Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ABCA4	24	broad.mit.edu	37	1	94486874	94486874	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:94486874C>T	ENST00000370225.3	-	35	5026	c.4940G>A	c.(4939-4941)aGg>aAg	p.R1647K		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1647					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CTCGGGGCTCCTGTCCTTAGG	0.557000													47	152					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6302373	6302373	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:6302373C>A	ENST00000344683.5	+	8	1206	c.1130C>A	c.(1129-1131)aCc>aAc	p.T377N	MCPH1_ENST00000522905.1_Missense_Mutation_p.T329N|MCPH1_ENST00000519480.1_Missense_Mutation_p.T377N	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	377						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGAGGAGCACCAGGAGATCT	0.532000													8	66					0.00448238	0.00450079	1	1	0
PPP1R42	286187	broad.mit.edu	37	8	67929932	67929932	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:67929932G>A	ENST00000522909.1	-	2	235	c.51C>T	c.(49-51)ccC>ccT	p.P17P	PPP1R42_ENST00000517834.1_5'UTR|PPP1R42_ENST00000324682.5_Silent_p.P17P			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	17																	CTTCTTTTCGGGGTTTAAGAT	0.323000													12	54					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41834629	41834629	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:41834629G>A	ENST00000396930.3	-	8	1803	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	KAT6A_ENST00000406337.1_Silent_p.S420S|KAT6A_ENST00000265713.2_Silent_p.S420S|KAT6A_ENST00000485568.1_Silent_p.S420S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	420	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GCCCATCAGGGGAAGGGGTAA	0.478000													31	95					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41074187	41074187	+	Splice_Site	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:41074187G>A	ENST00000352632.3	+	31	7041	c.6956_splice	c.e31+1	p.G2319_splice	SPTBN4_ENST00000598249.1_Splice_Site_p.G2319_splice|SPTBN4_ENST00000392025.1_Splice_Site_p.G1062_splice			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2319					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGGTCAAGGGGTGAGGTGC	0.632000													4	10					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790642	38790642	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:38790642G>A	ENST00000359357.3	+	25	3155	c.2901G>A	c.(2899-2901)agG>agA	p.R967R	DNAH8_ENST00000441566.1_Silent_p.R967R|DNAH8_ENST00000449981.2_Silent_p.R1184R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCCTGCGAGGAAGCTGAAGA	0.363000													8	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584840	179584840	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:179584840C>T	ENST00000589042.1	-	81	23753	c.23529G>A	c.(23527-23529)agG>agA	p.R7843R	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Silent_p.R7526R|TTN_ENST00000342992.6_Silent_p.R6599R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7526	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATGAAATCCTGGTATTTT	0.428000													22	62					0	0	1	0	0
SLC5A12	159963	broad.mit.edu	37	11	26695059	26695059	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:26695059C>T	ENST00000396005.3	-	14	1906	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	533					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GGTTGAATATCCTCACCTCTT	0.368000													42	112					0	0	1	0	0
EBF2	64641	broad.mit.edu	37	8	25718890	25718890	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:25718890C>T	ENST00000520164.1	-	12	1636	c.1098_splice	c.e12-1	p.E367_splice	EBF2_ENST00000535548.1_Splice_Site_p.E98_splice|EBF2_ENST00000408929.3_Splice_Site_p.E219_splice	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	367					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.E367*(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AACAGCATCTCCTGGAAAATA	0.403000													25	80					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68040338	68040338	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:68040338C>T	ENST00000433211.1	-	13	1948	c.1774G>A	c.(1774-1776)Gcc>Acc	p.A592T	CTNNA3_ENST00000373744.4_Missense_Mutation_p.A592T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	592					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TTGCTTAAGGCTTCCAAGGCA	0.318000													20	82					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96818254	96818254	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:96818254G>A	ENST00000371270.3	-	5	751	c.657C>T	c.(655-657)ttC>ttT	p.F219F	CYP2C8_ENST00000535898.1_Silent_p.F117F|CYP2C8_ENST00000539050.1_Silent_p.F133F	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	219					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TGAGTAGAGGGAAATTATTGC	0.313000													11	30					0	0	1	0	0
TNRC18	84629	broad.mit.edu	37	7	5401280	5401280	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:5401280G>A	ENST00000399537.4	-	14	4954	c.4606C>T	c.(4606-4608)Ccg>Tcg	p.P1536S	TNRC18_ENST00000430969.1_Missense_Mutation_p.P1536S			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1536							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)		AGGGCGCTCGGGGCGTGGGTC	0.652000													6	7					0	0	1	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701850	8701850	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:8701850G>A	ENST00000329805.4	-	1	817	c.589C>T	c.(589-591)Cat>Tat	p.H197Y		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	197						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCCCAGGGATGATCTTTCAGC	0.562000													38	140					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10012300	10012300	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:10012300C>T	ENST00000245046.2	-	6	998	c.540G>A	c.(538-540)cgG>cgA	p.R180R	EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		AGTAAATGCTCCGAAGCCCAA	0.398000													43	108					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155707951	155707951	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:155707951C>T	ENST00000368336.5	+	13	1239	c.1115C>T	c.(1114-1116)cCt>cTt	p.P372L	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.P372L|DAP3_ENST00000535183.1_Missense_Mutation_p.P331L|DAP3_ENST00000421487.2_Missense_Mutation_p.P338L	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	372					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ATTTTAGCTCCTACAGAAGAA	0.493000													25	46					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41782196	41782196	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:41782196C>T	ENST00000318588.9	-	1	91	c.46G>A	c.(46-48)Gag>Aag	p.E16K	CASK_ENST00000378158.1_Missense_Mutation_p.E16K|CASK_ENST00000421587.2_Missense_Mutation_p.E16K|CASK_ENST00000378166.4_Missense_Mutation_p.E16K|CASK_ENST00000378163.1_Missense_Mutation_p.E16K|CASK_ENST00000378154.1_Missense_Mutation_p.E16K|CASK_ENST00000442742.2_Missense_Mutation_p.E16K|CASK_ENST00000361962.4_Missense_Mutation_p.E16K			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	16	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CCGATCACCTCGCACAGCTCG	0.652000													20	58					0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021487	132021487	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:132021487C>T	ENST00000356920.5	+	15	2553	c.2459C>T	c.(2458-2460)aCc>aTc	p.T820I	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	820	Actin-like.						ATP binding										GAGAAGATGACCCAGATCATG	0.612000													37	213					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100350312	100350312	+	RNA	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:100350312G>A	ENST00000542585.1	+	0	2732				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATCCCCACAGAAAAACCCAC	0.493000													105	166					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390711	61390711	+	RNA	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:61390711C>T	ENST00000544088.1	+	0	1319				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGCCAAAAAGCTGTTCACACC	0.488000													10	34					0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878224	5878224	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:5878224C>T	ENST00000537935.1	-	1	740	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTCGAGCTTCCCAGGAGGGC	0.428000													31	72					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8120374	8120374	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:8120374C>T	ENST00000305253.4	+	10	1474	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	TUB_ENST00000534099.1_Silent_p.S362S|TUB_ENST00000299506.2_Silent_p.S356S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	356					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CCTCATCCTCCACTTTGGAAA	0.478000											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	100					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3227796	3227796	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:3227796G>A	ENST00000217939.6	-	7	8602	c.8448C>T	c.(8446-8448)ctC>ctT	p.L2816L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2816	Ig-like C2-type 12.					extracellular region		p.L2816L(3)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGTCACTGCCGAGAATGTTTT	0.468000													8	42					0	0	1	0	0
KDM8	79831	broad.mit.edu	37	16	27231911	27231911	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:27231911G>A	ENST00000286096.4	+	8	1284	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	KDM8_ENST00000380948.2_Missense_Mutation_p.E175K|KDM8_ENST00000567785.1_3'UTR|KDM8_ENST00000568965.1_Missense_Mutation_p.E175K|KDM8_ENST00000441782.2_Missense_Mutation_p.E409K	NM_024773.2	NP_079049.2	Q8N371	KDM8_HUMAN	lysine (K)-specific demethylase 8	371	JmjC.				G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										TCCCGACCTGGAAAAGTTCCC	0.567000													45	147					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183824092	183824092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:183824092G>A	ENST00000415389.2	+	8	1568	c.1102G>A	c.(1102-1104)Gaa>Aaa	p.E368K	HTR3E_ENST00000335304.2_Missense_Mutation_p.E383K|HTR3E_ENST00000436361.2_Missense_Mutation_p.E368K|HTR3E_ENST00000440596.2_Missense_Mutation_p.E394K|HTR3E_ENST00000425359.2_Missense_Mutation_p.E353K	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	368						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GCCCCAGAAGGAAAATAAGGG	0.667000													12	44					0	0	1	0	0
MIR371B	100616185	broad.mit.edu	37	19	54291150	54291150	+	RNA	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:54291150C>T	ENST00000595160.1	-	0	273				MIR372_ENST00000362225.1_RNA	NR_029864.1|NR_029865.1|NR_039909.1																						CCCTGTGGGCCTCAAATGTGG	0.562000													18	55					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155243505	155243505	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:155243505C>T	ENST00000357232.3	-	13	2788	c.2789G>A	c.(2788-2790)gGa>gAa	p.G930E		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	930	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACTGCCTGTCCTTGAAGAGG	0.368000													13	52					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655262	38655262	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:38655262C>T	ENST00000443581.1	-	6	868	c.675G>A	c.(673-675)cgG>cgA	p.R225R	SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Silent_p.R225R|SCN5A_ENST00000423572.2_Silent_p.R225R|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Silent_p.R225R	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	225			R -> Q (in LQT3).|R -> W (in PFHB1A).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTTTCAGGGCCCGGAGGACTC	0.493000													3	11					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752258	247752258	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:247752258G>A	ENST00000320065.1	+	1	597	c.597G>A	c.(595-597)gaG>gaA	p.E199E	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CGTTTAACGAGGCTGAGCTTT	0.522000													36	156					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57367775	57367775	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:57367775C>T	ENST00000374900.4	+	5	814	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	232						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TGGTAGCATTCGAATGCCTGC	0.423000										HNSCC(52;0.14)			65	218					0	0	1	0	0
C12orf60	144608	broad.mit.edu	37	12	14976231	14976231	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:14976231C>T	ENST00000330828.2	+	2	566	c.362C>T	c.(361-363)cCa>cTa	p.P121L	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	121										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						GCCCATACGCCAGTCATCATC	0.428000													33	124					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106307504	106307504	+	RNA	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:106307504C>T	ENST00000390556.2	-	0	533																											AGCCACAGGTCCTGCACTGCA	0.642000													9	30					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151859395	151859395	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:151859395G>A	ENST00000367290.5	+	3	491	c.402G>A	c.(400-402)caG>caA	p.Q134Q	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Silent_p.Q134Q			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	134																	AGGAGAACCAGGAATTAAAGA	0.353000													12	42					0	0	1	0	0
SLC30A3	7781	broad.mit.edu	37	2	27479339	27479339	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:27479339C>T	ENST00000233535.4	-	7	1285	c.933G>A	c.(931-933)tcG>tcA	p.S311S	SLC30A3_ENST00000447008.2_Silent_p.S306S	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	311					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCTGGCACCGACAACAGCG	0.607000													17	62					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57221573	57221573	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:57221573G>A	ENST00000343433.6	-	7	1206	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	376										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						ACTCACCTAGGTTCTGGATAG	0.393000													19	100					0	0	1	0	0
VTCN1	79679	broad.mit.edu	37	1	117699461	117699461	+	Silent	SNP	A	A	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:117699461A>T	ENST00000369458.3	-	3	258	c.180T>A	c.(178-180)ccT>ccA	p.P60P	VTCN1_ENST00000359008.4_Silent_p.P63P|VTCN1_ENST00000539893.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000463461.1_5'UTR	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	60	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		GTTTGATGTCAGGTTCAAAAG	0.488000													29	69					0	0	1	0	0
ZNF20	7568	broad.mit.edu	37	19	12244209	12244209	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:12244209G>A	ENST00000334213.5	-	4	1016	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZNF625-ZNF20_ENST00000430024.1_3'UTR|ZNF20_ENST00000600335.1_Intron	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						TAGGAAAACTGAATGCATTCC	0.408000													27	85					0	0	1	0	0
OR9K2	441639	broad.mit.edu	37	12	55523663	55523663	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:55523663C>T	ENST00000305377.5	+	1	199	c.111C>T	c.(109-111)ttC>ttT	p.F37F		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGACTGACTTCATTCTTGCAG	0.453000													39	132					0	0	1	0	0
PELI1	57162	broad.mit.edu	37	2	64322010	64322010	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:64322010G>A	ENST00000358912.4	-	7	1525	c.1083C>T	c.(1081-1083)acC>acT	p.T361T		NM_020651.3	NP_065702.2	Q96FA3	PELI1_HUMAN	pellino E3 ubiquitin protein ligase 1	361					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						TAAACGCATGGGTTGGAGGGC	0.498000													25	102					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66449401	66449401	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:66449401C>T	ENST00000383703.3	-	11	1900	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.E409K			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	409						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CACAGGTGCTCCAGGCCTTCC	0.517000													3	40					0	0	1	0	0
ACY3	91703	broad.mit.edu	37	11	67412608	67412608	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:67412608G>A	ENST00000255082.3	-	6	712	c.542C>T	c.(541-543)cCc>cTc	p.P181L	ACY3_ENST00000529256.1_Missense_Mutation_p.P60L	NM_080658.1	NP_542389.1	Q96HD9	ACY3_HUMAN	aspartoacylase (aminocyclase) 3	181					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGTGGCTGGGGGCCCAGCTC	0.607000													38	122					0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95053972	95053972	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:95053972C>T	ENST00000329597.7	+	3	483	c.273C>T	c.(271-273)atC>atT	p.I91I	SERPINA5_ENST00000554276.1_Silent_p.I91I|SERPINA5_ENST00000553780.1_Silent_p.I91I|SERPINA5_ENST00000554866.1_Silent_p.I91I	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	91					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	AGATGCAGATCCTGGAGGGCC	0.602000													9	39					0	0	1	0	0
LRRN2	10446	broad.mit.edu	37	1	204588334	204588334	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:204588334G>A	ENST00000367175.1	-	1	2999	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	LRRN2_ENST00000367177.3_Missense_Mutation_p.L263F|LRRN2_ENST00000367176.3_Missense_Mutation_p.L263F			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	263					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGAACTTGAGCCCGGGCACC	0.617000													28	118					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107698358	107698358	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:107698358G>A	ENST00000388781.3	-	24	3381	c.3298C>T	c.(3298-3300)Ccg>Tcg	p.P1100S	LAMB4_ENST00000388780.3_Missense_Mutation_p.P1100S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P1100S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1100	Laminin EGF-like 12.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AATTTACACGGACACTGGCCT	0.413000													11	29					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648909	130648909	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:130648909C>T	ENST00000539839.1	+	1	1906	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	FZD10_ENST00000229030.4_Silent_p.I474I	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACTGGAAGATCCTGGCGGCGC	0.557000													12	36					0	0	1	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332412	22332412	+	RNA	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:22332412G>A	ENST00000558896.1	+	0	219																											TTGGCTTGATGAAAAAAAACA	0.318000													15	85					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169506044	169506044	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:169506044G>A	ENST00000256935.8	+	49	5140	c.5060G>A	c.(5059-5061)gGg>gAg	p.G1687E	DOCK2_ENST00000540750.1_Missense_Mutation_p.G748E|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.G1179E	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1687					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTCCCCGGGGAGCACCCTG	0.567000													29	108					0	0	1	0	0
TSC1	7248	broad.mit.edu	37	9	135779817	135779817	+	Silent	SNP	G	G	A	rs118203618		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:135779817G>A	ENST00000298552.3	-	16	2243	c.2022C>T	c.(2020-2022)gtC>gtT	p.V674V	TSC1_ENST00000545250.1_Silent_p.V623V|TSC1_ENST00000440111.2_Silent_p.V674V	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	674					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GGGTCCAGTCGACAGACTTGC	0.443000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				13	36					0	0	1	0	0
RGS5	8490	broad.mit.edu	37	1	163122442	163122442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:163122442C>T	ENST00000313961.5	-	4	559	c.282G>A	c.(280-282)tgG>tgA	p.W94*	RGS5_ENST00000527988.1_5'UTR|RGS5_ENST00000367903.3_Nonsense_Mutation_p.W114*|RGS5_ENST00000530507.1_Nonsense_Mutation_p.W94*|RGS5_ENST00000534288.1_5'UTR	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	94	RGS.				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			CACAGGCAATCCAGAACTCAA	0.408000													52	282					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45150643	45150643	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:45150643C>T	ENST00000425690.3	+	2	527	c.228C>T	c.(226-228)gcC>gcT	p.A76A	PVR_ENST00000344956.4_Silent_p.A76A|PVR_ENST00000403059.4_Silent_p.A76A|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Silent_p.A76A	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	76	Ig-like V-type.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GCAGCATGGCCGTCTTCCACC	0.622000													10	28					0	0	1	0	0
TLDC1	57707	broad.mit.edu	37	16	84520283	84520283	+	Silent	SNP	G	G	A	rs145452661	byFrequency	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:84520283G>A	ENST00000343629.6	-	5	1094	c.912C>T	c.(910-912)ttC>ttT	p.F304F	TLDC1_ENST00000535580.1_Silent_p.F277F	NM_020947.3	NP_065998.3			TBC/LysM-associated domain containing 1																		CAAACCCACCGAACACATGCT	0.572000													28	85					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19051703	19051703	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:19051703C>T	ENST00000421369.3	+	9	1500	c.942C>T	c.(940-942)atC>atT	p.I314I	TMC7_ENST00000304381.5_Silent_p.I424I|TMC7_ENST00000569532.1_Silent_p.I424I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	424						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						CCCCAATGATCTTTGCCAAGA	0.438000													28	99					0	0	1	0	0
TBX4	9496	broad.mit.edu	37	17	59556119	59556119	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:59556119G>A	ENST00000393853.4	+	6	844	c.681G>A	c.(679-681)gtG>gtA	p.V227V	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.V227V			P57082	TBX4_HUMAN	T-box 4	227					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TCATCTCTGTGACCTCCTACC	0.557000													42	145					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151747265	151747265	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:151747265G>A	ENST00000368822.1	-	12	2187	c.1554C>T	c.(1552-1554)gcC>gcT	p.A518A	TDRKH_ENST00000368823.1_Silent_p.A514A|TDRKH_ENST00000368824.3_Silent_p.A518A|TDRKH_ENST00000368825.3_Silent_p.A473A|TDRKH_ENST00000368827.6_Silent_p.A518A|TDRKH_ENST00000440583.2_Silent_p.A294A|TDRKH_ENST00000458431.2_Silent_p.A518A			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	518							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTGAGAGAGGCATCTGTTT	0.463000													31	139					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38790641	38790641	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:38790641G>A	ENST00000359357.3	+	25	3154	c.2900G>A	c.(2899-2901)aGg>aAg	p.R967K	DNAH8_ENST00000441566.1_Missense_Mutation_p.R967K|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1184K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCCTGCGAGGAAGCTGAAG	0.358000													8	33					0	0	1	0	0
RSPO2	340419	broad.mit.edu	37	8	109001381	109001381	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:109001381G>A	ENST00000276659.5	-	3	806	c.186C>T	c.(184-186)ttC>ttT	p.F62F	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	62					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			CTCTTCGAAGGAAGAAGAACA	0.473000													24	77					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402698	248402698	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:248402698G>A	ENST00000306687.1	+	1	468	c.468G>A	c.(466-468)ggG>ggA	p.G156G		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCTTGATGGGATCATAGTGC	0.458000													71	127					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140724797	140724797	+	Silent	SNP	T	T	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:140724797T>C	ENST00000253812.6	+	1	1197	c.1197T>C	c.(1195-1197)gaT>gaC	p.D399D	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCAATAGATCAATATTACC	0.458000													26	69					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	45097602	45097602	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:45097602C>T	ENST00000429094.2	-	12	1729	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	NELL2_ENST00000395487.2_Missense_Mutation_p.E408K|NELL2_ENST00000549027.1_Missense_Mutation_p.E408K|NELL2_ENST00000333837.4_Missense_Mutation_p.E432K|NELL2_ENST00000437801.2_Missense_Mutation_p.E459K|NELL2_ENST00000551601.1_Missense_Mutation_p.E408K|NELL2_ENST00000452445.2_Missense_Mutation_p.E409K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	409	EGF-like 1.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ATGGAATTCTCCATGCAGTTA	0.368000													15	69					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86959203	86959203	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:86959203C>T	ENST00000234701.3	+	11	1952	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	CLCA1_ENST00000394711.1_Missense_Mutation_p.P534L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	534					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCTGGGATCCCAGTGGACAG	0.488000													22	58					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163325181	163325181	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:163325181G>A	ENST00000271452.3	+	14	1596	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	NUF2_ENST00000524800.1_Silent_p.K392K|NUF2_ENST00000367900.3_Silent_p.K439K	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	439	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GTATTGAAAAGGCAGCAGAGG	0.338000													53	77					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149834	34149834	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:34149834A>T	ENST00000346193.3	-	1	613	c.562T>A	c.(562-564)Tgc>Agc	p.C188S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	188	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTTCAGGCAGAATTCCCCA	0.602000													31	103					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055424	75055424	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:75055424C>T	ENST00000326665.5	-	12	2285	c.2067G>A	c.(2065-2067)ggG>ggA	p.G689G	C1orf173_ENST00000420661.2_Silent_p.G492G|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	689	Glu-rich.							p.G689G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AAACATGTTTCCCGGACTTCT	0.458000													75	204					0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11436131	11436131	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:11436131C>T	ENST00000222120.3	-	5	863	c.603G>A	c.(601-603)ggG>ggA	p.G201G	TSPAN16_ENST00000316737.1_Intron|RAB3D_ENST00000589655.1_Silent_p.G201G	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	201					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						CCGGGCCTTTCCCGTTGCTGC	0.642000													10	57					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41143073	41143073	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:41143073G>C	ENST00000263413.3	-	18	2923	c.2659C>G	c.(2659-2661)Cag>Gag	p.Q887E	C6_ENST00000337836.5_Missense_Mutation_p.Q887E	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	887	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGAAGCACTGTGGGGGCAAT	0.433000													22	76					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170096205	170096205	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:170096205G>A	ENST00000263816.3	-	26	4411	c.4126C>T	c.(4126-4128)Cca>Tca	p.P1376S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1376	EGF-like 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATCCCAATGGACATAGGCAT	0.418000													24	109					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200574995	200574995	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:200574995G>A	ENST00000367350.4	-	7	2073	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	545	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATCTTACCTGGATATCAGCGT	0.249000													52	65					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177052795	177052795	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:177052795C>T	ENST00000393643.2	+	7	1256	c.1004C>T	c.(1003-1005)tCt>tTt	p.S335F	WDR17_ENST00000507824.2_Missense_Mutation_p.S342F|WDR17_ENST00000280190.4_Missense_Mutation_p.S359F|WDR17_ENST00000508596.1_Missense_Mutation_p.S335F	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	359								p.S359Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAAGCATTTTCTCTTCCTCCT	0.403000													43	199					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25621442	25621442	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:25621442G>A	ENST00000262394.2	+	1	337	c.21G>A	c.(19-21)agG>agA	p.R7R	WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000348811.2_Silent_p.R7R|WSB1_ENST00000581185.1_Silent_p.R7R|WSB1_ENST00000579733.1_Silent_p.R7R|WSB1_ENST00000583193.1_Silent_p.R7R|WSB1_ENST00000427287.2_Silent_p.R7R	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	7					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TTCCCCCGAGGGTCAACGAGA	0.627000													26	170					0	0	1	0	0
GRIFIN	402635	broad.mit.edu	37	7	2515442	2515442	+	RNA	SNP	A	A	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:2515442A>T	ENST00000417742.1	-	0	270									galectin-related inter-fiber protein														Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;3.23e-14)		CCCCGTCTCCAACAAGAAGTT	0.657000													4	17					0	0	1	0	0
FHOD1	29109	broad.mit.edu	37	16	67270559	67270559	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:67270559G>A	ENST00000258201.4	-	11	1467	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	FHOD1_ENST00000567687.1_Intron	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	407	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AGGGCCCACAGGGCTGGAGGC	0.657000													9	19					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148716109	148716109	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:148716109G>A	ENST00000286091.4	-	3	682	c.450C>T	c.(448-450)gaC>gaT	p.D150D		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	150	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGCCCTCGTAGTCTACAGCCT	0.537000													18	66					0	0	1	0	0
PSMB11	122706	broad.mit.edu	37	14	23511578	23511578	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:23511578C>T	ENST00000408907.2	+	1	203	c.144C>T	c.(142-144)caC>caT	p.H48H		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		GACTGGCCCACGGCACCACCA	0.642000													22	116					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123331	81123331	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:81123331C>T	ENST00000339711.4	+	10	1946	c.715C>T	c.(715-717)Ccc>Tcc	p.P239S	PRDM8_ENST00000415738.2_Missense_Mutation_p.P239S|PRDM8_ENST00000504452.1_Missense_Mutation_p.P239S	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	239	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CTACCCATCCCCCTCCCCGGA	0.667000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	55					0	0	1	0	0
PHF8	23133	broad.mit.edu	37	X	54011462	54011462	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:54011462C>T	ENST00000338154.6	-	18	2832	c.2328G>A	c.(2326-2328)ggG>ggA	p.G776G	PHF8_ENST00000357988.5_Silent_p.G812G|PHF8_ENST00000338946.6_Silent_p.G675G|PHF8_ENST00000322659.8_Silent_p.G759G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	812	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGGGCCGCTTCCCTGGGGTGC	0.627000													28	70					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62265600	62265600	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:62265600G>A	ENST00000258991.3	-	5	2457	c.2373C>T	c.(2371-2373)gtC>gtT	p.V791V	TEX2_ENST00000584379.1_Silent_p.V784V|TEX2_ENST00000583097.1_Silent_p.V784V			Q8IWB9	TEX2_HUMAN	testis expressed 2	784					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTTCCTGGGGGACACACCTGC	0.617000													23	88					0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48688025	48688025	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:48688025C>T	ENST00000338270.1	+	1	743	c.492C>T	c.(490-492)gcC>gcT	p.A164A		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	164					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						ATGCTCATGCCGCTGCTGCAG	0.647000													23	44					0	0	1	0	0
STK11	6794	broad.mit.edu	37	19	1220465	1220465	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:1220465C>T	ENST00000326873.7	+	4	1731	c.558C>T	c.(556-558)acC>acT	p.T186T		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	186	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTCACCACCGGTGGCACCC	0.662000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			9	16					0	0	1	0	0
LCE3D	84648	broad.mit.edu	37	1	152552408	152552408	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:152552408G>A	ENST00000368787.3	-	2	61	c.5C>T	c.(4-6)tCc>tTc	p.S2F		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	2					keratinization					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		CTGCTGGCAGGACATCTTGGC	0.542000													35	190					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126710273	126710273	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:126710273C>T	ENST00000251772.4	+	2	1241	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	PLXNA1_ENST00000393409.2_Missense_Mutation_p.P414L			Q9UIW2	PLXA1_HUMAN	plexin A1	414	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TTCAACCAGCCCCTGGGGGGC	0.657000													14	57					0	0	1	0	0
SH3GL2	6456	broad.mit.edu	37	9	17789459	17789459	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:17789459C>T	ENST00000380607.4	+	6	655	c.535C>T	c.(535-537)Ccg>Tcg	p.P179S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.P132S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	179	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGGCAAGATTCCGGATGAAGA	0.428000													40	41					0	0	1	0	0
XKR3	150165	broad.mit.edu	37	22	17288837	17288837	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr22:17288837G>A	ENST00000331428.5	-	2	229	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	43						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCACAGTAGAGAACAGTTGAG	0.373000													50	59					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38752383	38752383	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:38752383G>A	ENST00000449082.2	-	23	4094	c.4095C>T	c.(4093-4095)acC>acT	p.T1365T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1365					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCTTTAAAGGTTGCCTGGA	0.552000													12	37					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120827513	120827513	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:120827513C>A	ENST00000527524.2	+	16	2012	c.1725C>A	c.(1723-1725)agC>agA	p.S575R	GRIK4_ENST00000438375.2_Missense_Mutation_p.S575R			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	575					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGTGGTACAGCCCACACCCAT	0.617000													32	94					2.1956e-27	2.25083e-27	1	1	0
SLC25A26	115286	broad.mit.edu	37	3	66428160	66428160	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:66428160G>A	ENST00000354883.6	+	11	1482	c.754G>A	c.(754-756)Ggt>Agt	p.G252S	SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000336733.5_Missense_Mutation_p.G164S			Q70HW3	SAMC_HUMAN	solute carrier family 25 (S-adenosylmethionine carrier), member 26	252						integral to membrane|mitochondrial inner membrane|nucleus	S-adenosylmethionine transmembrane transporter activity			endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1)	8		Lung NSC(201;0.00774)		BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648)		CAGTCTGGGAGGTTTCATCTT	0.448000													65	183					0	0	1	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453493	22453493	+	RNA	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr22:22453493G>A	ENST00000390283.2	+	0	285																											ACAAACACTCGCTCTTCTGGG	0.567000													87	109					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28711620	28711620	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:28711620C>T	ENST00000257197.3	-	15	2685	c.2424G>A	c.(2422-2424)caG>caA	p.Q808Q	DSC1_ENST00000257198.5_Silent_p.Q808Q|RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	808					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CAGTATCTCCCTGCCCCACTC	0.493000													25	114					0	0	1	0	0
RNF152	220441	broad.mit.edu	37	18	59483194	59483194	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:59483194C>T	ENST00000312828.3	-	2	1602	c.503G>A	c.(502-504)gGg>gAg	p.G168E		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	168					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				AGTGCACACCCCCGACCAGGT	0.592000													26	107					0	0	1	0	0
OR7E24	26648	broad.mit.edu	37	19	9361752	9361752	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:9361752C>T	ENST00000456448.1	+	1	147	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	11					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						TTTTTTTTTTCCTCAAAAGGT	0.418000													4	24					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46743557	46743557	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:46743557G>A	ENST00000371975.4	+	17	2612	c.1938G>A	c.(1936-1938)gtG>gtA	p.V646V	RAD54L_ENST00000488942.1_3'UTR|RAD54L_ENST00000442598.1_Silent_p.V646V	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	646	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCTGTGTGGTGGATGAGGAGC	0.547000								Direct reversal of damage;Homologous recombination					23	51					0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120118089	120118089	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:120118089G>A	ENST00000332843.2	+	6	534	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	165	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CATCGTGCAGGAAGAGAAGAA	0.458000													13	40					0	0	1	0	0
IPO11	51194	broad.mit.edu	37	5	61826558	61826558	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:61826558C>T	ENST00000325324.6	+	22	2204	c.2035C>T	c.(2035-2037)Cca>Tca	p.P679S	KIF2A_ENST00000509663.2_3'UTR|IPO11_ENST00000409296.3_Missense_Mutation_p.P719S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	679						cytoplasm|nucleus	protein binding	p.P679S(1)|p.P679>?(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GGAAAACAGTCCATGTATTAC	0.318000													16	62					0	0	1	0	0
DOK5	55816	broad.mit.edu	37	20	53205346	53205346	+	Splice_Site	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:53205346G>A	ENST00000262593.5	+	4	759		c.e4+1		DOK5_ENST00000395939.1_Splice_Site	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5								insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GAACAGAGTGGTATGTAAAGA	0.408000													16	38					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18						keratin filament		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627000													7	87					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107834815	107834815	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:107834815C>T	ENST00000328300.6	+	21	1608	c.1364C>T	c.(1363-1365)cCt>cTt	p.P455L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P455L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	455	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GAACCAGGCCCTCCAGGCCCC	0.413000									Alport syndrome with Diffuse Leiomyomatosis				43	190					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419391	419391	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:419391G>A	ENST00000354200.4	-	8	1198	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	351					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				CGATCTTCAGGCCGCAGAAGT	0.567000													52	175					0	0	1	0	0
GABRD	2563	broad.mit.edu	37	1	1960675	1960675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:1960675C>T	ENST00000378585.4	+	7	900	c.817C>T	c.(817-819)Cag>Tag	p.Q273*		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	273						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGGATCAGCCAGGCGGCGGT	0.672000													10	13					0	0	1	0	0
HSCB	150274	broad.mit.edu	37	22	29138096	29138096	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr22:29138096A>G	ENST00000216027.3	+	1	78	c.13A>G	c.(13-15)Aga>Gga	p.R5G	HSCB_ENST00000398941.2_Missense_Mutation_p.R5G|CHEK2_ENST00000544772.1_5'UTR	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	5					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						GTGGCGGGGGAGAGCCGGGGC	0.612000													5	18					0	0	1	0	0
FABP3	2170	broad.mit.edu	37	1	31842265	31842265	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:31842265G>A	ENST00000373713.2	-	2	274	c.213C>T	c.(211-213)ttC>ttT	p.F71F	FABP3_ENST00000497275.1_5'UTR	NM_004102.3	NP_004093.1	P05413	FABPH_HUMAN	fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)	71					negative regulation of cell proliferation					large_intestine(1)|lung(2)|ovary(2)	5		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149)		TTGTCTCATCGAACTCCACCC	0.473000													5	330					0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797769	148797769	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:148797769C>T	ENST00000355220.5	+	5	725	c.623C>T	c.(622-624)tCg>tTg	p.S208L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.S179L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	208						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CCAAGTACCTCGCCTGACCTG	0.498000													39	143					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118638	55118638	+	Missense_Mutation	SNP	A	A	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:55118638A>C	ENST00000414150.2	+	3	317	c.39A>C	c.(37-39)gaA>gaC	p.E13D	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.E13D|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.E13D|MROH7_ENST00000421030.2_Missense_Mutation_p.E13D|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		TCTTCCATGAAGACCCAAAGA	0.587000													22	75					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97526473	97526473	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:97526473C>A	ENST00000305476.5	-	15	2524	c.2392G>T	c.(2392-2394)Gac>Tac	p.D798Y		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	798					muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CCTCCCCGGTCCTCCCCTCCT	0.642000													40	142					1.22674e-20	1.25497e-20	1	1	0
PROX1	5629	broad.mit.edu	37	1	214170911	214170911	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:214170911G>A	ENST00000366958.4	+	2	1641	c.1033G>A	c.(1033-1035)Ggc>Agc	p.G345S	PROX1_ENST00000261454.4_Missense_Mutation_p.G345S|PROX1_ENST00000435016.1_Missense_Mutation_p.G345S|PROX1_ENST00000498508.2_Missense_Mutation_p.G345S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	345					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		ACAACCGGAAGGCAAACATTT	0.512000													20	87					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20805243	20805243	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:20805243C>T	ENST00000298925.5	+	4	439	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	NELL1_ENST00000357134.5_Missense_Mutation_p.H68Y|NELL1_ENST00000325319.5_Missense_Mutation_p.H68Y|NELL1_ENST00000532434.1_Missense_Mutation_p.H68Y			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	68	TSP N-terminal.				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						AAGAGAGATCCATGCAGCTCC	0.438000													9	58					0	0	1	0	0
FAM98A	25940	broad.mit.edu	37	2	33813420	33813420	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:33813420G>A	ENST00000403368.1	-	4	573	c.504C>T	c.(502-504)ttC>ttT	p.F168F	FAM98A_ENST00000238823.8_Silent_p.F168F|FAM98A_ENST00000441530.2_Intron|FAM98A_ENST00000498340.1_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	168										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CAATCCCGCTGAAGAATTGGA	0.353000													40	126					0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226378373	226378373	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:226378373C>T	ENST00000272907.6	+	3	921	c.508C>T	c.(508-510)Cct>Tct	p.P170S	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	170																	CGGGAAAACCCCTGAGAGGAC	0.532000													9	45					0	0	1	0	0
FUK	197258	broad.mit.edu	37	16	70501297	70501297	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:70501297C>T	ENST00000288078.6	+	7	737	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Missense_Mutation_p.R201W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	169						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGACAGCTTCCGGGGAGCCAG	0.652000													9	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114290842	114290842	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:114290842C>T	ENST00000297405.5	-	3	737	c.493G>A	c.(493-495)Gga>Aga	p.G165R	CSMD3_ENST00000455883.2_Missense_Mutation_p.G165R|CSMD3_ENST00000352409.3_Missense_Mutation_p.G165R|CSMD3_ENST00000343508.3_Missense_Mutation_p.G125R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	165	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACCTTAAATCCATGAGCACTA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	44					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010278	32010278	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:32010278G>A	ENST00000375244.3	-	40	12365	c.12164C>T	c.(12163-12165)cCc>cTc	p.P4055L	TNXB_ENST00000451343.1_Missense_Mutation_p.P484L|TNXB_ENST00000375247.2_Missense_Mutation_p.P4053L			P22105	TENX_HUMAN	tenascin XB	4100	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACGTTCAGGGGCCGCTCGCG	0.667000													22	82					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237580394	237580394	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:237580394C>T	ENST00000366574.2	+	11	1136	c.819C>T	c.(817-819)tcC>tcT	p.S273S	RYR2_ENST00000542537.1_Silent_p.S257S|RYR2_ENST00000360064.6_Silent_p.S271S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	273	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCACGTTCCCTTTGGAGAC	0.418000													9	55					0	0	1	0	0
XKR4	114786	broad.mit.edu	37	8	56436232	56436232	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:56436232G>A	ENST00000327381.5	+	3	1499	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	467						integral to membrane		p.E467K(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATCCTTTTGGAAAATACAGC	0.473000													21	88					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88241879	88241879	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:88241879C>T	ENST00000418177.2	-	10	3887	c.3520G>A	c.(3520-3522)Gac>Aac	p.D1174N	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Missense_Mutation_p.D904N|GRM5_ENST00000455756.2_Missense_Mutation_p.D1142N|GRM5_ENST00000305447.4_Missense_Mutation_p.D1174N|GRM5_ENST00000305432.5_Missense_Mutation_p.D1142N			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1174					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTCCCCGAGTCCACCGAGTCT	0.642000													7	26					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189875586	189875586	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:189875586C>T	ENST00000304636.3	+	50	4394	c.4224C>T	c.(4222-4224)ttC>ttT	p.F1408F	COL3A1_ENST00000317840.5_Silent_p.F1105F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1408	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATAGCAAATTCACCTACACAG	0.398000													28	101					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960889	51960889	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:51960889G>A	ENST00000321424.3	-	2	625	c.559C>T	c.(559-561)Ccc>Tcc	p.P187S	SIGLEC8_ENST00000340550.5_Intron|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	187	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GAGATCATGGGGGGTGTCCCC	0.647000													17	123					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769189	15769189	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:15769189G>A	ENST00000221307.7	+	10	1279	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	CYP4F3_ENST00000586182.1_Missense_Mutation_p.G411S|CYP4F3_ENST00000591058.1_Missense_Mutation_p.G411S|CYP4F3_ENST00000585846.1_Missense_Mutation_p.G411S	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	411					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTCCCAGACGGCCGGGTCAT	0.642000													46	109					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086636	9086636	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:9086636C>T	ENST00000397910.4	-	1	5382	c.5179G>A	c.(5179-5181)Gga>Aga	p.G1727R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1727	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTATTTCCCTGTGTGTTC	0.488000													35	92					0	0	1	0	0
GTSF1L	149699	broad.mit.edu	37	20	42355061	42355061	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:42355061G>A	ENST00000373003.1	-	1	577	c.274C>T	c.(274-276)Cag>Tag	p.Q92*	GTSF1L_ENST00000373005.2_Nonsense_Mutation_p.Q92*	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	92							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GAGACCTGCTGGGTGTCATCG	0.507000													20	73					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45821585	45821585	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:45821585G>A	ENST00000397928.1	+	16	2788	c.2343G>A	c.(2341-2343)gtG>gtA	p.V781V	TRPM2_ENST00000300482.5_Silent_p.V781V|TRPM2_ENST00000397932.2_Silent_p.V781V|TRPM2_ENST00000300481.9_Silent_p.V761V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	781						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCAGGATGTGGGCACCCCCG	0.662000													37	111					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46760538	46760538	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr22:46760538C>T	ENST00000262738.3	-	33	8649	c.8650G>A	c.(8650-8652)Gtg>Atg	p.V2884M		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2884					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTGGTCTCCACCTTCAGGCGG	0.701000													25	22					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129371109	129371109	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:129371109G>A	ENST00000421865.2	+	2	208	c.159G>A	c.(157-159)acG>acA	p.T53T		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	53	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTCTTATCACGACCAATGCAA	0.438000													24	72					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52722194	52722194	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:52722194C>T	ENST00000394799.2	+	5	568	c.358C>T	c.(358-360)Caa>Taa	p.Q120*	GNL3_ENST00000460073.1_3'UTR|GNL3_ENST00000418458.1_Nonsense_Mutation_p.Q132*	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	132					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GCTGTACTGCCAAGAACTTAA	0.373000													30	82					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368635	27368635	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:27368635G>A	ENST00000244576.4	+	3	1031	c.486G>A	c.(484-486)gaG>gaA	p.E162E		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ACACTGGAGAGAAACCTTATG	0.388000													27	107					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067681	190067681	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:190067681C>T	ENST00000367462.3	-	8	1999	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.E488K	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		590						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					AAGCTGTTTTCATTCACAGGC	0.458000													67	254					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192553	123192553	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:123192553C>T	ENST00000264501.4	+	47	8247	c.7874C>T	c.(7873-7875)tCt>tTt	p.S2625F	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S2625F|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S2625F			Q2LD37	K1109_HUMAN	KIAA1109	2625					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AGCCGCAGTTCTAGAGGAAGT	0.388000													25	66					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113380087	113380087	+	Missense_Mutation	SNP	T	T	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:113380087T>A	ENST00000316407.4	-	7	852	c.442A>T	c.(442-444)Att>Ttt	p.I148F	KIAA2018_ENST00000478658.1_Missense_Mutation_p.I148F|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	148					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GAATAAACAATAATTTTTTTT	0.383000													27	83					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	439923	439923	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:439923G>A	ENST00000256509.2	+	25	3750	c.3108G>A	c.(3106-3108)ggG>ggA	p.G1036G	CHL1_ENST00000397491.2_Silent_p.G1020G	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1020					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGGTATCGGGAAGATATCAG	0.363000													19	32					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404095	20404095	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:20404095G>A	ENST00000285600.4	+	1	329	c.270G>A	c.(268-270)aaG>aaA	p.K90K		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGAGCGCAAGACTATCTCCT	0.408000													25	113					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21584661	21584661	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:21584661C>T	ENST00000328843.6	+	2	420	c.389C>T	c.(388-390)tCc>tTc	p.S130F	DNAH11_ENST00000409508.3_Missense_Mutation_p.S130F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	130	Stem (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						GTTTTTATTTCCAAGAAGATT	0.333000									Kartagener syndrome				4	13					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7636448	7636448	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:7636448C>T	ENST00000572933.1	+	5	1903	c.443C>T	c.(442-444)cCc>cTc	p.P148L	DNAH2_ENST00000389173.2_Missense_Mutation_p.P148L|DNAH2_ENST00000082259.3_Missense_Mutation_p.P148L|DNAH2_ENST00000570791.1_Missense_Mutation_p.P148L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	148	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCACCAGTTCCCATCACCTGG	0.587000													40	133					0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789316	5789316	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:5789316C>A	ENST00000309061.7	-	3	898	c.802G>T	c.(802-804)Ggg>Tgg	p.G268W	DUS3L_ENST00000320699.8_Intron|DUS3L_ENST00000590681.1_5'UTR	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	268					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						GTGCCCGGCCCTGCGGGGACC	0.726000													8	29					0.000157383	0.000158355	1	1	0
BPTF	2186	broad.mit.edu	37	17	65908341	65908341	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:65908341C>T	ENST00000321892.4	+	13	4780	c.4719C>T	c.(4717-4719)atC>atT	p.I1573I	BPTF_ENST00000306378.6_Silent_p.I1447I|BPTF_ENST00000424123.3_Silent_p.I1434I|BPTF_ENST00000335221.5_Silent_p.I1573I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1573					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ataaaataatCCCTGAGAATG	0.294000													22	55					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24658920	24658920	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:24658920G>A	ENST00000561419.1	-	2	131	c.132C>T	c.(130-132)tcC>tcT	p.S44S	TM9SF1_ENST00000528669.1_Silent_p.L491L|TM9SF1_ENST00000524835.1_Silent_p.L421L|TM9SF1_ENST00000530611.1_Silent_p.L717L|TM9SF1_ENST00000556387.1_Silent_p.L717L|TM9SF1_ENST00000261789.4_Silent_p.L508L																							ACACTCAGCAGGATGGCGAAG	0.542000													33	103					0	0	1	0	0
RBM19	9904	broad.mit.edu	37	12	114380195	114380195	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:114380195G>A	ENST00000545145.2	-	14	1749	c.1671C>T	c.(1669-1671)acC>acT	p.T557T	RBM19_ENST00000392561.3_Silent_p.T557T|RBM19_ENST00000261741.5_Silent_p.T557T	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	557					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GGACGAGCTGGGTTTCCCCCA	0.627000													13	36					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232575	58232575	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:58232575G>A	ENST00000317398.6	-	4	974	c.879C>T	c.(877-879)gcC>gcT	p.A293A	ZNF671_ENST00000335820.3_Silent_p.A195A|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCGGGTGAAGGCTTTCCCAC	0.502000													25	77					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20657730	20657730	+	RNA	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:20657730G>A	ENST00000428453.1	-	0	2228																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCACCAGGAGGAAGTGGGCTT	0.607000													8	43					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161134082	161134082	+	Missense_Mutation	SNP	G	G	A	rs141045811	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:161134082G>A	ENST00000308192.9	+	5	535	c.472G>A	c.(472-474)Gat>Aat	p.D158N	PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	158	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.D158N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAGACAACGATCCGCAGGG	0.478000													46	172					0	0	1	0	0
PNP	4860	broad.mit.edu	37	14	20940607	20940607	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:20940607G>A	ENST00000361505.5	+	2	298	c.152G>A	c.(151-153)gGt>gAt	p.G51D		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	51			G -> S (in dbSNP:rs1049564).		immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	TTTGACTACGGTGAAATCCCC	0.478000													9	60					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57112121	57112121	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:57112121G>A	ENST00000454682.1	-	3	3474	c.3193C>T	c.(3193-3195)Ccc>Tcc	p.P1065S	NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTGGGGAGGGAAGAGTTGCA	0.657000			T	BCL6	NHL								24	71					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31560576	31560576	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:31560576G>A	ENST00000379416.3	-	35	3930	c.3882C>T	c.(3880-3882)ctC>ctT	p.L1294L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1294					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTAGCCGGAAGAGTTCCTTCA	0.567000													20	80					0	0	1	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687426	205687426	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:205687426G>A	ENST00000367142.4	-	7	1016	c.714C>T	c.(712-714)gcC>gcT	p.A238A		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	238						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCAGAAGGGGCTTCATCTT	0.418000													82	172					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304514	3304514	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:3304514C>T	ENST00000219596.1	-	2	593	c.554G>A	c.(553-555)gGg>gAg	p.G185E	MEFV_ENST00000536379.1_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	185					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGGGCTTCTCCCGCCCGGCAG	0.761000													4	16					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99941185	99941185	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:99941185G>A	ENST00000524871.1	+	11	1482	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	CNTN5_ENST00000528682.1_Missense_Mutation_p.D398N|CNTN5_ENST00000279463.3_Missense_Mutation_p.D398N|CNTN5_ENST00000418526.2_Missense_Mutation_p.D324N|CNTN5_ENST00000527185.1_Missense_Mutation_p.D398N	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	398	Ig-like C2-type 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAAACTGAATGATACTCAGTT	0.433000													14	23					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95774016	95774016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:95774016G>A	ENST00000272418.2	-	5	749	c.541C>T	c.(541-543)Cga>Tga	p.R181*		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	181					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTCTTCTTTCGGTCCCACTCT	0.532000													38	112					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7227297	7227297	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:7227297C>T	ENST00000399464.2	-	12	2112	c.2097G>A	c.(2095-2097)ggG>ggA	p.G699G	NEURL4_ENST00000315614.7_Silent_p.G699G|NEURL4_ENST00000570460.1_Silent_p.G677G	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTGGTTGTTCCCCTCAGGGA	0.592000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	81					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77290735	77290735	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:77290735C>T	ENST00000388914.3	-	10	1343	c.1191G>A	c.(1189-1191)aaG>aaA	p.K397K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	397										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TATTCTGCTCCTTCTCCAGAC	0.483000													15	82					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47406945	47406945	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:47406945G>A	ENST00000310638.4	-	1	192	c.161C>T	c.(160-162)cCt>cTt	p.P54L	CYP4A11_ENST00000371904.4_Missense_Mutation_p.P54L|CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Missense_Mutation_p.P54L	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	54					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTGGGAGGGAGGGCACGGGAA	0.617000													22	81					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63486825	63486825	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:63486825C>T	ENST00000377819.5	+	3	1005	c.851C>T	c.(850-852)tCc>tTc	p.S284F	RTN3_ENST00000339997.4_Missense_Mutation_p.S265F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S172F|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	284					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAGAATCATCCGAAGACATT	0.393000													21	81					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380724	56380724	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:56380724G>A	ENST00000526538.1	-	1	254	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F85F(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GTTCTGAGAGGAAATTGTGCA	0.448000													23	94					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029367	219029367	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:219029367C>T	ENST00000295683.2	-	2	688	c.568G>A	c.(568-570)Gtc>Atc	p.V190I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	190					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TTTCCCAGGACCTCATAGCAA	0.517000													14	56					0	0	1	0	0
MORC1	27136	broad.mit.edu	37	3	108698385	108698385	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:108698385C>T	ENST00000232603.5	-	24	2536	c.2454G>A	c.(2452-2454)gtG>gtA	p.V818V	MORC1_ENST00000483760.1_Silent_p.V797V	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	818					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TCAGTTTTCTCACTGTTTCCT	0.398000													30	105					0	0	1	0	0
C5orf64	285668	broad.mit.edu	37	5	60982799	60982799	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:60982799G>A	ENST00000505642.1	+	3	202	c.127G>A	c.(127-129)Gag>Aag	p.E43K	RP11-2O17.2_ENST00000505623.1_RNA|C5orf64_ENST00000313303.7_Missense_Mutation_p.E43K|RP11-2O17.2_ENST00000507264.1_RNA|C5orf64_ENST00000510414.1_Intron|RP11-2O17.2_ENST00000513386.1_RNA	NM_173667.2	NP_775938.1	Q2M2E5	CE064_HUMAN	chromosome 5 open reading frame 64	43						extracellular region				breast(1)	1						GATAGAGACAGAGTTCAAGCA	0.448000													26	108					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606099	7606099	+	Silent	SNP	T	T	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:7606099T>G	ENST00000316024.5	+	8	3551	c.1203T>G	c.(1201-1203)ggT>ggG	p.G401G	WRAP53_ENST00000431639.2_Silent_p.G401G|WRAP53_ENST00000457584.2_Silent_p.G401G|WRAP53_ENST00000534050.1_Silent_p.G368G|WRAP53_ENST00000396463.2_Silent_p.G401G			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	401					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGCAGTCTGGTTACCCACTGT	0.607000													16	69					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232576	58232576	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:58232576G>A	ENST00000317398.6	-	4	973	c.878C>T	c.(877-879)gCc>gTc	p.A293V	ZNF671_ENST00000335820.3_Missense_Mutation_p.A195V|AC003006.7_ENST00000599221.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCGGGTGAAGGCTTTCCCACA	0.502000													25	75					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38590622	38590622	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:38590622C>T	ENST00000222345.6	+	5	2195	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	562					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)			TGCGGGGCTCCATCCTGGAAG	0.572000													25	88					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21529798	21529798	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:21529798C>T	ENST00000313654.9	+	71	9662	c.9421C>T	c.(9421-9423)Cct>Tct	p.P3141S	LAMA3_ENST00000269217.6_Missense_Mutation_p.P1532S|LAMA3_ENST00000587184.1_Missense_Mutation_p.P1476S|LAMA3_ENST00000399516.3_Missense_Mutation_p.P3085S|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3141	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGTATACCCCTTCTTCAAG	0.473000													19	68					0	0	1	0	0
FGFR1	2260	broad.mit.edu	37	8	38275869	38275869	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:38275869G>A	ENST00000341462.5	-	10	2248	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	FGFR1_ENST00000335922.5_Missense_Mutation_p.S426F|FGFR1_ENST00000447712.2_Missense_Mutation_p.S436F|FGFR1_ENST00000326324.6_Missense_Mutation_p.S345F|FGFR1_ENST00000356207.5_Missense_Mutation_p.S347F|FGFR1_ENST00000425967.3_Missense_Mutation_p.S467F|FGFR1_ENST00000397091.5_Missense_Mutation_p.S434F|FGFR1_ENST00000397103.1_Missense_Mutation_p.S347F|FGFR1_ENST00000397113.2_Missense_Mutation_p.S434F|FGFR1_ENST00000397108.4_Missense_Mutation_p.S434F|FGFR1_ENST00000532791.1_Missense_Mutation_p.S434F			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	436					axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	AGAGTTCATGGATGCACTGGA	0.587000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""						11	29					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581417	82581417	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:82581417C>T	ENST00000423517.2	-	5	9189	c.8852G>A	c.(8851-8853)aGg>aAg	p.R2951K	PCLO_ENST00000333891.8_Missense_Mutation_p.R2951K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2882					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGCAGCTCCTTCCAAATGG	0.433000													74	135					0	0	1	0	0
ACAD10	80724	broad.mit.edu	37	12	112153735	112153735	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:112153735C>T	ENST00000455480.2	+	8	1231	c.1054C>T	c.(1054-1056)Cca>Tca	p.P352S	ACAD10_ENST00000549590.1_Missense_Mutation_p.P321S|ACAD10_ENST00000313698.4_Missense_Mutation_p.P321S|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	321							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GACACTCCTTCCATCTGCCCA	0.522000													78	210					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78426999	78426999	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:78426999G>A	ENST00000276077.1	+	1	531	c.495G>A	c.(493-495)agG>agA	p.R165R		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	165						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCAATAGGACCAAATGCT	0.483000										HNSCC(63;0.18)			32	128					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5433823	5433823	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:5433823G>A	ENST00000345221.3	-	12	4052	c.3498C>T	c.(3496-3498)ctC>ctT	p.L1166L	NLRP1_ENST00000354411.3_Silent_p.L1136L|NLRP1_ENST00000269280.4_Silent_p.L1166L|NLRP1_ENST00000262467.5_Silent_p.L1170L|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Silent_p.L1166L|NLRP1_ENST00000577119.1_Silent_p.L1136L	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1166					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAAAGTGAGGGAGGTGCACAG	0.542000													15	59					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111694003	111694003	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:111694003G>A	ENST00000435970.1	-	15	6137	c.5321C>T	c.(5320-5322)cCt>cTt	p.P1774L	REV3L_ENST00000368802.3_Missense_Mutation_p.P1852L|REV3L_ENST00000368805.1_Missense_Mutation_p.P1852L|REV3L_ENST00000358835.3_Missense_Mutation_p.P1852L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1852					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGAACTATCAGGAGTTGGTGT	0.438000								DNA polymerases (catalytic subunits)					57	175					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26822440	26822440	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:26822440G>A	ENST00000376236.4	+	9	1341	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	296					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TAAGAACAAGGAATCCTTACT	0.318000													5	21					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17722529	17722529	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:17722529G>A	ENST00000355815.4	-	6	1125	c.956C>T	c.(955-957)aCc>aTc	p.T319I	SREBF1_ENST00000338854.5_Missense_Mutation_p.T289I|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000261646.5_Missense_Mutation_p.T289I|SREBF1_ENST00000395757.1_Missense_Mutation_p.T35I|SREBF1_ENST00000435530.2_Missense_Mutation_p.T289I	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	289	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGCCAAGATGGTTCCGCCACT	0.627000													23	103					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:196689149C>T	ENST00000312428.6	-	49	9221	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAGTTCTTCGCCAACATTT	0.348000													25	103					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327571	57327571	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:57327571C>T	ENST00000326441.9	-	10	2602	c.2239G>A	c.(2239-2241)Gaa>Aaa	p.E747K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E623K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.E621K|PEG3_ENST00000423103.2_Missense_Mutation_p.E747K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	747					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AACGCCTTTTCGTCCTCATCA	0.408000													58	227					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231134621	231134621	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:231134621G>A	ENST00000392045.3	+	14	1511	c.1397G>A	c.(1396-1398)gGa>gAa	p.G466E	SP140_ENST00000417495.3_Missense_Mutation_p.G352E|SP140_ENST00000486687.2_Missense_Mutation_p.G390E|SP140_ENST00000420434.3_Missense_Mutation_p.G439E|SP140_ENST00000350136.5_Missense_Mutation_p.G335E|SP140_ENST00000343805.6_Missense_Mutation_p.G406E	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	466					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAGGTGCCAGGAAGCCCAGAA	0.527000													25	73					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599727	29599727	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr13:29599727G>A	ENST00000431530.3	+	1	980	c.922G>A	c.(922-924)Gaa>Aaa	p.E308K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	298						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGTAAACTGGAAGCACAATT	0.507000													7	35					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73753213	73753213	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:73753213C>T	ENST00000223398.6	+	3	884	c.557C>T	c.(556-558)cCc>cTc	p.P186L	CLIP2_ENST00000395060.1_Missense_Mutation_p.P186L|CLIP2_ENST00000361545.5_Missense_Mutation_p.P186L	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	186						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						CGCGTCATCCCCCTGCGGGAG	0.652000													22	81					0	0	1	0	0
PLCXD2	257068	broad.mit.edu	37	3	111564690	111564690	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:111564690C>T	ENST00000393934.3	+	4	1459	c.889C>T	c.(889-891)Cct>Tct	p.P297S	PLCXD2_ENST00000477665.1_3'UTR|PHLDB2_ENST00000393923.3_5'UTR	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	0					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCCAGTTTATCCTTTGAGATT	0.468000													14	110					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51102322	51102322	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:51102322C>T	ENST00000301180.5	+	22	2660	c.2626C>T	c.(2626-2628)Cag>Tag	p.Q876*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	876						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGATAGTTTCCAGTGGATGAG	0.488000													6	16					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26287362	26287362	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr22:26287362G>A	ENST00000335473.7	+	27	4776	c.4526G>A	c.(4525-4527)aGg>aAg	p.R1509K	CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.R1510K|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1509K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1509	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GACTTGGAAAGGAATCCCACT	0.453000													5	7					0	0	1	0	0
ARHGAP28	79822	broad.mit.edu	37	18	6868186	6868186	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:6868186C>T	ENST00000419673.2	+	5	504	c.287C>T	c.(286-288)tCc>tTc	p.S96F	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S96F|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S91F|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S255F|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S96F|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S78F|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S203F|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.S255F	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	78					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CCAGTTCATTCCAATGGATCA	0.458000													18	52					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9345221	9345221	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:9345221G>A	ENST00000261336.2	-	12	1397	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	PZP_ENST00000381997.2_Silent_p.L326L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGGCTCCAGGTGAATGTAA	0.512000													27	91					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678334	25678334	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:25678334C>T	ENST00000382051.3	+	13	2086	c.2036C>T	c.(2035-2037)cCt>cTt	p.P679L	SLC34A2_ENST00000504570.1_Missense_Mutation_p.P678L|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P678L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	679					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGTGAGGTCCCTGCCTCGGAC	0.582000			T	ROS1	NSCLC								15	71					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28711619	28711619	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:28711619C>T	ENST00000257197.3	-	15	2686	c.2425G>A	c.(2425-2427)Gga>Aga	p.G809R	DSC1_ENST00000257198.5_Missense_Mutation_p.G809R|RP11-408H20.2_ENST00000581836.1_RNA|RP11-408H20.3_ENST00000582307.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	809					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAGTATCTCCCTGCCCCACT	0.498000													26	110					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112329632	112329632	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:112329632C>T	ENST00000369697.1	-	2	1272	c.1203G>A	c.(1201-1203)gtG>gtA	p.V401V	KCND3_ENST00000315987.2_Silent_p.V401V|KCND3_ENST00000302127.4_Silent_p.V401V			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	401						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGAAACAATCACAGGGACTG	0.537000													30	79					0	0	1	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56779284	56779284	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:56779284G>A	ENST00000413728.2	-	7	1380	c.837C>T	c.(835-837)atC>atT	p.I279I	ARHGEF3_ENST00000495373.1_Silent_p.I273I|ARHGEF3_ENST00000497267.1_Silent_p.I244I|ARHGEF3_ENST00000296315.3_Silent_p.I273I|ARHGEF3_ENST00000338458.4_Silent_p.I305I|ARHGEF3_ENST00000496106.1_Silent_p.I279I	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	273	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGTGCCTCAAGATTTCTCGGA	0.428000													39	145					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271930	59271930	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:59271930G>A	ENST00000313253.1	+	1	882	c.882G>A	c.(880-882)atG>atA	p.M294I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCAGGAAATGAAGTCAGCCA	0.522000													25	66					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57925900	57925900	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:57925900G>A	ENST00000574161.1	+	8	1013	c.894G>A	c.(892-894)agG>agA	p.R298R	MYZAP_ENST00000380565.4_Silent_p.R298R|GCOM1_ENST00000572390.1_Silent_p.R298R|POLR2M_ENST00000380563.2_5'UTR|GCOM1_ENST00000587652.1_Silent_p.R298R|GCOM1_ENST00000380561.2_Silent_p.R267R|GCOM1_ENST00000380569.2_Silent_p.R298R|GCOM1_ENST00000380560.2_Silent_p.R229R|GCOM1_ENST00000380568.3_Silent_p.R298R|GCOM1_ENST00000396180.1_Silent_p.R267R|MYZAP_ENST00000267853.5_Silent_p.R298R	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		298					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AAGACCAGAGGATCGGGGAGC	0.483000													25	114					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058579	152058579	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:152058579C>T	ENST00000368806.1	-	3	1643	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	527							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TAACCATCCTCCTCCTCAACT	0.507000													42	173					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41444963	41444963	+	RNA	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:41444963G>C	ENST00000599198.1	+	0	628					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						CCACTACCAAGATCAAGAGTT	0.512000													5	24					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71277022	71277022	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:71277022C>T	ENST00000398531.1	+	1	414	c.389C>T	c.(388-390)tCc>tTc	p.S130F	KRTAP5-10_ENST00000376536.4_Missense_Mutation_p.S82F	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	130	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TGTGGGGGCTCCAAGGGGGGC	0.652000													60	225					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108230220	108230220	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:108230220G>A	ENST00000369002.4	-	8	823	c.644C>T	c.(643-645)tCa>tTa	p.S215L		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	215	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		ATAGCGTATTGAGCGATACCA	0.358000													7	38					0	0	1	0	0
IL1R1	3554	broad.mit.edu	37	2	102781691	102781691	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:102781691G>A	ENST00000410023.1	+	5	731	c.413G>A	c.(412-414)gGa>gAa	p.G138E	IL1R1_ENST00000409589.1_Missense_Mutation_p.G138E|IL1R1_ENST00000233946.3_Missense_Mutation_p.G138E|IL1R1_ENST00000424272.1_Missense_Mutation_p.G138E|IL1R1_ENST00000409329.1_Missense_Mutation_p.G138E|IL1R1_ENST00000409929.1_Missense_Mutation_p.G138E|IL1R1_ENST00000409288.1_Missense_Mutation_p.G138E			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	138	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GCAGGAGACGGAGGACTTGTG	0.318000													14	49					0	0	1	0	0
HCN2	610	broad.mit.edu	37	19	603852	603852	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:603852C>T	ENST00000251287.2	+	2	994	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	314					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCATTGACTCCGAGGTCTAC	0.582000													24	67					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155883966	155883966	+	Nonsense_Mutation	SNP	A	A	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:155883966A>C	ENST00000368321.3	-	14	1814	c.1791T>G	c.(1789-1791)taT>taG	p.Y597*	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	597										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			GTGATGAAGGATATTGGTATC	0.453000													32	120					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110956697	110956697	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:110956697G>A	ENST00000409246.1	+	8	830	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	RAD9B_ENST00000409425.1_Missense_Mutation_p.E169K|RAD9B_ENST00000409300.1_Missense_Mutation_p.E241K|RAD9B_ENST00000392672.4_Missense_Mutation_p.E241K|RAD9B_ENST00000409778.3_Missense_Mutation_p.E172K			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	238					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						GACATTTTCAGAAGCTACACA	0.279000													6	15					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124030022	124030022	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:124030022G>A	ENST00000422452.2	-	2	349	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TENM1_ENST00000371130.3_Missense_Mutation_p.R96W	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAGCCATGCCGAGAAACGCTG	0.473000													61	221					0	0	1	0	0
C10orf113	387638	broad.mit.edu	37	10	21414830	21414830	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:21414830C>T	ENST00000534331.1	-	2	440	c.390G>A	c.(388-390)ggG>ggA	p.G130G	C10orf113_ENST00000529198.1_3'UTR|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Silent_p.G120G	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	130										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATCCATGCTTCCCTTTGGTTA	0.463000													34	86					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459846	66459846	+	RNA	SNP	G	G	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:66459846G>T	ENST00000424345.1	+	0	106																											acttggtgaggtcatgttttc	0.363000													3	23					1.23904e-05	1.25184e-05	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38982092	38982092	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:38982092G>A	ENST00000357387.3	-	8	660	c.630C>T	c.(628-630)acC>acT	p.T210T	RICTOR_ENST00000296782.5_Silent_p.T210T	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	210					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTTTCAAGATGGTGTTTAGTC	0.353000													43	166					0	0	1	0	0
NUDT8	254552	broad.mit.edu	37	11	67395445	67395445	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:67395445G>A	ENST00000376693.2	-	4	692	c.683C>T	c.(682-684)tCc>tTc	p.S228F	NUDT8_ENST00000301490.4_3'UTR	NM_001243750.1	NP_001230679.1	Q8WV74	NUDT8_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 8	228						mitochondrion	hydrolase activity|metal ion binding			endometrium(1)|lung(1)|prostate(1)|skin(1)	4						TCCTGGAGTGGAGCTGGCCTG	0.637000													6	34					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481048	140481048	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:140481048G>A	ENST00000231130.2	+	1	815	c.815G>A	c.(814-816)gGa>gAa	p.G272E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		272	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTAGATACAGGAAGTTTTGGG	0.408000													20	74					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34149835	34149835	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:34149835G>A	ENST00000346193.3	-	1	612	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	187	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GCTTCAGGCAGAATTCCCCAC	0.597000													30	100					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T	rs144252881	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:20170029C>T	ENST00000338912.5	-	0	242																											CCTGGAACTTCTGTGCATAGC	0.547000													6	279					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752259	247752259	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:247752259G>A	ENST00000320065.1	+	1	598	c.598G>A	c.(598-600)Gct>Act	p.A200T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTTTAACGAGGCTGAGCTTTT	0.522000													37	153					0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24919670	24919670	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr22:24919670C>T	ENST00000413389.2	+	9	2389	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	UPB1_ENST00000498140.1_3'UTR|UPB1_ENST00000326010.5_Missense_Mutation_p.R334W			Q9UBR1	BUP1_HUMAN	ureidopropionase, beta	334	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					GTCCCGTAGCCGGGATGGACT	0.547000													58	60					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202702783	202702783	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:202702783G>C	ENST00000367265.3	-	23	4819	c.3655C>G	c.(3655-3657)Ccc>Gcc	p.P1219A	KDM5B_ENST00000367264.2_Missense_Mutation_p.P1255A	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1219					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGACAATGGGGACAAAGCCAG	0.537000													4	76					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104539	5104539	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:5104539C>T	ENST00000396912.1	+	5	1971	c.1452C>T	c.(1450-1452)tcC>tcT	p.S484S	RBAK_ENST00000396904.2_Intron|RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Silent_p.S484S	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	484	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAGAGAAATCCCATGAATGTA	0.368000													34	61					0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79637320	79637320	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:79637320C>A	ENST00000329214.8	+	3	737	c.334C>A	c.(334-336)Ccc>Acc	p.P112T		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	112										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CATCGCAGTCCCCAAGTTCAA	0.577000													10	33					7.93312e-07	8.03167e-07	1	1	0
LPA	4018	broad.mit.edu	37	6	161006084	161006084	+	Missense_Mutation	SNP	G	G	A	rs76144756	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:161006084G>A	ENST00000447678.1	-	27	4403	c.4283C>T	c.(4282-4284)cCa>cTa	p.P1428L	LPA_ENST00000316300.5_Missense_Mutation_p.P1428L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3936	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATACGCATTTGGATAGTATAA	0.428000													66	225					0	0	1	0	0
BMF	90427	broad.mit.edu	37	15	40398293	40398293	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:40398293C>T	ENST00000354670.4	-	3	230		c.e3-1		BMF_ENST00000559701.1_Splice_Site|BMF_ENST00000561360.1_5'UTR|BMF_ENST00000561282.1_Splice_Site|BMF_ENST00000558774.1_Splice_Site|BMF_ENST00000397573.1_Splice_Site	NM_001003940.1	NP_001003940.1	Q96LC9	BMF_HUMAN	Bcl2 modifying factor						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|mitochondrial outer membrane|myosin complex|plasma membrane	protein binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6		all_cancers(109;4.18e-18)|all_epithelial(112;6.15e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.29e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0516)		TCCATCTCTCCTGTGAGGGGG	0.597000													10	56					0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70444040	70444040	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:70444040G>A	ENST00000433529.2	-	8	771	c.561C>T	c.(559-561)ccC>ccT	p.P187P	TIA1_ENST00000282574.4_Silent_p.P187P|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000482876.1_5'UTR|TIA1_ENST00000416149.2_Silent_p.P187P|TIA1_ENST00000445587.1_Silent_p.P176P|TIA1_ENST00000415783.2_Silent_p.P176P	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	187					apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TCTTTGGAGCGGGAGGCTTTC	0.443000													88	344					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65486456	65486456	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:65486456G>A	ENST00000519389.1	+	21	3760	c.3581G>A	c.(3580-3582)cGa>cAa	p.R1194Q	HEPH_ENST00000441993.2_Missense_Mutation_p.R1142Q|HEPH_ENST00000419594.1_Missense_Mutation_p.R951Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R873Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R1140Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R1143Q			Q9BQS7	HEPH_HUMAN	hephaestin	1140					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGAAAGCTACGACGCAATAGG	0.488000													27	80					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163325182	163325182	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:163325182G>A	ENST00000271452.3	+	14	1597	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T	NUF2_ENST00000524800.1_Missense_Mutation_p.A393T|NUF2_ENST00000367900.3_Missense_Mutation_p.A440T	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	440	Interaction with the C-terminus of NDC80 and the SPBC24-SPBC25 subcomplex.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TATTGAAAAGGCAGCAGAGGA	0.338000													55	79					0	0	1	0	0
GAP43	2596	broad.mit.edu	37	3	115395235	115395235	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:115395235G>A	ENST00000393780.3	+	3	982	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	GAP43_ENST00000305124.6_Missense_Mutation_p.G136S	NM_001130064.1	NP_001123536.1	P17677	NEUM_HUMAN	growth associated protein 43	136					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GGAGAAGGCCGGCTCAGCTGA	0.587000													24	60					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871094	170871094	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.622000													5	75					0	0	1	0	0
FIGF	2277	broad.mit.edu	37	X	15381283	15381283	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:15381283G>A	ENST00000297904.3	-	2	678	c.249C>T	c.(247-249)tcC>tcT	p.S83S		NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	83					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGGACCGATGGGATGCTGAGC	0.448000													24	69					0	0	1	0	0
RHBDF2	79651	broad.mit.edu	37	17	74475046	74475046	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:74475046C>T	ENST00000591885.1	-	6	1064	c.514G>A	c.(514-516)Gag>Aag	p.E172K	RHBDF2_ENST00000389760.4_Missense_Mutation_p.E172K|RHBDF2_ENST00000313080.4_Missense_Mutation_p.E201K			Q6PJF5	RHDF2_HUMAN	rhomboid 5 homolog 2 (Drosophila)	201					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						CTGTCCATCTCCTCCGGGTGG	0.697000													15	39					0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79637319	79637319	+	Silent	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:79637319C>A	ENST00000329214.8	+	3	736	c.333C>A	c.(331-333)gtC>gtA	p.V111V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	111										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			ACATCGCAGTCCCCAAGTTCA	0.582000													10	33					7.93312e-07	8.03167e-07	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525706	248525706	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:248525706C>T	ENST00000366475.1	+	1	824	c.824C>T	c.(823-825)tCc>tTc	p.S275F		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGCTCCTCCCACCTGACT	0.542000													60	243					0	0	1	0	0
KIAA1199	57214	broad.mit.edu	37	15	81229171	81229171	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:81229171C>T	ENST00000394685.3	+	24	3585	c.3166C>T	c.(3166-3168)Cac>Tac	p.H1056Y	KIAA1199_ENST00000356249.5_Missense_Mutation_p.H1056Y|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Missense_Mutation_p.H1056Y			Q8WUJ3	K1199_HUMAN	KIAA1199	1056										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTACACCATCCACTGGGACCA	0.592000													34	132					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155136937	155136937	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:155136937T>C	ENST00000367178.3	+	13	2084	c.1508T>C	c.(1507-1509)aTt>aCt	p.I503T	SCAF8_ENST00000367186.4_Missense_Mutation_p.I569T|SCAF8_ENST00000417268.1_Missense_Mutation_p.I503T	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	503	RRM.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						TTTGGACAGATTGAATCCATT	0.363000													7	45					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436923	248436923	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:248436923G>A	ENST00000318021.2	-	1	215	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTCCATGAGGGAAAGTTGGCT	0.552000													88	137					0	0	1	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101909	149101909	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:149101909C>A	ENST00000370406.3	-	4	1012	c.184G>T	c.(184-186)Ggg>Tgg	p.G62W	CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62W|CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62W|CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62W			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	62										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCATCCCGAGTCTCTCC	0.562000													12	262					0.000151284	0.000152532	1	1	0
CCDC102A	92922	broad.mit.edu	37	16	57550219	57550219	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:57550219G>A	ENST00000258214.2	-	7	1651	c.1405C>T	c.(1405-1407)Cag>Tag	p.Q469*		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	469										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TCCTCAGCCTGGGCCAGCTCC	0.667000													17	52					0	0	1	0	0
SLC15A3	51296	broad.mit.edu	37	11	60714198	60714198	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:60714198C>T	ENST00000227880.3	-	2	887	c.654G>A	c.(652-654)gcG>gcA	p.A218A		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	218					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GCTGAATAAACGCCACCACCA	0.582000													67	226					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57136796	57136796	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr18:57136796C>T	ENST00000439986.4	-	4	346	c.309G>A	c.(307-309)acG>acA	p.T103T	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	103					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CAAAGTTGTCCGTGCACTGCT	0.542000													46	180					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448903	99448903	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:99448903C>T	ENST00000397899.2	-	5	779	c.448G>A	c.(448-450)Gat>Aat	p.D150N	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		ATGCCGGCATCCTCTCCCCGC	0.562000													26	64					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10188767	10188767	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:10188767C>T	ENST00000380833.4	+	12	2433	c.2042C>T	c.(2041-2043)cCc>cTc	p.P681L	CLCN4_ENST00000380829.1_Missense_Mutation_p.P650L|CLCN4_ENST00000421085.2_Missense_Mutation_p.P587L	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	681						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGGAACCCCCCGAGCTGCCG	0.582000													52	211					0	0	1	0	0
NUMA1	4926	broad.mit.edu	37	11	71716279	71716279	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:71716279C>T	ENST00000393695.3	-	23	6160	c.5829_splice	c.e23+1	p.R1943_splice	NUMA1_ENST00000358965.6_Splice_Site_p.R1929_splice|NUMA1_ENST00000351960.6_Splice_Site_p.R807_splice	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1943					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CAGGCCTCACCCTGGACTCCA	0.617000			T	RARA	APL								16	52					0	0	1	0	0
NUCKS1	64710	broad.mit.edu	37	1	205687425	205687425	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:205687425G>A	ENST00000367142.4	-	7	1017	c.715C>T	c.(715-717)Cct>Tct	p.P239S		NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	239						nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCCCAGAAGGGGCTTCATCT	0.418000													84	173					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16464596	16464596	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:16464596C>T	ENST00000358432.5	-	5	1218	c.1064G>A	c.(1063-1065)gGg>gAg	p.G355E		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	355	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTCGCGGCCCCCGCTGTCCTG	0.682000													12	48					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43557616	43557616	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:43557616C>T	ENST00000400427.1	+	21	4407	c.4011C>T	c.(4009-4011)ttC>ttT	p.F1337F	UMODL1_ENST00000408910.2_Silent_p.F1281F|UMODL1_ENST00000408989.2_Silent_p.F1409F|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400424.1_Silent_p.F1209F	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1281						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGCCATCTTCGTGCTGGTGG	0.547000													38	142					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249149769	249149769	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:249149769G>A	ENST00000451251.1	-	8	1307	c.962C>T	c.(961-963)cCc>cTc	p.P321L	ZNF692_ENST00000366471.3_Missense_Mutation_p.P271L|ZNF692_ENST00000366469.5_Missense_Mutation_p.P315L|ZNF692_ENST00000427146.1_Missense_Mutation_p.P271L|ZNF692_ENST00000306601.4_Missense_Mutation_p.P316L	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			AATTCTCTTGGGGCCAATTTG	0.607000													16	77					0	0	1	0	0
RQCD1	9125	broad.mit.edu	37	2	219449406	219449406	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:219449406C>T	ENST00000273064.6	+	4	767	c.392C>T	c.(391-393)cCc>cTc	p.P131L	RQCD1_ENST00000295701.5_Missense_Mutation_p.P131L|RQCD1_ENST00000542068.1_Missense_Mutation_p.P131L|RQCD1_ENST00000509807.2_Missense_Mutation_p.P131L	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	131					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAAACACGTCCCTTTGAGTAT	0.423000													57	173					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75198161	75198161	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:75198161G>A	ENST00000360663.5	-	14	1525	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	PPP3CB_ENST00000544628.1_Missense_Mutation_p.P100S|PPP3CB_ENST00000394829.2_Missense_Mutation_p.P473S|PPP3CB_ENST00000394828.2_Missense_Mutation_p.P463S			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	472										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTATGTGGTGGAGAGAATCCT	0.343000													25	65					0	0	1	0	0
ZXDA	7789	broad.mit.edu	37	X	57935899	57935899	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:57935899C>G	ENST00000358697.4	-	1	1168	c.956G>C	c.(955-957)aGg>aCg	p.R319T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	319	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CTGCAGGTGCCTCTTGAGCTT	0.622000													18	51					0	0	1	0	0
ZMAT1	84460	broad.mit.edu	37	X	101152914	101152914	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:101152914G>A	ENST00000372782.3	-	5	479	c.432C>T	c.(430-432)gtC>gtT	p.V144V	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.V144V	NM_001011657.3	NP_001011657.2	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	0						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTTAGCATGGACCTTTCCCA	0.408000													29	107					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947807	40947807	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:40947807C>T	ENST00000313164.9	+	8	1201	c.842C>T	c.(841-843)tCc>tTc	p.S281F		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	281	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AAGGAGCTTTCCCACCTCCCC	0.448000													7	62					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13722795	13722795	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:13722795C>T	ENST00000279593.3	-	11	2537	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	776					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGCAAGGTCCACCTGGCGCT	0.507000													18	50					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54798660	54798660	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:54798660G>A	ENST00000293379.4	-	13	1505	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	415					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCCACCAAAGGGAGCCCCGAT	0.592000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	21					0	0	1	0	0
CEACAM16	388551	broad.mit.edu	37	19	45207430	45207430	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:45207430C>T	ENST00000587331.1	+	4	740	c.525C>T	c.(523-525)ctC>ctT	p.L175L	CEACAM16_ENST00000405314.2_Silent_p.L175L|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	175										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CCGTCGCTCTCCGCCTGGGCC	0.701000													3	10					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32010277	32010277	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:32010277G>A	ENST00000375244.3	-	40	12366	c.12165C>T	c.(12163-12165)ccC>ccT	p.P4055P	TNXB_ENST00000451343.1_Silent_p.P484P|TNXB_ENST00000375247.2_Silent_p.P4053P			P22105	TENX_HUMAN	tenascin XB	4100	Fibronectin type-III 32.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACGTTCAGGGGCCGCTCGC	0.667000													22	82					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685577	47685577	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:47685577C>T	ENST00000371883.3	-	4	1393	c.817G>A	c.(817-819)Gga>Aga	p.G273R	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Missense_Mutation_p.G271R|TAL1_ENST00000371884.2_Missense_Mutation_p.G271R			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	271	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						ccgccccctcccccacctcca	0.687000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								8	13					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38913066	38913066	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:38913066C>T	ENST00000450244.1	-	21	3827	c.3629G>A	c.(3628-3630)gGa>gAa	p.G1210E	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1172E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G1210E|SCN11A_ENST00000302328.3_Missense_Mutation_p.G1210E			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1210					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TGAGTCTGTTCCATTAATGCA	0.348000													15	44					0	0	1	0	0
FAM115C	285966	broad.mit.edu	37	7	143417213	143417213	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:143417213G>A	ENST00000441159.2	+	3	1127	c.1061G>A	c.(1060-1062)gGt>gAt	p.G354D	FAM115C_ENST00000444908.2_Missense_Mutation_p.G354D|FAM115C_ENST00000425618.2_Missense_Mutation_p.G73D|FAM115C_ENST00000409703.3_Missense_Mutation_p.G190D|FAM115C_ENST00000411497.2_Missense_Mutation_p.G73D|FAM115C_ENST00000357344.4_Missense_Mutation_p.G354D|FAM115C_ENST00000411935.1_Missense_Mutation_p.G190D			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	354										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						GTGGCTGAGGGTGGGGGGCTG	0.617000													36	48					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23421092	23421092	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:23421092G>A	ENST00000347397.1	+	2	434	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	CSTL1_ENST00000246020.2_Missense_Mutation_p.R63Q|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	63						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					TACTTATATCGAGTCCAGAGG	0.463000													43	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064879	9064879	+	Missense_Mutation	SNP	T	T	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:9064879T>C	ENST00000397910.4	-	3	22770	c.22567A>G	c.(22567-22569)Act>Gct	p.T7523A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7525	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGCAGGAGTTAATGTAGAA	0.488000													24	76					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160033809	160033809	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:160033809C>T	ENST00000327245.5	-	19	3969	c.3123G>A	c.(3121-3123)ctG>ctA	p.L1041L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1041					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTCGCACCAGCTTGACTA	0.527000													16	91					0	0	1	0	0
ELOVL5	60481	broad.mit.edu	37	6	53156635	53156635	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:53156635C>T	ENST00000542638.1	-	3	632	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	ELOVL5_ENST00000304434.6_Missense_Mutation_p.R62Q|ELOVL5_ENST00000541407.1_Missense_Mutation_p.R62Q|ELOVL5_ENST00000486973.1_5'UTR|ELOVL5_ENST00000370918.4_Missense_Mutation_p.R62Q			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	62					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					TAAAATCCCCCGGCAAGAGAA	0.388000													22	114					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196689147	196689147	+	Silent	SNP	T	T	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:196689147T>C	ENST00000312428.6	-	49	9223	c.9123A>G	c.(9121-9123)gaA>gaG	p.E3041E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3041	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GATCTAGTTCTTCGCCAACAT	0.348000													26	107					0	0	1	0	0
NAA15	80155	broad.mit.edu	37	4	140306099	140306099	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:140306099A>G	ENST00000296543.5	+	18	2592	c.2269A>G	c.(2269-2271)Agg>Ggg	p.R757G	NAA15_ENST00000398947.1_Missense_Mutation_p.R756G	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	757					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TTTTCTGAAAAGGAATTCTGA	0.279000													12	53					0	0	1	0	0
FBXO40	51725	broad.mit.edu	37	3	121340903	121340903	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:121340903G>A	ENST00000338040.4	+	3	1041	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	209					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCAAAGAAGGGATGGACCTGG	0.478000													18	51					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786416	121786416	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:121786416G>A	ENST00000261367.7	+	12	3443	c.2015G>A	c.(2014-2016)gGa>gAa	p.G672E	SNCAIP_ENST00000261368.8_Missense_Mutation_p.G625E|SNCAIP_ENST00000379533.2_Missense_Mutation_p.G672E|SNCAIP_ENST00000542191.1_Missense_Mutation_p.G183E|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Missense_Mutation_p.G565E|SNCAIP_ENST00000379538.3_Missense_Mutation_p.G259E|CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.G227E|CTC-210G5.1_ENST00000510972.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	625					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CAGTTATTGGGAAAGGAAATC	0.458000													23	69					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642020	99642020	+	Missense_Mutation	SNP	C	C	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:99642020C>G	ENST00000345514.2	-	3	1206	c.940G>C	c.(940-942)Ggc>Cgc	p.G314R	BCL11B_ENST00000357195.3_Missense_Mutation_p.G385R|BCL11B_ENST00000443726.2_Missense_Mutation_p.G191R	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	385						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ATAGGGTTGCCGCGGCCCGGG	0.746000			T	TLX3	T-ALL								3	17					0	0	1	0	0
CERKL	375298	broad.mit.edu	37	2	182413324	182413324	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:182413324C>T	ENST00000410087.3	-	8	1181	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	CERKL_ENST00000409440.3_Missense_Mutation_p.D343N|CERKL_ENST00000374969.2_Missense_Mutation_p.D248N|CERKL_ENST00000374970.2_Missense_Mutation_p.D292N|CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000339098.5_Missense_Mutation_p.D387N	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	387					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATTTCACAGTCTTCTGCCCTA	0.318000													13	31					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38655263	38655263	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:38655263C>T	ENST00000443581.1	-	6	867	c.674G>A	c.(673-675)cGg>cAg	p.R225Q	SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000450102.2_Intron|SCN5A_ENST00000449557.2_Missense_Mutation_p.R225Q|SCN5A_ENST00000423572.2_Missense_Mutation_p.R225Q|SCN5A_ENST00000455624.2_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000413689.1_Intron|SCN5A_ENST00000451551.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.R225Q	NM_000335.4|NM_198056.2	NP_000326.2|NP_932173.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	225			R -> Q (in LQT3).|R -> W (in PFHB1A).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R225Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TTTCAGGGCCCGGAGGACTCG	0.498000													3	11					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41834628	41834628	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:41834628G>A	ENST00000396930.3	-	8	1804	c.1261C>T	c.(1261-1263)Cct>Tct	p.P421S	KAT6A_ENST00000406337.1_Missense_Mutation_p.P421S|KAT6A_ENST00000265713.2_Missense_Mutation_p.P421S|KAT6A_ENST00000485568.1_Missense_Mutation_p.P421S	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	421	Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CGCCCATCAGGGGAAGGGGTA	0.483000													33	98					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141313823	141313823	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:141313823G>A	ENST00000325617.5	-	12	1848	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	CLGN_ENST00000414773.1_Missense_Mutation_p.P470S|CLGN_ENST00000537281.1_Missense_Mutation_p.P470S	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	470					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CAAAGCCATGGGTGCCCTTCA	0.363000													9	73					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													8	279					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237787160	237787160	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:237787160G>A	ENST00000366574.2	+	39	6329	c.6012G>A	c.(6010-6012)atG>atA	p.M2004I	RYR2_ENST00000542537.1_Missense_Mutation_p.M1988I|RYR2_ENST00000360064.6_Missense_Mutation_p.M2002I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2004	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGATTTGATGACACATTGTG	0.303000													29	44					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792875	143792875	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:143792875G>A	ENST00000408949.2	+	1	735	c.675G>A	c.(673-675)ttG>ttA	p.L225L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGGCCATCTTGAGGATCCAGT	0.587000													168	259					0	0	1	0	0
MRPS5	64969	broad.mit.edu	37	2	95774017	95774017	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:95774017G>A	ENST00000272418.2	-	5	748	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	180					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCTTCTTTCGGTCCCACTCTT	0.532000													37	114					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24906190	24906190	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:24906190G>A	ENST00000379068.3	+	35	4158	c.4115G>A	c.(4114-4116)cGa>cAa	p.R1372Q	POLA1_ENST00000379059.3_Missense_Mutation_p.R1366Q			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1366					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	CAATTCTCCCGAACTGGGCCT	0.498000													17	83					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58587745	58587745	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:58587745C>T	ENST00000348616.4	+	18	2759	c.2459C>T	c.(2458-2460)cCg>cTg	p.P820L	CDH26_ENST00000350849.6_Missense_Mutation_p.P153L|CDH26_ENST00000244049.3_Missense_Mutation_p.P112L|CDH26_ENST00000244047.5_Intron|CDH26_ENST00000497614.1_3'UTR	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAAGCGACTCCGTTTGAGGAA	0.453000													24	83					0	0	1	0	0
RHBDL2	54933	broad.mit.edu	37	1	39361738	39361738	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:39361738G>C	ENST00000289248.2	-	5	1520	c.512C>G	c.(511-513)tCc>tGc	p.S171C	RP5-864K19.4_ENST00000433671.2_RNA|RHBDL2_ENST00000372985.3_Missense_Mutation_p.S251C|RHBDL2_ENST00000372990.1_Missense_Mutation_p.S171C|RHBDL2_ENST00000538156.1_Missense_Mutation_p.S238C			Q9NX52	RHBL2_HUMAN	rhomboid, veinlet-like 2 (Drosophila)	171					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GCTGGCAAGGGACCCTAAAGA	0.418000													9	30					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118147626	118147626	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:118147626C>T	ENST00000456015.2	+	1	60	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000521243.1_Intron|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000521035.1_3'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	20					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGTATGCTTTCACACTAGAAA	0.403000													39	181					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692286	20692286	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:20692286C>T	ENST00000315519.2	+	1	496	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GGCTTATGATCGGTACCTGGC	0.428000													32	137					0	0	1	0	0
ADAT3	113179	broad.mit.edu	37	19	1913094	1913094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:1913094C>T	ENST00000329478.2	+	2	1268	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	ADAT3_ENST00000602400.1_Nonsense_Mutation_p.Q334*|SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000316097.8_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	334					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCTTCCAGGTGTTCCG	0.741000													8	19					0	0	1	0	0
DNAJC22	79962	broad.mit.edu	37	12	49742782	49742782	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:49742782C>T	ENST00000549441.2	+	3	1331	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	DNAJC22_ENST00000395069.3_Silent_p.L43L			Q8N4W6	DJC22_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 22	43					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGGAGGTGGGCTGGGCTGGCT	0.672000													22	80					0	0	1	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43653963	43653963	+	Nonsense_Mutation	SNP	C	C	A	rs150098604		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:43653963C>A	ENST00000396976.2	-	5	2001	c.1867G>T	c.(1867-1869)Gag>Tag	p.E623*	ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E233*|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E234*|ZSCAN29_ENST00000562072.1_Silent_p.G551G	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	623					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCTTTTCTCCCCTGAGGTC	0.448000													34	166					1.22384e-17	1.24939e-17	1	1	0
COL6A3	1293	broad.mit.edu	37	2	238296553	238296553	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:238296553G>A	ENST00000295550.4	-	4	1436	c.984C>T	c.(982-984)ttC>ttT	p.F328F	COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.F122F|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Silent_p.F122F|COL6A3_ENST00000346358.4_Silent_p.F328F|COL6A3_ENST00000392004.3_Silent_p.F122F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	328	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TCTCCACCACGAAATCAAGGG	0.622000													13	67					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55118639	55118639	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:55118639G>A	ENST00000414150.2	+	3	318	c.40G>A	c.(40-42)Gac>Aac	p.D14N	MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000395690.2_Missense_Mutation_p.D14N|MROH7_ENST00000545244.1_Intron|MROH7_ENST00000339553.5_Missense_Mutation_p.D14N|MROH7_ENST00000421030.2_Missense_Mutation_p.D14N|MROH7_ENST00000454855.2_Intron|MROH7_ENST00000409996.1_Intron					maestro heat-like repeat family member 7																		CTTCCATGAAGACCCAAAGAT	0.587000													22	73					0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62663304	62663304	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:62663304C>T	ENST00000535781.1	+	19	2571	c.2460C>T	c.(2458-2460)gcC>gcT	p.A820A	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	860					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TCACCAAGGCCAGGGAGTGGT	0.582000													57	185					0	0	1	0	0
DCLK3	85443	broad.mit.edu	37	3	36779094	36779094	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:36779094C>T	ENST00000416516.2	-	2	1547	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	353						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TAATGCTTTTCCACATTGGCG	0.572000													23	87					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77743797	77743797	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr13:77743797G>A	ENST00000407578.2	-	39	6113	c.5847C>T	c.(5845-5847)ctC>ctT	p.L1949L	MYCBP2_ENST00000544440.2_Silent_p.L1911L|MYCBP2_ENST00000357337.6_Silent_p.L1911L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAATAAGGGGGAGCAGCATGG	0.343000													29	77					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124824657	124824657	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:124824657G>A	ENST00000356219.3	-	38	5758	c.5603C>T	c.(5602-5604)tCc>tTc	p.S1868F	NCOR2_ENST00000429285.2_Missense_Mutation_p.S1851F|NCOR2_ENST00000405201.1_Missense_Mutation_p.S1861F|NCOR2_ENST00000404621.1_Missense_Mutation_p.S1851F|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1422F|NCOR2_ENST00000397355.1_Missense_Mutation_p.S1852F	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1872					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTCCGAGGGGAGATGGGCGA	0.677000													15	61					0	0	1	0	0
MED27	9442	broad.mit.edu	37	9	134814811	134814811	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:134814811G>A	ENST00000292035.5	-	4	593	c.530C>T	c.(529-531)tCc>tTc	p.S177F	MED27_ENST00000357028.2_Missense_Mutation_p.S139F|MED27_ENST00000372184.3_Missense_Mutation_p.S177F	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	177					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		TAAGTGGATGGACATTTCAGG	0.408000													17	52					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	101038499	101038499	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:101038499C>T	ENST00000193391.7	-	2	450	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	88					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTTCACTCCATTAGGAAA	0.443000													50	134					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49671485	49671485	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:49671485G>A	ENST00000561648.1	-	4	1631	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	ZNF423_ENST00000535559.1_Silent_p.F409F|ZNF423_ENST00000567169.1_Silent_p.F409F|ZNF423_ENST00000562520.1_Silent_p.F466F|ZNF423_ENST00000262383.2_Silent_p.F526F|ZNF423_ENST00000562871.1_Silent_p.F466F|ZNF423_ENST00000563137.2_Silent_p.F466F	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	526					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTCAGTAAGGAAACCCATGG	0.592000													19	70					0	0	1	0	0
SMG9	56006	broad.mit.edu	37	19	44251828	44251828	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:44251828G>A	ENST00000601170.1	-	4	761	c.447C>T	c.(445-447)atC>atT	p.I149I	SMG9_ENST00000270066.6_Silent_p.I149I			Q9H0W8	SMG9_HUMAN	SMG9 nonsense mediated mRNA decay factor	149					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	intracellular	protein binding			kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2)	19						CCCGGTTCTGGATCTGGTACA	0.667000													6	18					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233759548	233759548	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:233759548C>T	ENST00000264051.3	-	6	1185	c.907G>A	c.(907-909)Gag>Aag	p.E303K	NGEF_ENST00000539537.1_Missense_Mutation_p.E26K|NGEF_ENST00000409079.1_Missense_Mutation_p.E211K|NGEF_ENST00000373552.4_Missense_Mutation_p.E211K	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	303	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTTATCCGCTCGTTCTCCATG	0.602000													27	128					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111470502	111470502	+	Splice_Site	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:111470502G>A	ENST00000265162.5	+	15	2494	c.2151_splice	c.e15-1	p.E718_splice		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	718					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTTATTTCAGGAATACTTCCA	0.338000													14	45					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	672746	672746	+	Splice_Site	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:672746G>A	ENST00000506838.1	+	4	2512		c.e4-1		MYL5_ENST00000400159.2_Splice_Site|MYL5_ENST00000505477.1_Splice_Site|MYL5_ENST00000511290.1_Splice_Site			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory						regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						TTGGTCCCCAGGCATTCACAC	0.622000													37	104					0	0	1	0	0
DFNB59	494513	broad.mit.edu	37	2	179319116	179319116	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:179319116G>A	ENST00000409117.3	+	3	625	c.269G>A	c.(268-270)gGa>gAa	p.G90E	DFNB59_ENST00000375129.4_Missense_Mutation_p.G90E	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	90					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCACTCTATGGAAGGCGAGGT	0.323000													24	88					0	0	1	0	0
DAP3	7818	broad.mit.edu	37	1	155707950	155707950	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:155707950C>T	ENST00000368336.5	+	13	1238	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000343043.3_Missense_Mutation_p.P372S|DAP3_ENST00000535183.1_Missense_Mutation_p.P331S|DAP3_ENST00000421487.2_Missense_Mutation_p.P338S	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	372					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CATTTTAGCTCCTACAGAAGA	0.498000													24	46					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868980	150868980	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:150868980G>A	ENST00000370353.3	+	4	561	c.171G>A	c.(169-171)atG>atA	p.M57I	PRRG3_ENST00000538575.1_Missense_Mutation_p.M57I|PRRG3_ENST00000370354.1_3'UTR			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	57	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCAGATGGAGTTCTGGA	0.532000													61	245					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10436610	10436610	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:10436610C>T	ENST00000245503.5	-	21	2817	c.2433G>A	c.(2431-2433)gtG>gtA	p.V811V	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.V811V	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	811	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ACCTTCTCTCCACCATCCTCT	0.433000													29	109					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811252	7811252	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:7811252C>T	ENST00000381059.3	+	2	227	c.8C>T	c.(7-9)cCa>cTa	p.P3L	VCX_ENST00000341408.4_Missense_Mutation_p.P3L	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	3					chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AAGATGAGTCCAAAGCCGAGA	0.612000													27	187					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57185969	57185969	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:57185969C>T	ENST00000343433.6	-	18	2088	c.2008G>A	c.(2008-2010)Gtg>Atg	p.V670M		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	670										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAACAGGCCACTGCTGTATTG	0.328000													17	75					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119745847	119745847	+	Missense_Mutation	SNP	G	G	A	rs142063505		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:119745847G>A	ENST00000379735.5	-	3	447	c.176C>T	c.(175-177)cCg>cTg	p.P59L	SEC24D_ENST00000280551.6_Missense_Mutation_p.P59L|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	59	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TGGGGGACCCGGAGGCAACAT	0.542000													57	163					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14816323	14816323	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:14816323C>T	ENST00000181796.2	-	1	573	c.340G>A	c.(340-342)Gat>Aat	p.D114N		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCGCCCCATCATCCAGGGAC	0.572000													47	121					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170042106	170042106	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:170042106A>T	ENST00000263816.3	-	50	10037	c.9752T>A	c.(9751-9753)aTt>aAt	p.I3251N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3251					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTCTCTCAATGACTTGCCT	0.413000													23	95					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31569635	31569635	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:31569635C>T	ENST00000379416.3	-	30	3399	c.3351_splice	c.e30+1	p.W1117_splice		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1117					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCAGACTTACCCAGTCTTCCC	0.493000													45	165					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6925345	6925345	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:6925345G>A	ENST00000011653.4	+	6	989	c.731G>A	c.(730-732)aGg>aAg	p.R244K	CD4_ENST00000538827.1_3'UTR|CD4_ENST00000541982.1_3'UTR	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	244	Ig-like C2-type 2.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAGGCGGAGAGGGCTTCCTCC	0.537000													42	136					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4294628	4294628	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:4294628G>A	ENST00000301272.2	-	4	543	c.498C>T	c.(496-498)atC>atT	p.I166I	TMIGD2_ENST00000600349.1_Intron|TMIGD2_ENST00000595645.1_Silent_p.I166I|TMIGD2_ENST00000600114.1_Silent_p.I46I	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	166						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCCCACACGATCGCAGCCA	0.627000													109	376					0	0	1	0	0
SMAP1	60682	broad.mit.edu	37	6	71501429	71501429	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:71501429C>T	ENST00000370455.3	+	5	700	c.452C>T	c.(451-453)tCc>tTc	p.S151F	SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	151					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						CCTTTGGTATCCTCTCCTTCT	0.388000													31	125					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				40	72					0	0	1	0	0
ACAT2	39	broad.mit.edu	37	6	160188079	160188079	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:160188079G>A	ENST00000367048.4	+	3	1993	c.233G>A	c.(232-234)gGa>gAa	p.G78E	ACAT2_ENST00000541436.1_Missense_Mutation_p.G107E	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	78						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GTGGGTGCAGGAATTCCCTAC	0.502000													37	114					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952101	196952101	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:196952101G>A	ENST00000367414.5	+	2	273	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	CFHR5_ENST00000256785.4_Missense_Mutation_p.E49K	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	49	Sushi 1.				complement activation, alternative pathway	extracellular region		p.E49K(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCCTACAGGGGAAGTTTTCTA	0.373000													26	117					0	0	1	0	0
HLA-DRB1	3123	broad.mit.edu	37	6	32548633	32548633	+	Splice_Site	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:32548633C>T	ENST00000360004.5	-	4	758	c.652_splice	c.e4-1	p.R218_splice		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGACCGTGCTCCTGAGAGAGG	0.498000										Multiple Myeloma(14;0.17)			9	183					0	0	1	0	0
MYL5	4636	broad.mit.edu	37	4	672747	672747	+	Splice_Site	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:672747G>A	ENST00000400159.2	+	3	217	c.111_splice	c.e3-1	p.A38_splice	MYL5_ENST00000505477.1_5'UTR|MYL5_ENST00000511290.1_5'UTR|MYL5_ENST00000506838.1_5'UTR	NM_002477.1	NP_002468.1	Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	38	EF-hand 1.				regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						TGGTCCCCAGGCATTCACACT	0.617000													35	108					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096740	51096740	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:51096740G>A	ENST00000395542.2	-	12	2483	c.2299C>T	c.(2299-2301)Cca>Tca	p.P767S	COBL_ENST00000265136.7_Missense_Mutation_p.P685S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	685										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATGATGTTGGTGCCAAGGCA	0.502000													20	128					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156457	155156457	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:155156457C>T	ENST00000357232.3	-	25	7981	c.7982G>A	c.(7981-7983)aGa>aAa	p.R2661K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2661					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2661I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGAGCACTTTCTGTAGGGATG	0.517000													17	80					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048778	238048778	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:238048778G>A	ENST00000366570.4	-	8	1231	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	358	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCCCAGGTAGGGGTCTGTTCT	0.537000													23	97					0	0	1	0	0
KIFC1	3833	broad.mit.edu	37	6	33373371	33373371	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:33373371C>T	ENST00000428849.2	+	7	1949	c.1499C>T	c.(1498-1500)aCc>aTc	p.T500I		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	500	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CTCACTGTCACCAATGCTCGA	0.612000													10	35					0	0	1	0	0
SPATA20	64847	broad.mit.edu	37	17	48631752	48631752	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:48631752C>T	ENST00000006658.6	+	15	2218	c.2098C>T	c.(2098-2100)Ccg>Tcg	p.P700S	SPATA20_ENST00000393244.3_Missense_Mutation_p.P640S|SPATA20_ENST00000356488.4_Missense_Mutation_p.P684S|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	684					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GCGTCGTGTCCCGGTGGCGTT	0.652000													30	130					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52859924	52859924	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:52859924G>A	ENST00000266041.4	-	6	833	c.737C>T	c.(736-738)gCc>gTc	p.A246V	ITIH4_ENST00000434759.3_Missense_Mutation_p.A158V|ITIH4_ENST00000406595.1_Missense_Mutation_p.A246V|ITIH4_ENST00000485816.1_Missense_Mutation_p.A246V|ITIH4_ENST00000346281.5_Missense_Mutation_p.A246V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	246					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCCGGAGATGGCCCGGTCCAC	0.557000													19	64					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997231	146997231	+	Splice_Site	SNP	A	A	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:146997231A>G	ENST00000361727.3	+	9	1864		c.e9-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTACTTACCAGGTTCTGGGT	0.368000										HNSCC(39;0.1)			52	100					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72968784	72968784	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:72968784T>G	ENST00000264839.7	+	18	3023	c.3023T>G	c.(3022-3024)gTg>gGg	p.V1008G	RIMS1_ENST00000523963.1_Missense_Mutation_p.V482G|RIMS1_ENST00000520567.1_Missense_Mutation_p.V1007G|RIMS1_ENST00000491071.2_Missense_Mutation_p.V1008G|RIMS1_ENST00000401910.3_Missense_Mutation_p.V481G|RIMS1_ENST00000521978.1_Missense_Mutation_p.V1008G|RIMS1_ENST00000425662.2_Missense_Mutation_p.V401G|RIMS1_ENST00000518273.1_Missense_Mutation_p.V1008G|RIMS1_ENST00000517960.1_Missense_Mutation_p.V1007G|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000517827.1_Missense_Mutation_p.V467G|RIMS1_ENST00000348717.5_Missense_Mutation_p.V1007G|RIMS1_ENST00000522291.1_Missense_Mutation_p.V1007G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1008					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACCAGAGATGTGGATAGTCAG	0.358000													18	68					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499973	62499973	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:62499973G>A	ENST00000225792.5	-	5	856	c.455C>T	c.(454-456)gCc>gTc	p.A152V	DDX5_ENST00000578804.1_Missense_Mutation_p.A152V|DDX5_ENST00000450599.2_Intron	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	152	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GTGGACAATGGCAGGAAGCAA	0.328000			T	ETV4	prostate								13	73					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799133	45799133	+	Silent	SNP	C	C	T	rs116114711	byFrequency	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:45799133C>T	ENST00000553795.1	-	4	1046	c.738G>A	c.(736-738)gtG>gtA	p.V246V	OR13A1_ENST00000374401.2_Silent_p.V246V|OR13A1_ENST00000536058.1_Silent_p.V246V	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGGCAGTCTTCACCTTCAGGA	0.542000													28	66					0	0	1	0	0
XRCC4	7518	broad.mit.edu	37	5	82400766	82400766	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:82400766C>T	ENST00000282268.3	+	2	203	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	XRCC4_ENST00000509268.1_3'UTR|XRCC4_ENST00000396027.4_Missense_Mutation_p.L10F|XRCC4_ENST00000338635.6_Missense_Mutation_p.L10F|XRCC4_ENST00000511817.1_Missense_Mutation_p.L10F	NM_003401.3|NM_022406.2|NM_022550.2	NP_003392.1|NP_071801.1|NP_072044.1	Q13426	XRCC4_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 4	10					DNA ligation involved in DNA repair|double-strand break repair via nonhomologous end joining|initiation of viral infection|positive regulation of ligase activity|provirus integration|response to X-ray	cytosol|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|nucleoplasm	DNA binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(2)|skin(3)	17		Lung NSC(167;0.00132)|all_lung(232;0.00154)|Ovarian(174;0.034)		OV - Ovarian serous cystadenocarcinoma(54;1.44e-38)|Epithelial(54;3.72e-33)|all cancers(79;9.22e-28)		CAGAATCCACCTTGTTTCTGA	0.318000								Non-homologous end-joining					17	100					0	0	1	0	0
SREBF1	6720	broad.mit.edu	37	17	17722528	17722528	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:17722528G>A	ENST00000355815.4	-	6	1126	c.957C>T	c.(955-957)acC>acT	p.T319T	SREBF1_ENST00000338854.5_Silent_p.T289T|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000261646.5_Silent_p.T289T|SREBF1_ENST00000395757.1_Silent_p.T35T|SREBF1_ENST00000435530.2_Silent_p.T289T	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	289	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTGCCAAGATGGTTCCGCCAC	0.627000													21	103					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640703	29640703	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:29640703C>T	ENST00000376883.1	-	6	1536	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	ZFP57_ENST00000376881.3_Silent_p.K375K|ZFP57_ENST00000488757.1_Silent_p.K395K			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	311					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GATAGGATTTCTTGCTAAAAG	0.502000													94	360					0	0	1	0	0
RGAG4	340526	broad.mit.edu	37	X	71351063	71351063	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:71351063C>T	ENST00000545866.1	-	1	695	c.328G>A	c.(328-330)Gat>Aat	p.D110N	RGAG4_ENST00000479991.1_Missense_Mutation_p.D110N|NHSL2_ENST00000540800.1_Intron			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	110										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GTGCTGCGATCCTGGATCACG	0.687000													5	24					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913722	77913722	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:77913722C>T	ENST00000321110.1	-	2	491	c.196G>A	c.(196-198)Gag>Aag	p.E66K		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	66	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTCATGTGCTCTGGGAGCTTC	0.582000													8	38					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231134620	231134620	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:231134620G>A	ENST00000392045.3	+	14	1510	c.1396G>A	c.(1396-1398)Gga>Aga	p.G466R	SP140_ENST00000417495.3_Missense_Mutation_p.G352R|SP140_ENST00000486687.2_Missense_Mutation_p.G390R|SP140_ENST00000420434.3_Missense_Mutation_p.G439R|SP140_ENST00000350136.5_Missense_Mutation_p.G335R|SP140_ENST00000343805.6_Missense_Mutation_p.G406R	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	466					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGGTGCCAGGAAGCCCAGA	0.527000													23	72					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38820560	38820560	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:38820560G>A	ENST00000359357.3	+	38	5160	c.4906G>A	c.(4906-4908)Gga>Aga	p.G1636R	DNAH8_ENST00000441566.1_Missense_Mutation_p.G1636R|DNAH8_ENST00000449981.2_Missense_Mutation_p.G1853R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCAAGAGAAGGAGAAAAAAT	0.343000													22	55					0	0	1	0	0
POC1A	25886	broad.mit.edu	37	3	52183327	52183327	+	Silent	SNP	G	G	A	rs150866318	byFrequency	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:52183327G>A	ENST00000394970.2	-	4	671	c.354C>T	c.(352-354)ttC>ttT	p.F118F	POC1A_ENST00000296484.2_Silent_p.F118F|POC1A_ENST00000474012.1_Silent_p.F80F	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	118						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGGCTGTCACGAAGGACTGGC	0.537000													26	68					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160961213	160961213	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:160961213G>A	ENST00000447678.1	-	37	5717	c.5597C>T	c.(5596-5598)tCc>tTc	p.S1866F	LPA_ENST00000484276.1_5'UTR|LPA_ENST00000316300.5_Missense_Mutation_p.S1866F	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4374	Kringle 17.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGGCCTTGAGGACCTAGAAAA	0.502000													26	81					0	0	1	0	0
EGFL8	80864	broad.mit.edu	37	6	32134488	32134488	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:32134488C>A	ENST00000395512.1	+	4	340	c.235C>A	c.(235-237)Cgc>Agc	p.R79S	EGFL8_ENST00000333845.6_Missense_Mutation_p.R79S|PPT2-EGFL8_ENST00000422437.1_3'UTR			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	79	EMI.					extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						GACCATGTACCGCGTTATGTG	0.642000													20	68					4.35082e-09	4.42318e-09	1	1	0
NAALADL2	254827	broad.mit.edu	37	3	175473127	175473127	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:175473127C>T	ENST00000454872.1	+	13	2238	c.2110C>T	c.(2110-2112)Cgc>Tgc	p.R704C		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	704					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AGCACCCATCCGCATCCGGAT	0.483000													7	36					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	419390	419390	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:419390G>A	ENST00000354200.4	-	8	1199	c.1052C>T	c.(1051-1053)cCt>cTt	p.P351L	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	351					interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				TCGATCTTCAGGCCGCAGAAG	0.567000													54	173					0	0	1	0	0
FCER1A	2205	broad.mit.edu	37	1	159275885	159275885	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:159275885A>G	ENST00000368115.1	+	5	538	c.439A>G	c.(439-441)Aag>Gag	p.K147E	FCER1A_ENST00000368114.1_Missense_Mutation_p.K114E	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	147	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GATCTATTATAAGGATGGTGA	0.502000													67	92					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54675685	54675685	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:54675685G>A	ENST00000376591.4	-	2	396	c.265C>T	c.(265-267)Cct>Tct	p.P89S	TMC4_ENST00000301187.4_Missense_Mutation_p.P83S|TMC4_ENST00000476013.2_5'UTR	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	89						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCCCGGGAAGGGTGAGGGTCC	0.682000													20	112					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55034809	55034809	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:55034809G>A	ENST00000505374.1	+	2	110	c.18G>A	c.(16-18)tgG>tgA	p.W6*	SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000514278.2_Nonsense_Mutation_p.W6*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.W6*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.W6*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	6					multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGAAGATTGGGAAGCAGAAA	0.308000													29	73					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70155434	70155434	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:70155434C>T	ENST00000335568.5	+	4	1056	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	352					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TCTCAATACTCGGCTGTATAA	0.363000													27	132					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255304	5255304	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:5255304G>A	ENST00000380299.3	-	2	446	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	HBD_ENST00000292901.3_Missense_Mutation_p.H78Y	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	78					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGTCCAGGTGAGCCAGGCCA	0.542000													33	126					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78426128	78426128	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:78426128G>A	ENST00000370767.1	-	15	1484	c.1397C>T	c.(1396-1398)cCa>cTa	p.P466L	FUBP1_ENST00000436586.2_Missense_Mutation_p.P487L|FUBP1_ENST00000370768.2_Missense_Mutation_p.P466L			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	466	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATGGGGGCCTGGGACACCATG	0.547000			"""F, N"""		oligodendroglioma								7	36					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669127	234669127	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:234669127C>T	ENST00000360418.3	+	1	194	c.194C>T	c.(193-195)tCg>tTg	p.S65L	UGT1A5_ENST00000373414.3_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000305208.5_Missense_Mutation_p.S65L|UGT1A4_ENST00000373409.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A8_ENST00000373450.4_Intron			P22309	UD11_HUMAN		65					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTGACGCCTCGTTGTACATC	0.517000													37	129					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77305543	77305543	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:77305543C>T	ENST00000388914.3	-	5	576	c.424G>A	c.(424-426)Gat>Aat	p.D142N	CCDC158_ENST00000434846.2_Missense_Mutation_p.D142N	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	142								p.D142Y(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTTCTTAAATCCTCCTGGGAC	0.353000													22	59					0	0	1	0	0
GSTM2	2946	broad.mit.edu	37	1	110211916	110211916	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:110211916C>T	ENST00000369831.2	+	4	276	c.182C>T	c.(181-183)cCc>cTc	p.P61L	GSTM2_ENST00000460717.3_Missense_Mutation_p.P61L|GSTM2_ENST00000369829.2_Missense_Mutation_p.P61L|GSTM2_ENST00000241337.4_Missense_Mutation_p.P61L|GSTM2_ENST00000442650.1_Missense_Mutation_p.P61L|GSTM2_ENST00000369827.3_Missense_Mutation_p.P59L|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000464206.1_3'UTR					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		ATCCAGCTGCCCTACTTGATT	0.562000													47	225					0	0	1	0	0
MARVELD3	91862	broad.mit.edu	37	16	71674836	71674836	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:71674836G>A	ENST00000299952.4	+	3	1182	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.2	NP_001017967.2	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	383	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572000													18	62					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7963170	7963170	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:7963170G>A	ENST00000246024.2	-	8	993	c.778C>T	c.(778-780)Ctt>Ttt	p.L260F		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	260	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tcatctacaaggctgtctttg	0.468000													15	53					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581416	82581416	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:82581416C>T	ENST00000423517.2	-	5	9190	c.8853G>A	c.(8851-8853)agG>agA	p.R2951R	PCLO_ENST00000333891.8_Silent_p.R2951R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2882					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGTGCAGCTCCTTCCAAATG	0.433000													72	136					0	0	1	0	0
CREBRF	153222	broad.mit.edu	37	5	172517676	172517676	+	Missense_Mutation	SNP	A	A	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:172517676A>G	ENST00000540014.1	+	4	813	c.494A>G	c.(493-495)cAa>cGa	p.Q165R	CREBRF_ENST00000522692.1_Missense_Mutation_p.Q165R|CREBRF_ENST00000520420.1_Missense_Mutation_p.Q165R|CREBRF_ENST00000296953.2_Missense_Mutation_p.Q165R			Q8IUR6	CE041_HUMAN	CREB3 regulatory factor	165							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity										AGTGTCAAACAAAATCCCTTA	0.423000													14	62					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38104269	38104269	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:38104269C>T	ENST00000308059.6	+	5	1092	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	DLEC1_ENST00000452631.2_Silent_p.F357F|DLEC1_ENST00000469151.1_3'UTR|DLEC1_ENST00000346219.3_Silent_p.F357F			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	357					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TAGGAGAATTCCAGAGTACAG	0.463000													15	61					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136402608	136402608	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:136402608G>A	ENST00000393061.3	+	3	931	c.499G>A	c.(499-501)Gcg>Acg	p.A167T	ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.A58T|ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.A58T			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	58					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAAGTGGACGGCGTGTTCCCG	0.677000													20	50					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39103801	39103801	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:39103801A>T	ENST00000297668.6	-	16	2549	c.2476T>A	c.(2476-2478)Tcc>Acc	p.S826T	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S738T|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S825T	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	826	Laminin G-like 3.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACCCCGGAGGAAACTGTGGTC	0.483000													15	27					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587635	179587635	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:179587635G>A	ENST00000589042.1	-	76	22215	c.21991C>T	c.(21991-21993)Cct>Tct	p.P7331S	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P7014S|TTN_ENST00000342992.6_Missense_Mutation_p.P6087S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7014	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTCCAGAGGTTCCAGTTCC	0.408000													13	27					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7606100	7606100	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:7606100T>G	ENST00000316024.5	+	8	3552	c.1204T>G	c.(1204-1206)Tac>Gac	p.Y402D	WRAP53_ENST00000431639.2_Missense_Mutation_p.Y402D|WRAP53_ENST00000457584.2_Missense_Mutation_p.Y402D|WRAP53_ENST00000534050.1_Missense_Mutation_p.Y369D|WRAP53_ENST00000396463.2_Missense_Mutation_p.Y402D			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	402					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GCAGTCTGGTTACCCACTGTG	0.607000													18	69					0	0	1	0	0
VWA8	23078	broad.mit.edu	37	13	42249362	42249362	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr13:42249362G>A	ENST00000379310.3	-	36	4466	c.4398C>T	c.(4396-4398)atC>atT	p.I1466I		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		TGGGAATAGGGATATATCGGA	0.338000													14	42					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142460761	142460761	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:142460761G>A	ENST00000486171.1	+	6	693	c.676G>A	c.(676-678)Gga>Aga	p.G226R	PRSS1_ENST00000311737.7_Missense_Mutation_p.G212R			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	212	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACAGCTCCAAGGAGTTGTCTC	0.502000													29	138					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10188768	10188768	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:10188768C>T	ENST00000380833.4	+	12	2434	c.2043C>T	c.(2041-2043)ccC>ccT	p.P681P	CLCN4_ENST00000380829.1_Silent_p.P650P|CLCN4_ENST00000421085.2_Silent_p.P587P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	681						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGAACCCCCCGAGCTGCCGG	0.582000													52	213					0	0	1	0	0
LINC01410	103352539	broad.mit.edu	37	9	66459908	66459908	+	RNA	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:66459908C>A	ENST00000424345.1	+	0	168																											acattaaaatcttgggcatgc	0.373000													3	24					1	1	1	1	0
OR1D2	4991	broad.mit.edu	37	17	2996249	2996249	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:2996249G>A	ENST00000331459.1	-	1	41	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	14					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ACATCCCCAGGAGAAGGAACT	0.478000													35	123					0	0	1	0	0
ZCCHC9	84240	broad.mit.edu	37	5	80600692	80600692	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:80600692G>C	ENST00000254037.2	+	1	3271	c.116G>C	c.(115-117)cGt>cCt	p.R39P	ZCCHC9_ENST00000438268.2_Missense_Mutation_p.R39P|ZCCHC9_ENST00000380199.5_Missense_Mutation_p.R39P|ZCCHC9_ENST00000407610.3_Missense_Mutation_p.R39P|ZCCHC9_ENST00000506458.1_Intron			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	39							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CTACCAAAGCGTAAACAACTT	0.403000													22	98					0	0	1	0	0
FAM212B	55924	broad.mit.edu	37	1	112270124	112270124	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:112270124G>A	ENST00000357260.5	-	2	541	c.360C>T	c.(358-360)ccC>ccT	p.P120P	FAM212B_ENST00000534365.1_Intron|FAM212B_ENST00000444059.2_Silent_p.P105P	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	120										cervix(1)|endometrium(1)	2						GCTGTGTCCTGGGCAAGGGGG	0.597000													28	70					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25281310	25281310	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr13:25281310C>T	ENST00000218548.6	+	16	2670	c.2337C>T	c.(2335-2337)atC>atT	p.I779I	ATP12A_ENST00000381946.3_Silent_p.I773I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	773					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCGCATCCATCGTCACAGGGG	0.537000													23	73					0	0	1	0	0
ENC1	8507	broad.mit.edu	37	5	73931048	73931048	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:73931048G>A	ENST00000302351.4	-	2	2393	c.1263C>T	c.(1261-1263)atC>atT	p.I421I	ENC1_ENST00000510316.1_Silent_p.I348I|ENC1_ENST00000537006.1_Silent_p.I421I	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	421					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCCATTTGTTGATTGTGGGGT	0.552000													32	103					0	0	1	0	0
VRK1	7443	broad.mit.edu	37	14	97313612	97313612	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:97313612C>T	ENST00000216639.3	+	5	454	c.305C>T	c.(304-306)aCc>aTc	p.T102I		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	102	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TGGATTCGTACCCGTAAGCTG	0.313000													12	53					0	0	1	0	0
NR1H4	9971	broad.mit.edu	37	12	100904796	100904796	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:100904796C>T	ENST00000548884.1	+	4	861	c.320C>T	c.(319-321)cCt>cTt	p.P107L	NR1H4_ENST00000188403.7_Missense_Mutation_p.P117L|NR1H4_ENST00000392986.3_Missense_Mutation_p.P107L|NR1H4_ENST00000551379.1_Missense_Mutation_p.P117L|NR1H4_ENST00000549996.1_Missense_Mutation_p.P107L	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	117					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GCAGAGATGCCTGTAACAAAG	0.527000													30	75					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883855	152883855	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:152883855G>A	ENST00000368764.3	+	2	1646	c.1582G>A	c.(1582-1584)Ggg>Agg	p.G528R	IVL_ENST00000392667.2_Missense_Mutation_p.G382R			P07476	INVO_HUMAN	involucrin	528	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gcagcaggaggggcagctgaa	0.602000													8	47					0	0	1	0	0
CNOT7	29883	broad.mit.edu	37	8	17090013	17090013	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:17090013G>A	ENST00000361272.4	-	6	950	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	CNOT7_ENST00000523917.1_Silent_p.L218L	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	218					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		ATCCGTTCCAGCTCTAACTGT	0.383000													45	146					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49725254	49725254	+	Silent	SNP	G	G	A	rs113355022		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:49725254G>A	ENST00000449682.2	-	2	532	c.171C>T	c.(169-171)ccC>ccT	p.P57P	MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Silent_p.P43P	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	43	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCAAGGCCCGGGCACCACCG	0.607000													4	68					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596076	58596076	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:58596076G>A	ENST00000240727.6	-	7	1908	c.1509C>T	c.(1507-1509)ccC>ccT	p.P503P	ZSCAN18_ENST00000600404.1_Silent_p.P559P|ZSCAN18_ENST00000601144.1_Silent_p.P503P|ZSCAN18_ENST00000421612.2_Silent_p.P367P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	503					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CTGGGGGTGCGGGGGGAGCCT	0.756000													3	11					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286031	152286031	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:152286031C>T	ENST00000368799.1	-	3	1366	c.1331G>A	c.(1330-1332)gGg>gAg	p.G444E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	444	Ser-rich.		G -> R (in dbSNP:rs11588170).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCTCAGCCCAGCCTTTCC	0.582000									Ichthyosis				95	416					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25621443	25621443	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:25621443G>A	ENST00000262394.2	+	1	338	c.22G>A	c.(22-24)Gtc>Atc	p.V8I	WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000348811.2_Missense_Mutation_p.V8I|WSB1_ENST00000581185.1_Missense_Mutation_p.V8I|WSB1_ENST00000579733.1_Missense_Mutation_p.V8I|WSB1_ENST00000583193.1_Missense_Mutation_p.V8I|WSB1_ENST00000427287.2_Missense_Mutation_p.V8I	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	8					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TCCCCCGAGGGTCAACGAGAA	0.627000													26	170					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9515689	9515689	+	Silent	SNP	C	C	T	rs139171654		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:9515689C>T	ENST00000352665.5	+	8	987	c.918C>T	c.(916-918)ctC>ctT	p.L306L	WDR16_ENST00000299764.5_Silent_p.L316L|WDR16_ENST00000396219.3_Silent_p.L238L	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	306						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.L306L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACCAGTTTCTCGTAGGAACAG	0.438000													21	81					0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20471613	20471613	+	Splice_Site	SNP	G	G	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:20471613G>T	ENST00000573854.1	+	2	291	c.177_splice	c.e2+1	p.K59_splice	ACSM2A_ENST00000396104.2_Splice_Site_p.K59_splice|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000575690.1_Splice_Site_p.K59_splice|ACSM2A_ENST00000424070.1_Splice_Site_p.K59_splice|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000219054.6_Splice_Site_p.K59_splice	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	59					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACATGGAGAAGGTAATGGGGT	0.418000													9	35					0.00621372	0.00622645	1	1	0
OR51F2	119694	broad.mit.edu	37	11	4843356	4843356	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:4843356G>A	ENST00000322110.5	+	1	806	c.741G>A	c.(739-741)gaG>gaA	p.E247E	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCAGAAGAGAGGCGGAAAG	0.493000													26	76					0	0	1	0	0
GRM5	2915	broad.mit.edu	37	11	88241878	88241878	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:88241878T>G	ENST00000418177.2	-	10	3888	c.3521A>C	c.(3520-3522)gAc>gCc	p.D1174A	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Missense_Mutation_p.D904A|GRM5_ENST00000455756.2_Missense_Mutation_p.D1142A|GRM5_ENST00000305447.4_Missense_Mutation_p.D1174A|GRM5_ENST00000305432.5_Missense_Mutation_p.D1142A			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1174					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GCTCCCCGAGTCCACCGAGTC	0.642000													7	26					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10451089	10451089	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:10451089C>T	ENST00000245503.5	-	3	533	c.149G>A	c.(148-150)gGg>gAg	p.G50E	MYH2_ENST00000532183.1_Missense_Mutation_p.G50E|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G50E	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	50	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGATGGTCCCTTTGACAAA	0.493000													43	156					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3985783	3985783	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:3985783C>T	ENST00000381638.2	-	17	2786	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	888							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCTTGTGCTCCTGCTCGGTG	0.423000													10	40					0	0	1	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174200364	174200364	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:174200364G>C	ENST00000251507.4	+	4	587	c.413G>C	c.(412-414)gGa>gCa	p.G138A	RABGAP1L_ENST00000367689.3_5'UTR|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G101A	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	138	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ACCTACTTAGGATGTATGAAG	0.398000													64	102					0	0	1	0	0
USHBP1	83878	broad.mit.edu	37	19	17366232	17366232	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:17366232C>T	ENST00000252597.3	-	10	1827	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	AC010646.3_ENST00000594059.1_5'UTR|USHBP1_ENST00000431146.2_Missense_Mutation_p.G488R	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	552							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTGCCACCTCCGCTGCTATGT	0.622000													28	147					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41199882	41199882	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:41199882G>A	ENST00000263413.3	-	4	697	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	C6_ENST00000337836.5_Missense_Mutation_p.R145C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	145	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTGTCACAGCGAAATTTATTC	0.413000													22	110					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678333	25678333	+	Missense_Mutation	SNP	C	C	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:25678333C>A	ENST00000382051.3	+	13	2085	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T	SLC34A2_ENST00000504570.1_Missense_Mutation_p.P678T|SLC34A2_ENST00000503434.1_Missense_Mutation_p.P678T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	679					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGGTGAGGTCCCTGCCTCGGA	0.582000			T	ROS1	NSCLC								14	71					6.72482e-11	6.85091e-11	1	1	0
ESCO2	157570	broad.mit.edu	37	8	27633957	27633957	+	Missense_Mutation	SNP	A	A	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:27633957A>T	ENST00000305188.8	+	3	370	c.132A>T	c.(130-132)gaA>gaT	p.E44D	ESCO2_ENST00000397418.2_5'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	44					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		ATAAAAATGAAGAAAACCTGC	0.333000									SC Phocomelia syndrome				14	25					0	0	1	0	0
COX7C	1350	broad.mit.edu	37	5	85915198	85915198	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:85915198G>A	ENST00000509578.1	+	2	204	c.104G>A	c.(103-105)tGg>tAg	p.W35*	COX7C_ENST00000247655.3_Nonsense_Mutation_p.W35*|COX7C_ENST00000513124.1_3'UTR|COX7C_ENST00000515763.1_Nonsense_Mutation_p.W35*			P15954	COX7C_HUMAN	cytochrome c oxidase subunit VIIc	35					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		GAAAACAAGTGGTCGTTACTA	0.338000													32	125					0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134158066	134158066	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:134158066C>T	ENST00000356571.4	+	4	518	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LRRC27_ENST00000368610.3_Silent_p.L93L|LRRC27_ENST00000368612.1_Silent_p.L93L|LRRC27_ENST00000392638.2_Silent_p.L155L|LRRC27_ENST00000368614.3_Silent_p.L155L|LRRC27_ENST00000368615.3_Silent_p.L155L|LRRC27_ENST00000432555.2_Silent_p.L28L|LRRC27_ENST00000368613.4_Silent_p.L155L|LRRC27_ENST00000344079.5_Silent_p.L155L			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	16										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTCCTCAGCTCGTTGTGCAGA	0.512000													35	78					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111263901	111263901	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:111263901G>A	ENST00000352690.4	+	2	310	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K	CD96_ENST00000283285.5_Missense_Mutation_p.E24K|CD96_ENST00000438817.2_Missense_Mutation_p.E24K	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	24					cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.E24K(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AGGAGTTTGGGAAAAAACAGT	0.403000									Opitz Trigonocephaly syndrome				24	112					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19322804	19322804	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:19322804C>T	ENST00000328405.2	+	3	691	c.425C>T	c.(424-426)cCa>cTa	p.P142L		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	142	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAGATTACTCCAGAAGATAAA	0.328000													30	82					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56244443	56244443	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:56244443G>A	ENST00000332836.2	-	2	781	c.754C>T	c.(754-756)Cca>Tca	p.P252S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	252	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATTGGCATTGGCTGCCGCTGC	0.423000													12	63					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694975	26694975	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:26694975C>T	ENST00000436292.1	-	2	208	c.88G>A	c.(88-90)Gac>Aac	p.D30N	ZNF683_ENST00000349618.3_Missense_Mutation_p.D30N|ZNF683_ENST00000403843.1_Missense_Mutation_p.D30N|ZNF683_ENST00000374204.1_Missense_Mutation_p.D30N			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	30					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGCTGGAAGTCCAGGCTGGGG	0.532000													24	95					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	41978654	41978654	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:41978654G>A	ENST00000372584.1	-	7	7252	c.6238C>T	c.(6238-6240)Cca>Tca	p.P2080S	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P2080S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P2080S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P2080S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2080	6 X 4 AA tandem repeats of S-P-X-[RK].				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GACCGTGGTGGTGACTCGGCC	0.687000													8	26					0	0	1	0	0
MZB1	51237	broad.mit.edu	37	5	138724328	138724328	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:138724328G>A	ENST00000457570.2	-	2	246	c.206C>T	c.(205-207)cCc>cTc	p.P69L	MZB1_ENST00000412103.2_Intron|MZB1_ENST00000302125.8_Intron			Q8WU39	PERP1_HUMAN	marginal zone B and B1 cell-specific protein	0					apoptosis|positive regulation of immunoglobulin biosynthetic process	cytoplasm|endoplasmic reticulum chaperone complex	protein binding										CTCAGTTAGGGGGAGGTGGGG	0.557000													4	12					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50475346	50475346	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:50475346C>T	ENST00000228468.4	+	12	2024	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	ASIC1_ENST00000552438.1_Missense_Mutation_p.R535W|ASIC1_ENST00000447966.2_Missense_Mutation_p.R501W	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	501					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CGAGAGCCTTCGGGGCCACCC	0.652000													12	53					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811068	106811068	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:106811068G>A	ENST00000407775.2	+	7	1106	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E17K|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E154K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E154K|RP11-152P17.2_ENST00000509144.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	286					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGTGTCAGAGGAAAATGAAGA	0.517000													30	109					0	0	1	0	0
PAGR1	79447	broad.mit.edu	37	16	29827930	29827930	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:29827930C>T	ENST00000320330.6	+	1	646	c.84C>T	c.(82-84)ctC>ctT	p.L28L	AC009133.20_ENST00000569039.1_RNA	NM_024516.3	NP_078792.1			PAXIP1 associated glutamate-rich protein 1																		CCTCCGGCCTCCAGGCTCTGG	0.687000											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62793422	62793422	+	RNA	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:62793422G>A	ENST00000582986.1	-	0	1908					NR_024386.1																						GATCCTGGCCGGAATCACTGA	0.582000													10	30					0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223682	35223682	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:35223682C>T	ENST00000338513.1	+	2	924	c.751C>T	c.(751-753)Ctg>Ttg	p.L251L		NM_005268.3	NP_005259.1	O95377	CXB5_HUMAN	gap junction protein, beta 5, 31.1kDa	251					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				CCTCATCTTTCTGGGCTCAGA	0.567000													16	66					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809720	18809720	+	Missense_Mutation	SNP	G	G	A	rs141213766		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:18809720G>A	ENST00000400664.1	+	1	2297	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	749						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCCCAAGGAGCTGCGGAG	0.642000													43	146					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499972	62499972	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr17:62499972G>A	ENST00000225792.5	-	5	857	c.456C>T	c.(454-456)gcC>gcT	p.A152A	DDX5_ENST00000578804.1_Silent_p.A152A|DDX5_ENST00000450599.2_Intron	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	152	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TGTGGACAATGGCAGGAAGCA	0.328000			T	ETV4	prostate								13	74					0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728371	20728371	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:20728371G>A	ENST00000427401.4	-	4	732	c.638C>T	c.(637-639)tCc>tTc	p.S213F		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	213					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAGGTGTGAGGACCAGTTGAA	0.408000													6	46					0	0	1	0	0
NOSIP	51070	broad.mit.edu	37	19	50060183	50060183	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:50060183G>A	ENST00000391853.3	-	7	637	c.486C>T	c.(484-486)ttC>ttT	p.F162F	NOSIP_ENST00000596358.1_Silent_p.F162F|NOSIP_ENST00000339093.3_Silent_p.F165F	NM_015953.3	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	162					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ACGGGATCCAGAAGCTGGGCA	0.657000													6	35					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102537	22102537	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:22102537C>T	ENST00000542433.1	-	1	559	c.462G>A	c.(460-462)tgG>tgA	p.W154*		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCCGGCGACCCAAGCTCCAG	0.562000													15	70					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152883856	152883856	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:152883856G>A	ENST00000368764.3	+	2	1647	c.1583G>A	c.(1582-1584)gGg>gAg	p.G528E	IVL_ENST00000392667.2_Missense_Mutation_p.G382E			P07476	INVO_HUMAN	involucrin	528	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			cagcaggaggggcagctgaag	0.597000													8	48					0	0	1	0	0
CROT	54677	broad.mit.edu	37	7	87004963	87004963	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:87004963C>T	ENST00000331536.3	+	8	857	c.672C>T	c.(670-672)atC>atT	p.I224I	CROT_ENST00000419147.2_Silent_p.I252I|CROT_ENST00000442291.1_Silent_p.I224I	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	224					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TGACATATATCCACAAGAAGT	0.383000													18	83					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70525032	70525032	+	Missense_Mutation	SNP	T	T	G			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:70525032T>G	ENST00000538820.1	+	10	1320	c.980T>G	c.(979-981)aTg>aGg	p.M327R	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.M345R			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	345	Asp/Glu-rich (acidic).				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GAGGAAGCAATGGGGGAATAG	0.468000													11	14					0	0	1	0	0
SGCZ	137868	broad.mit.edu	37	8	13948096	13948096	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:13948096G>A	ENST00000382080.1	-	8	1510	c.795C>T	c.(793-795)tcC>tcT	p.S265S	SGCZ_ENST00000421524.2_Silent_p.S218S	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	252					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		AAGATGAGAAGGAGCCAGTTG	0.408000													27	81					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs140467724	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147																											CCCATCTGGTTTTTGAGTTTG	0.547000													5	296					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89042904	89042904	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:89042904C>T	ENST00000237612.3	-	6	1117	c.572G>A	c.(571-573)aGa>aAa	p.R191K	ABCG2_ENST00000515655.1_Missense_Mutation_p.R191K	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	191	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGTCCTTTTTCTTTCTCCTCC	0.398000													20	77					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119625959	119625959	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:119625959G>A	ENST00000313400.4	-	11	2043	c.1943C>T	c.(1942-1944)tCc>tTc	p.S648F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S597F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S644F			O75129	ASTN2_HUMAN	astrotactin 2	648						integral to membrane		p.S597C(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TGGCCCGAAGGAAGACAGCAG	0.522000													28	34					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21242975	21242975	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:21242975G>A	ENST00000540229.1	+	16	2247	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D667N|LST3_ENST00000381541.3_Missense_Mutation_p.D667N|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.D620N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D728N																							ACAAGTAATGGATGAAGCAAA	0.299000													11	26					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424129	56424129	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:56424129C>T	ENST00000588751.1	-	5	1078	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	NLRP13_ENST00000342929.3_Missense_Mutation_p.E352K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	352	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAACCAATTCTTTCTTCAAC	0.468000													29	112					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82389969	82389969	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:82389969C>T	ENST00000333891.8	-	24	15611	c.15274G>A	c.(15274-15276)Gga>Aga	p.G5092R		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	5015					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAGAATGTCCTGCAGGACTT	0.318000													38	60					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109181953	109181953	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:109181953G>A	ENST00000326495.5	-	15	3054	c.2961C>T	c.(2959-2961)ttC>ttT	p.F987F	SSH1_ENST00000360239.3_Silent_p.F675F	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	987	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCCGTTGAGAAGGTGAGAC	0.602000													79	277					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74750531	74750531	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:74750531G>A	ENST00000404568.3	-	5	1169	c.950C>T	c.(949-951)gCc>gTc	p.A317V	DQX1_ENST00000393951.2_Missense_Mutation_p.A317V|DQX1_ENST00000495597.1_5'UTR	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	317	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						AACCTTTCGGGCATCCATGTC	0.562000													5	338					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789960	140789960	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:140789960C>T	ENST00000520790.1	+	1	2191	c.2191C>T	c.(2191-2193)Ctc>Ttc	p.L731F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCCTGGTCTCTGTGTCAA	0.517000													40	116					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47458802	47458802	+	Missense_Mutation	SNP	G	G	A	rs148460850		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:47458802G>A	ENST00000265565.5	-	17	3374	c.2962C>T	c.(2962-2964)Cgg>Tgg	p.R988W	SCAP_ENST00000441517.2_Missense_Mutation_p.R732W|SCAP_ENST00000545718.1_Missense_Mutation_p.R595W	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	988	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		ACCTCCAGCCGGCCGCTGCTC	0.687000													3	29					0	0	1	0	0
SMPD3	55512	broad.mit.edu	37	16	68406009	68406009	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:68406009G>A	ENST00000219334.5	-	3	679	c.76C>T	c.(76-78)Cca>Tca	p.P26S	SMPD3_ENST00000568373.1_Missense_Mutation_p.P26S|SMPD3_ENST00000563226.1_Missense_Mutation_p.P26S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	26					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CAGTAGCATGGAAAGATAAGG	0.632000													7	16					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431819	140431819	+	Missense_Mutation	SNP	G	G	A	rs36037012		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:140431819G>A	ENST00000306549.3	+	1	841	c.764G>A	c.(763-765)aGc>aAc	p.S255N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGAGAACAGCCCCAATGGC	0.542000													15	40					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356124	42356124	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:42356124G>A	ENST00000554171.1	+	5	2728	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	LRFN5_ENST00000298119.4_Missense_Mutation_p.R99Q|LRFN5_ENST00000554120.1_Missense_Mutation_p.R99Q			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	99						integral to membrane		p.R99L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCTGACCTACGAAATTTGAGG	0.358000										HNSCC(30;0.082)			19	58					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8319907	8319907	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:8319907C>T	ENST00000381196.4	-	42	6137	c.5594G>A	c.(5593-5595)aGa>aAa	p.R1865K	PTPRD_ENST00000355233.5_Missense_Mutation_p.R1459K|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1458K|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1455K|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1458K|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1865K|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1852K|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1455K|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1843K|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1458K|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1865K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1865	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCCTTCATATCTCATTCTTTC	0.423000										TSP Lung(15;0.13)			64	52					0	0	1	0	0
IZUMO1	284359	broad.mit.edu	37	19	49248931	49248931	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:49248931C>T	ENST00000332955.2	-	2	733	c.186G>A	c.(184-186)aaG>aaA	p.K62K		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	62					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCTGGAAATCCTTCACGGCAT	0.562000													37	133					0	0	1	0	0
ADCK2	90956	broad.mit.edu	37	7	140378994	140378994	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:140378994C>T	ENST00000072869.4	+	3	1298	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	ADCK2_ENST00000476491.1_Nonsense_Mutation_p.Q374*	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	374	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AGAACACTTCCAGGTCAACTT	0.498000													34	125					0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109459772	109459772	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chrX:109459772C>T	ENST00000262844.5	-	3	840	c.673G>A	c.(673-675)Gat>Aat	p.D225N	AMMECR1_ENST00000372059.2_Missense_Mutation_p.D188N|AMMECR1_ENST00000372057.1_Missense_Mutation_p.D102N	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	225	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						TCACAGACATCTTCAAAGTTA	0.388000													40	132					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152286997	152286997	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:152286997C>T	ENST00000368799.1	-	3	400	c.365G>A	c.(364-366)aGa>aAa	p.R122K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	122					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGTCTTTTTCTGTTTTCTTT	0.383000									Ichthyosis				86	134					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952719	119952719	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:119952719C>T	ENST00000307142.4	+	4	2985	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S930L|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S930L	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	930						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTATCCACTCGCCGTCTTAC	0.542000													22	71					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048777	238048777	+	Silent	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:238048777G>A	ENST00000366570.4	-	8	1232	c.1074C>T	c.(1072-1074)ccC>ccT	p.P358P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	358	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GCCCCAGGTAGGGGTCTGTTC	0.537000													24	96					0	0	1	0	0
GNL3	26354	broad.mit.edu	37	3	52722193	52722193	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:52722193C>T	ENST00000394799.2	+	5	567	c.357C>T	c.(355-357)tgC>tgT	p.C119C	GNL3_ENST00000460073.1_3'UTR|GNL3_ENST00000418458.1_Silent_p.C131C	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	131					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGCTGTACTGCCAAGAACTTA	0.368000													30	82					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029368	219029368	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:219029368C>T	ENST00000295683.2	-	2	687	c.567G>A	c.(565-567)gaG>gaA	p.E189E		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	189					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TTCCCAGGACCTCATAGCAAA	0.512000													14	56					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38968473	38968473	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:38968473G>A	ENST00000355481.4	+	30	4548	c.4417G>A	c.(4417-4419)Gtg>Atg	p.V1473M	RYR1_ENST00000360985.3_Missense_Mutation_p.V1473M|RYR1_ENST00000359596.3_Missense_Mutation_p.V1473M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1473	6 X approximate repeats.|B30.2/SPRY 3.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTCGTGACGGTGACCATGGG	0.667000													15	56					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155575605	155575605	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:155575605G>A	ENST00000461783.3	+	28	5639	c.4366G>A	c.(4366-4368)Gag>Aag	p.E1456K	TIAM2_ENST00000456877.2_Missense_Mutation_p.E768K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E792K|TIAM2_ENST00000367174.2_Missense_Mutation_p.E832K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E1485K|RP11-477D19.2_ENST00000435295.1_RNA|TIAM2_ENST00000360366.4_Missense_Mutation_p.E1480K|TIAM2_ENST00000275246.7_Missense_Mutation_p.E381K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E1485K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E1456K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1456	PH 2.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TATTCTGAGGGAGAACTTCAG	0.463000													23	67					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290773	58290773	+	Missense_Mutation	SNP	G	G	C			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:58290773G>C	ENST00000391702.3	+	4	1056	c.689G>C	c.(688-690)cGa>cCa	p.R230P	ZNF586_ENST00000396154.2_Missense_Mutation_p.R273P|ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_3'UTR	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	273					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCATTTCGCCGAAGCTCTTCA	0.428000													16	76					0	0	1	0	0
SYS1	90196	broad.mit.edu	37	20	43995746	43995746	+	Silent	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:43995746C>T	ENST00000243918.5	+	4	753	c.462C>T	c.(460-462)tcC>tcT	p.S154S	SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000414310.1_Silent_p.S133S|SYS1_ENST00000372727.1_Silent_p.S154S|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000479779.1_3'UTR	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)	154					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CCCCTAAATCCAATGTCTAGA	0.562000													29	87					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171252314	171252314	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:171252314G>A	ENST00000354841.4	+	7	1346	c.1215G>A	c.(1213-1215)atG>atA	p.M405I	FMO1_ENST00000402921.2_Missense_Mutation_p.M342I|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.M405I			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	405					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGTGTCATGATAGAGGAAA	0.313000													37	156					0	0	1	0	0
PPP1R42	286187	broad.mit.edu	37	8	67929931	67929931	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:67929931G>A	ENST00000522909.1	-	2	236	c.52C>T	c.(52-54)Cga>Tga	p.R18*	PPP1R42_ENST00000517834.1_5'UTR|PPP1R42_ENST00000324682.5_Nonsense_Mutation_p.R18*			Q7Z4L9	LRC67_HUMAN	protein phosphatase 1, regulatory subunit 42	18																	TCTTCTTTTCGGGGTTTAAGA	0.323000													11	53					0	0	1	0	0
AADAC	13	broad.mit.edu	37	3	151535329	151535329	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:151535329G>A	ENST00000232892.6	+	2	440	c.314G>A	c.(313-315)aGg>aAg	p.R105K	RP11-454C18.2_ENST00000483843.2_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.R105K|RP11-454C18.2_ENST00000475855.1_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	105					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GCACTAAGAAGGGGGTTGTTT	0.438000													30	91					0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128477201	128477201	+	Missense_Mutation	SNP	C	C	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:128477201C>T	ENST00000322313.4	-	16	2556	c.2398G>A	c.(2398-2400)Ggg>Agg	p.G800R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	800					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATAATCATCCCTTGGGGAGCA	0.597000													12	67					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31123807	31123807	+	Missense_Mutation	SNP	G	G	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:31123807G>A	ENST00000597505.1	-	13	1899	c.1900C>T	c.(1900-1902)Cca>Tca	p.P634S	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AAATTAATTGGAAATCCCTCA	0.308000													4	9					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16960418	16960418	+	RNA	DEL	A	A	-	rs59476808		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:16960418delA	ENST00000412962.1	-	0	16																											tcagattgggaaaaaaaaaaa	0.453													3	4	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121122246	121122247	+	RNA	INS	-	-	A	rs144131281	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:121122246_121122247insA	ENST00000437515.1	-	0	329																											cttatggccatatagctGATTT	0.386													2	4	---	---	---	---					
RP11-417J8.1	0	broad.mit.edu	37	1	142556066	142556067	+	RNA	INS	-	-	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:142556066_142556067insT	ENST00000445662.1	+	0	204																											Tttttcttttctttttttcttt	0.351													4	8	---	---	---	---					
RP11-417J8.2	0	broad.mit.edu	37	1	142583243	142583243	+	RNA	DEL	C	C	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:142583243delC	ENST00000415979.2	-	0	167																											aaatctaaaacaagagagcaa	0.294													4	6	---	---	---	---					
RP11-417J8.2	0	broad.mit.edu	37	1	142584689	142584690	+	RNA	DEL	AA	AA	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:142584689_142584690delAA	ENST00000415979.2	-	0	167																											TCATCCTCAGAAAAAAAAAAAG	0.317													4	2	---	---	---	---					
LOC101927209	101927209	broad.mit.edu	37	1	142663276	142663277	+	RNA	DEL	AA	AA	-	rs61807144		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:142663276_142663277delAA	ENST00000369381.2	-	0	2507				RP11-417J8.3_ENST00000426408.1_lincRNA																							CATTTTTAGCAAAGTTGTTGCA	0.540													2	4	---	---	---	---					
RP1-15D23.2	0	broad.mit.edu	37	1	172965574	172965574	+	RNA	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:172965574delG	ENST00000432694.1	+	0	223																											ttgaacttgagggagctgact	0.428													2	4	---	---	---	---					
LINC01036	104169671	broad.mit.edu	37	1	187168565	187168566	+	RNA	INS	-	-	T	rs142284799	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr1:187168565_187168566insT	ENST00000458683.1	+	0	105																											ttttaacaatattgttactttc	0.322													4	3	---	---	---	---					
LOC730100	730100	broad.mit.edu	37	2	51958520	51958521	+	RNA	INS	-	-	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:51958520_51958521insT	ENST00000440698.1	+	0	753																											TATTTCTTACAttttttttttt	0.446													3	3	---	---	---	---					
ANKRD36BP2	645784	broad.mit.edu	37	2	89104503	89104504	+	RNA	INS	-	-	C	rs149625899	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:89104503_89104504insC	ENST00000393525.3	+	0	4868																											gtagatttttttcagattttgg	0.307													3	5	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91894572	91894572	+	RNA	DEL	T	T	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:91894572delT	ENST00000436174.1	-	0	168																											CACAAATCTATCACTATTTTA	0.294													2	4	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152495820	152495820	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:152495820delT	ENST00000397345.3	-	63	9170	c.8968delA	c.(8968-8970)gafs	p.R2990fs	NEB_ENST00000409198.1_Intron|NEB_ENST00000172853.10_Intron|NEB_ENST00000603639.1_Frame_Shift_Del_p.R2990fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.R2990fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.R2990fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	2990					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGTTCATTCTTGCCAACATA	0.378													2	4	---	---	---	---					
GPR155	151556	broad.mit.edu	37	2	175326143	175326144	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr2:175326143_175326144insA	ENST00000392552.2	-	9	1784_1785	c.1546_1547insT	c.(1546-1548)tggfs	p.W516fs	GPR155_ENST00000295500.4_Frame_Shift_Ins_p.W516fs|GPR155_ENST00000392551.2_Frame_Shift_Ins_p.W516fs	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	516					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TTCTTTTCCATAAAAGAAGGCT	0.376													39	135	---	---	---	---					
LINC00620	285375	broad.mit.edu	37	3	13752003	13752003	+	RNA	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:13752003delG	ENST00000419618.1	+	0	217				LINC00620_ENST00000438915.1_RNA	NR_027103.1																						CTTGTGAGGTGGCTGGTCTAC	0.537													2	4	---	---	---	---					
ALG1L2	644974	broad.mit.edu	37	3	129814807	129814807	+	RNA	DEL	G	G	-	rs71158106		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:129814807delG	ENST00000507643.1	+	0	456							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CACTCCCCTCGGGGGGTGTTG	0.607													4	6	---	---	---	---					
RP11-23D24.2	0	broad.mit.edu	37	3	153471703	153471703	+	RNA	DEL	T	T	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr3:153471703delT	ENST00000493214.2	-	0	24				RP11-23D24.2_ENST00000488210.1_RNA																							aatcccagcattttgggaggc	0.463													2	4	---	---	---	---					
RP11-1299A16.3	0	broad.mit.edu	37	4	99582903	99582904	+	RNA	DEL	TT	TT	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:99582903_99582904delTT	ENST00000569927.1	+	0	2849_2850																											tgtgagctgatttctcttattc	0.465													2	4	---	---	---	---					
AF146191.4	0	broad.mit.edu	37	4	190804733	190804734	+	RNA	INS	-	-	T			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr4:190804733_190804734insT	ENST00000511785.1	-	0	231				RP11-463J17.1_ENST00000503609.1_lincRNA																							CCTTAGACTGATTTTTTCTTAC	0.416													2	4	---	---	---	---					
RP11-1252I4.2	0	broad.mit.edu	37	5	177407453	177407453	+	RNA	DEL	T	T	-	rs145581409	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr5:177407453delT	ENST00000511650.1	+	0	145																											tgtgtgtgtgtgtgacacaga	0.552													2	4	---	---	---	---					
LY86-AS1	285780	broad.mit.edu	37	6	6545206	6545206	+	RNA	DEL	A	A	-	rs80052931		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:6545206delA	ENST00000435641.1	-	0	482				LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA																							agactgtctcaaaaaaaaaaa	0.443													2	4	---	---	---	---					
LOC101928516	101928516	broad.mit.edu	37	6	75127882	75127882	+	RNA	DEL	A	A	-	rs75599362		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr6:75127882delA	ENST00000435946.1	+	0	193																											ATAAAATTGCAAAAAAAAAAA	0.279													4	2	---	---	---	---					
CDK13	8621	broad.mit.edu	37	7	39990634	39990634	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:39990634delG	ENST00000181839.4	+	1	999	c.394delG	c.(394-396)gcfs	p.G133fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.G133fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	133					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GGACGGCGGTGGCGGTGCTAG	0.751													2	4	---	---	---	---					
ZNF767	79970	broad.mit.edu	37	7	149308433	149308433	+	RNA	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr7:149308433delG	ENST00000463567.1	-	0	600					NR_027788.1				zinc finger family member 767											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			ctactcgggaggctgaggcag	0.547													2	4	---	---	---	---					
RP11-566H8.3	0	broad.mit.edu	37	8	31142832	31142832	+	RNA	DEL	C	C	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:31142832delC	ENST00000524022.1	+	0	213																											CTGATACTCTCCCCTTTCCTC	0.418													2	4	---	---	---	---					
RP11-586K2.1	0	broad.mit.edu	37	8	89510914	89510915	+	RNA	INS	-	-	TT	rs72026316	by1000genomes	TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr8:89510914_89510915insTT	ENST00000521433.1	+	0	179				RP11-586K2.1_ENST00000523254.1_RNA																							TACATTACttctttttttttta	0.317													2	4	---	---	---	---					
LINC01410	103352539	broad.mit.edu	37	9	66465026	66465027	+	RNA	INS	-	-	G	rs145447612		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:66465026_66465027insG	ENST00000424345.1	+	0	224																											CAGCAGGCTGAGGGATCCAAGG	0.426													4	3	---	---	---	---					
LOC440896	440896	broad.mit.edu	37	9	70940393	70940394	+	RNA	DEL	GA	GA	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr9:70940393_70940394delGA	ENST00000429953.2	+	0	1559																											tgatgataaggagagagtctgc	0.411													2	4	---	---	---	---					
PTEN	5728	broad.mit.edu	37	10	89720672	89720673	+	In_Frame_Ins	INS	-	-	TAA			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:89720672_89720673insTAA	ENST00000371953.3	+	8	2180_2181	c.823_824insTAA	c.(823-825)aaa>TAAaaa	p.274_275ins*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	274	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.V275fs*1(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.W274_F341del(1)|p.V275L(1)|p.V275A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCACTTTTGGGTAAATACATTC	0.272		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			7	34	---	---	---	---					
RP11-432J24.5	0	broad.mit.edu	37	10	134328284	134328285	+	RNA	DEL	TG	TG	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr10:134328284_134328285delTG	ENST00000455414.1	-	0	98																											gtgtgtgtgctgtgtgtgtgtg	0.475													2	4	---	---	---	---					
TSGA10IP	254187	broad.mit.edu	37	11	65726237	65726237	+	RNA	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:65726237delG	ENST00000532620.1	+	0	1553							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						aaatagctttgtaaaGGTGAG	0.463													8	4	---	---	---	---					
ADRBK1	156	broad.mit.edu	37	11	67047303	67047310	+	Splice_Site	DEL	CCCTTAGC	CCCTTAGC	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr11:67047303_67047310delCCCTTAGC	ENST00000308595.5	+	6	731_732	c.441_splice	c.e6-1	p.H147_splice	ADRBK1_ENST00000526285.1_Splice_Site_p.H147_splice	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	147	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCAGCTTCCTCCCTTAGCCATACATCGA	0.582													13	103	---	---	---	---					
SETD1B	23067	broad.mit.edu	37	12	122255538	122255540	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr12:122255538_122255540delGGA	ENST00000267197.5	+	9	3168_3170	c.3162_3164delGGA	c.(3160-3165)gcg>gc	p.AE1054del	SETD1B_ENST00000604567.1_In_Frame_Del_p.AE1080del|SETD1B_ENST00000542440.1_In_Frame_Del_p.AE1054del	NM_015048.1	NP_055863.1	Q9UPS6	SET1B_HUMAN	SET domain containing 1B	1054	Glu-rich.|Pro-rich.				histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(6)|kidney(2)|prostate(2)	11						aagaggaggcggaggaggaggag	0.631													2	4	---	---	---	---					
LOC100129345	100129345	broad.mit.edu	37	14	98106141	98106141	+	RNA	DEL	T	T	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr14:98106141delT	ENST00000355909.3	-	0	625					NR_033943.1																						TGACCCATCCTTCACATTGTG	0.577													2	4	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33075650	33075652	+	RNA	DEL	TGG	TGG	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:33075650_33075652delTGG	ENST00000561541.1	-	0	291																											gatgaaatgatgggatgaaatga	0.271													3	6	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226560	88226560	+	RNA	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr16:88226560delG	ENST00000568587.1	-	0	91																											tgatgatgatgaggatgatgg	0.517													2	4	---	---	---	---					
LOC284395	284395	broad.mit.edu	37	19	29917564	29917566	+	RNA	DEL	TGC	TGC	-	rs72174447		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr19:29917564_29917566delTGC	ENST00000582581.1	-	0	409					NR_040029.1																						ACAttgctgttgctgctgctgct	0.453													2	4	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)ccfs	p.P411fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													7	145	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11031726	11031726	+	RNA	DEL	A	A	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:11031726delA	ENST00000470054.1	-	0	1476									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aacctgctacaagagtctact	0.453													5	8	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11048067	11048070	+	RNA	DEL	CTCT	CTCT	-	rs140519785		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:11048067_11048070delCTCT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		tagactaaagctctctgagtttca	0.333													3	4	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11063160	11063161	+	RNA	INS	-	-	A	rs147852817		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:11063160_11063161insA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		aaacgctatccaaaaaatgcag	0.282													3	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11066655	11066655	+	RNA	DEL	A	A	-	rs143777144		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:11066655delA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catttctaccaaaaaaaatac	0.517													3	5	---	---	---	---					
AP003900.6	0	broad.mit.edu	37	21	11170954	11170955	+	RNA	DEL	TT	TT	-	rs56148437		TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:11170954_11170955delTT	ENST00000603265.1	+	0	54																											tagtcccatatttttttttttt	0.322													3	5	---	---	---	---					
LOC101927973	101927973	broad.mit.edu	37	21	29541074	29541074	+	RNA	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:29541074delG	ENST00000453420.1	-	0	589																											CATTGATAAAGGTCATTAACT	0.328													2	4	---	---	---	---					
ITSN1	6453	broad.mit.edu	37	21	35254658	35254658	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GN-A4U5-01A-11D-A32N-08	TCGA-GN-A4U5-10B-01D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	679a9e7c-08ae-4435-9ee7-1678cad4f6cf	f57b70a1-d0f0-487c-9989-5a48ccaf050d	g.chr21:35254658delG	ENST00000381318.3	+	35	4741	c.4453delG	c.(4453-4455)acfs	p.D1485fs	ITSN1_ENST00000381285.4_Frame_Shift_Del_p.D1485fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.D1480fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.D1424fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1485	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.D1485N(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CCTTTTCAACGACTTCCTCCT	0.483													24	64	---	---	---	---