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
EIF3D	8664	broad.mit.edu	37	22	36919950	36919950	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:36919950C>T	uc003apr.3	-	4	549	c.384G>A	c.(382-384)caG>caA	p.Q128Q	EIF3D_uc011amt.2_Silent_p.Q79Q|EIF3D_uc011ams.2_Silent_p.Q31Q	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	128						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCTCTCTTTCTGTTTGGCAC	0.502000													35	28					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103453188	103453188	+	Splice_Site	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:103453188C>A	uc001dum.3	-	30	2856	c.2538_splice	c.e30+1	p.K846_splice	COL11A1_uc001duk.3_Splice_Site_p.R25_splice|COL11A1_uc001dul.3_Splice_Site_p.K834_splice|COL11A1_uc001dun.3_Splice_Site_p.K795_splice|COL11A1_uc009weh.3_Splice_Site_p.K718_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	834	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CATTTACCAACCTTTTCTCCT	0.438000													8	26					0	0	1	0	0
CEACAM21	90273	broad.mit.edu	37	19	42091840	42091840	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:42091840C>G	uc002ore.4	+	4	938	c.842C>G	c.(841-843)tCc>tGc	p.S281C	CEACAM21_uc002orc.1_Non-coding_Transcript|CEACAM21_uc002orf.2_Non-coding_Transcript|CEACAM21_uc002org.4_Missense_Mutation_p.S280C	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	281						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCCCCAGCCTCCACCCCCGGT	0.572000													31	43					0	0	1	0	0
CROCC	9696	broad.mit.edu	37	1	17270624	17270624	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:17270624A>G	uc001azt.2	+	13	1907	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R	CROCC_uc009voz.1_Missense_Mutation_p.Q376R|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	613					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CACAGCCTGCAGGTGGCCCAG	0.697000													3	13					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	128					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:153247289G>C	uc003ims.3	-	9	1675	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_uc011cii.2_Missense_Mutation_p.R505G|FBXW7_uc003imt.3_Missense_Mutation_p.R505G|FBXW7_uc011cih.2_Missense_Mutation_p.R329G|FBXW7_uc003imq.3_Missense_Mutation_p.R425G|FBXW7_uc003imr.3_Missense_Mutation_p.R387G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	505			R -> L (in an ovarian cancer cell line).		SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R505C(110)|p.R505G(27)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R505L(6)|p.R505S(5)|p.R505H(4)|p.R387C(3)|p.V504I(2)|p.R387S(1)|p.?(1)|p.R505P(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								36	44					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254021	39254021	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:39254021C>T	uc010wfo.2	-	0	355	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	106	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						cagctggacacacagcagctg	0.672000													4	67					0	0	1	0	0
C5orf46	389336	broad.mit.edu	37	5	147281275	147281275	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:147281275G>A	uc010jgp.3	-	1	169	c.132C>T	c.(130-132)gaC>gaT	p.D44D	C5orf46_uc003lou.3_Silent_p.D44D|C5orf46_uc003lov.4_Silent_p.D44D	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	44						extracellular region				NS(1)|lung(1)|prostate(1)	3						ATTTGGGGAAGTCTGGCTTTG	0.502000													11	21					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178557078	178557078	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:178557078C>A	uc003mjw.3	-	15	2414	c.2312G>T	c.(2311-2313)gGc>gTc	p.G771V		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	771	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GATGAACTTGCCTGTCTCCAG	0.572000													33	2					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169825035	169825035	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr4:169825035C>T	uc011cjx.2	+	14	2811	c.2600C>T	c.(2599-2601)aCa>aTa	p.T867I	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Missense_Mutation_p.T850I|PALLD_uc003irv.3_Missense_Mutation_p.T468I|PALLD_uc003irw.3_Missense_Mutation_p.T363I|PALLD_uc003irx.3_Missense_Mutation_p.T76I	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1074	Interaction with ACTN.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GGGAATTATACAATTATGGCT	0.443000									Pancreatic Cancer, Familial Clustering of				14	20					0	0	1	0	0
PEPD	5184	broad.mit.edu	37	19	34003603	34003603	+	Missense_Mutation	SNP	G	G	C	rs61734503		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:34003603G>C	uc002nur.4	-	1	230	c.97C>G	c.(97-99)Cgg>Ggg	p.R33G	PEPD_uc010xrs.2_Missense_Mutation_p.R33G|PEPD_uc010xrr.2_Missense_Mutation_p.R33G	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	33					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					TTCCGCAGCCGCTCACACAGG	0.647000													12	48					0	0	1	0	0
PPP1R18	170954	broad.mit.edu	37	6	30647013	30647013	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:30647013G>A	uc003nra.3	-	2	1996	c.1765C>T	c.(1765-1767)Ctg>Ttg	p.L589L	PPP1R18_uc003nrb.4_Silent_p.L589L	NM_001134870	NP_597728	Q6NYC8	PHTNS_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 18 (PPP1R18), transcript variant 2, mRNA.	589						cytoplasm|cytoskeleton	actin binding										AGCAGCAGCAGCTCTTCCTCA	0.692000													24	52					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110846	207110846	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:207110846G>A	uc001hez.3	-	3	823	c.639C>T	c.(637-639)agC>agT	p.S213S	PIGR_uc009xbz.3_Silent_p.S213S	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	213	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCCCAGCATCGCTGAGCCTGA	0.483000													23	68					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145293414	145293414	+	Silent	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:145293414A>G	uc021oul.1	+	0	44	c.9A>G	c.(7-9)gtA>gtG	p.V3V	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_Silent_p.V3V|NBPF10_uc001emq.1_Silent_p.V3V	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCATGGTGGTATCAGCCGGCC	0.493000													45	1301					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52723052	52723052	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:52723052G>A	uc002pyp.3	+	9	1532	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	PPP2R1A_uc010ydk.2_Missense_Mutation_p.E358K|PPP2R1A_uc002pyq.3_Missense_Mutation_p.E234K	NM_014225	NP_055040	P30153	2AAA_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, alpha (PPP2R1A), transcript variant 1, mRNA.	413	PP2A subunit C binding.				G2/M transition of mitotic cell cycle|RNA splicing|ceramide metabolic process|chromosome segregation|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of DNA replication|regulation of Wnt receptor signaling pathway|regulation of cell adhesion|regulation of cell differentiation|regulation of transcription, DNA-dependent|response to organic substance|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	p.A412D(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		GGAGCTGGCTGAGGACGCCAA	0.627000			Mis		clear cell ovarian carcinoma								20	33					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137917826	137917826	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:137917826G>A	uc002tva.1	+	4	1320	c.1320G>A	c.(1318-1320)ccG>ccA	p.P440P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.P330P	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCGCCCCGTTGCCCTCTC	0.512000													39	48					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	1					0	0	1	0	0
ZNF324	25799	broad.mit.edu	37	19	58982178	58982178	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:58982178A>G	uc002qsw.2	+	3	464	c.319A>G	c.(319-321)Act>Gct	p.T107A		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGGGATGACTACTAGCGTCTT	0.552000													5	122					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21757493	21757493	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:21757493A>G	uc003svc.3	+	43	7136	c.7105A>G	c.(7105-7107)Aga>Gga	p.R2369G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2369	AAA 2 (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						GGATAAACTGAGAACAAGCTT	0.423000									Kartagener syndrome				4	79					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70070975	70070975	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr6:70070975G>C	uc010kak.3	+	27	4086	c.3810G>C	c.(3808-3810)ttG>ttC	p.L1270F	BAI3_uc003pev.4_Missense_Mutation_p.L1270F|BAI3_uc011dxx.2_Missense_Mutation_p.L476F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1270					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ATCCATGTTTGAAAAAAGAAA	0.403000													11	17					0	0	1	0	0
NAA35	60560	broad.mit.edu	37	9	88593281	88593281	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:88593281G>A	uc004aoi.4	+	10	999	c.862G>A	c.(862-864)Gat>Aat	p.D288N	NAA35_uc004aoj.4_Missense_Mutation_p.D288N|NAA35_uc004aok.1_Missense_Mutation_p.D288N	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	288					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GGCCCAGAATGATACTACAAA	0.373000													15	22					0	0	1	0	0
PLAA	9373	broad.mit.edu	37	9	26919455	26919455	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:26919455C>T	uc003zqd.3	-	8	1695	c.1270G>A	c.(1270-1272)Gat>Aat	p.D424N	PLAA_uc003zqe.2_Missense_Mutation_p.D424N	NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	424	PFU.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		CAAGGGTCATCACTGGTATTA	0.313000													34	70					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472319	179472319	+	Missense_Mutation	SNP	C	C	T	rs72646808	by1000genomes	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:179472319C>T	uc021vsy.1	-	225	45617	c.45392G>A	c.(45391-45393)cGc>cAc	p.R15131H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R8826H|TTN_uc021vta.1_Missense_Mutation_p.R8759H|TTN_uc021vtb.1_Missense_Mutation_p.R8634H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16058	Fibronectin type-III 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R15131H(2)|p.R8826H(1)|p.R8759H(1)|p.R8634H(1)		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)			AGGTACAGGGCGACCAGTCAC	0.448000													201	206					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29754889	29754889	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:29754889C>T	uc003afj.3	-	4	538	c.351G>A	c.(349-351)aaG>aaA	p.K117K	AP1B1_uc003afl.3_Silent_p.K117K|AP1B1_uc003afi.3_Silent_p.K117K	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	117					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACTCTGTGATCTTGTCAACGC	0.627000													8	13					0	0	1	0	0
DHH	50846	broad.mit.edu	37	12	49488228	49488228	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr12:49488228C>T	uc001rtf.3	-	0	375	c.68G>A	c.(67-69)tGc>tAc	p.C23Y		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	23					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						gcccggcccgcAGCTCTGGGC	0.672000													10	11					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30924601	30924601	+	Missense_Mutation	SNP	G	G	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr8:30924601G>T	uc003xio.4	+	5	1345	c.557G>T	c.(556-558)gGt>gTt	p.G186V		NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	186	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CACCTCTTAGGTAAACAGCTC	0.418000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				24	0					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14090342	14090342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:14090342G>A	uc002mxv.3	-	6	1023	c.751C>T	c.(751-753)Cag>Tag	p.Q251*	RFX1_uc010dzi.2_Nonsense_Mutation_p.Q251*	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	251					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGAGTGGCCTGGACCACAGAT	0.622000													97	74					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:53856702G>A	uc010ydv.1	+	3	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_uc010ydw.1_Missense_Mutation_p.R925H	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	34					0	0	1	0	0
RNASE2	6036	broad.mit.edu	37	14	21423973	21423973	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr14:21423973C>T	uc021ros.1	+	0	43	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	RNASE2_uc010aif.2_Silent_p.L15L|RNASE2_uc001vyl.1_Silent_p.L15L	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	15					RNA catabolic process|chemotaxis	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		TCTGCTTCTTCTGTTGGGGCT	0.463000													31	111					0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4716886	4716886	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:4716886G>A	uc003bqc.3	+	21	3038	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	ITPR1_uc021wsi.1_Silent_p.A911A|ITPR1_uc021wsj.1_Silent_p.A896A|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	911					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GCAAGATGGCGAAAGGAGAAG	0.443000													25	38					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74329129	74329129	+	Missense_Mutation	SNP	G	G	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:74329129G>C	uc002skb.4	+	8	4809	c.4809G>C	c.(4807-4809)aaG>aaC	p.K1603N		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1603							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGGAGGCCAAGCTCTACGGGA	0.687000													16	23					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967462	4967462	+	Missense_Mutation	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr11:4967462G>A	uc010qys.2	-	0	869	c.869C>T	c.(868-870)cCa>cTa	p.P290L		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATAAACAATTGGGTTCGTCAG	0.423000													10	74					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291113	141291113	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chrX:141291113C>G	uc022cfj.1	-	0	661	c.661G>C	c.(661-663)Gat>Cat	p.D221H	MAGEC2_uc004fbu.2_Missense_Mutation_p.D221H	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	221	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATGCCCTCATCATCACTACCC	0.502000										HNSCC(46;0.14)			51	8					0	0	1	0	0
AK309255	0	broad.mit.edu	37	15	28878843	28878843	+	RNA	SNP	G	G	A	rs150129920	by1000genomes	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr15:28878843G>A	uc010aza.1	+	1		c.281G>A			AK309255_uc010azb.1_Non-coding_Transcript					Homo sapiens cDNA, FLJ97818.																		CTTCCTATTTGGCAATGAGCA	0.438000													4	57					0	0	1	0	0
DDX31	64794	broad.mit.edu	37	9	135487643	135487643	+	Splice_Site	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:135487643C>T	uc004cbq.1	-	19	2293	c.2141_splice	c.e19-1	p.A714_splice	DDX31_uc010mzu.1_Splice_Site_p.T641_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	714						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GACTGCAGAGCTGAAAGAAAA	0.562000													18	16					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41216006	41216006	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:41216006C>T	uc002oor.2	-	4	627	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ADCK4_uc002ooq.2_Missense_Mutation_p.E109K|ADCK4_uc002oos.2_Missense_Mutation_p.E109K	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	109						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			TTAGCCATCTCGGCCAGTACT	0.597000													40	44					0	0	1	0	0
UNQ2565	0	broad.mit.edu	37	22	24656885	24656885	+	RNA	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:24656885G>A	uc002zzs.4	+	4		c.2165G>A								Homo sapiens POM121 membrane glycoprotein-like 9, pseudogene (POM121L9P), non-coding RNA.																		GAGGACGGAAGCAGAGGGTGC	0.622000													9	19					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37230808	37230808	+	Missense_Mutation	SNP	T	T	C			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr2:37230808T>C	uc002rpp.1	-	30	5023	c.4927A>G	c.(4927-4929)Agt>Ggt	p.S1643G	HEATR5B_uc010ezy.1_Missense_Mutation_p.S227G	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1643							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				TGCAAAACACTCAGCAACTCA	0.343000													14	29					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138394427	138394427	+	Missense_Mutation	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:138394427C>G	uc003vuf.3	-	19	2609	c.2371G>C	c.(2371-2373)Gcc>Ccc	p.A791P	ATP6V0A4_uc003vug.3_Missense_Mutation_p.A791P|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.A791P	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	791					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGAAGGATGGCTACTGTCAGG	0.542000													97	115					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140532009	140532009	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:140532009C>T	uc003lir.3	+	0	2171	c.2171C>T	c.(2170-2172)tCg>tTg	p.S724L		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	724					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.S724L(2)|p.S724S(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTACTCGGTGCCCGAG	0.652000													12	157					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	49					0	0	1	0	0
OXTR	5021	broad.mit.edu	37	3	8809318	8809318	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr3:8809318C>T	uc003brc.3	-	2	1178	c.556G>A	c.(556-558)Gac>Aac	p.D186N		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	186					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	GCCCAGCAGTCGAAGACGCCG	0.662000													32	31					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47424519	47424519	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:47424519C>T	uc010ekv.3	+	0	2587	c.2587C>T	c.(2587-2589)Cgt>Tgt	p.R863C		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	863					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TTCAGCCAAACGTAAGGCCTC	0.438000													23	36					0	0	1	0	0
PTRF	284119	broad.mit.edu	37	17	40557062	40557062	+	Silent	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:40557062C>T	uc002hzo.3	-	1	1039	c.816G>A	c.(814-816)aaG>aaA	p.K272K	PTRF_uc010wgi.2_Silent_p.K254K	NM_012232	NP_036364	Q6NZI2	PTRF_HUMAN	Homo sapiens polymerase I and transcript release factor (PTRF), mRNA.	272					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TGTTCATGCGCTTCTCCAGGG	0.617000													27	31					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5436259	5436259	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:5436259C>T	uc001ihy.3	-	3	600	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	TUBAL3_uc001ihz.3_Missense_Mutation_p.V148M	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	188					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GGCTCTACCACAGCAGTGGAG	0.517000													51	33					0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7129436	7129436	+	Silent	SNP	C	C	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr17:7129436C>G	uc002gez.1	-	14	2241	c.1959G>C	c.(1957-1959)ggG>ggC	p.G653G	MIR324_uc002gey.2_5'Flank|DVL2_uc010vtr.1_Silent_p.G647G	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	653					canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TAGGGGCACCCCCAGTTGAGC	0.672000													38	5					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:53856730G>A	uc010ydv.1	+	3	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_uc010ydw.1_Silent_p.K934K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(6)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	24					0	0	1	0	0
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr10:126682516G>A	uc009yak.3	-	7	1106	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_uc009yal.3_Silent_p.G273G|CTBP2_uc001lif.4_Silent_p.G273G|CTBP2_uc001lih.4_Silent_p.G273G|CTBP2_uc001lid.4_Silent_p.G341G|CTBP2_uc001lie.4_Silent_p.G813G	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582000													4	221					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179301924	179301924	+	Missense_Mutation	SNP	C	C	T			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr5:179301924C>T	uc003mlh.3	-	11	2199	c.2164G>A	c.(2164-2166)Gag>Aag	p.E722K	TBC1D9B_uc003mli.3_Missense_Mutation_p.E722K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.E722K|TBC1D9B_uc011dgv.2_5'Flank	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	722						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATGGCCTCGCCCTCGTCG	0.647000													48	4					0	0	1	0	0
TOPORS	10210	broad.mit.edu	37	9	32550878	32550878	+	Missense_Mutation	SNP	C	C	A			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr9:32550878C>A	uc003zrb.3	-	1	284	c.92G>T	c.(91-93)aGt>aTt	p.S31I	TOPORS_uc003zrc.3_Intron|TOPORS-AS1_uc003zrd.3_5'Flank|TOPORS-AS1_uc022bff.1_5'Flank	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	31	E3 ubiquitin-protein ligase activity.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TACCCGGCGACTTCTCCGCCT	0.726000													9	13					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154315408	154315408	+	Missense_Mutation	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr1:154315408A>G	uc001fex.3	+	14	1523	c.1523A>G	c.(1522-1524)cAt>cGt	p.H508R		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	494					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCTGTGTCATACTGTCATG	0.572000													46	56					0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52864001	52864001	+	RNA	SNP	A	A	G			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr13:52864001A>G	uc001vgm.1	-	1		c.157T>C								Homo sapiens thrombospondin, type I, domain containing 1 pseudogene 1 (THSD1P1), non-coding RNA.																		GAAAAAATAAAGCAATAGCTA	0.313000													6	23					0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr7:131241030_131241035delGGCGAC	uc003vqw.4	-	0	342_347	c.84_89delGTCGCC	c.(82-90)ccgtcgccc>ccc	p.28_30PSP>P	PODXL_uc003vqx.4_In_Frame_Del_p.28_30PSP>P	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(4)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													3	5	---	---	---	---					
HCFC1R1	54985	broad.mit.edu	37	16	3073909	3073909	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr16:3073909delG	uc002csx.1	-	1	167	c.34delC	c.(34-36)cagfs	p.Q12fs	HCFC1R1_uc002csy.1_Frame_Shift_Del_p.Q12fs|HCFC1R1_uc002csz.1_Frame_Shift_Del_p.Q12fs|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002cta.2_5'Flank	NM_001002018	NP_060355	Q9NWW0	HPIP_HUMAN	Homo sapiens host cell factor C1 regulator 1 (XPO1 dependent) (HCFC1R1), transcript variant 3, mRNA.	12						cytoplasm|nucleus				breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3						GCCCCTCCCTGGGGGCCTCGC	0.711													2	4	---	---	---	---					
PALM	5064	broad.mit.edu	37	19	740396	740396	+	Frame_Shift_Del	DEL	G	G	-			TCGA-NG-A4VU-01A-11D-A28R-08	TCGA-NG-A4VU-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13a72df3-4f78-47e7-ba26-f59dd23f3e86	2551e882-f53e-42d6-84a3-ed52888aacea	g.chr19:740396delG	uc002lpm.1	+	7	741	c.547delG	c.(547-549)gggfs	p.G183fs	PALM_uc002lpn.1_Intron|PALM_uc010xfu.1_Frame_Shift_Del_p.G48fs	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	183					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		CAAGGTGACAGGGGAGACCAG	0.652													2	4	---	---	---	---					
