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
NUMB	8650	broad.mit.edu	37	14	73750946	73750946	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr14:73750946C>T	uc001xny.1	-	9	1112	c.792G>A	c.(790-792)cgG>cgA	p.R264R	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Intron|NUMB_uc010arr.1_Intron|NUMB_uc001xoa.1_Silent_p.R264R|NUMB_uc001xnz.1_Silent_p.R253R|NUMB_uc001xob.1_Silent_p.R253R|NUMB_uc001xod.1_Silent_p.R264R|NUMB_uc001xoc.1_Silent_p.R264R|NUMB_uc010ars.1_Silent_p.R253R|NUMB_uc001xof.1_Silent_p.R228R|NUMB_uc010ttz.1_Silent_p.R10R	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	264					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TTGGAGCATGCCGGCGTGGGA	0.552000													4	167					0	0	1	0	0
CHAMP1	283489	broad.mit.edu	37	13	115090966	115090966	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:115090966T>C	uc001vuv.3	+	2	1981	c.1649T>C	c.(1648-1650)cTt>cCt	p.L550P	CHAMP1_uc010tko.2_Missense_Mutation_p.L550P|CHAMP1_uc010ahb.3_Missense_Mutation_p.L550P|CHAMP1_uc021rmx.1_Missense_Mutation_p.L550P	NM_032436	NP_115812	Q96JM3	ZN828_HUMAN	Homo sapiens chromosome alignment maintaining phosphoprotein 1 (CHAMP1), transcript variant 1, mRNA.	550	Mediates localization to the spindle and the kinetochore and is required for the attachment of spindle microtubules to the kinetochore.|Pro-rich.				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation	condensed chromosome kinetochore|cytoplasm|nucleus|spindle	nucleic acid binding|protein binding|zinc ion binding										AAACGTGCCCTTTTTCCAGAG	0.517000													5	485					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80847559	80847559	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:80847559A>G	uc002kfy.1	+	15	1679	c.1549A>G	c.(1549-1551)Aat>Gat	p.N517D	TBCD_uc002kfx.1_Missense_Mutation_p.N500D|TBCD_uc002kfz.3_Missense_Mutation_p.N517D	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	517					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTTCCAGGAGAATGTGGGGAG	0.502000													6	34					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26294373	26294373	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:26294373G>A	uc003abz.1	+	28	5018	c.4768G>A	c.(4768-4770)Gtc>Atc	p.V1590I	MYO18B_uc003aca.1_Missense_Mutation_p.V1471I|MYO18B_uc010guy.1_Missense_Mutation_p.V1472I|MYO18B_uc010guz.1_Missense_Mutation_p.V1470I|MYO18B_uc011aka.1_Missense_Mutation_p.V744I|MYO18B_uc011akb.1_Missense_Mutation_p.V1103I	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1590	Tail.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.T1589N(1)		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						GGATACCTGCGTCCTGCTAGA	0.527000													53	99					0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56419681	56419681	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:56419681C>T	uc002rzn.3	+	1	848	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGATGATGACCGGCAGAAAGG	0.527000													28	56					0	0	1	0	0
GCNT2	2651	broad.mit.edu	37	6	10529594	10529594	+	Silent	SNP	T	T	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:10529594T>A	uc010joo.3	+	2	1001	c.450T>A	c.(448-450)gcT>gcA	p.A150A	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Silent_p.A149A	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	150						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCCCAAATGCTTTTCTGGCTT	0.512000													39	56					0	0	1	0	0
C2orf51	200523	broad.mit.edu	37	2	88826009	88826009	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:88826009G>A	uc002stb.2	+	2	256	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	38						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						GGGTCACGCCGCAAGAGGTAG	0.478000													5	35					0	0	1	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861298	34861298	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:34861298G>A	uc021wim.1	-	0	403	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	DNAJC28_uc002yrv.3_Missense_Mutation_p.H135Y|DNAJC28_uc002yrw.3_Missense_Mutation_p.H135Y	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	135							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTAAATAATGTCGGTGTTGG	0.403000													16	48					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158260938	158260938	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:158260938G>A	uc001fru.3	+	1	368	c.76G>A	c.(76-78)Gtc>Atc	p.V26I	CD1C_uc021pbl.1_5'Flank	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	26					T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CCAGGAACACGTCTCCTTCCA	0.483000													18	44					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169586560	169586560	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:169586560G>A	uc001ggi.4	-	2	252	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.R63C	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	63	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.R63C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTGTGTAGCGATTCTGGCAG	0.403000													66	130					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19403307	19403307	+	Silent	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:19403307G>T	uc001bbi.3	-	104	15418	c.15414C>A	c.(15412-15414)gcC>gcA	p.A5138A	UBR4_uc001bbe.1_5'Flank|UBR4_uc001bbf.3_Silent_p.A33A|UBR4_uc010ocv.2_Silent_p.A661A|UBR4_uc009vph.3_Silent_p.A793A|UBR4_uc010ocw.2_Silent_p.A802A|UBR4_uc001bbg.3_Silent_p.A849A|UBR4_uc001bbh.3_Silent_p.A847A	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	5138					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GGGCTTTGTCGGCAGCTTCGT	0.522000													73	167					0	0	1	0	0
IL17A	3605	broad.mit.edu	37	6	52053926	52053926	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr6:52053926G>A	uc003pak.1	+	2	349	c.304G>A	c.(304-306)Gct>Act	p.A102T		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	102					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CTGCATCAACGCTGATGGGAA	0.582000													25	28					0	0	1	0	0
DDX4	54514	broad.mit.edu	37	5	55094308	55094308	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:55094308G>A	uc003jqg.4	+	17	1623	c.1524G>A	c.(1522-1524)gtG>gtA	p.V508V	DDX4_uc010ivz.3_Silent_p.V488V|DDX4_uc003jqh.4_Silent_p.V474V|DDX4_uc003jqj.3_Silent_p.V359V	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	508					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)				TTGGACAAGTGGGTGGAGCAT	0.393000													27	101					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226555255	226555255	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:226555255G>A	uc001hqd.4	-	16	2503	c.2332C>T	c.(2332-2334)Ctc>Ttc	p.L778F		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	778	PARP alpha-helical.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CCTCCCCTGAGCAGACTGTAG	0.512000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					38	71					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146824152	146824152	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:146824152C>A	uc003ikn.3	-	1	307	c.259G>T	c.(259-261)Gac>Tac	p.D87Y	ZNF827_uc003ikm.3_Missense_Mutation_p.D87Y|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ACCTCACTGTCCAGTGCCACC	0.602000													27	40					0	0	1	0	0
UBAP2	55833	broad.mit.edu	37	9	33923825	33923825	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr9:33923825G>A	uc003ztq.1	-	23	2877	c.2764C>T	c.(2764-2766)Ccc>Tcc	p.P922S	UBAP2_uc011loc.1_Missense_Mutation_p.P831S|UBAP2_uc011lod.1_Missense_Mutation_p.P655S|UBAP2_uc011loe.1_Missense_Mutation_p.P677S|UBAP2_uc011lof.1_Missense_Mutation_p.P847S|UBAP2_uc003ztn.1_Missense_Mutation_p.P161S|UBAP2_uc003zto.1_Missense_Mutation_p.P161S|UBAP2_uc003ztp.2_Missense_Mutation_p.P161S	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	922										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		AAGGCACTGGGCATGCCTGTG	0.572000													34	70					0	0	1	0	0
XG	7499	broad.mit.edu	37	X	2726251	2726251	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:2726251C>T	uc004cqp.3	+	8	667	c.444C>T	c.(442-444)ggC>ggT	p.G148G	XG_uc011mhg.2_Silent_p.G133G	NM_001141919	NP_001135391	P55808	XG_HUMAN	Homo sapiens Xg blood group (XG), transcript variant 2, mRNA.	133						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAACGTATGGCAATCCAGAAG	0.493000													3	22					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:55038183C>G	uc002iuu.3	-	0	229	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697000													7	10					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667000													4	86					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459144	148459144	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:148459144G>A	uc003ewg.3	+	3	768	c.322G>A	c.(322-324)Gtc>Atc	p.V108I	AGTR1_uc003ewh.3_Missense_Mutation_p.V108I|AGTR1_uc003ewi.3_Missense_Mutation_p.V108I|AGTR1_uc003ewj.3_Missense_Mutation_p.V108I|AGTR1_uc003ewk.3_Missense_Mutation_p.V108I|AGTR1_uc021xfj.1_Missense_Mutation_p.V108I	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	108					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	TTCAGCCAGCGTCAGTTTCAA	0.478000													50	80					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47753887	47753887	+	Missense_Mutation	SNP	C	C	T	rs147186159	by1000genomes	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr18:47753887C>T	uc002lee.2	-	7	1500	c.1409G>A	c.(1408-1410)cGc>cAc	p.R470H		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	470										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAACTCTCGGCGTTTCTCTTC	0.502000													28	157					0	0	1	0	0
LTBR	4055	broad.mit.edu	37	12	6494476	6494476	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:6494476T>G	uc001qny.1	+	3	571	c.403T>G	c.(403-405)Tgg>Ggg	p.W135G	LTBR_uc010sfc.1_Missense_Mutation_p.W116G|LTBR_uc001qnz.1_Missense_Mutation_p.W130G	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	135					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CTGTGCTGCCTGGGCCCTCGA	0.622000													29	65					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113795319	113795319	+	Missense_Mutation	SNP	C	C	T	rs138587138		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr13:113795319C>T	uc001vsx.3	+	4	514	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Missense_Mutation_p.R153C	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	153	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|extracellular region	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCTGCGCCCGCGGGTACAC	0.657000													31	66					0	0	1	0	0
GGA1	26088	broad.mit.edu	37	22	38028487	38028487	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr22:38028487A>G	uc003atc.3	+	15	2161	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	GGA1_uc003ate.3_Missense_Mutation_p.I588V|GGA1_uc003atd.3_Missense_Mutation_p.I505V|GGA1_uc003atf.3_Missense_Mutation_p.I519V|SH3BP1_uc003atg.1_5'Flank	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	592	GAE.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CCCCTCAGCAATCACCCAGGT	0.637000													16	162					0	0	1	0	0
SIPA1	6494	broad.mit.edu	37	11	65414869	65414869	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:65414869C>T	uc001ofb.2	+	8	2213	c.2046C>T	c.(2044-2046)ggC>ggT	p.G682G	SIPA1_uc010rom.1_Silent_p.G580G|SIPA1_uc001ofd.2_Silent_p.G682G|MIR4489_uc021qlo.1_5'Flank	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	682					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						TGAGCCGTGGCTGCGAGACCC	0.756000													3	0					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr21:14414855A>G	uc002yiy.3	+	1		c.292A>G			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		GCCAATGGCCATGCAGAAGTA	0.448000													5	35					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36803	36803	+	RNA	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrGL000241.1:36803G>T	uc011mgv.2	-	0		c.73C>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CTTCTGCGCGGAGAGGCTGAA	0.592000													4	30					0	0	1	0	0
C2orf54	79919	broad.mit.edu	37	2	241827877	241827877	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:241827877G>A	uc002wae.4	-	3	1242	c.1083C>T	c.(1081-1083)cgC>cgT	p.R361R	C2orf54_uc002wac.3_Silent_p.R193R|C2orf54_uc002wad.3_Silent_p.R212R	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	361										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		AGCCCTCCACGCGCTGGTAGA	0.736000													7	26					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155198914	155198914	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr3:155198914G>A	uc021xge.1	-	22	5202	c.4925C>T	c.(4924-4926)aCg>aTg	p.T1642M	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.T1604M	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1642					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACCCCCTTTCGTGTTCTTCAG	0.557000													12	89					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777656	62777656	+	Silent	SNP	A	A	G			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:62777656A>G	uc001src.2	+	9	1200	c.1125A>G	c.(1123-1125)ggA>ggG	p.G375G	USP15_uc001srb.2_Silent_p.G346G	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	375					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGTTCTCTGGATATCAGCAGC	0.348000													24	42					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109801499	109801499	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:109801499C>T	uc001dxa.4	+	1	3817	c.3756C>T	c.(3754-3756)tcC>tcT	p.S1252S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1252	EGF-like 1; calcium-binding.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCGACTCCTCCGCGCCCTTCA	0.692000													7	29					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71640889	71640889	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:71640889G>T	uc003hfr.3	+	6	1358	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RUFY3_uc003hfp.4_Missense_Mutation_p.G315C|RUFY3_uc003hfq.3_Missense_Mutation_p.G255C|RUFY3_uc011cax.2_Missense_Mutation_p.G273C|RUFY3_uc011cay.2_Missense_Mutation_p.G191C	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	255					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCCCAGAGACGGTCAGATTAC	0.358000													15	68					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196658725	196658725	+	Silent	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:196658725G>A	uc001gtj.4	+	7	1380	c.1140G>A	c.(1138-1140)tcG>tcA	p.S380S	CFH_uc021pgt.1_5'Flank|CFH_uc001gti.4_Silent_p.S380S|CFH_uc009wyw.3_Silent_p.S355S|CFH_uc009wyx.3_Silent_p.S316S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	380	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATGGATGGTCGCCAGCAGTAC	0.393000													43	68					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553173	140553173	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:140553173G>T	uc003lit.3	+	0	931	c.757G>T	c.(757-759)Gaa>Taa	p.E253*		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	253	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E253K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGGTGCCCGAAAATAGCCC	0.517000													47	70					0	0	1	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072721	96072721	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:96072721G>A	uc002sur.3	+	2	457	c.278G>A	c.(277-279)cGg>cAg	p.R93Q		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	93							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GTCCTACCACGGTCGGAGGTA	0.597000													16	36					0	0	1	0	0
FAM45A	404636	broad.mit.edu	37	10	120883051	120883051	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:120883051G>A	uc001ldw.3	+	5	708	c.664G>A	c.(664-666)Gat>Aat	p.D222N	FAM45A_uc010qsv.2_Missense_Mutation_p.D214N|FAM45A_uc010qsw.2_Missense_Mutation_p.D71N|FAM45A_uc010qsx.2_Non-coding_Transcript|FAM45A_uc010qsy.2_Missense_Mutation_p.D149N	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	222										breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		CCTCAACGCCGATGAGCTGGA	0.507000													4	19					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140393995	140393995	+	Silent	SNP	T	T	C			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr4:140393995T>C	uc003ihv.3	+	1	794	c.405T>C	c.(403-405)caT>caC	p.H135H		NM_031296	NP_112586	Q9H082	RB33B_HUMAN	Homo sapiens RAB33B, member RAS oncogene family (RAB33B), mRNA.	135					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					GCAAACAACATTTGCTAGCCA	0.393000													53	75					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	140990833	140990833	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:140990833G>T	uc002tvj.1	-	90	14694	c.13722C>A	c.(13720-13722)aaC>aaA	p.N4574K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4574					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R4573*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCTAAGGAGTTTCGACAGT	0.323000										TSP Lung(27;0.18)			9	14					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112179432	112179432	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:112179432G>A	uc003kpz.4	+	16	8334	c.8141G>A	c.(8140-8142)cGt>cAt	p.R2714H	APC_uc011cvt.2_Missense_Mutation_p.R2696H|APC_uc003kpy.4_Missense_Mutation_p.R2714H|APC_uc010jbz.3_Missense_Mutation_p.R2431H|APC_uc010jca.3_Missense_Mutation_p.R2014H	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2714	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.R2714H(2)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTTCCCATGCGTACCGTGGGT	0.423000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			33	96					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253732	134253732	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:134253732G>A	uc001qhq.3	-	3	724	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	B3GAT1_uc001qhr.3_Missense_Mutation_p.R155C|B3GAT1_uc010scv.1_Missense_Mutation_p.R168C	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	155					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GCGTCTCCGCGCAGCTTGTAG	0.736000													4	17					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and 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.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			27	32					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79742556	79742556	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr10:79742556C>T	uc001jzn.3	-	26	3582	c.3449G>A	c.(3448-3450)aGa>aAa	p.R1150K		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507000													5	58					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111605	55111605	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:55111605G>A	uc010rie.2	+	0	929	c.929G>A	c.(928-930)aGa>aAa	p.R310K		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348000													7	36					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155931554	155931554	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:155931554G>A	uc001fmu.2	-	14	1753	c.1498C>T	c.(1498-1500)Cca>Tca	p.P500S	ARHGEF2_uc001fmr.2_Missense_Mutation_p.P428S|ARHGEF2_uc001fms.2_Missense_Mutation_p.P455S|ARHGEF2_uc001fmt.2_Missense_Mutation_p.P456S|ARHGEF2_uc010pgt.1_Missense_Mutation_p.P429S|ARHGEF2_uc010pgu.1_Missense_Mutation_p.P501S	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	456	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGCACTGGGGTTTGGGCC	0.602000													22	82					0	0	1	0	0
OPRL1	4987	broad.mit.edu	37	20	62730104	62730104	+	Silent	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr20:62730104C>T	uc002yic.3	+	4	1484	c.1065C>T	c.(1063-1065)gaC>gaT	p.D355D	OPRL1_uc002yid.3_Silent_p.D355D|OPRL1_uc021wgs.1_Silent_p.D355D|OPRL1_uc002yif.4_Silent_p.D350D	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	355					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding	p.K354N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TTGCCAAGGACGTGGCCCTGG	0.647000													27	52					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144995284	144995284	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr8:144995284C>T	uc003zaf.1	-	31	9286	c.9116G>A	c.(9115-9117)cGg>cAg	p.R3039Q	PLEC_uc003zab.1_Missense_Mutation_p.R2902Q|PLEC_uc003zac.1_Missense_Mutation_p.R2906Q|PLEC_uc003zad.2_Missense_Mutation_p.R2902Q|PLEC_uc003zae.1_Missense_Mutation_p.R2870Q|PLEC_uc003zag.1_Missense_Mutation_p.R2880Q|PLEC_uc003zah.2_Missense_Mutation_p.R2888Q|PLEC_uc003zaj.2_Missense_Mutation_p.R2929Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3039	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAAGACGTCCCGGGCCTCGGA	0.622000													79	52					0	0	1	0	0
NR2E3	10002	broad.mit.edu	37	15	72105883	72105883	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr15:72105883G>T	uc002ati.3	+	5	1092	c.902G>T	c.(901-903)cGt>cTt	p.R301L	NR2E3_uc002ath.1_Missense_Mutation_p.R301L	NM_014249	NP_055064	Q9Y5X4	NR2E3_HUMAN	Homo sapiens nuclear receptor subfamily 2, group E, member 3 (NR2E3), transcript variant 2, mRNA.	301					phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						ATGGAGACGCGTGTCCTGCAG	0.647000													3	37					0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163869	32163869	+	RNA	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr16:32163869C>T	uc002ecx.3	-	0		c.6G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		GGGAGTGCAGCGTGCACAGCA	0.617000													19	50					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085457	17085457	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:17085457C>T	uc010ock.2	-	9	1234	c.1234G>A	c.(1234-1236)Gat>Aat	p.D412N	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GGAGCAAAATCGTGGCAGGGT	0.617000													7	167					0	0	1	0	0
CHI3L2	1117	broad.mit.edu	37	1	111783985	111783985	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr1:111783985C>T	uc001eam.3	+	8	1026	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	CHI3L2_uc001ean.3_Missense_Mutation_p.L309F|CHI3L2_uc001eao.3_Missense_Mutation_p.L240F	NM_004000	NP_001020370	Q15782	CH3L2_HUMAN	Homo sapiens chitinase 3-like 2 (CHI3L2), transcript variant 1, mRNA.	319					chitin catabolic process	extracellular space	cation binding|chitinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(1)	19		all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141)		GATCACGCGGCTCCAGGATCA	0.537000													34	69					0	0	1	0	0
MRPL23	6150	broad.mit.edu	37	11	1972238	1972238	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr11:1972238C>T	uc001lux.3	+	1	218	c.127C>T	c.(127-129)Cgg>Tgg	p.R43W		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	43					translation	mitochondrial large ribosomal subunit	RNA binding|nucleotide binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		CGTGCAGTTCCGGATCCCCAT	0.657000													6	11					0	0	1	0	0
TNS1	7145	broad.mit.edu	37	2	218683397	218683397	+	Missense_Mutation	SNP	G	G	A	rs151035362	byFrequency	TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr2:218683397G>A	uc002vgt.2	-	23	3744	c.3346C>T	c.(3346-3348)Cgc>Tgc	p.R1116C	TNS1_uc002vgr.2_Missense_Mutation_p.R1103C|TNS1_uc002vgs.2_Missense_Mutation_p.R1095C|TNS1_uc010zjv.1_Missense_Mutation_p.R1095C	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	1116	Ser-rich.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CTGCCTGAGCGGAAGCCAGAC	0.637000													42	58					0	0	1	0	0
NKD2	85409	broad.mit.edu	37	5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-	rs3840989		TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr5:1038447_1038449delCAC	uc003jbt.1	+	9	1320_1322	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	447	His-rich.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.690													2	4	---	---	---	---					
CCDC64	92558	broad.mit.edu	37	12	120427782	120427784	+	In_Frame_Del	DEL	CCG	CCG	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr12:120427782_120427784delCCG	uc001txl.1	+	0	135_137	c.110_112delCCG	c.(109-114)cccgcc>ccc	p.A42del	CCDC64_uc001txk.2_In_Frame_Del_p.A42del|CCDC64_uc009zwv.1_Non-coding_Transcript	NM_207311	NP_997194	Q6ZP65	BICR1_HUMAN	Homo sapiens coiled-coil domain containing 64 (CCDC64), mRNA.	42					Golgi to secretory granule transport|neuron projection development	centrosome	Rab GTPase binding|dynactin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTCCGGAGTCCCGCCGCCGCCGC	0.759													3	4	---	---	---	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													7	142	---	---	---	---					
YIPF6	286451	broad.mit.edu	37	X	67718941	67718941	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-A632-01A-11D-A29Q-08	TCGA-HC-A632-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62488eee-4473-454e-89d3-7102d7c34977	c00991ab-7597-4eaf-9574-ef30295beeb9	g.chrX:67718941delG	uc004dwz.3	+	0	318	c.33delG	c.(31-33)ccgfs	p.P11fs	YIPF6_uc011mph.2_Frame_Shift_Del_p.P11fs	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	11						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CAGGAGACCCGGGGACAGCAT	0.667													2	4	---	---	---	---					
