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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
RIPK4	54101	broad.mit.edu	37	21	43161570	43161570	+	Missense_Mutation	SNP	C	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr21:43161570C>A	uc002yzn.1	-	7	1831	c.1783G>T	c.(1783-1785)Gtg>Ttg	p.V595L		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	595						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTCACACTCACCCCCGGCTGC	0.682000														57			25		1.5548e-18	2.028e-18	0.005443	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121679512	121679512	+	Missense_Mutation	SNP	A	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:121679512A>T	uc003vjy.3	+	19	5902	c.5507A>T	c.(5506-5508)aAa>aTa	p.K1836I	PTPRZ1_uc011knt.2_Missense_Mutation_p.K976I|PTPRZ1_uc003vjz.3_Missense_Mutation_p.K969I	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1836	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGCAGAGAAAATGTGATCAG	0.423000														25			30		0	0	0.012213	0	0
BC101079	0	broad.mit.edu	37	15	102294715	102294715	+	Silent	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr15:102294715C>T	uc010usj.2	+	4	602	c.543C>T	c.(541-543)gaC>gaT	p.D181D	DQ597539_uc002bxo.3_5'Flank|DQ593864_uc002bxq.2_5'Flank|DQ582666_uc002bxr.3_5'Flank|DQ597539_uc002bxs.3_5'Flank|DQ575740_uc002bxu.1_5'Flank|DQ582460_uc002bxv.1_5'Flank|DQ593630_uc002bxw.1_5'Flank|DQ575740_uc021sxz.1_5'Flank|DQ582460_uc021sya.1_5'Flank|DQ597539_uc021syb.1_5'Flank|DQ582666_uc002bxy.2_5'Flank|DQ575740_uc021syd.1_5'Flank|DQ582460_uc002byb.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank|DQ597703_uc021syi.1_5'Flank|DQ588362_uc002bys.3_5'Flank|DQ588425_uc002byv.3_5'Flank|DQ578285_uc002byx.4_5'Flank|DQ597461_uc021syl.1_5'Flank|DQ586138_uc002bza.3_5'Flank|DQ578289_uc002bzb.3_5'Flank|DQ586526_uc002bzc.1_5'Flank|DQ583497_uc002bze.3_5'Flank|DQ597703_uc002bzg.2_5'Flank|DQ586138_uc002bzi.2_5'Flank|DQ586526_uc002bzl.3_5'Flank|DQ588439_uc002bzm.3_5'Flank|DQ597703_uc002bzo.3_5'Flank|DQ576933_uc002bzp.3_5'Flank|DQ588425_uc002bzq.3_5'Flank|DQ600537_uc002bzr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.																		AGCAGGCAGACCAAGGAGTTC	0.587000														9			3		0	0	0.004672	0	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:58385762C>G	uc002qqo.2	-	2	1268	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(4)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000														7			4		0	0	0.009096	0	0
MLXIP	22877	broad.mit.edu	37	12	122616846	122616846	+	Silent	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr12:122616846C>T	uc001ubq.3	+	7	1116	c.1008C>T	c.(1006-1008)ttC>ttT	p.F336F	MLXIP_uc001ubr.3_Silent_p.F87F|MLXIP_uc001ubs.1_Intron|MLXIP_uc001ubt.3_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	336	Transactivation domain.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		CAGACCTCTTCTCTTCTAGCC	0.552000														8			8		0	0	0.003080	0	0
FAM86HP	729375	broad.mit.edu	37	3	129822591	129822591	+	RNA	SNP	A	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr3:129822591A>G	uc003ene.2	-	0		c.130T>C			FAM86HP_uc011ble.1_Intron					Homo sapiens family with sequence similarity 86, member H, pseudogene (FAM86HP), non-coding RNA.																		TACCTGCTGTAATGACAACAT	0.587000														10			8		0	0	0.004482	0	0
NPTX1	4884	broad.mit.edu	37	17	78444656	78444656	+	Missense_Mutation	SNP	C	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr17:78444656C>A	uc002jyp.1	-	4	1414	c.1256G>T	c.(1255-1257)gGg>gTg	p.G419V		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	419	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	p.G418G(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CTTGGTGGCCCCTCCGTAGAT	0.657000														49			7		2.17888e-05	2.51409e-05	0.006214	1	0
KCNK5	8645	broad.mit.edu	37	6	39159334	39159334	+	Nonsense_Mutation	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:39159334G>A	uc003oon.3	-	4	1196	c.832C>T	c.(832-834)Cag>Tag	p.Q278*		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	278					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						CCCTTCACCTGCAGGGCCTTC	0.547000														97			47		0	0	0.010771	0	0
MTUS2	23281	broad.mit.edu	37	13	29600351	29600351	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr13:29600351G>A	uc001usl.4	+	0	1604	c.1546G>A	c.(1546-1548)Gtt>Att	p.V516I		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	506						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CACCACATCTGTTGCTGAAAA	0.507000														30			22		0	0	0.010504	0	0
NAPB	63908	broad.mit.edu	37	20	23370612	23370612	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr20:23370612A>G	uc002wtb.3	-	6	661	c.544T>C	c.(544-546)Tac>Cac	p.Y182H	NAPB_uc002wta.3_Missense_Mutation_p.Y178H|NAPB_uc002wtc.3_Missense_Mutation_p.Y84H|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zss.1_Missense_Mutation_p.Y65H|NAPB_uc010zst.1_Missense_Mutation_p.Y139H	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.	178					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					GCTTTCTGGTACTGCTCAAGC	0.398000														53			41		0	0	0.014410	0	0
ARAP1	116985	broad.mit.edu	37	11	72406598	72406598	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr11:72406598T>C	uc001osu.3	-	24	3685	c.3496A>G	c.(3496-3498)Agt>Ggt	p.S1166G	ARAP1_uc001osv.3_Missense_Mutation_p.S1166G|ARAP1_uc001osr.3_Missense_Mutation_p.S926G|ARAP1_uc001oss.3_Missense_Mutation_p.S921G|ARAP1_uc009yth.3_Missense_Mutation_p.S860G|ARAP1_uc010rre.2_Missense_Mutation_p.S921G	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1166					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TGGGTCCCACTGGCAGTGCCA	0.647000														18			12		0	0	0.010729	0	0
PIGR	5284	broad.mit.edu	37	1	207105817	207105817	+	Silent	SNP	C	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:207105817C>G	uc001hez.3	-	7	2176	c.1992G>C	c.(1990-1992)cgG>cgC	p.R664R	PIGR_uc009xbz.3_Silent_p.R664R	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	664						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCCTGTGCCGGGCTCTGG	0.647000														56			28		0	0	0.008361	0	0
ZNF45	7596	broad.mit.edu	37	19	44418234	44418234	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:44418234C>T	uc002oxu.2	-	3	1453	c.1354G>A	c.(1354-1356)Ggc>Agc	p.G452S	ZNF45_uc002oxw.2_Missense_Mutation_p.G452S	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	452					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G452A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGCTGAAGCCCTTGCCACAC	0.483000														41			22		0	0	0.012319	0	0
DNASE1L3	1776	broad.mit.edu	37	3	58179114	58179114	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr3:58179114T>C	uc003djo.1	-	6	854	c.757A>G	c.(757-759)Agt>Ggt	p.S253G	DNASE1L3_uc011bfd.1_Missense_Mutation_p.S223G|DNASE1L3_uc003djp.1_Missense_Mutation_p.S253G|DNASE1L3_uc003djq.1_Missense_Mutation_p.S253G	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	253					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCAAAAACACTGTTTGACTTG	0.433000														30			15		0	0	0.006122	0	0
MYOZ3	91977	broad.mit.edu	37	5	150050078	150050078	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr5:150050078G>A	uc003lss.2	+	2	681	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	MYOZ3_uc003lsr.2_Missense_Mutation_p.V32M	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	32						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAGCTGAGCGTGCCCCAGGA	0.612000														7			15		0	0	0.003163	0	0
KIAA0664	23277	broad.mit.edu	37	17	2601830	2601830	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr17:2601830C>T	uc002fuy.1	-	9	1293	c.1207G>A	c.(1207-1209)Ggc>Agc	p.G403S	KIAA0664_uc002fux.1_Missense_Mutation_p.G335S	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	403							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						ATCACGTTGCCGTCAATGACG	0.622000														12			5		0	0	0.000602	0	0
C1orf173	127254	broad.mit.edu	37	1	75114999	75114999	+	Splice_Site	SNP	C	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:75114999C>A	uc001dgg.3	-	2	243	c.24_splice	c.e2-1	p.G8_splice		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	8										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAGCAAGTAACCTAAAATACA	0.353000														43			23		1.22574e-08	1.53217e-08	0.014323	1	0
MORF4L1	10933	broad.mit.edu	37	15	79185887	79185887	+	Missense_Mutation	SNP	T	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr15:79185887T>C	uc002bel.3	+	9	852	c.664T>C	c.(664-666)Tat>Cat	p.Y222H	MORF4L1_uc002bem.3_Missense_Mutation_p.Y183H|MORF4L1_uc010une.2_Missense_Mutation_p.Y95H	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	222	Interaction with RB1-1.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone H2A acetylation|histone H4 acetylation|histone deacetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						ATAGCTCTTTTATCTTCCTGC	0.299000														55			29		0	0	0.009535	0	0
MCF2	4168	broad.mit.edu	37	X	138684576	138684576	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chrX:138684576C>T	uc011mwn.1	-	18	2266	c.2260G>A	c.(2260-2262)Gca>Aca	p.A754T	MCF2_uc004fav.3_Missense_Mutation_p.A625T|MCF2_uc004fau.3_Missense_Mutation_p.A609T|MCF2_uc010nsh.2_Missense_Mutation_p.A609T|MCF2_uc011mwm.2_Missense_Mutation_p.A570T|MCF2_uc011mwl.2_Missense_Mutation_p.A586T|MCF2_uc011mwo.1_Missense_Mutation_p.A685T|MCF2_uc004faw.2_Missense_Mutation_p.A669T	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	609	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGGAAAAATGCGCATTCTGAA	0.294000														122			57		0	0	0.014410	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198365946	198365946	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr2:198365946C>G	uc021vum.1	+	1	592	c.152C>G	c.(151-153)tCg>tGg	p.S51W	HSPD1_uc002uui.3_5'Flank|HSPD1_uc010zgx.2_5'Flank|HSPD1_uc010fsm.3_5'Flank|HSPD1_uc002uuk.3_5'Flank|HSPD1_uc010zgy.1_5'Flank|HSPE1-MOB4_uc002uul.3_Missense_Mutation_p.S51W	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		GCTGTTGGATCGGGTTCTAAA	0.408000														11			9		0	0	0.004482	0	0
AK302306	0	broad.mit.edu	37	15	28600108	28600108	+	Silent	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr15:28600108C>T	uc010uaf.1	-	2	240	c.222G>A	c.(220-222)gaG>gaA	p.E74E	DQ595648_uc021sgj.1_5'Flank					SubName: Full=Uncharacterized protein; SubName: Full=cDNA FLJ59579, weakly similar to Homo sapiens golgi autoantigen, golgin subfamily a-like, mRNA;																		TCACCTCTAGCTCCCTCCTTA	0.512000														32			8		0	0	0.013537	0	0
KRT75	9119	broad.mit.edu	37	12	52827640	52827640	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr12:52827640C>T	uc001saj.2	-	0	471	c.449G>A	c.(448-450)cGc>cAc	p.R150H		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	150	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.R150R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GATCTGCTCGCGCTCCTCGGC	0.562000														77			52		0	0	0.014410	0	0
ZNF700	90592	broad.mit.edu	37	19	12060128	12060128	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:12060128C>T	uc010xme.2	+	4	1534	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	ZNF700_uc002msu.3_Missense_Mutation_p.A430V|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C448Y(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCAGATCTGCCTCACAGCTT	0.473000														36			23		0	0	0.012319	0	0
DNAH11	8701	broad.mit.edu	37	7	21630624	21630624	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:21630624G>A	uc003svc.3	+	12	2289	c.2258G>A	c.(2257-2259)aGg>aAg	p.R753K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	753	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCAAGAAAAGGAACACTATT	0.264000									Kartagener syndrome					2			5		0	0	0.001168	0	0
TXNDC16	57544	broad.mit.edu	37	14	52907333	52907333	+	Missense_Mutation	SNP	G	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr14:52907333G>C	uc001wzs.3	-	18	2401	c.1952C>G	c.(1951-1953)aCa>aGa	p.T651R	TXNDC16_uc010tqu.2_Missense_Mutation_p.T646R|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	651					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					CTTTACCAGTGTCAATATTGC	0.308000														33			3		0	0	0.009096	0	0
SF3B2	10992	broad.mit.edu	37	11	65829382	65829382	+	Silent	SNP	C	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr11:65829382C>A	uc001ogy.1	+	15	1930	c.1890C>A	c.(1888-1890)ccC>ccA	p.P630P		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	630					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						AGGTCCCTCCCCCATGGCTGA	0.562000														17			16		1.67942e-08	2.05643e-08	0.006122	1	0
CAPZA3	93661	broad.mit.edu	37	12	18892035	18892035	+	Missense_Mutation	SNP	T	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr12:18892035T>A	uc001rdy.3	+	0	991	c.833T>A	c.(832-834)cTg>cAg	p.L278Q	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	278					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GACTTGAATCTGGTGATGTAT	0.393000														40			32		0	0	0.010818	0	0
ZNF606	80095	broad.mit.edu	37	19	58490170	58490170	+	Silent	SNP	A	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:58490170A>G	uc002qqw.3	-	6	2496	c.1878T>C	c.(1876-1878)tgT>tgC	p.C626C	ZNF606_uc010yhp.2_Silent_p.C536C	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CACATTTATTACATTCATAGG	0.383000														102			4		0	0	0.009096	0	0
C7orf58	79974	broad.mit.edu	37	7	120629777	120629777	+	Silent	SNP	C	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:120629777C>G	uc003vjq.4	+	1	549	c.102C>G	c.(100-102)acC>acG	p.T34T	C7orf58_uc003vjr.1_Silent_p.T34T|C7orf58_uc003vjs.4_Silent_p.T34T	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	34						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					AGACTCTGACCCTCCGAGGGT	0.587000														47			36		0	0	0.013726	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969527	47969527	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:47969527C>T	uc010ele.3	-	0	150	c.134G>A	c.(133-135)gGg>gAg	p.G45E	SLC8A2_uc002pgx.3_Missense_Mutation_p.G45E|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	45					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCGGTAGGACCCCTGGCAGCC	0.731000														2			6		0	0	0.001984	0	0
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Missense_Mutation	SNP	A	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607000														19			4		0	0	0.009096	0	0
MB21D1	115004	broad.mit.edu	37	6	74135070	74135070	+	Silent	SNP	A	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:74135070A>G	uc003pgx.1	-	4	1588	c.1449T>C	c.(1447-1449)taT>taC	p.Y483Y		NM_138441	NP_612450	Q8N884	M21D1_HUMAN	Homo sapiens Mab-21 domain containing 1 (MB21D1), mRNA.	483										central_nervous_system(1)|large_intestine(4)|lung(1)	6						CAGGAATAAAATAATTCTCAA	0.373000														19			17		0	0	0.004007	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117670	117670	+	RNA	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chrGL000205.1:117670G>A	uc002kgk.4	+	0		c.1048G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		AGTTCAGAGCGTGGAGCAGAT	0.607000														20			3		0	0	0.004672	0	0
SHROOM2	357	broad.mit.edu	37	X	9863548	9863548	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chrX:9863548C>T	uc004csu.1	+	3	1690	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W		NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	534					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGAGACAGGACGGTGTTACCC	0.692000														8			6		0	0	0.001168	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39914552	39914552	+	Missense_Mutation	SNP	C	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr19:39914552C>G	uc010xuz.2	+	18	3104	c.2779C>G	c.(2779-2781)Ctt>Gtt	p.L927V	PLEKHG2_uc010xuy.2_Missense_Mutation_p.L868V|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.L705V	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	927					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.L927I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TAAGCAAGACCTTCCGGGCAT	0.577000														40			29		0	0	0.007291	0	0
NBEA	26960	broad.mit.edu	37	13	35733740	35733740	+	Silent	SNP	A	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr13:35733740A>C	uc021rid.1	+	21	3966	c.3432A>C	c.(3430-3432)acA>acC	p.T1144T	NBEA_uc021ric.1_Silent_p.T1144T|NBEA_uc010abi.3_5'Flank	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1144						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAGTAGTACATCATTTCTCT	0.333000														24			5		0	0	0.000602	0	0
RBBP6	5930	broad.mit.edu	37	16	24582258	24582258	+	Missense_Mutation	SNP	A	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr16:24582258A>C	uc002dmh.3	+	17	4911	c.3871A>C	c.(3871-3873)Act>Cct	p.T1291P	RBBP6_uc002dmi.3_Missense_Mutation_p.T1257P|RBBP6_uc010bxr.3_Missense_Mutation_p.T451P|RBBP6_uc002dmk.3_Missense_Mutation_p.T1124P	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1291					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TACAAAGCGAACTGTGATTAA	0.343000														33			21		0	0	0.003330	0	0
FAIM3	9214	broad.mit.edu	37	1	207085119	207085119	+	Silent	SNP	G	C	C			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:207085119G>C	uc001hey.3	-	3	845	c.666C>G	c.(664-666)ccC>ccG	p.P222P	FAIM3_uc010prz.2_Silent_p.P110P|FAIM3_uc021pif.1_Silent_p.P222P|FAIM3_uc010psa.2_Silent_p.P131P	NM_005449	NP_005440	O60667	FAIM3_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule 3 (FAIM3), transcript variant 1, mRNA.	222					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGGGCGTCTGGGGCTTGAGCA	0.542000											OREG0014185	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		60			20		0	0	0.003330	0	0
HERC3	8916	broad.mit.edu	37	4	89575198	89575198	+	Nonsense_Mutation	SNP	G	T	T	rs35418561		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr4:89575198G>T	uc003hrw.1	+	6	857	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	HERC3_uc003hrv.3_Nonsense_Mutation_p.E231*|HERC3_uc011cdn.1_Nonsense_Mutation_p.E113*	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	231					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity	p.R230*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTAGATCGAGAATCTCCATG	0.368000														10			22		4.4004e-07	5.28048e-07	0.003330	1	0
PLEKHB2	55041	broad.mit.edu	37	2	131897791	131897791	+	Missense_Mutation	SNP	G	C	C	rs143964327		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr2:131897791G>C	uc002tsi.4	+	5	1182	c.598G>C	c.(598-600)Gtt>Ctt	p.V200L	PLEKHB2_uc002tsh.2_Intron|PLEKHB2_uc002tsg.4_Missense_Mutation_p.V159L|PLEKHB2_uc002tsj.4_Missense_Mutation_p.V158L|PLEKHB2_uc002tsf.4_Missense_Mutation_p.V167L|PLEKHB2_uc010zap.2_Intron|PLEKHB2_uc010zaq.2_Missense_Mutation_p.K114N|PLEKHB2_uc010zao.2_Missense_Mutation_p.V109L	NM_001100623	NP_001094093	Q96CS7	PKHB2_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 2 (PLEKHB2), transcript variant 3, mRNA.	159						membrane	protein binding			large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		AGGAACTCAAGTTGTCTACGC	0.512000														24			14		0	0	0.007413	0	0
DCAF6	55827	broad.mit.edu	37	1	167962583	167962583	+	Missense_Mutation	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:167962583G>A	uc001gew.3	+	6	1161	c.808G>A	c.(808-810)Gtt>Att	p.V270I	DCAF6_uc001gex.3_Missense_Mutation_p.V270I|DCAF6_uc010plk.2_Missense_Mutation_p.V239I|DCAF6_uc001gev.3_Missense_Mutation_p.V270I|DCAF6_uc001gey.3_Missense_Mutation_p.V123I	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	270					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGAGATTCTCGTTAGTTACTC	0.408000														41			11		0	0	0.008291	0	0
CCT8L2	150160	broad.mit.edu	37	22	17073382	17073382	+	Missense_Mutation	SNP	C	T	T			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr22:17073382C>T	uc002zlp.1	-	0	319	c.59G>A	c.(58-60)aGg>aAg	p.R20K		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	20					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGGCTCTCCCTTGGGTTCAG	0.657000														5			21		0	0	0.014323	0	0
TTN	7273	broad.mit.edu	37	2	179567316	179567316	+	Nonsense_Mutation	SNP	C	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr2:179567316C>A	uc021vsy.1	-	103	26791	c.26566G>T	c.(26566-26568)Gaa>Taa	p.E8856*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.E5517*|TTN_uc010fre.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9783	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGACACTTCACACTCAAAG	0.438000														41			41		9.62906e-15	1.22924e-14	0.006230	1	0
INTS3	65123	broad.mit.edu	37	1	153736638	153736638	+	Silent	SNP	A	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:153736638A>G	uc009wom.3	+	18	2087	c.1866A>G	c.(1864-1866)ctA>ctG	p.L622L	INTS3_uc001fct.3_Silent_p.L622L|INTS3_uc001fcu.3_Silent_p.L314L|INTS3_uc001fcv.3_Silent_p.L416L|INTS3_uc010peb.2_Silent_p.L416L|INTS3_uc001fcw.3_Silent_p.L135L|INTS3_uc010pec.2_Silent_p.L135L|INTS3_uc001fcx.3_5'Flank|INTS3_uc001fcy.3_5'Flank	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	623					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTTCCTGCCTACAGGAGCTCT	0.572000														49			39		0	0	0.007835	0	0
BC080605	0	broad.mit.edu	37	9	68413570	68413570	+	RNA	SNP	G	A	A			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr9:68413570G>A	uc004aex.3	+	0		c.125G>A								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		CCCCAGTGGCGCCGGATCTAG	0.602000														7			3		0	0	0.009096	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	CTG	CTG	rs35574083		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr1:55505552_55505553insCTG	uc001cyf.2	+	0	404_405	c.42_43insCTG	c.(40-45)insCTG	p.23_24insL	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													---	3	---	---	3	---					
HLA-DPB1	3115	broad.mit.edu	37	6	33048613	33048613	+	Frame_Shift_Del	DEL	A	-	-	rs41550319		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:33048613delA	uc003ocu.2	+	1	381	c.265delA	c.(265-267)aacfs	p.N89fs	HLA-DPA1_uc021ywg.1_5'Flank|HLA-DPA1_uc021ywh.1_5'Flank|HLA-DPB1_uc011dqn.2_Non-coding_Transcript|HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_5'UTR	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	89	Beta-1.		N -> H (in allele DPB1*02:03; dbSNP:rs41550319).		T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						GGAGTACTGGAACAGCCAGAA	0.657													---	44	---	---	12	---					
AIM1	202	broad.mit.edu	37	6	106960616	106960616	+	Frame_Shift_Del	DEL	C	-	-			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr6:106960616delC	uc003prh.3	+	0	1312	c.400delC	c.(400-402)cccfs	p.P134fs		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	134							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GGAGTCCCCACCCAAGAGGGT	0.761													---	6	---	---	3	---					
C7orf59	389541	broad.mit.edu	37	7	99746597	99746598	+	Splice_Site	INS	-	G	G			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr7:99746597_99746598insG	uc003utq.2	+	1	69	c.3_splice	c.e1+1	p.M1_splice		NM_001008395	NP_001008396	Q0VGL1	CG059_HUMAN	Homo sapiens chromosome 7 open reading frame 59 (C7orf59), mRNA.	1										large_intestine(1)	1						AAGACTGCGATGGTGAGTGAGG	0.658													---	61	---	---	23	---					
SLC35G5	83650	broad.mit.edu	37	8	11189695	11189696	+	Splice_Site	INS	-	A	A	rs78909439		TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr8:11189695_11189696insA	uc003wtp.1	+	1	1201	c.1080_splice	c.e1+1			NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	Homo sapiens solute carrier family 35, member G5 (SLC35G5), mRNA.							integral to membrane											agactgaagacaaaaaaaaaat	0.371													---	11	---	---	6	---					
FLYWCH2	114984	broad.mit.edu	37	16	2946454	2946456	+	In_Frame_Del	DEL	CCC	-	-			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chr16:2946454_2946456delCCC	uc002csa.3	+	2	375_377	c.4_6delCCC	c.(4-6)cccdel	p.P2del	FLYWCH2_uc010uwj.2_In_Frame_Del_p.P2del|FLYWCH2_uc010uwk.2_In_Frame_Del_p.P2del	NM_138439	NP_612448	Q96CP2	FWCH2_HUMAN	Homo sapiens FLYWCH family member 2 (FLYWCH2), transcript variant 1, mRNA.	2										central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						TCCCGGGATGCCCCTGCCCGAGC	0.670													---	18	---	---	11	---					
TRPC5	7224	broad.mit.edu	37	X	111090414	111090416	+	In_Frame_Del	DEL	TCA	-	-			TCGA-G7-7501-01A-11D-2201-08	TCGA-G7-7501-10A-01D-2201-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37a54336-f21c-4e13-b4bb-c370f1e563c9	6bab150d-1510-4c7a-bb5d-ff665290e36a	g.chrX:111090414_111090416delTCA	uc004epl.1	-	5	2545_2547	c.1626_1628delTGA	c.(1624-1629)tatgaa>taa	p.542_543YE>*	TRPC5_uc004epm.1_In_Frame_Del_p.542_543YE>*	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	542					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGCTCTGGTTTCATAATAGAAGT	0.433													---	78	---	---	72	---					
