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
PPP2R5E	5529	broad.mit.edu	37	14	63858584	63858584	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:63858584A>G	uc001xgd.1	-	10	1494	c.904_splice	c.e10-1	p.V302_splice	PPP2R5E_uc010tsf.1_Splice_Site_p.V226_splice|PPP2R5E_uc010tsg.1_Splice_Site_p.V226_splice|PPP2R5E_uc010tsh.1_Splice_Site_p.V302_splice|PPP2R5E_uc001xge.2_Splice_Site_p.V302_splice|PPP2R5E_uc001xgf.1_Splice_Site	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	302					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCCCCTAATAACCTAAAATGA	0.299000													13	40					0	0	1	0	0
FAM65A	79567	broad.mit.edu	37	16	67579900	67579900	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:67579900C>T	uc010vjp.2	+	19	3682	c.3496C>T	c.(3496-3498)Cga>Tga	p.R1166*	FAM65A_uc002eth.3_Nonsense_Mutation_p.R1146*|FAM65A_uc010cej.3_Nonsense_Mutation_p.R1150*|FAM65A_uc010vjq.2_Nonsense_Mutation_p.R1160*|FAM65A_uc002etk.3_Nonsense_Mutation_p.R1144*	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	1150						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CGTGCAGACTCGAGTGGCTGG	0.657000													57	37					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69918245	69918245	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:69918245G>T	uc001jnm.4	+	7	1505	c.1320G>T	c.(1318-1320)atG>atT	p.M440I	MYPN_uc001jnl.1_Missense_Mutation_p.M440I|MYPN_uc001jnn.4_Missense_Mutation_p.M165I|MYPN_uc001jno.4_Missense_Mutation_p.M440I|MYPN_uc001jnp.1_Missense_Mutation_p.M440I|MYPN_uc009xps.3_Missense_Mutation_p.M440I|MYPN_uc009xpt.3_Missense_Mutation_p.M440I|MYPN_uc010qit.2_Missense_Mutation_p.M146I|MYPN_uc010qiu.2_Non-coding_Transcript	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN	Homo sapiens myopalladin (MYPN), transcript variant 1, mRNA.	440	Ig-like 2.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CATTATAGATGCTACAAAATT	0.363000													4	37					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55463904	55463904	+	Silent	SNP	C	C	A	rs138084091	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:55463904C>A	uc002ryn.3	-	16	2801	c.2064G>T	c.(2062-2064)acG>acT	p.T688T	MTIF2_uc010yox.2_Silent_p.T357T|MTIF2_uc002ryo.3_Silent_p.T688T	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	688					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						AATCCATTCCCGTTTTGACAA	0.313000													5	17					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	2985712	2985712	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:2985712C>T	uc010zqd.2	+	8	1099	c.782C>T	c.(781-783)gCa>gTa	p.A261V	PTPRA_uc002whj.3_Missense_Mutation_p.A250V|PTPRA_uc010zqc.1_Missense_Mutation_p.A135V|PTPRA_uc002whk.3_Missense_Mutation_p.A241V|PTPRA_uc002whl.3_Missense_Mutation_p.A241V|PTPRA_uc002whm.3_Missense_Mutation_p.A17V|PTPRA_uc002whn.3_Missense_Mutation_p.A241V|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	250	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCTCTCCCTGCATGTCCTATC	0.438000													5	244					0	0	1	0	0
TH1L	51497	broad.mit.edu	37	20	57564966	57564966	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:57564966C>T	uc002yag.3	+	6	765	c.738C>T	c.(736-738)tcC>tcT	p.S246S	TH1L_uc002yaf.1_Non-coding_Transcript	NM_198976	NP_945327	Q8IXH7	NELFD_HUMAN	Homo sapiens TH1-like (Drosophila) (TH1L), transcript variant 1, mRNA.	246					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23	all_lung(29;0.00711)		Colorectal(105;0.109)			CCATGATGTCCGTGCTGGCCC	0.617000													24	102					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62582864	62582864	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:62582864G>A	uc001dab.3	+	36	4978	c.4864G>A	c.(4864-4866)Gca>Aca	p.A1622T	INADL_uc001dac.3_Non-coding_Transcript|INADL_uc010oot.2_Missense_Mutation_p.A436T|INADL_uc009wag.3_Missense_Mutation_p.A406T	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1622					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGGACCTCCGCAAGGACGAC	0.483000													3	30					0	0	1	0	0
SMARCA5	8467	broad.mit.edu	37	4	144445586	144445586	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:144445586C>T	uc003ijg.3	+	3	948	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	162					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	NURF complex|RSF complex|condensed chromosome|nucleolus|nucleoplasm	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CCAAAGCAACCAATGTTTGCA	0.363000													12	25					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													3	31					0	0	1	0	0
RCSD1	92241	broad.mit.edu	37	1	167663457	167663457	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:167663457G>A	uc001gem.3	+	4	579	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	RCSD1_uc010pli.2_Missense_Mutation_p.R101Q	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	131										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					CCTGGTGTGCGATCTAGGCCC	0.592000													9	84					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:150444176G>A	uc009wlr.3	+	10	2953	c.2752G>A	c.(2752-2754)Gta>Ata	p.V918I	RPRD2_uc010pcc.1_Missense_Mutation_p.V892I|RPRD2_uc001eup.4_Missense_Mutation_p.V892I	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	918	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCTTCAGCGTAAGAGGGAA	0.507000													5	367					0	0	1	0	0
TM9SF1	10548	broad.mit.edu	37	14	24679649	24679649	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:24679649T>A	uc010tob.1	-	4	1227	c.593A>T	c.(592-594)gAa>gTa	p.E198V	TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_Missense_Mutation_p.E215V|TM9SF1_uc001wnj.3_Missense_Mutation_p.E215V	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	0					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CTGGGCCAATTCCTCCTGCTC	0.483000													106	141					0	0	1	0	0
ADCK4	79934	broad.mit.edu	37	19	41220036	41220036	+	Silent	SNP	C	C	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:41220036C>G	uc002oor.2	-	3	527	c.225G>C	c.(223-225)ctG>ctC	p.L75L	ADCK4_uc002ooq.2_Silent_p.L75L|ADCK4_uc002oos.2_Silent_p.L75L|ITPKC_uc002oot.3_5'Flank	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	75						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			AGCGGTCACTCAGCTGGGAAA	0.617000													4	90					0	0	1	0	0
AK097470	0	broad.mit.edu	37	7	136849062	136849062	+	RNA	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:136849062C>T	uc003vtp.1	-	0		c.27G>A								Homo sapiens clone N1 NTera2D1 teratocarcinoma mRNA.																		TAACGGATGACGTACGGGTTC	0.597000													18	58					0	0	1	0	0
CD3E	916	broad.mit.edu	37	11	118178014	118178014	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:118178014G>A	uc001psq.4	+	2	317	c.61G>A	c.(61-63)Ggg>Agg	p.G21R	CD3E_uc010rya.2_Missense_Mutation_p.G21R	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	21					G-protein coupled receptor protein signaling pathway|T cell costimulation|T cell receptor signaling pathway|signal complex assembly|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	SH3 domain binding|T cell receptor binding|protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	TGGCGTTTGGGGGCAAGATGG	0.378000													13	9					0	0	1	0	0
MFSD8	256471	broad.mit.edu	37	4	128878655	128878655	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:128878655C>A	uc003ifp.3	-	3	317	c.154_splice	c.e3+1	p.G52_splice	MFSD8_uc011cgu.2_Splice_Site_p.G7_splice|MFSD8_uc011cgv.1_Splice_Site_p.G52_splice|MFSD8_uc011cgw.1_Splice_Site|MFSD8_uc011cgx.1_Splice_Site_p.G7_splice	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.	52			G -> R (in CLN7).		cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						CTAATACTTACCTACACTGCT	0.299000													13	33					0	0	1	0	0
TMPRSS4	56649	broad.mit.edu	37	11	117969704	117969704	+	Silent	SNP	C	C	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:117969704C>G	uc021qrd.1	+	2	339	c.48C>G	c.(46-48)gtC>gtG	p.V16V	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Silent_p.V16V|TMPRSS4_uc010rxo.2_Silent_p.V14V|TMPRSS4_uc010rxs.2_Intron|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_5'UTR|TMPRSS4_uc010rxt.2_5'UTR	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	16					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D15Y(1)		breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TTGCAGATGTCAAACCCCTGC	0.557000													17	48					0	0	1	0	0
DOPEY1	23033	broad.mit.edu	37	6	83846928	83846928	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:83846928G>T	uc011dyy.2	+	20	3400	c.3140G>T	c.(3139-3141)gGt>gTt	p.G1047V	DOPEY1_uc003pjs.1_Missense_Mutation_p.G1056V|DOPEY1_uc010kbl.1_Missense_Mutation_p.G1047V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1056					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGGAAATGGTGAAAAGCCA	0.338000													9	47					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107007067	107007067	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:107007067T>A	uc001kyi.1	+	21	3310	c.3083T>A	c.(3082-3084)gTc>gAc	p.V1028D	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1028						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		ATTGGCAATGTCATCAAGCGA	0.393000													9	34					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:153247366C>T	uc003ims.3	-	9	1598	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_uc011cii.2_Missense_Mutation_p.R479Q|FBXW7_uc003imt.3_Missense_Mutation_p.R479Q|FBXW7_uc011cih.2_Missense_Mutation_p.R303Q|FBXW7_uc003imq.3_Missense_Mutation_p.R399Q|FBXW7_uc003imr.3_Missense_Mutation_p.R361Q	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	479					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R479Q(62)|p.R479L(11)|p.R479G(3)|p.R399Q(3)|p.R479P(3)|p.R479*(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R479R(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								53	46					0	0	1	0	0
ROBO1	6091	broad.mit.edu	37	3	78683127	78683127	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:78683127C>T	uc003dqe.2	-	23	3647	c.3439G>A	c.(3439-3441)Gga>Aga	p.G1147R	ROBO1_uc003dqc.2_Missense_Mutation_p.G1047R|ROBO1_uc003dqd.2_Missense_Mutation_p.G1102R|ROBO1_uc003dqb.2_Missense_Mutation_p.G1108R|ROBO1_uc010hoh.2_Missense_Mutation_p.G339R|ROBO1_uc011bgl.1_Missense_Mutation_p.G719R	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1147					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TAGGATCCTCCTGTGTTCTGG	0.393000													14	32					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000													3	18					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169084	32169084	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:32169084G>A	uc003obb.3	-	21	4088	c.3949C>T	c.(3949-3951)Cgg>Tgg	p.R1317W	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1317					Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GACAGCACCCGGGCCAGGGCA	0.642000													17	85					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073782	9073782	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:9073782A>G	uc002mkp.3	-	2	13868	c.13664T>C	c.(13663-13665)cTc>cCc	p.L4555P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4557	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGACTGGGAGAGTGGAATG	0.493000													13	18					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3778746	3778746	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:3778746A>G	uc002cvv.3	-	30	6506	c.6302T>C	c.(6301-6303)aTc>aCc	p.I2101T	CREBBP_uc002cvw.3_Missense_Mutation_p.I2063T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	2101					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.I2101M(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCGCTGTTTGATGAAAGCTGC	0.612000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						195	20					0	0	1	0	0
ADAMTS3	9508	broad.mit.edu	37	4	73188778	73188778	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:73188778G>A	uc003hgk.2	-	5	935	c.898C>T	c.(898-900)Cat>Tat	p.H300Y		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	300	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACATTTATATGCACTCCGAGG	0.363000													36	122					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95114274	95114274	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:95114274A>T	uc010afh.3	-	4	1460	c.1033T>A	c.(1033-1035)Ttc>Atc	p.F345I	DCT_uc001vlv.4_Missense_Mutation_p.F345I	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	345					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		CTGAAACTGAAGGTAGAGTTC	0.458000													11	25					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32232998	32232998	+	Silent	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr22:32232998T>C	uc011alu.2	+	25	2413	c.2211T>C	c.(2209-2211)tgT>tgC	p.C737C	DEPDC5_uc011als.2_Silent_p.C659C|DEPDC5_uc003als.3_Silent_p.C728C|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.C728C|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.C177C|DEPDC5_uc011alw.1_Silent_p.C58C|DEPDC5_uc003alw.3_Silent_p.C26C|DEPDC5_uc011alx.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	728					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGGCTTCTGTTGCACAGTTG	0.577000													30	36					0	0	1	0	0
ZNF735	730291	broad.mit.edu	37	7	63679881	63679881	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:63679881A>T	uc011kdn.2	+	3	452	c.452A>T	c.(451-453)aAt>aTt	p.N151I		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										TGTTTGTCAAATACCCAAAAC	0.308000													11	53					0	0	1	0	0
CPOX	1371	broad.mit.edu	37	3	98304286	98304286	+	Splice_Site	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:98304286G>C	uc003dsx.3	-	5	1279	c.1172_splice	c.e5+1	p.R391_splice		NM_000097	NP_000088	P36551	HEM6_HUMAN	Homo sapiens coproporphyrinogen oxidase (CPOX), mRNA.	391						mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTCACTTACCGTCCTCTTCTG	0.478000													47	144					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521054	33521054	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:33521054G>A	uc002hjd.2	-	0	359	c.273C>T	c.(271-273)ggC>ggT	p.G91G		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	91	DUF6 1.					integral to membrane											GAAGGGGGTCGCCACGCAGTT	0.587000													123	13					0	0	1	0	0
LRRCC1	85444	broad.mit.edu	37	8	86038971	86038971	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:86038971T>G	uc003ycw.3	+	8	1528	c.1320T>G	c.(1318-1320)gcT>gcG	p.A440A	LRRCC1_uc010lzz.2_Non-coding_Transcript|LRRCC1_uc022awx.1_Silent_p.A347A|LRRCC1_uc010maa.2_Silent_p.A141A|LRRCC1_uc003ycy.3_Silent_p.A420A	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	440					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GATGGAGAGCTGAGCAAGCCG	0.373000													13	24					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180337633	180337633	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:180337633A>T	uc010hxe.3	-	14	2239	c.2124T>A	c.(2122-2124)aaT>aaA	p.N708K	CCDC39_uc003fkn.3_Intron	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	708					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			ATTGCTTATAATTGTTGTTAC	0.338000													4	16					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136342011	136342011	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:136342011T>C	uc003era.1	-	2	401	c.109A>G	c.(109-111)Agg>Ggg	p.R37G	STAG1_uc003erb.1_Missense_Mutation_p.R37G|STAG1_uc003erc.1_5'UTR|STAG1_uc010hua.1_5'UTR|STAG1_uc003ere.3_Missense_Mutation_p.R37G	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	37					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGACGACCCCTTTTTCTTTTT	0.388000													4	207					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43088129	43088129	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:43088129T>G	uc001jaf.1	-	4	2384	c.2269A>C	c.(2269-2271)Acc>Ccc	p.T757P	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.T645P|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	757						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TGAGAGAAGGTTTTCCTGCAT	0.358000													28	116					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36044045	36044045	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:36044045G>A	uc002oal.1	-	17	2674	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M	ATP4A_uc010eee.1_Missense_Mutation_p.T40M	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	882					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.F881F(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCCATTGCCGTGAAGTAGTC	0.602000													4	132					0	0	1	0	0
PTPRM	5797	broad.mit.edu	37	18	8380347	8380347	+	Silent	SNP	A	A	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:8380347A>C	uc002knn.4	+	26	4304	c.3801A>C	c.(3799-3801)acA>acC	p.T1267T	PTPRM_uc010dkv.3_Silent_p.T1280T|PTPRM_uc010wzl.2_Silent_p.T1054T	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1267	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGCCAAACACAGTGAAAGACT	0.443000													16	84					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774911	151774911	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:151774911G>T	uc001ezf.1	-	1	460	c.270C>A	c.(268-270)gaC>gaA	p.D90E	LINGO4_uc021oyu.1_Missense_Mutation_p.D90E	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	90						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGTAGCTGAGGTCCAATTCCT	0.612000													10	68					0	0	1	0	0
MCM3	4172	broad.mit.edu	37	6	52143605	52143605	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:52143605C>A	uc003pan.1	-	5	924	c.814G>T	c.(814-816)Gct>Tct	p.A272S	MCM3_uc011dwu.1_Missense_Mutation_p.A226S	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	272					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GAGGGCTGAGCATCCTTGCTC	0.438000													10	109					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949947	198949947	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:198949947C>T	uc010fsp.3	+	1	2104	c.1706C>T	c.(1705-1707)tCg>tTg	p.S569L	PLCL1_uc002uuv.4_Missense_Mutation_p.S490L	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	569					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGAAGGATGTCGGTAGATTAC	0.398000													21	45					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39962347	39962347	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:39962347C>T	uc002olo.4	+	19	2106	c.1927C>T	c.(1927-1929)Ctg>Ttg	p.L643L	SUPT5H_uc002olp.4_Silent_p.L643L|SUPT5H_uc002olq.4_Silent_p.L639L|SUPT5H_uc002oln.4_Silent_p.L643L|SUPT5H_uc002olr.4_Silent_p.L643L|SUPT5H_uc002ols.1_Silent_p.L266L|SUPT5H_uc010egp.1_Silent_p.L9L	NM_001111020	NP_003160	O00267	SPT5H_HUMAN	Homo sapiens suppressor of Ty 5 homolog (S. cerevisiae) (SUPT5H), transcript variant 2, mRNA.	643					cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GACCCGCCACCTGGTGCTGGC	0.602000													10	47					0	0	1	0	0
TSFM	10102	broad.mit.edu	37	12	58177020	58177020	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:58177020T>C	uc001sqi.3	+	1	242	c.185T>C	c.(184-186)gTa>gCa	p.V62A	TSFM_uc021qzq.1_Missense_Mutation_p.V62A|TSFM_uc001sqh.3_Missense_Mutation_p.V62A|TSFM_uc010ssf.2_Missense_Mutation_p.V62A|TSFM_uc010sse.2_5'UTR	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	62					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TACTCCTTTGTAAATTGCAAG	0.567000											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	101					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349485	101349485	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:101349485G>C	uc010txj.1	-	0	1700	c.1641C>G	c.(1639-1641)caC>caG	p.H547Q	MIR432_uc021sce.1_5'Flank|MIR136_uc010txk.1_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	547										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GGCTCATGCCGTGCCTCTCTA	0.602000													8	1					0	0	1	0	0
DDX11L2	84771	broad.mit.edu	37	2	114357557	114357557	+	Nonstop_Mutation	SNP	A	A	G	rs115341812	by1000genomes	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:114357557A>G	uc010yxx.1	-	2	709	c.382T>C	c.(382-384)Tag>Cag	p.*128Q						Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 2 (DDX11L2), transcript variant 2, non-coding RNA.																		GCCTACTTCTAGTGAAACTGG	0.567000													4	27					0	0	1	0	0
KIAA0913	23053	broad.mit.edu	37	10	75554072	75554072	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:75554072C>T	uc001jvj.3	+	12	3048	c.2793C>T	c.(2791-2793)gaC>gaT	p.D931D	KIAA0913_uc001jve.3_Silent_p.D931D|KIAA0913_uc009xrl.3_Silent_p.D931D|KIAA0913_uc001jvf.3_Silent_p.D931D|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Silent_p.D354D|KIAA0913_uc010qkr.2_Silent_p.D354D	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	931							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					TCATCTTTGACGTTCTCTGTG	0.537000													110	43					0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29850241	29850241	+	Missense_Mutation	SNP	G	G	A	rs144218911	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:29850241G>A	uc002kxl.3	-	4	1728	c.1672C>T	c.(1672-1674)Cgg>Tgg	p.R558W	FAM59A_uc002kxk.2_Missense_Mutation_p.R558W	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	558	Pro-rich.							p.A557V(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						GTCTGTTGCCGCGCTGGCTTG	0.582000													16	67					0	0	1	0	0
CDCP2	200008	broad.mit.edu	37	1	54605311	54605311	+	Missense_Mutation	SNP	C	C	T	rs138436244	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:54605311C>T	uc001cwv.1	-	3	2080	c.1232G>A	c.(1231-1233)gGt>gAt	p.G411D		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	411						extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTGGAGAAGACCATTCATGGG	0.597000													50	23					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132489700	132489700	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:132489700C>T	uc001ujn.3	+	12	3058	c.2906C>T	c.(2905-2907)cCt>cTt	p.P969L	EP400_uc021rgq.1_Missense_Mutation_p.P968L|EP400_uc001ujm.3_Missense_Mutation_p.P969L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1005	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CGGCCGAAGCCTGATGGGGAG	0.567000													6	7					0	0	1	0	0
abParts	0	broad.mit.edu	37	2	89976340	89976340	+	RNA	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:89976340C>T	uc010yts.2	+	10		c.1637C>T								Parts of antibodies, mostly variable regions.																		ATCTCCAAGGCGCCTAATTTA	0.517000													47	6					0	0	1	0	0
RAB33A	9363	broad.mit.edu	37	X	129306073	129306073	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:129306073C>A	uc004evl.3	+	0	301	c.37C>A	c.(37-39)Ccc>Acc	p.P13T	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	13					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCCTGCAGCCCGCCTCGGC	0.647000													19	18					0	0	1	0	0
CCDC76	54482	broad.mit.edu	37	1	100613620	100613620	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:100613620A>G	uc001dsv.3	+	9	1007	c.988A>G	c.(988-990)Att>Gtt	p.I330V	CCDC76_uc010ouf.2_Intron|CCDC76_uc009wea.3_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	330					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TGTGGCTGGCATTGTTATTGC	0.413000													18	39					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195508194	195508194	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:195508194T>G	uc021xjp.1	-	1	10413	c.10257A>C	c.(10255-10257)acA>acC	p.T3419T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	187					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.587000													4	11					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245775144	245775144	+	Missense_Mutation	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:245775144T>G	uc001ibf.1	+	8	2404	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	KIF26B_uc010pyq.1_Missense_Mutation_p.F655C|KIF26B_uc001ibg.1_Missense_Mutation_p.F273C	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	655	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGGCTGCCTTTTTCCTGGAT	0.602000													19	52					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:76715225G>A	uc003pik.1	-	9	1044	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	305	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448000													17	94					0	0	1	0	0
OR1N2	138882	broad.mit.edu	37	9	125315642	125315642	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:125315642C>A	uc011lyx.2	+	0	194	c.194C>A	c.(193-195)gCc>gAc	p.A65D		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTATCCTGGCCATCAGCTCT	0.522000													45	44					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773229	60773229	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:60773229A>G	uc002sae.1	-	1	490	c.262T>C	c.(262-264)Tca>Cca	p.S88P	BCL11A_uc002sab.3_Missense_Mutation_p.S88P|BCL11A_uc002sac.3_Missense_Mutation_p.S88P|BCL11A_uc010ypi.2_5'UTR|BCL11A_uc010ypj.2_Missense_Mutation_p.S88P|BCL11A_uc002saf.1_Missense_Mutation_p.S88P|BCL11A_uc010fcg.3_Missense_Mutation_p.S88P	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	88	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGATTGGTGAAGGGGAAGGT	0.463000			T	IGH@	B-CLL								20	46					0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43248429	43248429	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:43248429A>T	uc002lbe.3	+	14	2839	c.2023A>T	c.(2023-2025)Atg>Ttg	p.M675L	SLC14A2_uc010dnj.3_Missense_Mutation_p.M675L	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	675						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGTCATCATCATGTCCATGTC	0.498000													16	88					0	0	1	0	0
BC080605	0	broad.mit.edu	37	9	68414624	68414624	+	RNA	SNP	A	A	C	rs71278399		TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:68414624A>C	uc004aex.3	+	0		c.1179A>C								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		aaaaaaaaaaaacgattcttt	0.413000													2	1					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95403998	95403998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:95403998G>A	uc003ygk.3	-	9	1779	c.1648C>T	c.(1648-1650)Cga>Tga	p.R550*	RAD54B_uc010may.2_Nonsense_Mutation_p.R366*|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GCTCCTGGTCGGCAAAAGACA	0.393000								Direct reversal of damage;Homologous recombination					40	96					0	0	1	0	0
GAST	2520	broad.mit.edu	37	17	39872040	39872040	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:39872040G>C	uc002hxl.3	+	2	289	c.222G>C	c.(220-222)aaG>aaC	p.K74N	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	74						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ACCCGTCCAAGAAGCAGGGAC	0.557000													23	114					0	0	1	0	0
KANSL2	54934	broad.mit.edu	37	12	49054403	49054403	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:49054403C>A	uc001rrz.2	-	7	1567	c.1523_splice	c.e7-1	p.H508_splice	KANSL2_uc001rrw.2_Splice_Site_p.H130_splice|KANSL2_uc001rrx.2_Splice_Site_p.H325_splice|KANSL2_uc001rry.2_Intron	NM_017822	NP_060292	Q9H9L4	CL041_HUMAN	Homo sapiens KAT8 regulatory NSL complex subunit 2 (KANSL2), mRNA.	325																	TGACAAATATCTGTAGAAAAA	0.403000													3	11					0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195692311	195692311	+	Missense_Mutation	SNP	T	T	C	rs62282793	by1000genomes	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:195692311T>C	uc003fvy.3	-	2	346	c.232A>G	c.(232-234)Agc>Ggc	p.S78G	SDHAP1_uc003fvx.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		TTCCCAGTGCTGACGTCCACA	0.607000													5	22					0	0	1	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045110	55045110	+	RNA	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:55045110A>G	uc010yfa.1	+	2		c.336A>G			KIR3DX1_uc010yfb.1_Non-coding_Transcript|KIR3DX1_uc010yfc.1_Non-coding_Transcript|KIR3DX1_uc010yfd.1_Non-coding_Transcript					Homo sapiens killer cell immunoglobulin-like receptor, three domains, X1 (KIR3DX1), non-coding RNA.											endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GGCCTTTCCAACAACATCACC	0.507000													10	48					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443752	5443752	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:5443752G>T	uc010qzd.2	+	0	412	c.322G>T	c.(322-324)Gga>Tga	p.G108*	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H107D(1)		endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCTTCATGGATTCTCCTT	0.502000													57	38					0	0	1	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33391325	33391325	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:33391325C>T	uc011dri.2	+	1	334	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R32W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R32W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	47					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						TTGGAACCCTCGGTTCTGCAT	0.542000													43	172					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50249133	50249133	+	Silent	SNP	T	T	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:50249133T>G	uc001wwx.3	+	10	1402	c.1002T>G	c.(1000-1002)gtT>gtG	p.V334V	NEMF_uc010anj.1_Intron	NM_014315	NP_055130	Q9Y2U9	KLDC2_HUMAN	Homo sapiens kelch domain containing 2 (KLHDC2), mRNA.	334						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					AAGTAATTGTTTTTGGTGGAT	0.403000													16	42					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46714224	46714224	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:46714224C>A	uc001cpl.2	+	1	755	c.44C>A	c.(43-45)cCt>cAt	p.P15H	RAD54L_uc009vye.2_Missense_Mutation_p.P15H	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	15					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.P15H(2)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGAGAAAACCTGAAGGCAGG	0.547000								Direct reversal of damage;Homologous recombination					18	35					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83403058	83403058	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chrX:83403058G>A	uc004eej.2	-	3	368	c.332C>T	c.(331-333)tCt>tTt	p.S111F	RPS6KA6_uc011mqt.2_Missense_Mutation_p.S111F|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S8F|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.S111F(2)|p.A110fs*3(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ACCTTTTAAAGAGGCTTTTTT	0.299000													9	14					0	0	1	0	0
CELF6	60677	broad.mit.edu	37	15	72608246	72608246	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr15:72608246G>A	uc002aui.2	-	1	1113	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	BC034424_uc002aug.3_Intron|CELF6_uc002auk.3_Non-coding_Transcript|CELF6_uc010biv.1_Non-coding_Transcript|CELF6_uc002auh.2_Silent_p.C95C|CELF6_uc010ukm.1_Silent_p.C95C|CELF6_uc002auj.2_5'UTR	NM_001172685	NP_001166156	Q96J87	CELF6_HUMAN	Homo sapiens CUGBP, Elav-like family member 6 (CELF6), transcript variant 3, mRNA.	0					mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	RNA binding|nucleotide binding	p.R218C(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						AGTCCCGGGCGCAGTAGGTGA	0.587000													3	18					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152823805	152823805	+	Missense_Mutation	SNP	T	T	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:152823805T>A	uc021zhb.1	-	7	1074	c.851A>T	c.(850-852)gAc>gTc	p.D284V	SYNE1_uc003qot.4_Missense_Mutation_p.D291V|SYNE1_uc003qou.4_Missense_Mutation_p.D284V|SYNE1_uc010kjb.1_Missense_Mutation_p.D284V|SYNE1_uc003qpa.1_Missense_Mutation_p.D284V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	284	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTGTGGATGTCAGGATAATG	0.373000										HNSCC(10;0.0054)			9	44					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104492131	104492131	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:104492131C>T	uc001tkj.4	+	12	1854	c.1751C>T	c.(1750-1752)cCt>cTt	p.P584L	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	584	Fibronectin type-III 2.				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGAGACTCCTTCAAATCCA	0.343000													8	27					0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44856148	44856148	+	Splice_Site	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr20:44856148G>T	uc002xrm.2	-	3	1069	c.670_splice	c.e3+1	p.G224_splice	CDH22_uc010ghk.1_Splice_Site_p.G224_splice	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				gccccTCACCGGTCTTGGGGT	0.716000													6	20					0	0	1	0	0
KCNK5	8645	broad.mit.edu	37	6	39162482	39162482	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:39162482T>C	uc003oon.3	-	2	717	c.353A>G	c.(352-354)tAt>tGt	p.Y118C		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	118					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAAGAGACCATAGAAAACACA	0.582000													39	177					0	0	1	0	0
CR627148	0	broad.mit.edu	37	9	66466226	66466226	+	RNA	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:66466226A>G	uc004aec.3	+	2		c.859A>G								Homo sapiens, clone IMAGE:5213378, mRNA.																		cctagcggagagagagccgga	0.453000													4	5					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652752	1652752	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:1652752C>T	uc002qxa.3	-	16	2864	c.2800G>A	c.(2800-2802)Ggc>Agc	p.G934S		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	934					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGCAGCAGGCCGCGGTGGCTG	0.692000													18	28					0	0	1	0	0
FAM92B	339145	broad.mit.edu	37	16	85135890	85135890	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:85135890G>A	uc021tma.1	-	6	737	c.581C>T	c.(580-582)gCc>gTc	p.A194V	FAM92B_uc021tlz.1_Missense_Mutation_p.A192V	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	194										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CACCGCTTTGGCATGGAAAAC	0.473000													12	35					0	0	1	0	0
ZNF680	340252	broad.mit.edu	37	7	63981662	63981662	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:63981662G>A	uc003tta.2	-	3	1643	c.1470C>T	c.(1468-1470)taC>taT	p.Y490Y		NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	490					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				CTTCACATTTGTAGGGTTTCT	0.383000													6	102					0	0	1	0	0
MRPL36	64979	broad.mit.edu	37	5	1798835	1798835	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:1798835A>G	uc003jcx.4	-	1	278	c.215T>C	c.(214-216)cTt>cCt	p.L72P	MRPL36_uc021xwh.1_Missense_Mutation_p.L72P|NDUFS6_uc003jcy.3_5'Flank	NM_032479	NP_115868	Q9P0J6	RM36_HUMAN	Homo sapiens mitochondrial ribosomal protein L36 (MRPL36), nuclear gene encoding mitochondrial protein, mRNA.	72					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GCGCTTCTTAAGGACAGTCTT	0.592000													8	365					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:107049681T>C	uc010ywi.1	-	15	2323	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	756					intracellular transport		binding	p.N756D(9)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373000													4	194					0	0	1	0	0
NR1H3	10062	broad.mit.edu	37	11	47282969	47282969	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:47282969G>A	uc009ylm.3	+	4	927	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	NR1H3_uc010rhk.2_Missense_Mutation_p.R232Q|NR1H3_uc009yll.2_Missense_Mutation_p.R232Q|NR1H3_uc001nek.3_Missense_Mutation_p.R181Q|NR1H3_uc001nen.4_Missense_Mutation_p.R226Q|NR1H3_uc001nem.3_Missense_Mutation_p.R226Q	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	226	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R226Q(2)|p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						CAGTGTAACCGGCGCTCCTTT	0.622000													25	60					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166962019	166962019	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:166962019G>A	uc001gdy.1	+	3	493	c.422G>A	c.(421-423)tGt>tAt	p.C141Y	MAEL_uc021peh.1_Missense_Mutation_p.C85Y|MAEL_uc001gdz.1_Missense_Mutation_p.C110Y|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	141					DNA methylation involved in gamete generation|cell differentiation|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						GAAATTGGCTGTGTTAAGTAT	0.398000													21	87					0	0	1	0	0
PHLPP2	23035	broad.mit.edu	37	16	71701133	71701133	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:71701133G>A	uc002fax.3	-	10	1738	c.1732C>T	c.(1732-1734)Cag>Tag	p.Q578*	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Nonsense_Mutation_p.Q578*	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	578						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GCATTATGCTGAAGATCCAGC	0.463000													24	43					0	0	1	0	0
DCTN2	10540	broad.mit.edu	37	12	57924490	57924490	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr12:57924490C>T	uc021qzn.1	-	15	1335	c.1203G>A	c.(1201-1203)atG>atA	p.M401I	DCTN2_uc001som.1_Missense_Mutation_p.M396I|DCTN2_uc009zpv.1_Missense_Mutation_p.M309I|DCTN2_uc009zpw.1_Missense_Mutation_p.M309I	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	396					G2/M transition of mitotic cell cycle|cell proliferation|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						CCAGCTTCTTCATCCGTTCAT	0.478000													58	39					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	48881414	48881414	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr13:48881414A>G	uc001vcb.3	+	2	304	c.138_splice	c.e2-2	p.R46_splice	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	46					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCATTTGGTAGGCTTGAGTT	0.313000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			21	2					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94770860	94770860	+	Silent	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr14:94770860C>T	uc001ycv.3	-	4	1217	c.1113G>A	c.(1111-1113)acG>acA	p.T371T	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	371					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TAGGCTTGGACGTCAGGTTTA	0.522000													36	19					0	0	1	0	0
AGMO	392636	broad.mit.edu	37	7	15405139	15405139	+	Splice_Site	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:15405139C>A	uc003stb.1	-	12	1433	c.1263_splice	c.e12+1	p.E421_splice		NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN	Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA.	421					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AATGTCTTACCTCAAAAGCAG	0.408000													30	34					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749656	2749656	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr5:2749656G>C	uc003jda.3	-	1	737	c.495C>G	c.(493-495)ttC>ttG	p.F165L	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Missense_Mutation_p.F165L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	165						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCGCGTTGGCGAACCAGGTGG	0.597000													47	873					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577097	7577097	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr17:7577097C>T	uc002gim.2	-	7	1035	c.841G>A	c.(841-843)Gac>Aac	p.D281N	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149N|TP53_uc010cnf.1_Missense_Mutation_p.D149N|TP53_uc002gii.1_Missense_Mutation_p.D149N|TP53_uc010cni.1_Missense_Mutation_p.D281N|TP53_uc010cnh.1_Missense_Mutation_p.D281N|TP53_uc002gij.2_Missense_Mutation_p.D281N|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281G(10)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.R280_D281delRD(4)|p.D281V(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.D281fs*63(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		GTGCGCCGGTCTCTCCCAGGA	0.547000		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)			18	5					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100485	27100485	+	Silent	SNP	G	G	A	rs115912638	by1000genomes	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr6:27100485G>A	uc003niv.3	-	0	91	c.45C>T	c.(43-45)tcC>tcT	p.S15S	HIST1H2BJ_uc003niu.1_Non-coding_Transcript|HIST1H2AG_uc003niw.3_5'Flank	NM_021058	NP_066402	P06899	H2B1J_HUMAN	Homo sapiens histone cluster 1, H2bj (HIST1H2BJ), mRNA.	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CCGCCTTCTTGGAGCCCTTTT	0.537000													41	160					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10487757	10487757	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr18:10487757G>A	uc002kom.4	+	4	1621	c.1267G>A	c.(1267-1269)Gag>Aag	p.E423K		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	423					Wnt receptor signaling pathway|hair follicle development|negative regulation of Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CACGGAGTACGAGATCTTCAA	0.627000													27	167					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101395550	101395550	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr3:101395550C>T	uc003dve.4	-	0	439	c.209G>A	c.(208-210)cGa>cAa	p.R70Q	ZBTB11_uc003dvf.2_Missense_Mutation_p.R70Q|LOC100009676_uc003dvg.3_Missense_Mutation_p.S21L	NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GTCCCGGCGTCGCTCCGGCTG	0.692000													13	1					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748377	102748377	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:102748377G>T	uc001ksf.2	+	0	1085	c.410G>T	c.(409-411)aGg>aTg	p.R137M	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R137M|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	137					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GATGGGGCCAGGGAGGGGTTT	0.592000													15	256					0	0	1	0	0
TOX	9760	broad.mit.edu	37	8	59728107	59728107	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr8:59728107C>A	uc003xtw.1	-	6	1403	c.1182G>T	c.(1180-1182)agG>agT	p.R394S		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	394						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGGCTATGTTCCTGGGGAGAC	0.567000													25	50					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76587181	76587181	+	Splice_Site	SNP	A	A	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:76587181A>G	uc002fex.1	+	21	3591	c.3452_splice	c.e21-1	p.E1151_splice	CNTNAP4_uc002feu.1_Splice_Site_p.E1147_splice|CNTNAP4_uc002fev.1_Splice_Site_p.E1012_splice|CNTNAP4_uc010chb.1_Splice_Site_p.E1075_splice	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	1148	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						AATTTCTAGAACACAGTGATG	0.478000													6	8					0	0	1	0	0
OR9G9	390174	broad.mit.edu	37	11	56468604	56468604	+	Silent	SNP	C	C	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr11:56468604C>A	uc010rjn.2	+	0	741	c.741C>A	c.(739-741)gtC>gtA	p.V247V	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGACCTCTGTCACTTTATACT	0.453000													37	211					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27503992	27503992	+	Silent	SNP	G	G	A			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr16:27503992G>A	uc002dov.2	-	17	2959	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C	GTF3C1_uc002dou.3_Silent_p.C973C	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	973						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCCCATGTAGCACAGCCTCT	0.512000													83	80					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41072112	41072112	+	Silent	SNP	T	T	C			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr19:41072112T>C	uc002ony.3	+	29	6269	c.6183T>C	c.(6181-6183)gaT>gaC	p.D2061D	SPTBN4_uc002onz.3_Silent_p.D2061D|SPTBN4_uc010egx.3_Silent_p.D804D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2061					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGTGGCTGATGCCTGGCTGA	0.667000													4	4					0	0	1	0	0
KIF14	9928	broad.mit.edu	37	1	200584490	200584491	+	Frame_Shift_Ins	INS	-	-	T			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr1:200584490_200584491insT	uc010ppk.1	-	2	1798_1799	c.1359_1360insA	c.(1357-1362)aaatcafs	p.K453fs	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	453	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TACGTATATGATTTTCCAGAGC	0.381													38	51	---	---	---	---					
TAF1B	9014	broad.mit.edu	37	2	9989571	9989571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:9989571delA	uc002qzz.3	+	2	287	c.187delA	c.(187-189)aaafs	p.K63fs	TAF1B_uc010exc.2_Frame_Shift_Del_p.K63fs|TAF1B_uc002qzy.4_Frame_Shift_Del_p.K63fs|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	63					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCGGGGGCTTAAAAAAAAAAA	0.333													4	7	---	---	---	---					
HAT1	8520	broad.mit.edu	37	2	172822005	172822007	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr2:172822005_172822007delAGG	uc002uhi.3	+	4	532_534	c.456_458delAGG	c.(454-459)acagga>aca	p.G154del	HAT1_uc010fqi.2_5'UTR|HAT1_uc002uhj.3_In_Frame_Del_p.G69del	NM_003642	NP_003633	O14929	HAT1_HUMAN	Homo sapiens histone acetyltransferase 1 (HAT1), transcript variant 1, mRNA.	154					DNA packaging|chromatin silencing at telomere	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TCAGTCCAACAGGAGGAGAAAAC	0.335													8	22	---	---	---	---					
TET2	54790	broad.mit.edu	37	4	106157271	106157271	+	Frame_Shift_Del	DEL	T	T	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr4:106157271delT	uc011cez.2	+	2	2640	c.2235delT	c.(2233-2235)catfs	p.H745fs	TET2_uc003hxk.3_Frame_Shift_Del_p.H724fs|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Frame_Shift_Del_p.H724fs|TET2_uc010ilp.2_Frame_Shift_Del_p.H724fs|TET2_uc021xql.1_Frame_Shift_Del_p.H724fs	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	724	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.H724fs*29(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATAAGCCTCATAAACAGGCAG	0.408			"""Mis N, F"""		MDS								20	22	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135314	27135316	+	In_Frame_Del	DEL	CGA	CGA	-	rs10951154	byFrequency	TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr7:27135314_27135316delCGA	uc003sye.3	-	0	310_312	c.216_218delTCG	c.(214-219)catcgc>cac	p.R73del	HOXA1_uc003syd.3_In_Frame_Del_p.R73del|HOXA1_uc022aao.1_In_Frame_Del_p.R73del|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	73	Poly-His.		H -> R (frequent polymorphism in individuals of European or African origin; dbSNP:rs10951154).			nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						Ctgggggtggcgatggtggtggt	0.650											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	7	167	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr9:117406_117407insG	uc003zfz.3	-	0	1011_1012	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													7	125	---	---	---	---					
SEC23IP	11196	broad.mit.edu	37	10	121668600	121668601	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-N5-A4RN-01A-12D-A28R-08	TCGA-N5-A4RN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16e9dbc9-970e-4862-ae7b-385f9cff0a1e	d81a5759-35b0-4357-9879-2ef15a12f84b	g.chr10:121668600_121668601delAG	uc001leu.2	+	4	1359_1360	c.1149_1150delAG	c.(1147-1152)ttagagfs	p.L383fs	SEC23IP_uc010qtc.2_Frame_Shift_Del_p.L172fs	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	383					Golgi organization|intracellular protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment|endoplasmic reticulum	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACCGAAGATTAGAGTTTCCAAG	0.327													11	50	---	---	---	---					
