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
ARHGAP5	394	broad.mit.edu	37	14	32563530	32563530	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:32563530G>A	ENST00000345122.3	+	2	3970	c.3655G>A	c.(3655-3657)Gac>Aac	p.D1219N	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.D1219N|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1219					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATCACTTCTGACCAGGAGTT	0.353000													16	94					0	0	0.004007	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													4	35					0	0	0.000248	0	0
AC096579.13	0	broad.mit.edu	37	2	89156960	89156960	+	RNA	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:89156960C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							TTGTGTTTCTCGTAGTCTGCT	0.572000													9	63					0	0	0.004482	0	0
LRRC7	57554	broad.mit.edu	37	1	70502126	70502126	+	Splice_Site	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:70502126G>T	ENST00000310961.5	+	21	2426		c.e21-1		LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Splice_Site			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7							centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTAAATTTCAGAATCAACTGA	0.393000													13	30					0.000151284	0.000273215	0.001855	1	0
SHISA3	152573	broad.mit.edu	37	4	42403311	42403311	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:42403311G>T	ENST00000319234.4	+	2	778	c.560G>T	c.(559-561)tGc>tTc	p.C187F		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	187					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GAGCCGGGCTGCCTGGTGCCC	0.662000													9	30					3.86212e-05	7.08055e-05	0.008291	1	0
DDX60	55601	broad.mit.edu	37	4	169215016	169215016	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:169215016G>A	ENST00000393743.3	-	7	1095	c.804C>T	c.(802-804)tgC>tgT	p.C268C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	268							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AAGATAATGAGCATGAAGTAA	0.413000													14	78					0	0	0.003163	0	0
ZSCAN29	146050	broad.mit.edu	37	15	43658483	43658483	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:43658483G>T	ENST00000396976.2	-	3	1181	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q	ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.H348Q	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	349					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCAGGCCAGAGTGAGAGGCTG	0.597000													14	39					3.27435e-08	6.23932e-08	0.002450	1	0
ANTXR1	84168	broad.mit.edu	37	2	69302734	69302734	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:69302734C>T	ENST00000303714.4	+	7	827	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ANTXR1_ENST00000409829.3_Nonsense_Mutation_p.R169*|ANTXR1_ENST00000409349.3_Nonsense_Mutation_p.R169*	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	169	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TAATAGGTCTCGAGATCTTGG	0.418000									Familial Infantile Hemangioma				20	151					0	0	0.001523	0	0
SNRPD2	6633	broad.mit.edu	37	19	46190835	46190835	+	Silent	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:46190835C>G	ENST00000342669.3	-	3	777	c.333G>C	c.(331-333)cgG>cgC	p.R111R	SNRPD2_ENST00000391932.3_Silent_p.R101R|SNRPD2_ENST00000590212.1_3'UTR|SNRPD2_ENST00000588599.1_Silent_p.R101R|SNRPD2_ENST00000588301.1_Silent_p.R111R|SNRPD2_ENST00000587367.1_Silent_p.R101R|SNRPD2_ENST00000585392.1_Silent_p.R47R	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	111					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TGAGCGGGTTCCGCAGGACCA	0.547000													9	43					0	0	0.004482	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708004	29708004	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:29708004G>A	ENST00000471961.1	+	5	2611	c.1563G>A	c.(1561-1563)tgG>tgA	p.W521*	GAS2L1_ENST00000341313.6_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Nonsense_Mutation_p.W521*|GAS2L1_ENST00000407647.2_Nonsense_Mutation_p.W521*			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	0					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCGGCGCCTGGAAGAGGAGTT	0.692000													30	132					0	0	0.001786	0	0
PTGES3	10728	broad.mit.edu	37	12	57058264	57058264	+	Nonstop_Mutation	SNP	T	T	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:57058264T>G	ENST00000262033.6	-	8	782	c.482A>C	c.(481-483)tAa>tCa	p.*161S	PTGES3_ENST00000537473.1_5'UTR|PTGES3_ENST00000414274.3_Nonstop_Mutation_p.*131S|PTGES3_ENST00000456859.2_Nonstop_Mutation_p.*125S|PTGES3_ENST00000448157.2_Nonstop_Mutation_p.*140S|PTGES3_ENST00000436399.2_Nonstop_Mutation_p.*128S	NM_006601.5	NP_006592.3	Q15185	TEBP_HUMAN	prostaglandin E synthase 3 (cytosolic)	0					chaperone cofactor-dependent protein refolding|hormone biosynthetic process|prostaglandin biosynthetic process|signal transduction|telomere maintenance	cytosol|telomerase holoenzyme complex	prostaglandin-E synthase activity|telomerase activity|unfolded protein binding			large_intestine(1)|lung(1)	2						CAATATTCCTTACTCCAGATC	0.308000													15	57					0	0	0.004990	0	0
ZNF630	57232	broad.mit.edu	37	X	47919827	47919827	+	Splice_Site	SNP	A	A	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:47919827A>T	ENST00000276054.4	-	4	805		c.e4+1		ZNF630_ENST00000409324.3_Splice_Site|ZNF630_ENST00000442455.3_Splice_Site|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTCTCACTTACCTGGGTAGA	0.428000													10	81					0	0	0.000978	0	0
FCRL2	79368	broad.mit.edu	37	1	157737023	157737023	+	Nonsense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:157737023G>C	ENST00000361516.3	-	6	1208	c.1160C>G	c.(1159-1161)tCa>tGa	p.S387*	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Nonsense_Mutation_p.S134*|FCRL2_ENST00000392274.3_Nonsense_Mutation_p.S387*	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	387	Ig-like C2-type 4.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCACCCACCTGAGATGGAGAC	0.542000													13	71					0	0	0.001855	0	0
ABCA12	26154	broad.mit.edu	37	2	215914369	215914369	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:215914369A>G	ENST00000272895.7	-	6	893	c.674T>C	c.(673-675)cTa>cCa	p.L225P		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	225					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGTTTGTTTAGTTCTTGGAG	0.388000													7	36					0	0	0.003080	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	RNA	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													3	81					0	0	0.000248	0	0
KAT5	10524	broad.mit.edu	37	11	65481258	65481258	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:65481258G>A	ENST00000341318.4	+	6	863	c.629G>A	c.(628-630)cGt>cAt	p.R210H	KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Missense_Mutation_p.R158H|KAT5_ENST00000352980.4_Missense_Mutation_p.R125H|KAT5_ENST00000377046.3_Missense_Mutation_p.R177H	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	177					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GGAGCCGCCCGTAGGGCAGTG	0.532000													4	16					0	0	0.000248	0	0
ASAP1	50807	broad.mit.edu	37	8	131127878	131127878	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:131127878T>A	ENST00000357668.1	-	22	2195	c.2168A>T	c.(2167-2169)gAc>gTc	p.D723V	ASAP1_ENST00000518721.1_Missense_Mutation_p.D723V			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	723					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTCACTTTGTCATCCAGATC	0.413000													71	233					0	0	0.003610	0	0
BHLHE23	128408	broad.mit.edu	37	20	61637638	61637638	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:61637638G>A	ENST00000370346.2	-	1	749	c.441C>T	c.(439-441)gcC>gcT	p.A147A		NM_080606.3	NP_542173.1	Q8NDY6	BHE23_HUMAN	basic helix-loop-helix family, member e23	147	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus	DNA binding			NS(1)	1						TATAGTTCTTGGCGAGCAGCA	0.677000													6	28					0	0	0.001984	0	0
ART3	419	broad.mit.edu	37	4	77003501	77003501	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:77003501C>T	ENST00000355810.4	+	3	713	c.594C>T	c.(592-594)ctC>ctT	p.L198L	ART3_ENST00000349321.3_Silent_p.L198L|ART3_ENST00000341029.5_Silent_p.L198L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	198					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATGACCAGCTCACTGTGTTAT	0.408000													13	38					0	0	0.001368	0	0
MON1A	84315	broad.mit.edu	37	3	49947692	49947692	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:49947692G>A	ENST00000417270.1	-	5	1956	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Silent_p.F510F|MON1A_ENST00000455683.2_Silent_p.F348F			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	413							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCGCTCCTGGAAGCGGCGGC	0.627000													13	39					0	0	0.001368	0	0
TDRD1	56165	broad.mit.edu	37	10	115987042	115987042	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:115987042G>C	ENST00000251864.2	+	23	3540	c.3387G>C	c.(3385-3387)caG>caC	p.Q1129H	TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron|TDRD1_ENST00000369281.2_Missense_Mutation_p.Q1015H|TDRD1_ENST00000369282.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1129					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCAAAGGCAGAGTGCTTTAA	0.358000													10	42					0	0	0.001368	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140871168	140871168	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:140871168C>A	ENST00000252087.1	+	1	2361	c.2361C>A	c.(2359-2361)ttC>ttA	p.F787L	PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		787					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGTGACTTCACTTTTCTAA	0.632000													9	45					3.07112e-06	5.67336e-06	0.000978	1	0
FSTL5	56884	broad.mit.edu	37	4	162307346	162307346	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:162307346G>A	ENST00000306100.5	-	16	2533	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	FSTL5_ENST00000536695.1_Silent_p.V698V|FSTL5_ENST00000379164.4_Silent_p.V698V|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Silent_p.V689V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	699						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CATCTGGAGAGACATATGGAG	0.473000													13	66					0	0	0.001368	0	0
ZNF404	342908	broad.mit.edu	37	19	44376738	44376738	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:44376738C>G	ENST00000587539.1	-	3	1627	c.1628G>C	c.(1627-1629)aGa>aCa	p.R543T	ZNF404_ENST00000324394.6_Missense_Mutation_p.R541T	NM_001033719.2	NP_001028891.2	Q494X3	ZN404_HUMAN	zinc finger protein 404	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1)	17		Prostate(69;0.0352)				ATGGTGAAATCTTTGATGTTG	0.373000													5	16					0	0	0.000602	0	0
DCHS2	54798	broad.mit.edu	37	4	155157872	155157872	+	Silent	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:155157872T>A	ENST00000357232.3	-	25	6566	c.6567A>T	c.(6565-6567)ccA>ccT	p.P2189P		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2189	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGAACTCAATGGAGGGCAGC	0.468000													12	31					0	0	0.000978	0	0
GPX2	2877	broad.mit.edu	37	14	65406430	65406430	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:65406430C>T	ENST00000389614.5	-	2	435	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	117					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	TTCAGGTAGGCGAAGACAGGA	0.537000													14	56					0	0	0.003163	0	0
MAP3K6	9064	broad.mit.edu	37	1	27690468	27690468	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:27690468G>A	ENST00000374040.3	-	4	1040	c.780C>T	c.(778-780)agC>agT	p.S260S	MAP3K6_ENST00000357582.2_Silent_p.S268S|MAP3K6_ENST00000493901.1_Silent_p.S268S			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	268					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCAGCTCCACGCTGTCCAGTC	0.647000													7	17					0	0	0.001984	0	0
CCDC144A	9720	broad.mit.edu	37	17	16612763	16612763	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:16612763C>A	ENST00000443444.2	+	5	1532	c.1392C>A	c.(1390-1392)aaC>aaA	p.N464K	CCDC144A_ENST00000340621.5_Missense_Mutation_p.N463K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.N464K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.N464K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.N464K|CCDC144A_ENST00000456009.1_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	464																	GCAGTACAAACAACTATAAAA	0.348000													5	70					0.000157383	0.000282124	0.003080	1	0
FARP1	10160	broad.mit.edu	37	13	99087939	99087939	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:99087939C>A	ENST00000376586.2	+	19	2589	c.2253C>A	c.(2251-2253)gaC>gaA	p.D751E	FARP1-AS1_ENST00000432229.1_RNA|FARP1_ENST00000595437.1_Missense_Mutation_p.D751E|FARP1_ENST00000319562.6_Missense_Mutation_p.D751E			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	751					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTGGCATTGACAATCTTGTGG	0.507000													31	74					1.80694e-10	3.55512e-10	0.001786	1	0
FRG1BP	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	73					0	0	0.000248	0	0
HNF4G	3174	broad.mit.edu	37	8	76476246	76476246	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:76476246G>T	ENST00000396423.2	+	10	1377	c.1253G>T	c.(1252-1254)gGc>gTc	p.G418V	HNF4G_ENST00000354370.1_Missense_Mutation_p.G381V	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	381					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G381D(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			CCACCACAAGGCTCTGGGCAA	0.448000													21	138					1.96292e-10	3.83086e-10	0.001523	1	0
RNF6	6049	broad.mit.edu	37	13	26789040	26789040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:26789040G>A	ENST00000381588.4	-	5	1731	c.979C>T	c.(979-981)Caa>Taa	p.Q327*	RNF6_ENST00000346166.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000381570.3_Nonsense_Mutation_p.Q327*|RNF6_ENST00000399762.2_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	327	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTTTCCCTTTGGGAATTATGA	0.418000													19	68					0	0	0.001882	0	0
OR2T6	254879	broad.mit.edu	37	1	248551301	248551301	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:248551301G>A	ENST00000355728.2	+	1	392	c.392G>A	c.(391-393)cGc>cAc	p.R131H		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCCACTGCGCTATCCTGTC	0.567000													34	51					0	0	0.002836	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869426	22869426	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22869426C>G	ENST00000302097.3	-	2	781	c.529G>C	c.(529-531)Gat>Cat	p.D177H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CTTTTGGAATCTCTGCTGTTT	0.453000													14	88					0	0	0.001855	0	0
OR2T34	127068	broad.mit.edu	37	1	248738034	248738034	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:248738034G>C	ENST00000328782.2	-	1	46	c.25C>G	c.(25-27)Cag>Gag	p.Q9E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTTTGATTCTGAGAAGTCTGA	0.443000													3	60					0	0	0.001168	0	0
DNASE1L2	1775	broad.mit.edu	37	16	2287938	2287938	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2287938C>T	ENST00000564065.1	+	5	1763	c.762C>T	c.(760-762)ggC>ggT	p.G254G	DNASE1L2_ENST00000567494.1_Silent_p.G254G|DNASE1L2_ENST00000382437.4_Silent_p.G233G|DNASE1L2_ENST00000320700.5_Silent_p.G254G			Q92874	DNSL2_HUMAN	deoxyribonuclease I-like 2	254					DNA catabolic process	extracellular region	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding			endometrium(1)|prostate(1)|skin(2)	4						TGGCCTGTGGCGCCCGCCTGC	0.672000													4	13					0	0	0.000248	0	0
IFT140	9742	broad.mit.edu	37	16	1642226	1642226	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:1642226C>T	ENST00000426508.2	-	6	948	c.585G>A	c.(583-585)ctG>ctA	p.L195L	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	195										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCCCATCTTCAGCAAACTTC	0.507000													11	74					0	0	0.000978	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171531	207171531	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:207171531C>T	ENST00000374423.3	+	5	2665	c.2279C>T	c.(2278-2280)tCa>tTa	p.S760L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	760							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTCTTCTGTCAGTTACTGAG	0.408000													43	158					0	0	0.003214	0	0
OR1S2	219958	broad.mit.edu	37	11	57971290	57971290	+	Missense_Mutation	SNP	C	C	T	rs138124206		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:57971290C>T	ENST00000302592.6	-	1	363	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V122I(2)		endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGTCAGTGACGACAAACACA	0.473000													34	84					0	0	0.004289	0	0
FKBP9	11328	broad.mit.edu	37	7	33028259	33028259	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:33028259G>T	ENST00000242209.4	+	6	1203	c.1034G>T	c.(1033-1035)gGa>gTa	p.G345V	FKBP9_ENST00000489038.1_3'UTR|FKBP9_ENST00000538336.1_Missense_Mutation_p.G398V|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Missense_Mutation_p.G113V|FKBP9_ENST00000538443.1_Missense_Mutation_p.G207V	NM_007270.3	NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	345	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGAGAGGAAGGAAGAGGTGAG	0.488000													10	54					1.76689e-08	3.39356e-08	0.006214	1	0
TMEM35	59353	broad.mit.edu	37	X	100349902	100349902	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:100349902C>G	ENST00000372930.4	+	2	744	c.461C>G	c.(460-462)tCc>tGc	p.S154C	TMEM35_ENST00000478351.1_3'UTR	NM_021637.2	NP_067650.1	Q53FP2	TMM35_HUMAN	transmembrane protein 35	154						cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane				NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1)	7						GAGCAACCCTCCTTATATGAG	0.532000													11	71					0	0	0.000978	0	0
MROH7	374977	broad.mit.edu	37	1	55148401	55148401	+	Silent	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:55148401G>T	ENST00000414150.2	+	14	2732	c.2454G>T	c.(2452-2454)ctG>ctT	p.L818L	MROH7_ENST00000339553.5_Silent_p.L818L|MROH7_ENST00000545244.1_Silent_p.L386L|MROH7_ENST00000454855.2_Silent_p.L336L|MROH7_ENST00000421030.2_Silent_p.L818L|MROH7_ENST00000409996.1_Silent_p.L386L|MROH7_ENST00000395690.2_Silent_p.L818L					maestro heat-like repeat family member 7																		TCCTGGATCTGCTCCTGGGCA	0.612000													19	39					2.35188e-11	4.66521e-11	0.006122	1	0
C16orf59	80178	broad.mit.edu	37	16	2514586	2514586	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2514586G>C	ENST00000483320.1	+	9	1331	c.718G>C	c.(718-720)Gcc>Ccc	p.A240P	C16orf59_ENST00000361837.4_Missense_Mutation_p.A407P|C16orf59_ENST00000563531.1_3'UTR|C16orf59_ENST00000569496.1_3'UTR			Q7L2K0	CP059_HUMAN	chromosome 16 open reading frame 59	407										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				GCCCTGGCTGGCCCTGTGCCG	0.682000													5	24					0	0	0.001168	0	0
NDUFB1	4707	broad.mit.edu	37	14	92588014	92588014	+	Silent	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:92588014G>T	ENST00000329559.3	-	1	247	c.108C>A	c.(106-108)ctC>ctA	p.L36L	NDUFB1_ENST00000605997.1_5'UTR|NDUFB1_ENST00000556555.1_5'UTR|NDUFB1_ENST00000553514.1_5'UTR	NM_004545.3	NP_004536.2	O75438	NDUB1_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	CAGCGACCCCGAGACCAAGGG	0.711000													9	63					3.07112e-06	5.67336e-06	0.000978	1	0
THSD7A	221981	broad.mit.edu	37	7	11514030	11514030	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:11514030C>A	ENST00000423059.3	-	8	2434	c.2183G>T	c.(2182-2184)tGc>tTc	p.C728F	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	728	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCCGACAGAGCAGGAGGCCTC	0.507000										HNSCC(18;0.044)			16	67					0.000566183	0.000992872	0.004990	1	0
ABCC5	10057	broad.mit.edu	37	3	183695333	183695333	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:183695333T>C	ENST00000334444.6	-	10	1616	c.1376A>G	c.(1375-1377)gAa>gGa	p.E459G	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Missense_Mutation_p.E459G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	459	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CACTGAGGCTTCTGAGAGGGA	0.488000													13	27					0	0	0.001855	0	0
TMTC2	160335	broad.mit.edu	37	12	83289957	83289957	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:83289957G>C	ENST00000549919.1	+	4	2802	c.997G>C	c.(997-999)Ggg>Cgg	p.G333R	TMTC2_ENST00000548305.1_Missense_Mutation_p.G339R|TMTC2_ENST00000321196.3_Missense_Mutation_p.G339R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	339						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGAATGCAATGGGAAAACTGT	0.463000													10	73					0	0	0.006214	0	0
TAF6	6878	broad.mit.edu	37	7	99711874	99711874	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:99711874G>A	ENST00000472509.1	-	1	307	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	TAF6_ENST00000437822.2_Missense_Mutation_p.R24W|TAF6_ENST00000453269.2_5'UTR|TAF6_ENST00000497233.1_5'UTR|TAF6_ENST00000452041.1_5'UTR|TAF6_ENST00000418432.2_5'UTR|TAF6_ENST00000344095.4_5'UTR			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	0					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGAAGCCCCCGGTGGAGAGAC	0.572000													4	45					0	0	0.000248	0	0
DYRK4	8798	broad.mit.edu	37	12	4702231	4702231	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:4702231C>T	ENST00000540757.2	+	4	342	c.182C>T	c.(181-183)gCg>gTg	p.A61V	DYRK4_ENST00000010132.5_Missense_Mutation_p.A61V|DYRK4_ENST00000543431.1_Missense_Mutation_p.A61V	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	61			A -> T (in dbSNP:rs12306130).			Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CTGGGCTACGCGGAGCTGTGG	0.458000													15	59					0	0	0.004990	0	0
MAEL	84944	broad.mit.edu	37	1	166991064	166991064	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:166991064G>C	ENST00000367872.4	+	12	1521	c.1277G>C	c.(1276-1278)gGa>gCa	p.G426A	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.G395A	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	426					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CAAAAAGATGGATACAAATCT	0.368000													5	47					0	0	0.001168	0	0
KIAA1524	57650	broad.mit.edu	37	3	108271206	108271206	+	Missense_Mutation	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:108271206T>A	ENST00000295746.8	-	20	2498	c.2422A>T	c.(2422-2424)Aca>Tca	p.T808S	KIAA1524_ENST00000491772.1_Missense_Mutation_p.T649S	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	808						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACTTTTGTTTTTTGATGC	0.313000													4	13					0	0	0.000248	0	0
CRISP3	10321	broad.mit.edu	37	6	49703279	49703279	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:49703279T>C	ENST00000433368.2	-	4	353	c.284A>G	c.(283-285)aAt>aGt	p.N95S	CRISP3_ENST00000371159.4_Missense_Mutation_p.N103S|CRISP3_ENST00000263045.4_Missense_Mutation_p.N85S|CRISP3_ENST00000393666.1_Missense_Mutation_p.N72S|CRISP3_ENST00000423399.2_5'UTR	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	72					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CTTTTGGGCATTTGCTGCAGC	0.368000													21	97					0	0	0.001882	0	0
PRKAA1	5562	broad.mit.edu	37	5	40798208	40798208	+	Silent	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:40798208A>G	ENST00000397128.2	-	1	92	c.84T>C	c.(82-84)atT>atC	p.I28I	PRKAA1_ENST00000354209.3_Silent_p.I28I|PRKAA1_ENST00000296800.4_Silent_p.I19I	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	28	Protein kinase.				activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGTCACCCAGAATGTAGTGGC	0.642000													8	32					0	0	0.004482	0	0
FMR1NB	158521	broad.mit.edu	37	X	147106392	147106392	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:147106392G>A	ENST00000370467.3	+	5	714	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	214						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGAACCGGCCGATGATTT	0.378000													11	76					0	0	0.000978	0	0
TMEM74B	55321	broad.mit.edu	37	20	1161695	1161695	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr20:1161695G>A	ENST00000381894.3	-	2	1239	c.568C>T	c.(568-570)Ctc>Ttc	p.L190F		NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	190						integral to membrane	protein binding										ACCGACAAGAGCATGCCGCCC	0.652000													4	42					0	0	0.000248	0	0
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1																						GCTGCCACATAAGTTGTCCTT	0.303000													4	35					0	0	0.000248	0	0
RIC8B	55188	broad.mit.edu	37	12	107279729	107279729	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:107279729C>T	ENST00000392837.4	+	10	1770	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	RIC8B_ENST00000392839.2_Missense_Mutation_p.T500M|RIC8B_ENST00000355478.2_3'UTR|RIC8B_ENST00000549643.1_Missense_Mutation_p.T10M			Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	500					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						GGGACAATAACGCCTTTGGAG	0.413000													18	116					0	0	0.001882	0	0
PPP1R14D	54866	broad.mit.edu	37	15	41120651	41120651	+	Silent	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:41120651C>G	ENST00000299174.5	-	1	256	c.189G>C	c.(187-189)cgG>cgC	p.R63R	PPP1R14D_ENST00000427255.2_Silent_p.R63R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGAGCTGGCCCCGGTCATACT	0.597000													8	68					0	0	0.003080	0	0
ATP2A2	488	broad.mit.edu	37	12	110780124	110780124	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:110780124C>G	ENST00000395494.2	+	14	2671	c.2108C>G	c.(2107-2109)tCt>tGt	p.S703C	ATP2A2_ENST00000539276.2_Missense_Mutation_p.S730C|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S730C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	730					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AAAACCGCCTCTGAGATGGTC	0.557000													15	75					0	0	0.003163	0	0
MAGEA11	4110	broad.mit.edu	37	X	148794917	148794917	+	Splice_Site	SNP	T	T	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:148794917T>A	ENST00000355220.5	+	2	198		c.e2+2		MAGEA11_ENST00000333104.4_Intron	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11							cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGACTCCAGGTCAGTAGGGAC	0.592000													16	37					0	0	0.003163	0	0
ZNF827	152485	broad.mit.edu	37	4	146807275	146807275	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:146807275C>A	ENST00000508784.1	-	4	1529	c.1302G>T	c.(1300-1302)caG>caT	p.Q434H	ZNF827_ENST00000379448.4_Missense_Mutation_p.Q434H|ZNF827_ENST00000513320.1_Missense_Mutation_p.Q84H			Q17R98	ZN827_HUMAN	zinc finger protein 827	434					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)					ACAGCTGGCACTGAAAGGTCT	0.522000													7	16					8.12818e-05	0.000147896	0.001984	1	0
ALOX12B	242	broad.mit.edu	37	17	7983127	7983127	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7983127G>A	ENST00000319144.4	-	7	1147	c.887C>T	c.(886-888)cCg>cTg	p.P296L	AC129492.6_ENST00000399413.3_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	296	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GCCCAGGAACGGAGCCACCAT	0.687000										Multiple Myeloma(8;0.094)			4	17					0	0	0.000602	0	0
TSIX	9383	broad.mit.edu	37	X	73042820	73042820	+	RNA	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:73042820C>G	ENST00000604411.1	+	0	30781				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						TTACGTCTTTCAAGCACTTAA	0.303000													12	99					0	0	0.000978	0	0
GPR114	221188	broad.mit.edu	37	16	57608852	57608852	+	Missense_Mutation	SNP	C	C	T	rs149449822		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:57608852C>T	ENST00000340339.4	+	11	1857	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.A445V	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGGGAGCGGGCGGATGCACCA	0.652000													9	33					0	0	0.004482	0	0
DUSP18	150290	broad.mit.edu	37	22	31059928	31059928	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:31059928C>T	ENST00000403268.1	-	2	533	c.63G>A	c.(61-63)tcG>tcA	p.S21S	DUSP18_ENST00000334679.3_Silent_p.S21S|DUSP18_ENST00000461301.1_Intron|DUSP18_ENST00000407308.1_Silent_p.S21S|DUSP18_ENST00000404885.1_Silent_p.S21S			Q8NEJ0	DUS18_HUMAN	dual specificity phosphatase 18	21						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						TGGTTATCTGCGAGAGGCCGC	0.557000													5	63					0	0	0.000602	0	0
CPVL	54504	broad.mit.edu	37	7	29035453	29035453	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:29035453G>C	ENST00000409850.1	-	17	2012	c.1366C>G	c.(1366-1368)Ctg>Gtg	p.L456V	CPVL_ENST00000396276.3_Missense_Mutation_p.L456V|CPVL_ENST00000265394.5_Missense_Mutation_p.L456V			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	456					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAAGCTCTCAGAGGCTGGTCA	0.343000													4	35					0	0	0.000248	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809462	18809462	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:18809462G>A	ENST00000400664.1	+	1	2039	c.1987G>A	c.(1987-1989)Ggg>Agg	p.G663R		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	663						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCCCCACCGGGGGCAGCAA	0.677000													11	27					0	0	0.008291	0	0
RASA3	22821	broad.mit.edu	37	13	114817592	114817592	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:114817592C>T	ENST00000334062.7	-	3	333	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	RASA3_ENST00000542651.1_Missense_Mutation_p.R71Q|RASA3_ENST00000389544.4_Missense_Mutation_p.R39Q	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	71	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ACGAAAGCTCCGAGGAATTTC	0.488000													7	28					0	0	0.003080	0	0
DPYD	1806	broad.mit.edu	37	1	98039345	98039345	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:98039345G>A	ENST00000370192.3	-	11	1410	c.1310C>T	c.(1309-1311)gCc>gTc	p.A437V		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	437					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	p.A437V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TGAACCAAAGGCACTGATGAC	0.418000													18	109					0	0	0.007413	0	0
TM7SF2	7108	broad.mit.edu	37	11	64883409	64883409	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:64883409G>A	ENST00000279263.7	+	10	1303	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	TM7SF2_ENST00000345348.5_Missense_Mutation_p.A354T|TM7SF2_ENST00000540748.1_Missense_Mutation_p.A265T	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	381					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTACTTCACCGCGCTGCTGGT	0.647000													13	43					0	0	0.001855	0	0
LIX1L	128077	broad.mit.edu	37	1	145498680	145498680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:145498680C>T	ENST00000369308.3	+	6	990	c.916C>T	c.(916-918)Cga>Tga	p.R306*	RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000599626.1_RNA|RP11-315I20.1_ENST00000601726.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA|RP11-315I20.1_ENST00000421764.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599147.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000412239.1_RNA|RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000595494.1_RNA|RP11-315I20.1_ENST00000437797.1_RNA|RP11-315I20.1_ENST00000448561.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	306										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGATGAAGCCCGACTGGCAGG	0.587000													10	57					0	0	0.000978	0	0
DCHS2	54798	broad.mit.edu	37	4	155157874	155157874	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:155157874G>A	ENST00000357232.3	-	25	6564	c.6565C>T	c.(6565-6567)Cca>Tca	p.P2189S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2189	Cadherin 19.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAACTCAATGGAGGGCAGCCA	0.463000													13	29					0	0	0.001368	0	0
ABCB4	5244	broad.mit.edu	37	7	87035604	87035604	+	Splice_Site	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:87035604G>A	ENST00000265723.4	-	26	3618	c.3507_splice	c.e26+1	p.H1169_splice	ABCB4_ENST00000359206.3_Splice_Site_p.H1162_splice|ABCB4_ENST00000358400.3_Splice_Site_p.H1115_splice|ABCB4_ENST00000545634.1_Splice_Site_p.H1162_splice|ABCB4_ENST00000453593.1_Splice_Site_p.H1115_splice	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1169	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTTAACTTACGTGGGGTAACG	0.393000													19	175					0	0	0.008871	0	0
BTN1A1	696	broad.mit.edu	37	6	26509261	26509261	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:26509261G>C	ENST00000244513.6	+	7	1506	c.1440G>C	c.(1438-1440)gaG>gaC	p.E480D		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	480						extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ATGGGCCTGAGAGGGTCACAG	0.552000													14	54					0	0	0.001855	0	0
STK24	8428	broad.mit.edu	37	13	99171636	99171636	+	Missense_Mutation	SNP	C	C	T	rs147189846	by1000genomes	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr13:99171636C>T	ENST00000397517.2	-	2	210	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	STK24_ENST00000376547.3_Missense_Mutation_p.R57Q|STK24_ENST00000539966.1_Missense_Mutation_p.R45Q|STK24_ENST00000481288.1_5'UTR	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	57	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTCTGAGTCCGATTGTCAAT	0.428000													27	121					0	0	0.005443	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	RNA	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													3	82					0	0	0.000248	0	0
TRPV4	59341	broad.mit.edu	37	12	110238456	110238456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:110238456G>A	ENST00000418703.2	-	4	914	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000541794.1_Intron|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.Q240*|TRPV4_ENST00000537083.1_Nonsense_Mutation_p.Q274*|TRPV4_ENST00000392719.2_Intron|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.Q274*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	274					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TCCTTGGGCTGGAAGAAGCGC	0.607000													6	45					0	0	0.001168	0	0
TRIP13	9319	broad.mit.edu	37	5	908529	908529	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:908529C>T	ENST00000166345.3	+	9	1175	c.819C>T	c.(817-819)gcC>gcT	p.A273A		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	273					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CATCAGATGCCATCCGCGTGG	0.542000													13	73					0	0	0.001855	0	0
CMYA5	202333	broad.mit.edu	37	5	79028659	79028659	+	Silent	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:79028659T>C	ENST00000446378.2	+	2	4102	c.4071T>C	c.(4069-4071)tcT>tcC	p.S1357S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1357						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTACAGCATCTGTAACTAAGC	0.373000													9	33					0	0	0.000978	0	0
FAM135B	51059	broad.mit.edu	37	8	139165105	139165105	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:139165105C>T	ENST00000395297.1	-	13	1783	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	538										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGGACTCCTTCTAGAAGTATC	0.502000										HNSCC(54;0.14)			8	91					0	0	0.003080	0	0
MUC2	4583	broad.mit.edu	37	11	1078277	1078277	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:1078277C>G	ENST00000441003.2	+	5	591	c.564C>G	c.(562-564)ttC>ttG	p.F188L	MUC2_ENST00000359061.5_Missense_Mutation_p.F188L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	188	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCGTGCTCTTCAGTCCCCTGG	0.662000													10	53					0	0	0.000978	0	0
TBX18	9096	broad.mit.edu	37	6	85472362	85472362	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:85472362G>C	ENST00000369663.5	-	2	734	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	TBX18_ENST00000606784.1_5'UTR|TBX18_ENST00000606521.1_5'UTR	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	133					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGCGAGGGCAGAGGGGTCCCG	0.697000													10	57					0	0	0.008291	0	0
DSEL	92126	broad.mit.edu	37	18	65180897	65180897	+	Missense_Mutation	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr18:65180897C>A	ENST00000310045.7	-	2	2452	c.979G>T	c.(979-981)Gcc>Tcc	p.A327S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	317						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AAAAGGGTGGCATAATAGAAC	0.383000													15	73					0.000219431	0.000390459	0.002450	1	0
E4F1	1877	broad.mit.edu	37	16	2282237	2282237	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:2282237G>A	ENST00000301727.4	+	4	529	c.481G>A	c.(481-483)Gag>Aag	p.E161K	E4F1_ENST00000564139.1_Missense_Mutation_p.E161K|E4F1_ENST00000565090.1_Missense_Mutation_p.E161K	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	161					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TGAGATGGCCGAGGCCCCGGG	0.662000													11	75					0	0	0.001855	0	0
KIAA0368	23392	broad.mit.edu	37	9	114184479	114184479	+	Splice_Site	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr9:114184479G>A	ENST00000259335.4	-	15	1800	c.1799_splice	c.e15-1	p.R601_splice	KIAA0368_ENST00000338205.5_Splice_Site_p.R423_splice	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTGGCATCCGACTGCAAAAG	0.353000													14	56					0	0	0.002450	0	0
PARP1	142	broad.mit.edu	37	1	226564992	226564992	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:226564992G>C	ENST00000366794.5	-	13	1901	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	586					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|identical protein binding|NAD+ ADP-ribosyltransferase activity|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)		CCCAGGACCTGAATATCCAAT	0.507000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	199					0	0	0.004672	0	0
MS4A7	58475	broad.mit.edu	37	11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:60161321G>A	ENST00000358246.1	+	6	768	c.575G>A	c.(574-576)cGg>cAg	p.R192Q	MS4A7_ENST00000300184.3_Missense_Mutation_p.R237Q|MS4A7_ENST00000534016.1_Missense_Mutation_p.R192Q|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000530234.2_Intron	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	237						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373000													15	81					0	0	0.006122	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30791838	30791838	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:30791838C>T	ENST00000458257.1	+	1	86	c.72C>T	c.(70-72)taC>taT	p.Y24Y	INMT_ENST00000484180.1_Intron|INMT_ENST00000013222.5_Silent_p.Y24Y|INMT_ENST00000409539.1_Silent_p.Y24Y																							TGGCTACTTACTACAGCTTCG	0.577000													52	101					0	0	0.003610	0	0
FLG	2312	broad.mit.edu	37	1	152282437	152282437	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:152282437C>G	ENST00000368799.1	-	3	4960	c.4925G>C	c.(4924-4926)aGt>aCt	p.S1642T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1642	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCCCATGACTGGCTCTATC	0.557000									Ichthyosis				47	323					0	0	0.003610	0	0
DNAH2	146754	broad.mit.edu	37	17	7699949	7699949	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7699949C>G	ENST00000572933.1	+	50	9302	c.7842C>G	c.(7840-7842)ttC>ttG	p.F2614L	DNAH2_ENST00000389173.2_Missense_Mutation_p.F2614L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2614	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTACCTCTTCAACCTTCGAG	0.572000													14	42					0	0	0.003163	0	0
TP53	7157	broad.mit.edu	37	17	7578412	7578412	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:7578412A>C	ENST00000420246.2	-	5	650	c.518T>G	c.(517-519)gTg>gGg	p.V173G	TP53_ENST00000359597.4_Missense_Mutation_p.V173G|TP53_ENST00000445888.2_Missense_Mutation_p.V173G|TP53_ENST00000269305.4_Missense_Mutation_p.V173G|TP53_ENST00000455263.2_Missense_Mutation_p.V173G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.V173G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(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)		GCAGCGCCTCACAACCTCCGT	0.662000		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)			32	35					0	0	0.002836	0	0
OCEL1	79629	broad.mit.edu	37	19	17337542	17337542	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:17337542C>T	ENST00000215061.4	+	2	154	c.110C>T	c.(109-111)gCc>gTc	p.A37V	OCEL1_ENST00000597836.1_5'UTR|OCEL1_ENST00000601529.1_Missense_Mutation_p.A37V|OCEL1_ENST00000601576.1_3'UTR	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	37	Pro-rich.									central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						GGACACGACGCCCCCCGCAGG	0.756000													13	6					0	0	0.002450	0	0
BMS1	9790	broad.mit.edu	37	10	43318597	43318597	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:43318597A>G	ENST00000374518.4	+	20	3227	c.3164A>G	c.(3163-3165)aAa>aGa	p.K1055R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1055					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGTGGCCAAATTTGAAGGT	0.428000													4	91					0	0	0.000248	0	0
NEXN	91624	broad.mit.edu	37	1	78392542	78392542	+	Missense_Mutation	SNP	G	G	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:78392542G>C	ENST00000330010.8	+	7	934	c.637G>C	c.(637-639)Gag>Cag	p.E213Q	NEXN_ENST00000457030.1_Missense_Mutation_p.E263Q|NEXN_ENST00000334785.7_Missense_Mutation_p.E277Q	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	277	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		TTTAGAAGAAGAGAAGCGTGC	0.363000													13	67					0	0	0.001855	0	0
HAND1	9421	broad.mit.edu	37	5	153855399	153855399	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:153855399C>T	ENST00000231121.2	-	2	870	c.615G>A	c.(613-615)ccG>ccA	p.P205P		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	205					angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			AGACTTGCTGCGGCCAGCCGG	0.632000													8	31					0	0	0.004482	0	0
ZFX	7543	broad.mit.edu	37	X	24228854	24228854	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chrX:24228854G>A	ENST00000379177.1	+	11	2206	c.1779G>A	c.(1777-1779)acG>acA	p.T593T	ZFX_ENST00000540034.1_Silent_p.T632T|ZFX_ENST00000338565.3_Silent_p.T543T|ZFX_ENST00000379188.3_Silent_p.T593T|ZFX_ENST00000304543.5_Silent_p.T593T|ZFX_ENST00000539115.1_Silent_p.T364T	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ACTTGAAAACGCATGTCAAAA	0.438000													7	67					0	0	0.001984	0	0
HBB	3043	broad.mit.edu	37	11	5248168	5248168	+	Silent	SNP	G	G	A	rs67440443		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:5248168G>A	ENST00000335295.3	-	1	259	c.84C>T	c.(82-84)gcC>gcT	p.A28A		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	28			A -> D (in Volga/Drenthe; unstable).|A -> S (in Knossos).|A -> V (in Grange-blanche; O(2) affinity up).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	ACCTGCCCAGGGCCTCACCAC	0.512000									Sickle Cell Trait				11	36					0	0	0.008291	0	0
ABCA10	10349	broad.mit.edu	37	17	67178387	67178387	+	Silent	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr17:67178387A>G	ENST00000269081.4	-	23	3585	c.2676T>C	c.(2674-2676)tgT>tgC	p.C892C	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	892					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GAACAGGAAAACAATTCAATT	0.294000													4	21					0	0	0.000248	0	0
ZP3	7784	broad.mit.edu	37	7	76062842	76062842	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:76062842C>G	ENST00000416245.1	+	3	1156	c.63C>G	c.(61-63)caC>caG	p.H21Q	ZP3_ENST00000394857.3_Missense_Mutation_p.H197Q|ZP3_ENST00000336517.4_Missense_Mutation_p.H146Q			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	197					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						ATGCAGCCCACCTCCAGGCAG	0.587000													14	109					0	0	0.002450	0	0
PAM	5066	broad.mit.edu	37	5	102342680	102342680	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:102342680C>T	ENST00000438793.3	+	18	2449	c.1979C>T	c.(1978-1980)tCa>tTa	p.S660L	PAM_ENST00000304400.7_Missense_Mutation_p.S660L|PAM_ENST00000379787.4_Missense_Mutation_p.S40L|PAM_ENST00000274392.9_Missense_Mutation_p.S563L|PAM_ENST00000455264.2_Missense_Mutation_p.S660L|PAM_ENST00000348126.2_Missense_Mutation_p.S553L|PAM_ENST00000346918.2_Missense_Mutation_p.S660L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	660	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GTGCAGTTTTCACCAAGTGGA	0.438000													13	66					0	0	0.001855	0	0
BHMT2	23743	broad.mit.edu	37	5	78379594	78379594	+	Missense_Mutation	SNP	A	A	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:78379594A>G	ENST00000255192.3	+	7	991	c.925A>G	c.(925-927)Agg>Ggg	p.R309G	BHMT2_ENST00000521567.1_Missense_Mutation_p.R245G|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	309					methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCCCCAGAAAGGGGCTTTTT	0.537000													6	32					0	0	0.001984	0	0
GP5	2814	broad.mit.edu	37	3	194118222	194118222	+	Missense_Mutation	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr3:194118222G>A	ENST00000401815.1	-	1	861	c.790C>T	c.(790-792)Cat>Tat	p.H264Y	GP5_ENST00000323007.3_Missense_Mutation_p.H264Y			P40197	GPV_HUMAN	glycoprotein V (platelet)	264					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		TTGTGCGAATGAAGAAAGAGC	0.602000													13	70					0	0	0.001368	0	0
UNC5C	8633	broad.mit.edu	37	4	96222864	96222864	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:96222864C>T	ENST00000453304.1	-	3	731	c.383G>A	c.(382-384)cGc>cAc	p.R128H	UNC5C_ENST00000506749.1_Missense_Mutation_p.R128H|UNC5C_ENST00000504962.1_Missense_Mutation_p.R128H	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	128	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CACTTGCTGGCGCGAAATCTC	0.473000													13	28					0	0	0.001855	0	0
DDR1	780	broad.mit.edu	37	6	30866738	30866738	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr6:30866738C>T	ENST00000324771.8	+	19	3073	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V	DDR1_ENST00000418800.2_Missense_Mutation_p.A805V|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376567.2_Missense_Mutation_p.A805V|DDR1_ENST00000376570.4_Missense_Mutation_p.A805V|DDR1_ENST00000452441.1_Missense_Mutation_p.A842V|DDR1_ENST00000513240.1_Missense_Mutation_p.A848V|DDR1_ENST00000376569.3_Missense_Mutation_p.A805V|DDR1_ENST00000454612.2_Missense_Mutation_p.A805V|DDR1_ENST00000376575.3_Missense_Mutation_p.A848V|DDR1_ENST00000508312.1_Missense_Mutation_p.A823V|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376568.3_Missense_Mutation_p.A842V			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	842	Protein kinase.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CTCTGTAGGGCCCAGCCCTTT	0.617000													19	69					0	0	0.007413	0	0
TRIM51	84767	broad.mit.edu	37	11	55653267	55653267	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:55653267C>G	ENST00000449290.2	+	2	455	c.363C>G	c.(361-363)caC>caG	p.H121Q		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	121						intracellular	zinc ion binding										CTCAGGAGCACCGGAATCACA	0.488000													5	28					0	0	0.001168	0	0
RNF216	54476	broad.mit.edu	37	7	5780720	5780720	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:5780720C>G	ENST00000425013.2	-	4	981	c.757G>C	c.(757-759)Gag>Cag	p.E253Q	RNF216_ENST00000389902.3_Missense_Mutation_p.E310Q	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	253					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GGACCTGGCTCTTCATCATCA	0.517000													10	94					0	0	0.001855	0	0
SLC4A4	8671	broad.mit.edu	37	4	72121007	72121007	+	Missense_Mutation	SNP	G	G	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:72121007G>T	ENST00000425175.1	+	3	261	c.144G>T	c.(142-144)aaG>aaT	p.K48N	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Missense_Mutation_p.K48N|SLC4A4_ENST00000351898.6_Missense_Mutation_p.K48N	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	48						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			ACAAGAGAAAGACAGGGCACA	0.438000													38	119					1.30998e-17	2.61997e-17	0.005524	1	0
CREB3L4	148327	broad.mit.edu	37	1	153945906	153945906	+	Missense_Mutation	SNP	C	C	T	rs146463170		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:153945906C>T	ENST00000368607.3	+	8	1129	c.863C>T	c.(862-864)tCc>tTc	p.S288F	CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.S288F|CREB3L4_ENST00000368600.3_Missense_Mutation_p.S268F|CREB3L4_ENST00000368603.1_Missense_Mutation_p.S288F|CREB3L4_ENST00000405694.3_Missense_Mutation_p.S141F	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	288					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTCAAACTTCCAACAAAGCT	0.522000													16	78					0	0	0.003163	0	0
SSPO	23145	broad.mit.edu	37	7	149489170	149489170	+	RNA	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr7:149489170C>T	ENST00000378016.2	+	0	5415							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCTCAGGACGGCTGCCCCA	0.632000													11	56					0	0	0.001368	0	0
CACNG3	10368	broad.mit.edu	37	16	24372924	24372924	+	Silent	SNP	C	C	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:24372924C>A	ENST00000005284.3	+	4	1890	c.688C>A	c.(688-690)Cga>Aga	p.R230R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	230					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTACAGGTATCGATTCCGGAG	0.537000													17	63					9.16793e-09	1.77491e-08	0.004990	1	0
PITPNM1	9600	broad.mit.edu	37	11	67262422	67262422	+	Silent	SNP	G	G	A			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:67262422G>A	ENST00000356404.3	-	18	2862	c.2637C>T	c.(2635-2637)atC>atT	p.I879I	PITPNM1_ENST00000534749.1_Silent_p.I879I|PITPNM1_ENST00000436757.2_Silent_p.I878I	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	879	DDHD.				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTCCTTCTCGATCACCTGCA	0.662000													11	82					0	0	0.000978	0	0
PDP1	54704	broad.mit.edu	37	8	94934378	94934378	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr8:94934378C>T	ENST00000396200.3	+	3	442	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	PDP1_ENST00000297598.4_Missense_Mutation_p.H31Y|PDP1_ENST00000520728.1_Missense_Mutation_p.H31Y|PDP1_ENST00000517764.1_Missense_Mutation_p.H31Y	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	31					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						CCACCACAAACATCTCTGTTG	0.483000													10	100					0	0	0.006214	0	0
SPTBN5	51332	broad.mit.edu	37	15	42173394	42173394	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:42173394C>T	ENST00000320955.6	-	13	2723	c.2496G>A	c.(2494-2496)agG>agA	p.R832R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	832					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCCCTGGGTTCCTCAGGCTTT	0.632000													6	33					0	0	0.001168	0	0
ALPK1	80216	broad.mit.edu	37	4	113352354	113352354	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr4:113352354C>T	ENST00000458497.1	+	11	1930	c.1651C>T	c.(1651-1653)Caa>Taa	p.Q551*	ALPK1_ENST00000177648.9_Nonsense_Mutation_p.Q551*|ALPK1_ENST00000504176.2_Nonsense_Mutation_p.Q473*	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	551							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CTCCTTGGATCAAGATGTGGA	0.493000													9	69					0	0	0.004482	0	0
TOP3B	8940	broad.mit.edu	37	22	22314743	22314743	+	Missense_Mutation	SNP	A	A	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr22:22314743A>C	ENST00000398793.2	-	14	2038	c.1604T>G	c.(1603-1605)cTc>cGc	p.L535R	TOP3B_ENST00000357179.5_Missense_Mutation_p.L535R|TOP3B_ENST00000413067.2_3'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	535					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		GGTGGGCTTGAGCCGGCGCCC	0.612000													6	55					0	0	0.001168	0	0
TTN	7273	broad.mit.edu	37	2	179542570	179542570	+	Missense_Mutation	SNP	T	T	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:179542570T>C	ENST00000589042.1	-	146	34293	c.34069A>G	c.(34069-34071)Att>Gtt	p.I11357V	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I10113V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I11040V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11040	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGAACAATTTCTTCTTCA	0.418000													16	93					0	0	0.004990	0	0
GBF1	8729	broad.mit.edu	37	10	104128578	104128578	+	Missense_Mutation	SNP	C	C	G			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr10:104128578C>G	ENST00000369983.3	+	23	3219	c.2959C>G	c.(2959-2961)Ctc>Gtc	p.L987V		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	987					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATTCACAGCTCTCAGCAGTGA	0.502000													14	83					0	0	0.002450	0	0
LRP2	4036	broad.mit.edu	37	2	170058335	170058335	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr2:170058335C>T	ENST00000263816.3	-	44	8540	c.8255G>A	c.(8254-8256)cGa>cAa	p.R2752Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2752	LDL-receptor class A 17.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGGACACATCGCCCATTGGC	0.483000													9	33					0	0	0.004482	0	0
RIN3	79890	broad.mit.edu	37	14	93118383	93118383	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr14:93118383C>T	ENST00000216487.7	+	6	1148	c.989C>T	c.(988-990)cCa>cTa	p.P330L	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	330	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCAGGTCCCCCAGACCATCCG	0.697000													16	23					0	0	0.003163	0	0
SERTAD1	29950	broad.mit.edu	37	19	40929409	40929409	+	Silent	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr19:40929409C>T	ENST00000357949.4	-	2	203	c.45G>A	c.(43-45)gaG>gaA	p.E15E		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCT	0.562000													9	41					0	0	0.008291	0	0
ACTA1	58	broad.mit.edu	37	1	229568585	229568585	+	Missense_Mutation	SNP	C	C	T			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:229568585C>T	ENST00000366684.3	-	3	274	c.172G>A	c.(172-174)Gac>Aac	p.D58N	ACTA1_ENST00000366683.2_Missense_Mutation_p.D58N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	58					muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)			Dornase Alfa(DB00003)	TGAGCCTCGTCGCCCACGTAG	0.597000													18	78					0	0	0.008871	0	0
CAPZA1	829	broad.mit.edu	37	1	113209755	113209758	+	Frame_Shift_Del	DEL	ACTA	ACTA	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr1:113209755_113209758delACTA	ENST00000263168.3	+	8	1317_1320	c.645_648delACTA	c.(643-648)tcfs	p.SL215fs	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	215					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex|WASH complex	actin binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACAGGATTCACTAACTGTTTCGG	0.368													12	74	---	---	---	---					
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557		TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)gggcgg>ggGGCgcgg	p.21_22GR>GAR		NM_001085377.1	NP_001078846.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	549					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738													8	11	---	---	---	---					
PHF2	5253	broad.mit.edu	37	9	96439004	96439005	+	In_Frame_Ins	INS	-	-	CCTGCCTCCACCACA	rs75653373	by1000genomes	TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr9:96439004_96439005insCCTGCCTCCACCACA	ENST00000359246.4	+	21	3328_3329	c.2961_2962insCCTGCCTCCACCACA	c.(2959-2964)accggc>acCCTGCCTCCACCACAcggc	p.987_988TG>TLPPPHG	PHF2_ENST00000375376.4_In_Frame_Ins_p.218_219TG>TLPPPHG	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	987	Ser/Thr-rich.				liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	p.T987_P988insPASTT(1)|p.T987T(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		cctctaccaccccggcctccac	0.688													4	2	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)del	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635													2	4	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46243822	46243823	+	Frame_Shift_Ins	INS	-	-	C			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr12:46243822_46243823insC	ENST00000334344.6	+	15	2088_2089	c.1916_1917insC	c.(1915-1917)accfs	p.T639fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.T490fs|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.T249fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	639					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTTCAGGAATCCCTCATGGAT	0.337			"""N, S, F"""		hepatocellular carcinoma								24	62	---	---	---	---					
NARG2	79664	broad.mit.edu	37	15	60745913	60745914	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr15:60745913_60745914delTC	ENST00000261520.4	-	9	1247_1248	c.1013_1014delGA	c.(1012-1014)afs	p.R338fs	NARG2_ENST00000561114.1_Frame_Shift_Del_p.R338fs|NARG2_ENST00000439632.1_Frame_Shift_Del_p.R201fs	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	338						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						AGATTTGATTTCTCTCTCTCAT	0.317													12	76	---	---	---	---					
GRIN2A	2903	broad.mit.edu	37	16	10274133	10274135	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-D6-6826-01A-11D-1912-08	TCGA-D6-6826-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	368030ac-f855-452a-a3d3-3698ab9a00dd	fec68b4e-7544-4bf0-8ceb-10e833435522	g.chr16:10274133_10274135delCGT	ENST00000396573.2	-	3	443_445	c.134_136delACG	c.(133-138)gtg>g	p.DV45del	GRIN2A_ENST00000404927.2_In_Frame_Del_p.DV45del|GRIN2A_ENST00000562109.1_In_Frame_Del_p.DV45del|GRIN2A_ENST00000396575.2_In_Frame_Del_p.DV45del|GRIN2A_ENST00000330684.3_In_Frame_Del_p.DV45del	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	45					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.V46L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTCTGTCACGTCGTGGCTGTG	0.695													37	87	---	---	---	---