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1619																	GAACCATCTCTTTCCCGGTGA	0.453													---	105	---	---	29	---					
UEVLD	55293	broad.mit.edu	37	11	18568448	18568448	+	Frame_Shift_Del	DEL	G	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:18568448delG	uc001mot.3	-	7	945	c.865delC	c.(865-867)ctgfs	p.L289fs	UEVLD_uc001mou.3_Frame_Shift_Del_p.L289fs|UEVLD_uc010rde.2_Frame_Shift_Del_p.L159fs|UEVLD_uc010rdf.2_Frame_Shift_Del_p.L267fs|UEVLD_uc010rdg.2_Frame_Shift_Del_p.L159fs|UEVLD_uc001mov.3_Frame_Shift_Del_p.L267fs	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	289					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						GCAACGAGCAGGACACTGTGT	0.403													---	65	---	---	35	---					
LGR4	55366	broad.mit.edu	37	11	27412675	27412676	+	In_Frame_Ins	INS	-	AAG	AAG			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr11:27412675_27412676insAAG	uc001mrj.4	-	3	851_852	c.366_367insCTT	c.(364-369)insCTT	p.122_123insL	LGR4_uc001mrk.4_In_Frame_Ins_p.98_99insL	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	122						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CGAATGGCTTCACTGGGTACTG	0.366													---	63	---	---	21	---					
KRT84	3890	broad.mit.edu	37	12	52771821	52771822	+	Frame_Shift_Ins	INS	-	TA	TA			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:52771821_52771822insTA	uc001sah.1	-	8	1847_1848	c.1799_1800insTA	c.(1798-1800)tacfs	p.Y600fs		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	600	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGGCTCTCAGTACTTGGTCCG	0.688													---	13	---	---	8	---					
KRT76	51350	broad.mit.edu	37	12	53162772	53162773	+	In_Frame_Ins	INS	-	GCT	GCT	rs1464423	by1000genomes	TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr12:53162772_53162773insGCT	uc001sax.3	-	8	1695_1696	c.1641_1642insAGC	c.(1639-1644)insAGC	p.547_548insS		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	547	Tail.				cytoskeleton organization	keratin filament	structural molecule activity	p.S547_G548insS(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						actccatagccactgctgctgc	0.639													---	5	---	---	11	---					
AP1G1	164	broad.mit.edu	37	16	71768532	71768533	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr16:71768532_71768533insA	uc010cgg.3	-	21	2660_2661	c.2346_2347insT	c.(2344-2349)attaaafs	p.I782fs	AP1G1_uc021tkz.1_Frame_Shift_Ins_p.I570fs|AP1G1_uc002fbb.3_Frame_Shift_Ins_p.I805fs|AP1G1_uc002faz.3_Frame_Shift_Ins_p.I199fs|AP1G1_uc021tky.1_Frame_Shift_Ins_p.I785fs	NM_001128	NP_001119	O43747	AP1G1_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 1 subunit (AP1G1), transcript variant 2, mRNA.	782	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TTCAGAACTTTAATGACTTGTG	0.450													---	485	---	---	8	---					
OR7E24	26648	broad.mit.edu	37	19	9361741	9361741	+	Frame_Shift_Del	DEL	T	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr19:9361741delT	uc002mlb.1	+	0	22	c.22delT	c.(22-24)tttfs	p.F8fs		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TCCAATTCTCTTTTTTTTTTT	0.388													---	9	---	---	4	---					
TGIF2	60436	broad.mit.edu	37	20	35219568	35219569	+	Frame_Shift_Ins	INS	-	A	A			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr20:35219568_35219569insA	uc021wcv.1	+	2	662_663	c.448_449insA	c.(448-450)gagfs	p.E150fs	TGIF2_uc021wcu.1_Frame_Shift_Ins_p.E150fs|TGIF2_uc002xfn.3_Frame_Shift_Ins_p.E150fs|TGIF2_uc021wcw.1_Frame_Shift_Ins_p.E150fs|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	150	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CCCACGTGGGGAGCTGGAGTCT	0.629													---	63	---	---	42	---					
NF2	4771	broad.mit.edu	37	22	30069467	30069470	+	Frame_Shift_Del	DEL	AGAG	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chr22:30069467_30069470delAGAG	uc003age.4	+	11	1775_1778	c.1332_1335delAGAG	c.(1330-1335)tcagagfs	p.S444fs	NF2_uc003afy.4_Frame_Shift_Del_p.S444fs|NF2_uc003afz.4_Frame_Shift_Del_p.S361fs|NF2_uc003agf.4_Frame_Shift_Del_p.S444fs|NF2_uc003agb.4_Frame_Shift_Del_p.S367fs|NF2_uc003agc.4_Frame_Shift_Del_p.S406fs|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Frame_Shift_Del_p.S444fs|NF2_uc003aga.4_Frame_Shift_Del_p.S402fs|NF2_uc003agh.4_Frame_Shift_Del_p.S403fs|NF2_uc003agi.4_Frame_Shift_Del_p.S361fs|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Frame_Shift_Del_p.S108fs|NF2_uc011akq.2_Frame_Shift_Del_p.S70fs	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	444	Glu-rich.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.E445fs*9(6)|p.?(4)|p.R446fs*48(1)|p.S444*(1)|p.R446fs*49(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTGAGGAGTCAGAGAGGAGGTGAG	0.637			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				---	3	---	---	7	---					
STAG2	10735	broad.mit.edu	37	X	123211859	123211862	+	Frame_Shift_Del	DEL	AGAT	-	-			TCGA-A4-8098-01A-11D-2396-08	TCGA-A4-8098-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c049bb8-3842-44e4-9961-ea59a3f347de	aea72058-4351-46a9-a314-5d54f681d649	g.chrX:123211859_123211862delAGAT	uc004eua.3	+	26	3130_3133	c.2726_2729delAGAT	c.(2725-2730)cagatafs	p.Q909fs	STAG2_uc004etz.4_Frame_Shift_Del_p.Q909fs|STAG2_uc004eub.3_Frame_Shift_Del_p.Q909fs|STAG2_uc004euc.3_Frame_Shift_Del_p.Q909fs|STAG2_uc004eud.3_Frame_Shift_Del_p.Q909fs|STAG2_uc004eue.3_Frame_Shift_Del_p.Q909fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	909					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAAACAAGGCAGATAGACAAAATT	0.314													---	13	---	---	45	---					
