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
GRM3	2913	broad.mit.edu	37	7	86468876	86468876	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:86468876C>T	uc003uid.3	+	3	3145	c.2046C>T	c.(2044-2046)ttC>ttT	p.F682F	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.F554F|GRM3_uc010leh.3_Silent_p.F274F	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	682					synaptic transmission	integral to plasma membrane		p.F682L(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGCCAAAATTCATCAGCCCCA	0.542000														51			21		0	0	0.00121646	0	0
PEG3	5178	broad.mit.edu	37	19	57335908	57335908	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:57335908G>A	uc002qnu.2	-	0	467	c.116C>T	c.(115-117)cCa>cTa	p.P39L	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.P39L|PEG3_uc002qnv.2_Missense_Mutation_p.P39L|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.P39L	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	39					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGTCAGTTGGACCTTCTCC	0.483000														56			27		0	0	0.000720815	0	0
NFATC3	4775	broad.mit.edu	37	16	68156318	68156318	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:68156318G>A	uc002evo.2	+	1	848	c.532G>A	c.(532-534)Gat>Aat	p.D178N	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.D178N|NFATC3_uc002evm.2_Missense_Mutation_p.D178N|NFATC3_uc002evn.2_Missense_Mutation_p.D178N|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	178					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TTGGTTCTCTGATGCATCTTC	0.463000														36			34		0	0	0.00283554	0	0
SLC15A2	6565	broad.mit.edu	37	3	121641931	121641931	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:121641931C>T	uc003eep.2	+	9	1065	c.912C>T	c.(910-912)ttC>ttT	p.F304F	SLC15A2_uc011bjn.1_Silent_p.F273F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	304					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGGTACTATTCCTTTATATCC	0.453000														135			57		0	0	0.000781405	0	0
GRM3	2913	broad.mit.edu	37	7	86415877	86415877	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:86415877G>A	uc003uid.3	+	2	1868	c.769G>A	c.(769-771)Gac>Aac	p.D257N	GRM3_uc010lef.3_Missense_Mutation_p.D255N|GRM3_uc010leg.3_Missense_Mutation_p.D129N|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	257					synaptic transmission	integral to plasma membrane		p.D257H(2)|p.Y256Y(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGTCCTACGACAGCGTGAT	0.647000														44			23		0	0	0.00278032	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671262	131671262	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:131671262C>T	uc004bwl.4	+	2	2073	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	LRRC8A_uc010myp.3_Missense_Mutation_p.P607S|LRRC8A_uc010myq.3_Missense_Mutation_p.P607S	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	607					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GGAGCGCATCCCCCACTCCAT	0.557000														48			12		0	0	0.00136819	0	0
GPR113	165082	broad.mit.edu	37	2	26533850	26533850	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:26533850C>T	uc002rhe.4	-	10	2746	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	GPR113_uc010yky.1_Missense_Mutation_p.E847K|GPR113_uc002rhb.1_Missense_Mutation_p.E519K|GPR113_uc010eyk.1_Missense_Mutation_p.E717K|GPR113_uc002rhc.1_Missense_Mutation_p.E519K|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	916					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGCATTCCCCCTCCCTC	0.612000														8			4		0	0	0.00198382	0	0
DDX24	57062	broad.mit.edu	37	14	94521401	94521401	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:94521401T>A	uc001ycj.3	-	6	2218	c.2119A>T	c.(2119-2121)Aag>Tag	p.K707*	DDX24_uc010twq.2_Nonsense_Mutation_p.K664*|DDX24_uc010twr.2_Nonsense_Mutation_p.K457*	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	707	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TCATCTTTCTTGAGCGTTTTG	0.458000														127			60		0	0	0.000781405	0	0
GTF2H1	2965	broad.mit.edu	37	11	18357426	18357426	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:18357426G>A	uc001moi.2	+	3	974	c.280G>A	c.(280-282)Gac>Aac	p.D94N	GTF2H1_uc001moh.2_Missense_Mutation_p.D94N|GTF2H1_uc009yhm.2_Intron	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	94					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGCAGTAAAAGACCTTCTTCA	0.428000								Nucleotide excision repair (NER)						43			23		0	0	0.000586117	0	0
EXOSC2	23404	broad.mit.edu	37	9	133578458	133578458	+	Nonsense_Mutation	SNP	C	T	T	rs149299789	by1000genomes	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:133578458C>T	uc004bzu.2	+	7	712	c.691C>T	c.(691-693)Cga>Tga	p.R231*	EXOSC2_uc011mbz.1_Nonsense_Mutation_p.R205*|EXOSC2_uc011mca.1_Non-coding_Transcript	NM_014285	NP_055100	Q13868	EXOS2_HUMAN	Homo sapiens exosome component 2 (EXOSC2), mRNA.	231					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		TCTTGCTGATCGAGAGGTGAT	0.468000														114			21		0	0	0.00278032	0	0
PXDNL	137902	broad.mit.edu	37	8	52359701	52359701	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:52359701C>T	uc003xqu.4	-	11	1489	c.1388G>A	c.(1387-1389)gGc>gAc	p.G463D		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	463	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTATGCTGGCCTTCCACAGG	0.522000														72			34		0	0	0.0024448	0	0
AEN	64782	broad.mit.edu	37	15	89172573	89172573	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:89172573C>G	uc002bmt.2	+	2	808	c.657C>G	c.(655-657)aaC>aaG	p.N219K	AEN_uc010bnm.1_Missense_Mutation_p.N219K	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	219	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						ATGTCCCAAACTTCCTCAGCG	0.642000														32			56		0	0	0.000781405	0	0
FAM217B	63939	broad.mit.edu	37	20	58519738	58519738	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:58519738C>T	uc021wft.1	+	0	740	c.740C>T	c.(739-741)tCc>tTc	p.S247F	FAM217B_uc002yba.3_Missense_Mutation_p.S247F|FAM217B_uc002ybc.3_Missense_Mutation_p.S247F|FAM217B_uc010zzx.2_Missense_Mutation_p.S90F	NM_001190827	NP_001177756	Q9NTX9	CT177_HUMAN	Homo sapiens chromosome 20 open reading frame 177 (C20orf177), transcript variant 3, mRNA.	247																	TCAGGCCCTTCCCGAAAGAAA	0.493000														84			37		0	0	0.000953801	0	0
OR9G9	390174	broad.mit.edu	37	11	56468245	56468245	+	Missense_Mutation	SNP	C	T	T	rs139404745		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:56468245C>T	uc010rjn.2	+	0	382	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CATCTCCAAGCCCCTGCTTTA	0.517000														119			14		0	0	0.000566183	0	0
SYCP1	6847	broad.mit.edu	37	1	115454127	115454127	+	Silent	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:115454127T>C	uc001efr.3	+	17	1662	c.1453T>C	c.(1453-1455)Tta>Cta	p.L485L	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.L485L|SYCP1_uc009wgw.3_Silent_p.L485L	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	485				IQLTAITTSEQYYSKEVKDLKTELENEK -> YSYCHYHKW TVLPKRGQRPKLSSKRE (in Ref. 2; BAA22586).	cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAAATACAGTTAACTGCCAT	0.294000														35			10		0	0	0.00136819	0	0
BC080605	0	broad.mit.edu	37	9	68414259	68414259	+	RNA	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:68414259C>T	uc004aex.3	+	0		c.814C>T								Homo sapiens mRNA; cDNA DKFZp564N0763 (from clone DKFZp564N0763).																		ccacagtggcctcaaagaact	0.483000														1			3		0	0	6.4e-05	0	0
C1orf186	440712	broad.mit.edu	37	1	206239499	206239499	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:206239499C>T	uc001hdt.1	-	5	1038	c.399G>A	c.(397-399)gaG>gaA	p.E133E		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	133						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CCTTTATGTTCTCATAGTCCA	0.448000														33			10		0	0	0.000673444	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040531	147040531	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:147040531C>T	uc010jgo.1	-	1	755	c.607G>A	c.(607-609)Gag>Aag	p.E203K	JAKMIP2_uc003loq.1_Missense_Mutation_p.E203K|JAKMIP2_uc011dbx.1_Missense_Mutation_p.E161K|JAKMIP2_uc003lor.1_Missense_Mutation_p.E203K|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	203						Golgi apparatus		p.S202S(1)|p.E203D(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATATCCCGCTCCGACTCCCAC	0.502000														50			31		0	0	0.0024448	0	0
PCDH15	65217	broad.mit.edu	37	10	55826552	55826552	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:55826552C>T	uc010qhy.1	-	18	2595	c.2200G>A	c.(2200-2202)Gaa>Aaa	p.E734K	PCDH15_uc010qhq.2_Missense_Mutation_p.E734K|PCDH15_uc010qhr.2_Missense_Mutation_p.E729K|PCDH15_uc021pqv.1_Missense_Mutation_p.E729K|PCDH15_uc021pqw.1_Missense_Mutation_p.E741K|PCDH15_uc010qht.2_Missense_Mutation_p.E736K|PCDH15_uc021pqx.1_Missense_Mutation_p.E729K|PCDH15_uc001jjv.1_Missense_Mutation_p.E707K|PCDH15_uc021pqy.1_Missense_Mutation_p.E729K|PCDH15_uc021pqz.1_Missense_Mutation_p.E707K|PCDH15_uc010qhv.1_Missense_Mutation_p.E729K|PCDH15_uc010qhw.1_Missense_Mutation_p.E692K|PCDH15_uc010qhx.1_Missense_Mutation_p.E658K|PCDH15_uc010qhz.1_Missense_Mutation_p.E729K|PCDH15_uc010qia.1_Missense_Mutation_p.E707K|PCDH15_uc001jju.1_Missense_Mutation_p.E729K|PCDH15_uc010qib.1_Missense_Mutation_p.E707K|PCDH15_uc001jjw.3_Missense_Mutation_p.E729K	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	729	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTTCTTCTTCCACCACAGAT	0.348000										HNSCC(58;0.16)				22			26		0	0	0.000586117	0	0
SETD2	29072	broad.mit.edu	37	3	47162509	47162509	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:47162509G>A	uc003cqv.3	-	2	3670	c.3584C>T	c.(3583-3585)tCt>tTt	p.S1195F	SETD2_uc003cqs.3_Missense_Mutation_p.S1206F	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAAATCAGAAGAATAAATTGG	0.418000			"""N, F, S, Mis"""		clear cell renal carcinoma									45			36		0	0	0.00058488	0	0
METTL19	152992	broad.mit.edu	37	4	8467171	8467171	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:8467171C>T	uc003glg.2	+	7	1395	c.1377C>T	c.(1375-1377)tcC>tcT	p.S459S	METTL19_uc003glf.1_Silent_p.S218S|METTL19_uc003glh.1_Silent_p.S67S	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	459					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						GAAGATACTCCCGGAGGCAGA	0.488000														31			33		0	0	0.00209593	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					44			48		0	0	0.000781405	0	0
HUWE1	10075	broad.mit.edu	37	X	53654416	53654416	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:53654416C>T	uc004dsp.3	-	16	1836	c.1434G>A	c.(1432-1434)aaG>aaA	p.K478K		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	478					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GTCTCTGGATCTTTGGCTTGA	0.323000														102			46		0	0	0.000781405	0	0
MACROD2	140733	broad.mit.edu	37	20	15412057	15412057	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:15412057C>T	uc002wou.3	+	6	812	c.548C>T	c.(547-549)cCc>cTc	p.P183L	MACROD2_uc002wot.3_Missense_Mutation_p.P183L|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	183	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAGGCATTTCCCTGCATCTCA	0.313000														74			22		0	0	0.00127121	0	0
NBPF14	25832	broad.mit.edu	37	1	148342006	148342007	+	Splice_Site	DNP	CC	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:148342006_148342007CC>AA	uc001eqf.3	-	5	602	c.567_splice	c.e5-1	p.R189_splice	NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Splice_Site|NBPF14_uc001erc.4_Splice_Site|NBPF14_uc001erd.4_Splice_Site_p.R189_splice|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_Splice_Site|NBPF14_uc010pav.2_Splice_Site_p.R189_splice|NBPF14_uc010paw.2_Splice_Site_p.R114_splice	NM_017940	NP_060410	Q5TI25	NBPFE_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	120	NBPF 2.					cytoplasm		p.?(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCTGCACCTCCCTGATGAGCCA	0.525000														605			11		0	0	6.4e-05	0	0
RBM28	55131	broad.mit.edu	37	7	127961330	127961330	+	Missense_Mutation	SNP	G	A	A	rs138112810	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:127961330G>A	uc003vmp.2	-	13	1667	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	RBM28_uc011koj.1_Missense_Mutation_p.R377C	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	518	RRM 4.				RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						TCCTTGATGCGCACCCCTTTC	0.522000														82			102		0	0	0.000781405	0	0
PRSS37	136242	broad.mit.edu	37	7	141536257	141536257	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:141536257C>T	uc003vws.2	-	4	1018	c.646G>A	c.(646-648)Ggc>Agc	p.G216S	PRSS37_uc011krl.2_Missense_Mutation_p.G215S|PRSS37_uc011krk.2_Missense_Mutation_p.G203S|PRSS37_uc003vwt.2_Missense_Mutation_p.G203S	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	216	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGTAGATGCCGACGTCCCCT	0.522000														111			32		0	0	0.00058488	0	0
SETX	23064	broad.mit.edu	37	9	135203263	135203263	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:135203263G>T	uc004cbk.3	-	9	3905	c.3722C>A	c.(3721-3723)aCc>aAc	p.T1241N	SETX_uc004cbj.3_Missense_Mutation_p.T860N|SETX_uc010mzt.3_Missense_Mutation_p.T860N	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1241					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTTCTTAGGGGTCTTAGAAAC	0.393000														98			40		1.49673e-21	7.09251e-21	0.00128727	1	0
C12orf51	283450	broad.mit.edu	37	12	112654721	112654721	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:112654721G>A	uc021reb.1	-	46	7235	c.6839C>T	c.(6838-6840)cCg>cTg	p.P2280L	C12orf51_uc001ttr.1_Missense_Mutation_p.P167L	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						GTAAAAAGACGGGGCCTGAAG	0.473000														76			32		0	0	0.000953801	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														18			9		0	0	0.000673444	0	0
TCRA	0	broad.mit.edu	37	14	22294006	22294006	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:22294006G>A	uc001wbw.2	+	1	119	c.110G>A	c.(109-111)gGa>gAa	p.G37E	TRA_uc021rpa.1_Intron|TCRA_uc010ais.1_Non-coding_Transcript					SubName: Full=Alpha-chain C region; Flags: Fragment;																		ATCCTGGAGGGAAAGAACTGC	0.463000														36			20		0	0	0.000958276	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		95			49		0	0	0.000680045	0	0
ADCY2	108	broad.mit.edu	37	5	7414758	7414758	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:7414758C>T	uc003jdz.1	+	1	350	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	95					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GATATTTATCCTGGTCTGCAT	0.433000														119			19		0	0	0.000958276	0	0
NFASC	23114	broad.mit.edu	37	1	204946814	204946814	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:204946814C>T	uc010prc.2	+	15	2067	c.538C>T	c.(538-540)Cag>Tag	p.Q180*	NFASC_uc001hbj.3_Nonsense_Mutation_p.Q613*|NFASC_uc010pra.2_Intron|NFASC_uc001hbi.3_Intron|NFASC_uc010prb.2_Nonsense_Mutation_p.Q624*|NFASC_uc001hbk.1_Intron			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	613	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGCAGCTGATCAGGCCACTCC	0.537000														24			10		0	0	0.000978159	0	0
DHX9	1660	broad.mit.edu	37	1	182845266	182845266	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:182845266C>T	uc001gpr.3	+	16	2072	c.1897C>T	c.(1897-1899)Cct>Tct	p.P633S	DHX9_uc001gps.3_Missense_Mutation_p.P419S	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	633					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAAGGAAACTCCTTTTGAACT	0.398000														68			34		0	0	0.0024448	0	0
HYAL4	23553	broad.mit.edu	37	7	123508936	123508936	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:123508936C>T	uc003vlc.3	+	2	1247	c.609C>T	c.(607-609)atC>atT	p.I203I	HYAL4_uc011knz.2_Silent_p.I203I	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	203					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGGAAACCATCAAATTGGGAA	0.378000														61			54		0	0	0.000781405	0	0
RNF17	56163	broad.mit.edu	37	13	25367326	25367326	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:25367326C>T	uc001upr.3	+	9	1123	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	RNF17_uc010tdd.1_Missense_Mutation_p.P220L|RNF17_uc010tde.2_Missense_Mutation_p.P361L|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P300L|RNF17_uc001upq.1_Missense_Mutation_p.P361L	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	361				P -> S (in Ref. 1; AAK31981).	multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCACCACCTCCTTTGCAACCT	0.408000														150			67		0	0	0.000781405	0	0
SIVA1	10572	broad.mit.edu	37	14	105222123	105222123	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:105222123G>A	uc001yph.3	+	1	344	c.275G>A	c.(274-276)gGc>gAc	p.G92D	SIVA1_uc010tyj.1_Missense_Mutation_p.G92D|SIVA1_uc001ypg.1_Missense_Mutation_p.G92D|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank	NM_006427	NP_006418	O15304	SIVA_HUMAN	Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA.	92					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis	cytoplasm|mitochondrion|nucleoplasm|nucleus	CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GGACCAGACGGCCGCCTGATC	0.652000														16			15		0	0	0.000422831	0	0
UPF3B	65109	broad.mit.edu	37	X	118979221	118979221	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:118979221G>C	uc004erz.2	-	3	509	c.409C>G	c.(409-411)Caa>Gaa	p.Q137E	UPF3B_uc004esa.2_Missense_Mutation_p.Q137E	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	137	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						GCAGCTTTTTGAAAAGGTGCA	0.348000														81			41		0	0	0.00222228	0	0
HDX	139324	broad.mit.edu	37	X	83599324	83599324	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:83599324C>T	uc011mqv.2	-	6	1841	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	HDX_uc004eel.2_Missense_Mutation_p.E474K|HDX_uc004eek.2_Missense_Mutation_p.E532K	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	532						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTCCTACTTCAGGCCCAGCT	0.453000														25			9		0	0	0.000978159	0	0
SF3A1	10291	broad.mit.edu	37	22	30735185	30735185	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:30735185G>A	uc003ahl.3	-	9	1563	c.1431C>T	c.(1429-1431)ttC>ttT	p.F477F	SF3A1_uc021wnt.1_Silent_p.F412F	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	477					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCTCTACACCGAAGATGTCAG	0.488000														105			49		0	0	0.000781405	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125877271	125877271	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:125877271G>A	uc003eim.1	-	2	529	c.339C>T	c.(337-339)caC>caT	p.H113H	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Silent_p.H113H|ALDH1L1_uc003eio.3_5'Flank|ALDH1L1_uc010hsf.1_Silent_p.H139H|ALDH1L1_uc003eip.1_Silent_p.H22H|ALDH1L1_uc011bkj.1_Intron	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	113	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	AGGCCCCTCGGTGCCTAGGGA	0.572000														10			3		0	0	6.4e-05	0	0
ZNF154	7710	broad.mit.edu	37	19	58213359	58213359	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:58213359G>A	uc010euf.3	-	2	1198	c.958C>T	c.(958-960)Cat>Tat	p.H320Y	ZNF551_uc002qpx.3_Intron|ZNF154_uc002qpy.2_Non-coding_Transcript	NM_001085384	NP_001078853	Q13106	ZN154_HUMAN	Homo sapiens zinc finger protein 154 (ZNF154), mRNA.	320						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAACCCTATGGTGTTCAATG	0.473000														52			23		0	0	0.00188189	0	0
C1orf94	84970	broad.mit.edu	37	1	34663240	34663240	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:34663240G>A	uc001bxt.3	+	1	1573	c.735G>A	c.(733-735)ctG>ctA	p.L245L	C1orf94_uc001bxs.4_Silent_p.L55L	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	55							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTTCCCACTGAAGTCCACTG	0.562000														34			26		0	0	0.00127121	0	0
LAMA2	3908	broad.mit.edu	37	6	129759851	129759851	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:129759851G>A	uc021zfb.1	+	41	6134	c.6029G>A	c.(6028-6030)gGg>gAg	p.G2010E	LAMA2_uc003qbn.3_Missense_Mutation_p.G2010E|LAMA2_uc003qbo.3_Missense_Mutation_p.G2010E|U6_uc021zfc.1_5'Flank	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2010	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTAGAAATGGGGATCTCTTG	0.348000														49			26		0	0	0.001512	0	0
RYR1	6261	broad.mit.edu	37	19	38956933	38956933	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:38956933C>T	uc002oit.3	+	23	3203	c.3073C>T	c.(3073-3075)Ctg>Ttg	p.L1025L	RYR1_uc002oiu.3_Silent_p.L1025L	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1025	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCCTACCGCCTGCTGGATGA	0.682000														5			5		0	0	0.000602214	0	0
FOXP1	27086	broad.mit.edu	37	3	71247393	71247393	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:71247393C>T	uc003dol.3	-	1	463	c.140G>A	c.(139-141)gGg>gAg	p.G47E	FOXP1_uc003dom.3_Missense_Mutation_p.G47E|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.G47E|FOXP1_uc003doo.3_Missense_Mutation_p.G47E|FOXP1_uc003dop.3_Missense_Mutation_p.G47E|FOXP1_uc021xao.1_Missense_Mutation_p.G47E|FOXP1_uc003doq.1_Missense_Mutation_p.G47E|FOXP1_uc003dos.3_Missense_Mutation_p.G47E	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	47					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|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|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTCAGCTGCCCCGATGTCCAC	0.627000			T	PAX5	ALL									177			42		0	0	0.00170553	0	0
SVOPL	136306	broad.mit.edu	37	7	138305866	138305866	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:138305866C>T	uc011kqh.2	-	12	1278	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	SVOPL_uc003vue.3_Silent_p.T274T	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AAGCGCGCATCGTGGTGGGGT	0.602000														15			13		0	0	0.00244969	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106064139	106064139	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:106064139G>A	uc004emo.3	+	2	439	c.274G>A	c.(274-276)Gat>Aat	p.D92N	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.D92N|TBC1D8B_uc004emn.3_Missense_Mutation_p.D92N	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	92						intracellular	Rab GTPase activator activity|calcium ion binding	p.D92Y(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAGCATTGGGATTGGTTGGA	0.308000														65			21		0	0	0.00229938	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1816261	1816261	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:1816261C>T	uc010uvl.2	+	21	2790	c.2670C>T	c.(2668-2670)tcC>tcT	p.S890S	MAPK8IP3_uc002cmk.3_Silent_p.S889S|MAPK8IP3_uc002cml.3_Silent_p.S879S|MAPK8IP3_uc021tah.1_Silent_p.S883S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	889					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCAACCCGTCCCAGTCCACAG	0.657000														23			20		0	0	0.00121646	0	0
TTN	7273	broad.mit.edu	37	2	179437859	179437859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179437859C>T	uc021vsy.1	-	274	65521	c.65296G>A	c.(65296-65298)Gat>Aat	p.D21766N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D15461N|TTN_uc021vta.1_Missense_Mutation_p.D15394N|TTN_uc021vtb.1_Missense_Mutation_p.D15269N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22693	Ig-like 114.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D15461H(1)|p.D21766H(1)|p.D15394H(1)|p.D15269H(1)|p.D21764H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTGTATCCAGAACACGT	0.448000														40			13		0	0	0.00185496	0	0
PRKDC	5591	broad.mit.edu	37	8	48855781	48855781	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:48855781G>A	uc003xqi.3	-	9	1011	c.954C>T	c.(952-954)tcC>tcT	p.S318S	PRKDC_uc003xqj.3_Silent_p.S318S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	318					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTCAGAAAGGATTCCAGGG	0.368000								Non-homologous end-joining						24			10		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179438868	179438868	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179438868G>A	uc021vsy.1	-	274	64512	c.64287C>T	c.(64285-64287)ttC>ttT	p.F21429F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.F15124F|TTN_uc021vta.1_Silent_p.F15057F|TTN_uc021vtb.1_Silent_p.F14932F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22356	Fibronectin type-III 55.						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)			CGATCACACGGAATTCATATG	0.473000														63			20		0	0	0.00188189	0	0
KIAA2018	205717	broad.mit.edu	37	3	113377038	113377038	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:113377038G>A	uc003eam.3	-	6	3902	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L	KIAA2018_uc003eal.3_Missense_Mutation_p.P1108L	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1164					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TGCTTCAGAAGGCTTTGAAGC	0.453000														56			25		0	0	0.000586117	0	0
NCR1	9437	broad.mit.edu	37	19	55420724	55420724	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:55420724G>A	uc002qib.2	+	3	514	c.476G>A	c.(475-477)gGa>gAa	p.G159E	NCR1_uc002qic.2_Missense_Mutation_p.G159E|NCR1_uc002qie.2_Missense_Mutation_p.G159E|NCR1_uc002qid.2_Missense_Mutation_p.G64E|NCR1_uc002qif.2_Missense_Mutation_p.G64E|NCR1_uc010esj.2_Missense_Mutation_p.G52E	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	159	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	SWI/SNF complex|integral to plasma membrane	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CTCAAGGAGGGAAGATCCAGC	0.582000														43			26		0	0	0.000586117	0	0
GXYLT1	283464	broad.mit.edu	37	12	42499824	42499824	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:42499824G>A	uc001rms.4	-	4	885	c.660C>T	c.(658-660)atC>atT	p.I220I	GXYLT1_uc001rmt.4_Silent_p.I189I	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	220					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						GTAAAAAAAGGATATCAGTGT	0.323000														55			21		0	0	0.00229938	0	0
RXFP2	122042	broad.mit.edu	37	13	32367120	32367120	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:32367120G>A	uc001utt.3	+	15	1752	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	RXFP2_uc010aba.3_Missense_Mutation_p.D537N	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	561						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTGGAATAAGGATTATTTTGG	0.368000														48			14		0	0	0.00185496	0	0
GPR112	139378	broad.mit.edu	37	X	135431704	135431704	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:135431704C>T	uc004ezu.1	+	5	6130	c.5839C>T	c.(5839-5841)Cct>Tct	p.P1947S	GPR112_uc010nsb.1_Missense_Mutation_p.P1742S|GPR112_uc010nsc.1_Missense_Mutation_p.P1714S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1947					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGGAATTCTTCCTAACCATGG	0.423000														82			25		0	0	0.000720815	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468443	35468444	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:35468443_35468444CC>AA	uc021wir.1	+	0	946_947	c.946_947CC>AA	c.(946-948)cca>AAa	p.P316K	SLC5A3_uc002yto.3_Missense_Mutation_p.P316K|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	316						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CATAGTTGTCCCAGGAATGATT	0.465000														536			10		0	0	6.4e-05	0	0
TPTE	7179	broad.mit.edu	37	21	10934106	10934106	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:10934106C>T	uc002yip.1	-	15	1239	c.871G>A	c.(871-873)Gat>Aat	p.D291N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.D273N|TPTE_uc002yir.1_Missense_Mutation_p.D253N|TPTE_uc010gkv.1_Missense_Mutation_p.D153N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	291	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D291Y(2)|p.D273Y(2)|p.V291I(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTTAGGATCGTAAGCTCTT	0.308000														221			24		0	0	0.000586117	0	0
NWD1	284434	broad.mit.edu	37	19	16908678	16908678	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:16908678C>T	uc002neu.4	+	15	3862	c.3440C>T	c.(3439-3441)tCc>tTc	p.S1147F	NWD1_uc002net.4_Missense_Mutation_p.S1012F|NWD1_uc002nev.4_Missense_Mutation_p.S941F|NWD1_uc021uqg.1_Missense_Mutation_p.S1012F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1147							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATCACGGGGTCCCTTGATGCG	0.522000														89			85		0	0	0.000781405	0	0
OPRL1	4987	broad.mit.edu	37	20	62730145	62730145	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:62730145C>T	uc002yic.3	+	4	1525	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L	OPRL1_uc002yid.3_Missense_Mutation_p.P369L|OPRL1_uc021wgs.1_Missense_Mutation_p.P369L|OPRL1_uc002yif.4_Missense_Mutation_p.P364L	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	369					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTACCGCGGCCCGCATGACTA	0.662000														21			9		0	0	0.000978159	0	0
RYR2	6262	broad.mit.edu	37	1	237838033	237838033	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:237838033G>A	uc001hyl.1	+	59	8837	c.8717G>A	c.(8716-8718)gGa>gAa	p.G2906E	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2906	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2904V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTTCCAGAGGATTTAAGGAC	0.373000														20			13		0	0	0.000308642	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														30			5		0	0	0.00198382	0	0
ANKRD35	148741	broad.mit.edu	37	1	145561156	145561157	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:145561156_145561157GA>AT	uc001eob.1	+	9	952_953	c.844_845GA>AT	c.(844-846)gaa>ATa	p.E282I	ANKRD35_uc010oyx.1_Missense_Mutation_p.E125I	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	282										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGCAGAGCCTGAAGAGGAGCAA	0.550000														36			13		0	0	6.4e-05	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	118335	118335	+	RNA	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrGL000205.1:118335G>A	uc002kgk.4	+	0		c.1713G>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		GTGGCTCCAGGAGGACTTCTG	0.542000														27			5		0	0	0.000602214	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713056	32713056	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:32713056T>C	uc003obx.3	+	1	261	c.203T>C	c.(202-204)gTc>gCc	p.V68A		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	68	Alpha-1.				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 plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAGAGACTGTCTGGCAGTTG	0.468000														65			25		0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179452496	179452496	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179452496C>T	uc021vsy.1	-	254	56061	c.55836G>A	c.(55834-55836)atG>atA	p.M18612I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M12307I|TTN_uc021vta.1_Missense_Mutation_p.M12240I|TTN_uc021vtb.1_Missense_Mutation_p.M12115I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19539	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L18612L(1)|p.E18611*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTTTCCTCATGCTGGCAT	0.428000														24			14		0	0	0.000566183	0	0
C12orf51	283450	broad.mit.edu	37	12	112691863	112691863	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:112691863G>A	uc021reb.1	-	21	3395	c.2999C>T	c.(2998-3000)cCg>cTg	p.P1000L	C12orf51_uc010syk.1_Missense_Mutation_p.P544L|C12orf51_uc001tts.2_Missense_Mutation_p.P535L|C12orf51_uc001ttt.3_Missense_Mutation_p.P533L	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CAAGTCTTTCGGCCAACCAGT	0.458000														77			37		0	0	0.00148497	0	0
CECR6	27439	broad.mit.edu	37	22	17600384	17600384	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:17600384G>A	uc002zmb.2	-	0	1830	c.1634C>T	c.(1633-1635)cCg>cTg	p.P545L	CECR6_uc002zma.2_Missense_Mutation_p.P190L|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	545	Poly-Pro.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		AGGTGGTGGCGGAGGTGGTGG	0.697000														8			4		0	0	0.00024832	0	0
FAM47B	170062	broad.mit.edu	37	X	34961617	34961617	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:34961617C>T	uc004ddi.2	+	0	705	c.669C>T	c.(667-669)ctC>ctT	p.L223L		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	223	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCAGTCTCCGCCCAGAGC	0.657000														40			21		0	0	0.00047179	0	0
SAMSN1	64092	broad.mit.edu	37	21	15884881	15884881	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:15884881C>T	uc002yju.1	-	3	375	c.293G>A	c.(292-294)gGa>gAa	p.G98E	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.G166E	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	98					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GGCATTCTCTCCATCTTCCTC	0.428000														74			32		0	0	0.00283554	0	0
FAM71A	149647	broad.mit.edu	37	1	212799719	212799719	+	RNA	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:212799719G>A	uc010pth.1	-	0		c.395C>T			FAM71A_uc001hjk.3_Silent_p.K500K			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCATCTCAAAGGAGTCCAGGA	0.557000														66			37		0	0	0.00222228	0	0
CXCR2	3579	broad.mit.edu	37	2	219000488	219000488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:219000488C>T	uc002vgz.2	+	3	1174	c.964C>T	c.(964-966)Cgc>Tgc	p.R322C	CXCR2_uc002vha.2_Missense_Mutation_p.R322C|CXCR2_uc002vhb.2_Missense_Mutation_p.R322C|CXCR2_uc021vwp.1_Missense_Mutation_p.R322C	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	322					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CCAGAAGTTTCGCCATGGACT	0.547000														74			43		0	0	0.000781405	0	0
LGR5	8549	broad.mit.edu	37	12	71966646	71966646	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:71966646G>A	uc001swl.3	+	12	1201	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	LGR5_uc001swm.3_Missense_Mutation_p.E361K|LGR5_uc021rar.1_Missense_Mutation_p.E313K|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	385						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAGACATAATGAAATCTACGA	0.413000														244			113		0	0	0.000781405	0	0
UBLCP1	134510	broad.mit.edu	37	5	158697388	158697388	+	Silent	SNP	C	T	T	rs145226059		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:158697388C>T	uc003lxq.2	+	3	593	c.267C>T	c.(265-267)ccC>ccT	p.P89P		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	89						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGGTCCACCCCCTGACAATG	0.313000														42			25		0	0	0.00127121	0	0
OR4K17	390436	broad.mit.edu	37	14	20585753	20585753	+	Missense_Mutation	SNP	C	T	T	rs150087607		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:20585753C>T	uc001vwo.1	+	0	188	c.188C>T	c.(187-189)tCg>tTg	p.S63L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCCCTCTTCTCGGTTATCTAT	0.408000														187			62		0	0	0.000781405	0	0
SYNRG	11276	broad.mit.edu	37	17	35880722	35880722	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:35880722G>A	uc002hoa.3	-	19	3779	c.3696C>T	c.(3694-3696)tcC>tcT	p.S1232S	SYNRG_uc010wde.2_Silent_p.S1177S|SYNRG_uc010wdf.2_Silent_p.S1154S|SYNRG_uc002hoc.3_Silent_p.S1153S|SYNRG_uc002hoe.3_Silent_p.S1154S|SYNRG_uc002hod.3_Silent_p.S1109S|SYNRG_uc010wdg.2_Silent_p.S1026S|SYNRG_uc002hob.3_Silent_p.S1232S	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	1232					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTAACATACAGGAGGAAAAAT	0.512000														31			28		0	0	0.00283554	0	0
SCML2	10389	broad.mit.edu	37	X	18264805	18264805	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:18264805C>T	uc004cyl.2	-	12	1871	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.D572N|SCML2_uc011miz.1_Missense_Mutation_p.D506N|SCML2_uc010nfc.2_Missense_Mutation_p.D308N	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	572					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CGAGAAAAATCCTGGGAGACT	0.413000														91			39		0	0	0.00148497	0	0
CHGB	1114	broad.mit.edu	37	20	5903238	5903238	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:5903238G>A	uc002wmg.3	+	3	754	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	150						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAAGTCTCTGAAGAAGTGAA	0.572000														18			7		0	0	0.00198382	0	0
GON4L	54856	broad.mit.edu	37	1	155823261	155823261	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:155823261G>A	uc001flz.2	-	1	408	c.311C>T	c.(310-312)aCc>aTc	p.T104I	GON4L_uc001fly.1_Missense_Mutation_p.T104I|GON4L_uc009wrh.1_Missense_Mutation_p.T104I|GON4L_uc001fma.1_Missense_Mutation_p.T104I|GON4L_uc001fmc.3_Missense_Mutation_p.T104I|GON4L_uc001fmd.4_Missense_Mutation_p.T104I|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	104					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAAGGTAGGGTGATTCCCTG	0.453000														87			51		0	0	0.000781405	0	0
OR9A4	130075	broad.mit.edu	37	7	141619380	141619380	+	Silent	SNP	G	A	A	rs143629932		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:141619380G>A	uc003vwu.1	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235R(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTGGCCGGAGGAAATCCTTCT	0.502000														127			28		0	0	0.00106085	0	0
MAT2B	27430	broad.mit.edu	37	5	162944660	162944660	+	Missense_Mutation	SNP	C	T	T	rs77428501		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:162944660C>T	uc003lzk.3	+	5	922	c.814C>T	c.(814-816)Ccc>Tcc	p.P272S	MAT2B_uc003lzj.3_Missense_Mutation_p.P261S|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.3_Missense_Mutation_p.P12S	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	272					S-adenosylmethionine biosynthetic process|extracellular polysaccharide biosynthetic process|methylation|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding			endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CTTCAACCTCCCCAGCAGTCA	0.403000														11			14		0	0	0.000422831	0	0
COL11A1	1301	broad.mit.edu	37	1	103471820	103471820	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:103471820T>A	uc001dum.3	-	15	2089	c.1771A>T	c.(1771-1773)Agg>Tgg	p.R591W	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.R579W|COL11A1_uc001dun.3_Missense_Mutation_p.R540W|COL11A1_uc009weh.3_Missense_Mutation_p.R463W	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	579	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGCCATACCCTTTTTCCAGGT	0.353000														81			54		0	0	0.000781405	0	0
SPAST	6683	broad.mit.edu	37	2	32352039	32352039	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:32352039C>T	uc002roc.3	+	7	1342	c.1121C>T	c.(1120-1122)cCt>cTt	p.P374L	SPAST_uc002rod.3_Missense_Mutation_p.P342L	NM_014946	NP_055761	Q9UBP0	SPAST_HUMAN	Homo sapiens spastin (SPAST), transcript variant 1, mRNA.	374	Sufficient for microtubule severing.				ER to Golgi vesicle-mediated transport|cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization	endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle	ATP binding|alpha-tubulin binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CTTAGAGCTCCTGCCAGAGGG	0.383000														40			12		0	0	0.00185496	0	0
OR10A6	390093	broad.mit.edu	37	11	7949581	7949581	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:7949581G>A	uc010rbh.2	-	0	629	c.629C>T	c.(628-630)cCt>cTt	p.P210L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAACAAGAAAGGAACCAAAAT	0.423000														13			12		0	0	0.000978159	0	0
CES1	1066	broad.mit.edu	37	16	55855423	55855423	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:55855423C>T	uc002eim.3	-	4	655	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	CES1_uc002eil.3_Missense_Mutation_p.E184K|CES1_uc002ein.3_Missense_Mutation_p.E183K	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	183					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CGGCTGTGTTCATCCCCTGTG	0.602000														14			16		0	0	0.00074312	0	0
MS4A8B	83661	broad.mit.edu	37	11	60470919	60470919	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:60470919G>A	uc001npv.3	+	2	491	c.288G>A	c.(286-288)ggG>ggA	p.G96G	MS4A8B_uc009yne.1_Silent_p.G96G	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	96						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTCTCGTAGGGGAATACCTGT	0.552000														109			15		0	0	0.00074312	0	0
ENGASE	64772	broad.mit.edu	37	17	77082173	77082173	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:77082173C>T	uc002jwv.3	+	13	1982	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V	ENGASE_uc002jww.3_Silent_p.V363V	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	658						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTCACAAGTCCGTTGCTTCC	0.637000														34			25		0	0	0.000720815	0	0
SLC9A2	6549	broad.mit.edu	37	2	103274316	103274316	+	Missense_Mutation	SNP	G	A	A	rs61743555	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:103274316G>A	uc002tca.3	+	1	725	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	195						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTGCCAGATCGAAGCATTCGG	0.478000														157			71		0	0	0.000781405	0	0
RTN1	6252	broad.mit.edu	37	14	60194368	60194368	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:60194368G>A	uc001xen.1	-	2	1243	c.1034C>T	c.(1033-1035)tCc>tTc	p.S345F	RTN1_uc001xem.1_5'UTR	NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	345					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTTCCCCTGGGATTCTGCAGC	0.562000														16			10		0	0	0.000978159	0	0
H6PD	9563	broad.mit.edu	37	1	9322191	9322191	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:9322191C>T	uc001apt.3	+	3	1092	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	273	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AGGTCCTCACCCTCGTGGCCA	0.642000														30			16		0	0	0.00074312	0	0
C1orf168	199920	broad.mit.edu	37	1	57204318	57204318	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:57204318G>A	uc001cym.4	-	13	2118	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Intron	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	571										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CAGCAAAATGGAAAATGCACT	0.378000														62			31		0	0	0.00128727	0	0
STAB1	23166	broad.mit.edu	37	3	52554934	52554934	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:52554934G>A	uc003dej.3	+	54	5895	c.5821G>A	c.(5821-5823)Ggc>Agc	p.G1941S	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1941					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TAGGCCCCAAGGCCTGGGCAG	0.632000														26			38		0	0	0.000692331	0	0
ROS1	6098	broad.mit.edu	37	6	117724339	117724339	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:117724339G>A	uc003pxp.1	-	5	739	c.540C>T	c.(538-540)tcC>tcT	p.S180S	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	180	Fibronectin type-III 1.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GACTTGGAGGGGAGTAGAGCT	0.478000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									65			28		0	0	0.001512	0	0
OR1L8	138881	broad.mit.edu	37	9	125330013	125330013	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:125330013C>T	uc004bmp.1	-	0	744	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAGCGTCACCACGGTGAGGT	0.453000														18			23		0	0	0.00188189	0	0
LILRB3	11025	broad.mit.edu	37	19	54724986	54724986	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:54724986G>A	uc010erh.1	-	4	1048	c.924C>T	c.(922-924)gcC>gcT	p.A308A	LILRB3_uc002qee.1_Silent_p.A308A|LILRB3_uc002qef.1_Silent_p.A308A|LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Silent_p.A308A|LILRB3_uc002qeh.1_Silent_p.A308A|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.A308A|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Silent_p.A308A|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	308	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCGCTGGGGGCCGACCACT	0.682000														12			17		0	0	0.00152264	0	0
TULP1	7287	broad.mit.edu	37	6	35478645	35478645	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:35478645G>A	uc003okv.4	-	4	504	c.492C>T	c.(490-492)ggC>ggT	p.G164G	TULP1_uc003okw.4_Silent_p.G111G|TULP1_uc021yyx.1_Silent_p.G164G|TULP1_uc021yyy.1_Silent_p.G164G	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	164					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CACCCCTTGGGCCCTGGGCCT	0.592000														65			34		0	0	0.0025221	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:14880876C>T	uc003ssz.3	-	0	200	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_uc011jxt.2_Missense_Mutation_p.E5K|DGKB_uc003sta.3_Missense_Mutation_p.E5K|DGKB_uc011jxu.2_Missense_Mutation_p.E5K|DGKB_uc011jxv.1_Missense_Mutation_p.E5K	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	5					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000														21			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9019292	9019292	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:9019292G>A	uc002mkp.3	-	22	37799	c.37595C>T	c.(37594-37596)tCc>tTc	p.S12532F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12534					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						GCTTGGGAGGGAGAATGGAGT	0.458000														19			12		0	0	0.00136819	0	0
MUC17	140453	broad.mit.edu	37	7	100686452	100686452	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100686452C>T	uc003uxp.1	+	2	11808	c.11755C>T	c.(11755-11757)Cct>Tct	p.P3919S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3919						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCCACAATTCCTGTAGCCAC	0.493000														111			55		0	0	0.000781405	0	0
OR4C3	256144	broad.mit.edu	37	11	48346900	48346900	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:48346900G>A	uc010rhv.2	+	0	408	c.408G>A	c.(406-408)gaG>gaA	p.E136E		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GAGGTGTTGAGATCATTCTGC	0.483000														191			51		0	0	0.000781405	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144679930	144679930	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:144679930C>T	uc001elo.3	-	4	916	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc009wig.1_Intron|NBPF10_uc001eli.3_Intron|NBPF10_uc009wii.1_Intron|PDE4DIP_uc001elk.2_Missense_Mutation_p.E61K|PDE4DIP_uc001ell.2_Missense_Mutation_p.E64K|PDE4DIP_uc001elm.4_Missense_Mutation_p.E29K|PDE4DIP_uc001eln.4_Missense_Mutation_p.E127K|PDE4DIP_uc021oue.1_Non-coding_Transcript	NM_022359	NP_071754	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 3, mRNA.	61					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGAGTTCTCGTTTCAAG	0.418000			T	PDGFRB	MPD									55			6		0	0	0.000274275	0	0
POTEE	445582	broad.mit.edu	37	2	132021568	132021568	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:132021568G>A	uc002tsn.2	+	14	2592	c.2540G>A	c.(2539-2541)cGt>cAt	p.R847H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R447H|POTEE_uc002tsl.2_Missense_Mutation_p.R429H|POTEE_uc010fmy.1_Missense_Mutation_p.R311H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	847	Actin-like.						ATP binding										ACCTCTGGCCGTACTACTGGC	0.607000														142			21		0	0	0.00278032	0	0
HECW2	57520	broad.mit.edu	37	2	197090520	197090520	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:197090520G>A	uc002utm.1	-	22	4175	c.3992C>T	c.(3991-3993)cCc>cTc	p.P1331L	HECW2_uc002utl.1_Missense_Mutation_p.P975L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1331	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTTATAAAAGGGCCGTGTGAA	0.373000														53			13		0	0	0.000566183	0	0
ASZ1	136991	broad.mit.edu	37	7	117062383	117062383	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:117062383C>T	uc003vjb.2	-	2	299	c.236G>A	c.(235-237)gGa>gAa	p.G79E	ASZ1_uc011kno.1_Missense_Mutation_p.G79E|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	79					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GGGAGTCCATCCATACTGAAA	0.413000														37			30		0	0	0.001512	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627368	43627368	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:43627368A>G	uc011lrb.2	-	3	1348	c.1319T>C	c.(1318-1320)tTa>tCa	p.L440S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	440						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AGGAGACTGTAAAGTATAAGA	0.502000														151			92		0	0	0.000781405	0	0
MFSD5	84975	broad.mit.edu	37	12	53646733	53646733	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:53646733C>T	uc001sch.2	+	1	582	c.435C>T	c.(433-435)ttC>ttT	p.F145F	MFSD5_uc001sci.2_Silent_p.F38F|MFSD5_uc021qye.1_Silent_p.F38F	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	38					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						ATCCCTCCTTCCTTCGGTTTC	0.557000														91			66		0	0	0.000781405	0	0
OR1L8	138881	broad.mit.edu	37	9	125329868	125329868	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:125329868G>A	uc004bmp.1	-	0	889	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCCTGTTTCAGGTCTTTGTTT	0.458000														52			39		0	0	0.00170553	0	0
ZAN	7455	broad.mit.edu	37	7	100386959	100386959	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100386959G>A	uc003uwj.3	+	39	7509	c.7344G>A	c.(7342-7344)agG>agA	p.R2448R	ZAN_uc003uwk.3_Silent_p.R2448R|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.R499R	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2449	VWFD 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGGTGGAAGGAAAAATGCAG	0.537000														79			28		0	0	0.00209593	0	0
CP	1356	broad.mit.edu	37	3	148928058	148928058	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:148928058C>G	uc003ewy.4	-	2	756	c.503G>C	c.(502-504)gGg>gCg	p.G168A	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_5'Flank|CP_uc003ewz.3_Missense_Mutation_p.G168A|CP_uc010hvf.1_5'Flank	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	168	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G168V(2)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATCTCCTTCCCCAGGACTTTG	0.413000														89			23		0	0	0.00188189	0	0
FOLH1	2346	broad.mit.edu	37	11	49179583	49179583	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:49179583C>T	uc001ngy.3	-	13	1714	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	FOLH1_uc009yly.3_Missense_Mutation_p.D470N|FOLH1_uc009ylz.3_Missense_Mutation_p.D470N|FOLH1_uc001ngz.3_Missense_Mutation_p.D485N|FOLH1_uc009yma.3_Missense_Mutation_p.D177N	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	485	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	AAGCCTTCATCAGGGCTTTTC	0.343000														56			6		0	0	0.000157383	0	0
FOLH1B	219595	broad.mit.edu	37	11	89420549	89420549	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:89420549C>T	uc001pda.3	+	8	1077	c.551C>T	c.(550-552)tCt>tTt	p.S184F		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	184					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAAGGCAAATCTCTTTATGAA	0.348000														32			25		0	0	0.00127121	0	0
CCDC144A	9720	broad.mit.edu	37	17	16705752	16705752	+	RNA	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:16705752C>T	uc010cpj.1	+	20		c.5069C>T			USP32P1_uc010cpk.1_Non-coding_Transcript|USP32P1_uc002gqm.2_Non-coding_Transcript			A2RUR9	C144A_HUMAN	Homo sapiens ubiquitin specific peptidase 32 pseudogene 1 (USP32P1), non-coding RNA.																		AGCAAAGCTACCACTCTGGCT	0.433000														38			9		0	0	0.000673444	0	0
SIX3	6496	broad.mit.edu	37	2	45171798	45171798	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:45171798G>A	uc002run.2	+	1	1105	c.898G>A	c.(898-900)Gcg>Acg	p.A300T		NM_005413	NP_005404	O95343	SIX3_HUMAN	Homo sapiens SIX homeobox 3 (SIX3), mRNA.	300					visual perception	nucleus				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1)	11		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCCGTCCACGGCGGCCAGCCC	0.701000														2			3		0	0	6.4e-05	0	0
TPTE2	93492	broad.mit.edu	37	13	20004653	20004653	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:20004653C>T	uc001umd.3	-	17	1468	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.M308I|TPTE2_uc001ume.3_Missense_Mutation_p.M342I|TPTE2_uc009zzm.3_Missense_Mutation_p.M90I|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.M90I	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	419	C2 tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E419*(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTTTTCTCCATTACTACTT	0.328000														30			14		0	0	0.00074312	0	0
VEGFC	7424	broad.mit.edu	37	4	177650814	177650814	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:177650814C>T	uc003ius.1	-	1	664	c.234G>A	c.(232-234)tgG>tgA	p.W78*		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	78					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TGTACATTTTCCAATATTCTG	0.433000														10			11		0	0	0.000978159	0	0
PKD1L2	114780	broad.mit.edu	37	16	81175102	81175102	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:81175102C>T	uc002fgh.1	-	30	5217	c.5217G>A	c.(5215-5217)gcG>gcA	p.A1739A	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1739			A -> V (in dbSNP:rs35941327).		neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACTCCGTGCCGCCTTGGGCT	0.577000														8			6		0	0	0.00198382	0	0
CLCN5	1184	broad.mit.edu	37	X	49855487	49855487	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:49855487C>T	uc004dos.1	+	10	2342	c.2094C>T	c.(2092-2094)atC>atT	p.I698I	CLCN5_uc004dor.1_Silent_p.I768I|CLCN5_uc004doq.1_Silent_p.I768I|CLCN5_uc004dot.1_Silent_p.I698I	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	698	CBS 2.				excretion	Golgi membrane|apical part of cell|endosome membrane|integral to plasma membrane	ATP binding|antiporter activity	p.I698I(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CCATGGAGATCGTAGTGGATA	0.488000														45			21		0	0	0.00229938	0	0
MLN	4295	broad.mit.edu	37	6	33768863	33768863	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33768863G>A	uc003off.1	-	1	149	c.78C>T	c.(76-78)ttC>ttT	p.F26F	MLN_uc003ofg.1_Silent_p.F26F|MLN_uc011drn.1_Silent_p.F26F	NM_002418	NP_002409	P12872	MOTI_HUMAN	Homo sapiens motilin (MLN), transcript variant 1, mRNA.	26					G-protein coupled receptor protein signaling pathway|cell-cell signaling	extracellular region|soluble fraction	hormone activity	p.F26F(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						AGATGGGGACGAAGGCTTCCG	0.582000														104			45		0	0	0.000781405	0	0
SULT1C2	6819	broad.mit.edu	37	2	108917356	108917356	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:108917356C>T	uc002tdy.3	+	3	793	c.340C>T	c.(340-342)Ctg>Ttg	p.L114L	SULT1C2_uc010ywp.1_Splice_Site_p.L29_splice|SULT1C2_uc010ywq.2_Silent_p.L128L|SULT1C2_uc002tdx.3_Splice_Site_p.L125_splice	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	114					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTCCACTCAGCTGCTGCCACC	0.478000														98			44		0	0	0.000781405	0	0
DNAH5	1767	broad.mit.edu	37	5	13753548	13753548	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:13753548G>A	uc003jfd.2	-	62	10708	c.10666C>T	c.(10666-10668)Cca>Tca	p.P3556S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3556					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTCCAAATGGAATTTTCCGG	0.403000									Kartagener syndrome					111			29		0	0	0.00127121	0	0
GRIA4	2893	broad.mit.edu	37	11	105842717	105842717	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:105842717G>A	uc001pix.2	+	14	2817	c.2371G>A	c.(2371-2373)Gat>Aat	p.D791N	GRIA4_uc001piw.2_Intron|GRIA4_uc010rvm.1_Non-coding_Transcript|GRIA4_uc009yxl.1_Intron	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	791					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATGGTGGTACGATAAAGGTGA	0.463000														11			16		0	0	0.00074312	0	0
CNGA3	1261	broad.mit.edu	37	2	99012839	99012839	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:99012839G>A	uc010fij.3	+	7	1359	c.1218G>A	c.(1216-1218)atG>atA	p.M406I	CNGA3_uc002syt.3_Missense_Mutation_p.M402I|CNGA3_uc002syu.3_Missense_Mutation_p.M384I			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	402			M -> T (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGGCTCCATGATCTCGAATA	0.517000														54			30		0	0	0.00178596	0	0
C6orf170	221322	broad.mit.edu	37	6	121625524	121625524	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:121625524G>A	uc003pyo.1	-	7	990	c.922C>T	c.(922-924)Cgt>Tgt	p.R308C	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	308					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		TCTGGATGACGAATCCAGAAA	0.398000														47			18		0	0	0.00121646	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835246	12835246	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:12835246G>A	uc001aui.3	+	0	263	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGATCTTTCGAGCTGTGCTG	0.582000														68			30		0	0	0.00209593	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73490959	73490959	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:73490959C>T	uc001xnm.3	-	1	979	c.258G>A	c.(256-258)caG>caA	p.Q86Q	ZFYVE1_uc010arj.3_Silent_p.Q86Q	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN	Homo sapiens zinc finger, FYVE domain containing 1 (ZFYVE1), transcript variant 1, mRNA.	86						Golgi stack|endoplasmic reticulum|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CTATTGCCCTCTGCCTAACAC	0.517000														144			81		0	0	0.000781405	0	0
AKAP7	9465	broad.mit.edu	37	6	131520696	131520696	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:131520696C>T	uc003qck.3	+	5	763	c.619C>T	c.(619-621)Ccg>Tcg	p.P207S		NM_016377	NP_057461	O43687	AKA7A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 7 (AKAP7), transcript variant gamma, mRNA.	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GTCAAAATCACCGTGGCTCCG	0.448000											OREG0017662	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		23			7		0	0	0.00198382	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50660294	50660294	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:50660294G>A	uc003bkb.1	-	15	3006	c.2494C>T	c.(2494-2496)Ccg>Tcg	p.P832S	TUBGCP6_uc003bka.1_5'UTR|TUBGCP6_uc010har.1_Missense_Mutation_p.P824S|TUBGCP6_uc010has.1_Non-coding_Transcript|TUBGCP6_uc010hat.1_Missense_Mutation_p.P28S	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	832					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAGGGCCCGGAGACGTGACC	0.622000														27			7		0	0	0.000157383	0	0
MPP2	4355	broad.mit.edu	37	17	41958487	41958487	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:41958487C>T	uc010win.1	-	7	1145	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	MPP2_uc002ien.1_Missense_Mutation_p.R337Q|MPP2_uc010wim.1_Missense_Mutation_p.R309Q|MPP2_uc002ieo.1_Missense_Mutation_p.R320Q|MPP2_uc010wio.1_Missense_Mutation_p.R309Q|MPP2_uc010wip.1_Missense_Mutation_p.R365Q			Q14168	MPP2_HUMAN	Homo sapiens membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) (MPP2), mRNA.	344					signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		ATACATCATTCGCTTCTTTTT	0.557000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		67			62		0	0	0.000781405	0	0
KLHL6	89857	broad.mit.edu	37	3	183209742	183209742	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:183209742C>T	uc003flr.3	-	6	1897	c.1839G>A	c.(1837-1839)agG>agA	p.R613R	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_Non-coding_Transcript	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	613										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CGGGCACGATCCTGCGGATGT	0.672000														42			25		0	0	0.000720815	0	0
LOC494141	494141	broad.mit.edu	37	11	18231859	18231859	+	RNA	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:18231859G>A	uc009yhh.3	+	1		c.883G>A			LOC494141_uc001mnx.4_Non-coding_Transcript|LOC494141_uc009yhi.2_Non-coding_Transcript					Homo sapiens mitochondrial carrier triple repeat 1 pseudogene (LOC494141), transcript variant 1, non-coding RNA.																		ATTCTCATTTGGTCAATGATT	0.423000														11			10		0	0	0.000978159	0	0
MYO18B	84700	broad.mit.edu	37	22	26165193	26165193	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:26165193G>A	uc003abz.1	+	3	1560	c.1310G>A	c.(1309-1311)tGg>tAg	p.W437*	MYO18B_uc003aca.1_Nonsense_Mutation_p.W318*|MYO18B_uc010guy.1_Nonsense_Mutation_p.W318*|MYO18B_uc010guz.1_Nonsense_Mutation_p.W318*|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	437						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AAGGGAGGCTGGCCAGGAAGC	0.632000														12			4		0	0	0.000602214	0	0
MST1P9	11223	broad.mit.edu	37	1	17083808	17083808	+	Silent	SNP	G	A	A	rs140260478		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:17083808G>A	uc010ock.2	-	14	1989	c.1989C>T	c.(1987-1989)tgC>tgT	p.C663C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Silent_p.C263C					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCGACCTTGTGCATACTCGGT	0.562000														39			4		0	0	0.00198382	0	0
PURG	29942	broad.mit.edu	37	8	30889984	30889984	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:30889984C>T	uc003xin.3	-	0	334	c.315G>A	c.(313-315)ctG>ctA	p.L105L	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Silent_p.L105L	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	105						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGGAGAGGGTCAGTTTACTCT	0.567000														60			28		0	0	0.000878237	0	0
abParts	0	broad.mit.edu	37	14	106641711	106641711	+	RNA	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:106641711C>T	uc021ser.1	-	1493		c.29674G>A								Parts of antibodies, mostly variable regions.																		GCTGATCCATCCCATCCACTC	0.542000														153			68		0	0	0.000781405	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576309	158576309	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:158576309C>T	uc010pio.2	+	0	81	c.81C>T	c.(79-81)ctC>ctT	p.L27L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTCCTTCTCTTTGCCTTGT	0.507000														73			31		0	0	0.00127121	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283959	151283959	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:151283959G>A	uc004ffj.3	-	2	226	c.54C>T	c.(52-54)acC>acT	p.T18T	MAGEA5_uc022cgy.1_Silent_p.T18T	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	18	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTTCTTGGGTGTCAAGGC	0.632000														85			43		0	0	0.000781405	0	0
C6orf118	168090	broad.mit.edu	37	6	165715235	165715235	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:165715235G>A	uc003qum.4	-	1	612	c.576C>T	c.(574-576)tcC>tcT	p.S192S	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	192										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TGGTGCCTCTGGACCCGGCCT	0.642000														38			23		0	0	0.00229938	0	0
TCRVA15	0	broad.mit.edu	37	14	22217758	22217758	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:22217758G>A	uc010aiq.1	+	1	188	c.109G>A	c.(109-111)Gac>Aac	p.D37N	TRA_uc021rpa.1_Intron|TCRVA15_uc010aip.1_Missense_Mutation_p.D33N					Homo sapiens mRNA for T cell receptor alpha variable 5, partial cds, clone: SEB 96.																		CCGAGAGGGAGACAGCTCCGT	0.473000														18			14		0	0	0.00244969	0	0
KLHL20	27252	broad.mit.edu	37	1	173725152	173725152	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:173725152C>T	uc001gjc.3	+	5	1121	c.942C>T	c.(940-942)atC>atT	p.I314I	KLHL20_uc010pmr.2_Silent_p.I125I|KLHL20_uc009wwf.3_Silent_p.I296I	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	314					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAAACCTATCCGATGTGGGG	0.418000														41			14		0	0	0.00244969	0	0
USP25	29761	broad.mit.edu	37	21	17163931	17163931	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:17163931C>T	uc011aby.1	+	4	720	c.503C>T	c.(502-504)cCc>cTc	p.P168L	USP25_uc002yjz.1_Missense_Mutation_p.P168L|USP25_uc010gla.1_Missense_Mutation_p.P168L|USP25_uc002yjy.1_Missense_Mutation_p.P168L	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	168					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GACAAAGCTCCCGTTGGGCTA	0.393000														43			27		0	0	0.000878237	0	0
CDHR3	222256	broad.mit.edu	37	7	105656440	105656440	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:105656440C>T	uc003vdl.4	+	10	1503	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	CDHR3_uc003vdk.3_Silent_p.S113S|CDHR3_uc003vdm.4_Silent_p.S452S|CDHR3_uc011klt.2_Silent_p.S377S|CDHR3_uc003vdn.3_Silent_p.S182S	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	465	Cadherin 4.|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						ATAGGCCATCCTATGTATTTG	0.393000														16			12		0	0	0.00185496	0	0
CFHR5	81494	broad.mit.edu	37	1	196964856	196964856	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:196964856G>A	uc001gts.4	+	4	745	c.617G>A	c.(616-618)cGa>cAa	p.R206Q		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	206	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GGACAAGTACGATCATGTGGT	0.323000														71			35		0	0	0.00128727	0	0
PRRC2C	23215	broad.mit.edu	37	1	171509511	171509511	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:171509511C>T	uc010pmg.2	+	15	3166	c.2900C>T	c.(2899-2901)cCa>cTa	p.P967L	PRRC2C_uc010pmh.2_5'UTR	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN	Homo sapiens proline-rich coiled-coil 2C (PRRC2C), mRNA.	967							protein C-terminus binding										GAGGAGAAACCAAAAAAGGAA	0.418000														21			5		0	0	0.00116845	0	0
AGAP1	116987	broad.mit.edu	37	2	236708045	236708045	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:236708045C>T	uc002vvs.3	+	7	1434	c.836C>T	c.(835-837)tCc>tTc	p.S279F	AGAP1_uc002vvt.3_Missense_Mutation_p.S279F|AGAP1_uc021vyp.1_Missense_Mutation_p.S279F	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	279					protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AGCGACTATTCCTCCTCCGTT	0.507000														44			13		0	0	0.00136819	0	0
UVSSA	57654	broad.mit.edu	37	4	1347001	1347001	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:1347001C>T	uc003gde.4	+	4	1181	c.734C>T	c.(733-735)cCc>cTc	p.P245L		NM_020894	NP_065945	Q2YD98	K1530_HUMAN	Homo sapiens KIAA1530 (KIAA1530), mRNA.	245																	ACCCCTGACCCCCGGGACGGG	0.711000														9			9		0	0	0.000442599	0	0
COL5A1	1289	broad.mit.edu	37	9	137734038	137734038	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:137734038C>T	uc004cfe.3	+	65	5788	c.5406C>T	c.(5404-5406)atC>atT	p.I1802I	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1802	Fibrillar collagen NC1.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTCTGGAGATCGACACCCCCA	0.532000														43			9		0	0	0.000274275	0	0
OR1F1	4992	broad.mit.edu	37	16	3254567	3254567	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:3254567C>T	uc010uwu.2	+	0	321	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						TTTTCATGTTCGTGGACATGG	0.502000														66			59		0	0	0.000781405	0	0
ADCK1	57143	broad.mit.edu	37	14	78325425	78325425	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:78325425C>T	uc001xui.3	+	3	325	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Intron|ADCK1_uc001xuk.1_5'UTR	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	83						extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GCAGGTGCACCTTCGCTCTGC	0.597000														90			31		0	0	0.00058488	0	0
CDH18	1016	broad.mit.edu	37	5	19503127	19503127	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:19503127G>A	uc003jgd.3	-	10	2138	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L	CDH18_uc011cnm.2_Missense_Mutation_p.P535L|CDH18_uc003jgc.3_Missense_Mutation_p.P535L|CDH18_uc021xwu.1_Missense_Mutation_p.P535L	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	535	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P535L(3)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGTGAAGTTTGGATTTACAGG	0.348000														43			22		0	0	0.00188189	0	0
KIAA1109	84162	broad.mit.edu	37	4	123161105	123161105	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:123161105C>A	uc003ieh.3	+	26	4313	c.4268C>A	c.(4267-4269)aCc>aAc	p.T1423N	KIAA1109_uc003iei.1_Missense_Mutation_p.T1176N|KIAA1109_uc010ins.1_Missense_Mutation_p.T766N|KIAA1109_uc003iek.2_Missense_Mutation_p.T42N	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1423					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AAAAAGCAAACCCAGCAGATT	0.453000														19			15		0.000422831	0.00197802	0.000422831	1	0
TACC1	6867	broad.mit.edu	37	8	38677043	38677043	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:38677043C>T	uc010lwp.3	+	2	660	c.281C>T	c.(280-282)tCa>tTa	p.S94L	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.S49L|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Missense_Mutation_p.S110L|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.S94L|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	94					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			ATTTTAGAATCACAAGAAGCT	0.348000														20			9		0	0	0.000274275	0	0
ALCAM	214	broad.mit.edu	37	3	105266104	105266104	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:105266104G>A	uc003dvx.3	+	9	1912	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	ALCAM_uc003dvw.2_Missense_Mutation_p.E406K|ALCAM_uc003dvy.3_Missense_Mutation_p.E406K|ALCAM_uc010hpp.3_Missense_Mutation_p.E128K|ALCAM_uc003dvz.3_Missense_Mutation_p.E40K	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	406	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.E406fs*19(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAAGAAAAGAGAGTCATTGAC	0.378000														24			22		0	0	0.00188189	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621901	99621901	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:99621901C>T	uc003usk.1	+	2	770	c.551C>T	c.(550-552)tCt>tTt	p.S184F	ZKSCAN1_uc003usj.3_Missense_Mutation_p.S183F|ZKSCAN1_uc003usl.1_Missense_Mutation_p.S148F|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	184					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AAACATTCGTCTCGGAAACCC	0.532000														30			24		0	0	0.000586117	0	0
CRNN	49860	broad.mit.edu	37	1	152383020	152383020	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:152383020T>C	uc001ezx.2	-	2	612	c.538A>G	c.(538-540)Agc>Ggc	p.S180G		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	180	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTGCGGGCTTATTCTTTCC	0.572000														167			101		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196801382	196801382	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:196801382G>A	uc002utj.4	-	19	3314	c.3213C>T	c.(3211-3213)ttC>ttT	p.F1071F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1071	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ACAAAAAAAAGAATCTGGGGA	0.328000														64			29		0	0	0.00178596	0	0
FBLN1	2192	broad.mit.edu	37	22	45970515	45970515	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:45970515G>A	uc003bgj.1	+	14	1969	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K		NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	608					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TACCTTCCGCGAGTTCACCCG	0.647000														17			19		0	0	0.00188189	0	0
SPEG	10290	broad.mit.edu	37	2	220338231	220338231	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:220338231A>G	uc010fwg.3	+	16	4153	c.4153A>G	c.(4153-4155)Acc>Gcc	p.T1385A		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1385	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCAGGCCCAACCCTGGAGGA	0.602000														56			35		0	0	0.0024448	0	0
ACER2	340485	broad.mit.edu	37	9	19435068	19435068	+	Silent	SNP	C	T	T	rs141700425	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:19435068C>T	uc003zny.1	+	3	647	c.489C>T	c.(487-489)atC>atT	p.I163I	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Silent_p.I114I	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	163					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CACTGCTCATCGCAGAGCTAA	0.552000														27			16		0	0	0.000566183	0	0
IPO8	10526	broad.mit.edu	37	12	30818721	30818721	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:30818721G>A	uc001rjd.3	-	11	1628	c.1280C>T	c.(1279-1281)cCt>cTt	p.P427L	IPO8_uc010sjt.2_Missense_Mutation_p.P222L|IPO8_uc001rje.1_5'Flank	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	427					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTCTTCCTAGGGTCAAAGTT	0.353000														42			20		0	0	0.00229938	0	0
ADAT1	23536	broad.mit.edu	37	16	75646172	75646173	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:75646172_75646173GG>AA	uc002feo.2	-	6	1180_1181	c.1011_1012CC>TT	c.(1009-1014)agccag>agTTag	p.Q338*	ADAT1_uc002fep.2_Nonsense_Mutation_p.Q189*	NM_012091	NP_036223	Q9BUB4	ADAT1_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 1 (ADAT1), transcript variant 1, mRNA.	338	A to I editase.				tRNA processing		RNA binding|metal ion binding|tRNA-specific adenosine deaminase activity			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						ATGGCTTCCTGGCTGTATGGGC	0.554000														30			21		0	0	6.4e-05	0	0
IP6K3	117283	broad.mit.edu	37	6	33703227	33703227	+	Silent	SNP	G	A	A	rs150212654		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33703227G>A	uc010jvf.2	-	2	563	c.27C>T	c.(25-27)gcC>gcT	p.A9A	IP6K3_uc003ofb.2_Silent_p.A9A	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	9					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCATGTCCCCGGCGTCTGCGC	0.617000														25			9		0	0	0.000978159	0	0
TTF1	7270	broad.mit.edu	37	9	135277771	135277771	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:135277771C>T	uc004cbl.3	-	1	507	c.438G>A	c.(436-438)caG>caA	p.Q146Q	TTF1_uc004cbm.3_Intron|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	146	N-terminal region (NRD) (By similarity).				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TAGCAAGTACCTGAAATTTGT	0.383000														73			41		0	0	0.00128727	0	0
RERE	473	broad.mit.edu	37	1	8418512	8418512	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:8418512G>A	uc001ape.3	-	20	4893	c.4083C>T	c.(4081-4083)ccC>ccT	p.P1361P	RERE_uc001apf.3_Silent_p.P1361P|RERE_uc001apd.3_Silent_p.P807P	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1361					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAAAAGGGTGGGGCCCGGCGG	0.697000														13			4		0	0	0.00024832	0	0
ANXA2	302	broad.mit.edu	37	15	60646353	60646354	+	Splice_Site	DNP	CC	TT	TT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:60646353_60646354CC>TT	uc002agm.3	-	8	715	c.642_splice	c.e8+1	p.R214_splice	ANXA2_uc002agk.3_Splice_Site_p.R196_splice|ANXA2_uc002agn.3_Splice_Site_p.R196_splice|ANXA2_uc002agl.3_Splice_Site_p.R196_splice|ANXA2_uc010uhd.2_Intron	NM_001002858	NP_001002858	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 1, mRNA.	196					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CAGCACTTACCCGAGCATCTTG	0.386000														7			14		0	0	6.4e-05	0	0
FGD3	89846	broad.mit.edu	37	9	95738973	95738973	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:95738973G>A	uc004asz.2	+	2	963	c.435G>A	c.(433-435)aaG>aaA	p.K145K	FGD3_uc004asw.2_Silent_p.K145K|FGD3_uc004asx.2_Silent_p.K145K	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	145					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGGCTGACAAGGATGCCGGCC	0.642000														26			12		0	0	0.00136819	0	0
TRIM71	131405	broad.mit.edu	37	3	32859584	32859584	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:32859584C>T	uc003cff.3	+	0	75	c.12C>T	c.(10-12)ttC>ttT	p.F4F		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	4					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGGCTTCGTTCCCCGAGACCG	0.647000														14			13		0	0	0.00185496	0	0
ERGIC3	51614	broad.mit.edu	37	20	34144766	34144766	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:34144766C>T	uc002xcs.3	+	11	986	c.917C>T	c.(916-918)tCt>tTt	p.S306F	ERGIC3_uc002xct.3_Missense_Mutation_p.S301F	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	301					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			AATCAGTTCTCTGTGACCAGA	0.612000														22			15		0	0	0.000958276	0	0
HDAC9	9734	broad.mit.edu	37	7	18975497	18975497	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:18975497G>A	uc003sui.3	+	21	2910	c.2869G>A	c.(2869-2871)Gga>Aga	p.G957R	HDAC9_uc003sue.3_Missense_Mutation_p.G954R|HDAC9_uc003suh.3_Missense_Mutation_p.G954R|HDAC9_uc003suj.3_Missense_Mutation_p.G913R|HDAC9_uc003suk.3_Missense_Mutation_p.G202R	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	954	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GGCTCTAGAAGGAGGACATGA	0.418000														143			71		0	0	0.000781405	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862476	94862476	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:94862476C>T	uc001pfh.3	+	1	1354	c.1236C>T	c.(1234-1236)ctC>ctT	p.L412L		NM_015036	NP_055851	O94919	ENDD1_HUMAN	Homo sapiens endonuclease domain containing 1 (ENDOD1), mRNA.	412						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCAGGGCTCTCCTCCGGATCC	0.552000														39			45		0	0	0.000781405	0	0
DOCK11	139818	broad.mit.edu	37	X	117814593	117814593	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:117814593C>T	uc004eqp.2	+	48	5672	c.5609C>T	c.(5608-5610)aCt>aTt	p.T1870I	DOCK11_uc004eqq.2_Missense_Mutation_p.T1649I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1870	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GCCCCTTACACTTTATCAGGC	0.353000														146			66		0	0	0.000781405	0	0
CDHR1	92211	broad.mit.edu	37	10	85972965	85972965	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:85972965C>T	uc001kcv.3	+	15	2006	c.1901C>T	c.(1900-1902)tCc>tTc	p.S634F	CDHR1_uc001kcw.3_Missense_Mutation_p.S634F|CDHR1_uc009xst.3_Missense_Mutation_p.S338F|CDHR1_uc001kcx.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	634	Cadherin 6.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTCAAGAATTCCATCCGCTCC	0.587000														42			32		0	0	0.00058488	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847928	18847928	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:18847928C>T	uc021qvx.1	-	11	1568	c.1377G>A	c.(1375-1377)ttG>ttA	p.L459L	PLCZ1_uc001rdv.4_Silent_p.L355L|PLCZ1_uc001rdw.4_Silent_p.L200L|PLCZ1_uc001rdu.1_Silent_p.L241L|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	459	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AATGTGGTTTCAAAATATATC	0.343000														38			20		0	0	0.000958276	0	0
SLC17A1	6568	broad.mit.edu	37	6	25811930	25811930	+	Silent	SNP	T	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:25811930T>G	uc003nfh.4	-	8	1082	c.966A>C	c.(964-966)tcA>tcC	p.S322S	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.S322S|SLC17A1_uc010jqc.1_Silent_p.S266S	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	322					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.S322*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GGAAGAAGTCTGATAACTGAC	0.448000														41			17		0	0	0.00074312	0	0
ZNF775	285971	broad.mit.edu	37	7	150095105	150095105	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:150095105C>T	uc003whf.1	+	2	1661	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	LOC728743_uc003whg.3_5'Flank	NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCGGCTTCAGCCAGAAGCAGC	0.726000														6			3		0	0	6.4e-05	0	0
STK31	56164	broad.mit.edu	37	7	23808674	23808674	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:23808674G>A	uc003sws.4	+	11	1544	c.1477G>A	c.(1477-1479)Gaa>Aaa	p.E493K	STK31_uc003swt.4_Missense_Mutation_p.E470K|STK31_uc011jze.2_Missense_Mutation_p.E493K|STK31_uc010kuq.3_Missense_Mutation_p.E470K	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	493							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATTCTGATGAAATACTTAA	0.368000														38			36		0	0	0.000953801	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	T	T	rs4996269	by1000genomes	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:145296403C>T	uc021oul.1	+	2	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L109L|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	109										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GCTGACCCAGCTAAGGGAGAA	0.517000														174			5		0	0	0.000602214	0	0
CDR1	1038	broad.mit.edu	37	X	139865895	139865895	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:139865895C>T	uc004fbg.1	-	0	829	c.637G>A	c.(637-639)Gga>Aga	p.G213R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	213										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCAGTCAATCCACATCTTCCG	0.433000														83			44		0	0	0.0025221	0	0
NPC1L1	29881	broad.mit.edu	37	7	44578891	44578891	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:44578891C>T	uc003tlb.3	-	1	1161	c.1105G>A	c.(1105-1107)Ggc>Agc	p.G369S	NPC1L1_uc011kbw.2_Missense_Mutation_p.G369S|NPC1L1_uc003tlc.3_Missense_Mutation_p.G369S|NPC1L1_uc003tld.3_Missense_Mutation_p.G369S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	369					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AAGACCAGGCCCGCTGCCAAG	0.617000														30			37		0	0	0.000692331	0	0
HARS2	23438	broad.mit.edu	37	5	140076761	140076761	+	Missense_Mutation	SNP	C	T	T	rs75387627		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140076761C>T	uc003lgx.3	+	9	1183	c.967C>T	c.(967-969)Ctc>Ttc	p.L323F	HARS2_uc011czr.2_Missense_Mutation_p.L298F|HARS2_uc011czs.2_Missense_Mutation_p.L179F|HARS2_uc011czt.2_Missense_Mutation_p.L151F|HARS2_uc011czu.2_Missense_Mutation_p.L149F	NM_012208	NP_036340	P49590	SYHM_HUMAN	Homo sapiens histidyl-tRNA synthetase 2, mitochondrial (putative) (HARS2), nuclear gene encoding mitochondrial protein, mRNA.	323					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTTTGACCTCAGCCTGGC	0.557000														50			39		0	0	0.00170553	0	0
MUSK	4593	broad.mit.edu	37	9	113431248	113431248	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:113431248G>A	uc022blv.1	+	0	198	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MUSK_uc022blt.1_Missense_Mutation_p.E22K|MUSK_uc004bez.2_Missense_Mutation_p.E22K|MUSK_uc022blu.1_Missense_Mutation_p.E22K	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	22					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.T21T(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CAGCGGAACTGAGAAACTTCC	0.423000														151			28		0	0	0.00127121	0	0
ITPR3	3710	broad.mit.edu	37	6	33639930	33639930	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33639930G>A	uc021ywr.1	+	21	3077	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	951					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGAGCCGCTGGACAGAAGCA	0.597000														55			22		0	0	0.00047179	0	0
TNN	63923	broad.mit.edu	37	1	175046806	175046806	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:175046806C>T	uc001gkl.1	+	1	365	c.252C>T	c.(250-252)atC>atT	p.I84I	TNN_uc010pmx.1_Silent_p.I84I	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	84					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AACAGAACATCATCTTCAGGC	0.612000														24			11		0	0	0.00136819	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174115	63174115	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483000														28			14		0	0	0.00244969	0	0
ABCC11	85320	broad.mit.edu	37	16	48226485	48226485	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:48226485G>A	uc002eff.1	-	18	3002	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	ABCC11_uc002efg.1_Silent_p.F884F|ABCC11_uc002efh.1_Silent_p.F884F|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	884	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TGACCTTGGTGAAAATCCCTG	0.577000														33			30		0	0	0.00127121	0	0
XRCC2	7516	broad.mit.edu	37	7	152346130	152346130	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:152346130A>G	uc003wld.3	-	2	526	c.440T>C	c.(439-441)aTt>aCt	p.I147T		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	147					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCTATCCAAAATCAAAAGGCA	0.408000								Homologous recombination						69			20		0	0	0.00121646	0	0
HCFC1	3054	broad.mit.edu	37	X	153220575	153220575	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:153220575G>A	uc004fjp.3	-	16	3803	c.3275C>T	c.(3274-3276)aCc>aTc	p.T1092I		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	1092					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ggtggcggtggtggcggtgtt	0.647000														22			14		0	0	0.00244969	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65350368	65350368	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:65350368C>T	uc003juk.2	+	20	3532	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	ERBB2IP_uc011cqx.2_Silent_p.I1074I|ERBB2IP_uc003jui.2_Silent_p.I1074I|ERBB2IP_uc003jul.2_Silent_p.I1070I|ERBB2IP_uc011cqy.2_Silent_p.I1074I|ERBB2IP_uc003juj.2_Silent_p.I1074I|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Silent_p.I1070I	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1074					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAAGTACAATCCAGCGACAAA	0.473000														45			39		0	0	0.00285205	0	0
TTC26	79989	broad.mit.edu	37	7	138819411	138819411	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:138819411G>A	uc003vus.2	+	1	128	c.14G>A	c.(13-15)aGg>aAg	p.R5K	TTC26_uc003vuq.2_Missense_Mutation_p.R5K|TTC26_uc011kqm.1_Missense_Mutation_p.R5K|TTC26_uc003vur.4_Missense_Mutation_p.R5K|TTC26_uc011kqn.1_Missense_Mutation_p.R5K|TTC26_uc011kqo.1_Missense_Mutation_p.R5K|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_Missense_Mutation_p.R5K	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	5							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						ATGCTTTCAAGGGCCAAACCT	0.398000														27			35		0	0	0.00111076	0	0
ASB2	51676	broad.mit.edu	37	14	94401096	94401096	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:94401096C>T	uc001ycd.3	-	9	2184	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	ASB2_uc001ycb.2_Missense_Mutation_p.R251Q|ASB2_uc001ycc.2_Missense_Mutation_p.R557Q	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	557					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AATGGCCTTTCGAACCCGCAG	0.488000														55			26		0	0	0.000720815	0	0
COL11A2	1302	broad.mit.edu	37	6	33145223	33145223	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:33145223C>T	uc003ocx.1	-	22	2165	c.1937G>A	c.(1936-1938)gGa>gAa	p.G646E	COL11A2_uc010jul.1_Missense_Mutation_p.D26N|COL11A2_uc003ocy.1_Missense_Mutation_p.G560E|COL11A2_uc003ocz.1_Missense_Mutation_p.G539E	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	646	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCAGGAGGTCCTGGCTCTCC	0.582000														26			15		0	0	0.000308642	0	0
MAN2A1	4124	broad.mit.edu	37	5	109181655	109181655	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:109181655T>G	uc003kou.1	+	17	3753	c.2790T>G	c.(2788-2790)caT>caG	p.H930Q		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	930					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ATGCCAAACATCGTTTGACAC	0.408000														37			47		0	0	0.000781405	0	0
GPR115	221393	broad.mit.edu	37	6	47682748	47682748	+	Silent	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:47682748T>C	uc003oyz.1	+	6	1938	c.1938T>C	c.(1936-1938)atT>atC	p.I646I	GPR115_uc003oza.1_Silent_p.I589I|GPR115_uc003ozb.1_Silent_p.I589I|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	589					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GGCCCTCTATTGGCAGTTCCA	0.478000														97			57		0	0	0.000781405	0	0
DEF6	50619	broad.mit.edu	37	6	35280207	35280208	+	Silent	DNP	CC	TT	TT	rs146706360		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:35280207_35280208CC>TT	uc003okk.3	+	3	591_592	c.552_553CC>TT	c.(550-555)ttcctg>ttTTtg	p.184_185FL>FL	DEF6_uc010jvs.3_Silent_p.184_185FL>FL|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	184						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						TCTGGCAGTTCCTGGAGCTCTT	0.658000														73			25		0	0	6.4e-05	0	0
INCENP	3619	broad.mit.edu	37	11	61895761	61895761	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:61895761G>A	uc001nsw.1	+	1	330	c.128G>A	c.(127-129)cGc>cAc	p.R43H	INCENP_uc009ynv.3_Missense_Mutation_p.R43H|INCENP_uc009ynw.1_Missense_Mutation_p.R43H|INCENP_uc001nsx.1_Missense_Mutation_p.R43H	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	43					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GAGGCCGAGCGCATGTTCACC	0.572000														29			23		0	0	0.000720815	0	0
ODZ1	10178	broad.mit.edu	37	X	123517893	123517893	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:123517893C>T	uc010nqy.3	-	29	6952	c.6888G>A	c.(6886-6888)tcG>tcA	p.S2296S	ODZ1_uc011muj.2_Silent_p.S2295S|ODZ1_uc004euj.3_Silent_p.S2289S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2289					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ATGTAATCTCCGAGCTTGTGT	0.443000														109			58		0	0	0.000781405	0	0
EPHA5	2044	broad.mit.edu	37	4	66280049	66280049	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:66280049C>T	uc003hcy.3	-	6	1833	c.1640G>A	c.(1639-1641)gGc>gAc	p.G547D	EPHA5_uc003hcx.3_Missense_Mutation_p.G478D|EPHA5_uc003hcz.3_Missense_Mutation_p.G547D|EPHA5_uc011cah.2_Missense_Mutation_p.G547D|EPHA5_uc011cai.2_Missense_Mutation_p.G547D|EPHA5_uc003hda.2_Missense_Mutation_p.G547D	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	547	Fibronectin type-III 2.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.G547S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GACACCATAGCCTGCTGCTGT	0.408000										TSP Lung(17;0.13)				54			28		0	0	0.00127121	0	0
MYH1	4619	broad.mit.edu	37	17	10399767	10399767	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:10399767C>T	uc002gmo.3	-	33	4850	c.4756G>A	c.(4756-4758)Gaa>Aaa	p.E1586K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1586						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTCAATTTCCTCATCTTTT	0.453000														56			65		0	0	0.000781405	0	0
CHIA	27159	broad.mit.edu	37	1	111862065	111862065	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:111862065G>A	uc001eas.3	+	10	1309	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	CHIA_uc001ear.3_Silent_p.K276K|CHIA_uc001eaq.3_Silent_p.K276K|CHIA_uc009wgc.3_Silent_p.K276K|CHIA_uc001eat.3_Silent_p.K223K|CHIA_uc001eav.3_Silent_p.K223K|CHIA_uc001eau.3_Silent_p.K223K|CHIA_uc009wgd.3_Silent_p.K223K	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	384					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		CCACCCTGAAGAAGGCCCTCG	0.517000														45			16		0	0	0.000958276	0	0
PLIN5	440503	broad.mit.edu	37	19	4529248	4529248	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:4529248C>T	uc002mas.3	-	4	410	c.357G>A	c.(355-357)aaG>aaA	p.K119K	PLIN5_uc002mat.1_3'UTR	NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	119						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCACCACGTCCTTGGCTGAGG	0.677000														27			30		0	0	0.0024448	0	0
KANK1	23189	broad.mit.edu	37	9	711620	711620	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:711620C>T	uc003zgl.1	+	6	1503	c.854C>T	c.(853-855)cCt>cTt	p.P285L	KANK1_uc003zgm.3_Missense_Mutation_p.P285L|KANK1_uc003zgn.1_Missense_Mutation_p.P285L|KANK1_uc003zgo.1_Missense_Mutation_p.P285L|KANK1_uc003zgp.1_Missense_Mutation_p.P285L|KANK1_uc003zgq.2_Missense_Mutation_p.P127L|KANK1_uc003zgr.1_Missense_Mutation_p.P127L|KANK1_uc003zgs.1_Missense_Mutation_p.P127L	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	285					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CGAACCATCCCTGTGCTCCAG	0.542000														33			26		0	0	0.00106085	0	0
RNF31	55072	broad.mit.edu	37	14	24618780	24618780	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:24618780A>T	uc001wmn.1	+	5	1046	c.797A>T	c.(796-798)cAc>cTc	p.H266L	PSME2_uc001wmj.3_5'Flank|RNF31_uc001wml.1_Missense_Mutation_p.H115L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.H81L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	266	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CAGGGTACCCACCTGAGCCCC	0.552000														50			28		0	0	0.00127121	0	0
CCDC158	339965	broad.mit.edu	37	4	77288469	77288469	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:77288469C>T	uc003hkb.4	-	10	1961	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	603										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAGTTCCATCCGCCTATCATT	0.398000														80			29		0	0	0.0024448	0	0
CYLC2	1539	broad.mit.edu	37	9	105765445	105765445	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:105765445C>T	uc004bbs.2	+	2	150	c.80C>T	c.(79-81)tCa>tTa	p.S27L		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	27	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.S27S(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGCAAAAAATCATGGAATCAG	0.398000														57			12		0	0	0.00136819	0	0
ZMYM3	9203	broad.mit.edu	37	X	70464712	70464712	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:70464712G>A	uc004dzh.2	-	18	3218	c.3039C>T	c.(3037-3039)ttC>ttT	p.F1013F	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.F1013F|ZMYM3_uc004dzj.2_Silent_p.F1001F	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1013					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AATCAAAGAGGAAGTCTACAC	0.478000														39			16		0	0	0.00121646	0	0
SNTG1	54212	broad.mit.edu	37	8	51314860	51314860	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:51314860G>T	uc010lxy.1	+	4	489	c.118G>T	c.(118-120)Gaa>Taa	p.E40*	SNTG1_uc003xqs.1_Nonsense_Mutation_p.E40*|SNTG1_uc010lxz.1_Nonsense_Mutation_p.E40*|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	40					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				GATGATCCAGGAACAGGATGT	0.383000														77			35		6.97489e-18	3.29804e-17	0.000953801	1	0
MSLNL	401827	broad.mit.edu	37	16	824291	824291	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:824291G>A	uc002cjz.1	-	8	1865	c.1865C>T	c.(1864-1866)tCg>tTg	p.S622L		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	271					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CACCTGGCACGAAGCCACCAC	0.697000														3			6		0	0	0.00116845	0	0
GLIS3	169792	broad.mit.edu	37	9	4125859	4125859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:4125859C>T	uc003zhx.1	-	2	1184	c.471G>A	c.(469-471)atG>atA	p.M157I	GLIS3_uc003zic.1_Missense_Mutation_p.M157I|GLIS3_uc003zie.1_Missense_Mutation_p.M157I|GLIS3_uc010mhh.1_Missense_Mutation_p.M32I|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Missense_Mutation_p.M1I|GLIS3_uc003zhw.1_Missense_Mutation_p.M2I|GLIS3_uc003zib.1_Missense_Mutation_p.M1I|GLIS3_uc010mhg.1_Intron	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	2					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding	p.G156D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTCGCTGAACCATCATGGGAC	0.507000														32			31		0	0	0.00178596	0	0
GPRC6A	222545	broad.mit.edu	37	6	117127921	117127921	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:117127921T>C	uc003pxj.1	-	2	969	c.947A>G	c.(946-948)aAt>aGt	p.N316S	GPRC6A_uc003pxk.1_Intron|GPRC6A_uc003pxl.1_Missense_Mutation_p.N316S	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	316					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTTTTAACATTAGGAATGGT	0.363000														45			13		0	0	0.00185496	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374606	113374606	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:113374606G>A	uc003eam.3	-	6	6334	c.5923C>T	c.(5923-5925)Ccc>Tcc	p.P1975S	KIAA2018_uc003eal.3_Missense_Mutation_p.P1919S	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN	Homo sapiens KIAA2018 (KIAA2018), mRNA.	1975					regulation of transcription, DNA-dependent	membrane|nucleus	DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATCTCTGGGGAACTGAAGAA	0.498000														30			15		0	0	0.00244969	0	0
MCTP2	55784	broad.mit.edu	37	15	94841704	94841704	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:94841704G>A	uc002btj.3	+	0	275	c.210G>A	c.(208-210)ggG>ggA	p.G70G	MCTP2_uc010urg.1_Silent_p.G70G|MCTP2_uc002bti.2_Silent_p.G70G|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Silent_p.G70G|MCTP2_uc002btg.4_Silent_p.G70G|MCTP2_uc002bth.4_Silent_p.G70G	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	70					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTACTCCGGGCCACAGTCTT	0.592000														27			60		0	0	0.000781405	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746778	77746778	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:77746778T>C	uc002snr.3	-	2	632	c.217A>G	c.(217-219)Att>Gtt	p.I73V	LRRTM4_uc002snq.3_Missense_Mutation_p.I73V|LRRTM4_uc002sns.2_Missense_Mutation_p.I73V|LRRTM4_uc002snt.2_Missense_Mutation_p.I74V	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	73						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGCTTCTGAATGCTGTTGAAC	0.408000														45			14		0	0	0.000422831	0	0
APLF	200558	broad.mit.edu	37	2	68753283	68753283	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:68753283C>T	uc002sep.3	+	5	886	c.713C>T	c.(712-714)tCa>tTa	p.S238L	APLF_uc010fdf.2_Missense_Mutation_p.S214L	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	238					double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						CAATTAATTTCATCAGGAAGT	0.378000														64			8		0	0	0.000442599	0	0
ENPP7	339221	broad.mit.edu	37	17	77709027	77709027	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:77709027C>T	uc002jxa.3	+	2	605	c.585C>T	c.(583-585)ttC>ttT	p.F195F		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	195					negative regulation of DNA replication|negative regulation of cell proliferation|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACTCTACTTCGGGGAGCCGG	0.622000														18			10		0	0	0.00136819	0	0
THSD7B	80731	broad.mit.edu	37	2	138421075	138421075	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:138421075G>A	uc002tva.1	+	24	4491	c.4491G>A	c.(4489-4491)ggG>ggA	p.G1497G	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACCTTTCTGGGAAAAACAGAC	0.363000														12			3		0	0	6.4e-05	0	0
TYK2	7297	broad.mit.edu	37	19	10476451	10476451	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:10476451G>A	uc002moc.4	-	6	1131	c.753C>T	c.(751-753)tcC>tcT	p.S251S	TYK2_uc010dxe.3_Silent_p.S66S|TYK2_uc002mod.2_Silent_p.S251S	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	251	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCATCTGCTGGGAGAGTCGGC	0.677000														8			7		0	0	0.000157383	0	0
ADCY10	55811	broad.mit.edu	37	1	167805774	167805774	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:167805774C>T	uc001ger.3	-	22	3380	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	ADCY10_uc009wvj.3_5'Flank|ADCY10_uc010plj.2_Missense_Mutation_p.E875K|ADCY10_uc009wvk.3_Missense_Mutation_p.E936K	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1028					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						CTTATTTCTTCAGGACTGTCC	0.358000														65			20		0	0	0.00229938	0	0
CACNA1G	8913	broad.mit.edu	37	17	48692763	48692763	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:48692763C>T	uc002irk.1	+	26	5173	c.4801C>T	c.(4801-4803)Cgg>Tgg	p.R1601W	CACNA1G_uc002irj.1_Missense_Mutation_p.R1567W|CACNA1G_uc002irl.1_Missense_Mutation_p.R1578W|CACNA1G_uc002irm.1_Missense_Mutation_p.R1567W|CACNA1G_uc002irn.1_Missense_Mutation_p.R1560W|CACNA1G_uc002iro.1_Missense_Mutation_p.R1567W|CACNA1G_uc002irp.1_Missense_Mutation_p.R1601W|CACNA1G_uc002irq.1_Missense_Mutation_p.R1578W|CACNA1G_uc002irr.1_Missense_Mutation_p.R1601W|CACNA1G_uc002irs.1_Missense_Mutation_p.R1590W|CACNA1G_uc002irt.1_Missense_Mutation_p.R1583W|CACNA1G_uc002iru.1_Missense_Mutation_p.R1567W|CACNA1G_uc002irv.1_Missense_Mutation_p.R1590W|CACNA1G_uc002irw.1_Missense_Mutation_p.R1578W|CACNA1G_uc002irx.1_Missense_Mutation_p.R1514W|CACNA1G_uc002iry.1_Missense_Mutation_p.R1503W|CACNA1G_uc002isg.1_Missense_Mutation_p.R1462W|CACNA1G_uc002ish.1_Missense_Mutation_p.R1469W|CACNA1G_uc002isi.1_Missense_Mutation_p.R1457W|CACNA1G_uc002irz.1_Missense_Mutation_p.R1514W|CACNA1G_uc002isa.1_Missense_Mutation_p.R1480W|CACNA1G_uc002isd.1_Missense_Mutation_p.R1496W|CACNA1G_uc002isb.1_Missense_Mutation_p.R1521W|CACNA1G_uc002isc.1_Missense_Mutation_p.R1503W|CACNA1G_uc002ise.1_Missense_Mutation_p.R1469W|CACNA1G_uc002isf.1_Missense_Mutation_p.R1496W	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1601					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCCGCTTCCGGCTCCTCGT	0.622000														17			19		0	0	0.00152264	0	0
FAM57B	83723	broad.mit.edu	37	16	30037138	30037138	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:30037138C>T	uc002dvt.3	-	3	787	c.449G>A	c.(448-450)tGg>tAg	p.W150*	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	150	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						ACCCTGTCGCCACACCTGGGC	0.597000														67			47		0	0	0.0025221	0	0
CR2	1380	broad.mit.edu	37	1	207643212	207643212	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:207643212G>A	uc001hfw.3	+	5	1109	c.990G>A	c.(988-990)caG>caA	p.Q330Q	CR2_uc001hfv.3_Silent_p.Q330Q|CR2_uc009xch.3_Silent_p.Q330Q|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	330	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTGATAGTCAGAAGACTGGGA	0.517000														17			12		0	0	0.00136819	0	0
ATP1A4	480	broad.mit.edu	37	1	160141540	160141540	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:160141540G>A	uc001fve.4	+	11	2326	c.1847G>A	c.(1846-1848)gGa>gAa	p.G616E	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.G119E	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	616					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGCAGTGCAGGAATTAAGGTA	0.498000														85			33		0	0	0.000692331	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40836075	40836076	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:40836075_40836076GG>AA	uc002iay.3	+	2	407_408	c.191_192GG>AA	c.(190-192)cgg>cAA	p.R64Q	CCR10_uc002iax.4_5'Flank|CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	64	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGGTCACCACGGATTGGGGATC	0.594000														42			40		0	0	6.4e-05	0	0
YSK4	80122	broad.mit.edu	37	2	135745354	135745354	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:135745354T>C	uc002tue.1	-	6	1119	c.1088A>G	c.(1087-1089)aAc>aGc	p.N363S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.N250S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.N91S|YSK4_uc002tui.4_Missense_Mutation_p.N380S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	363							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATTGAGAGTTCTCTTCTTC	0.378000														58			27		0	0	0.000720815	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696822	153696822	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:153696822G>A	uc004flm.3	+	22	4313	c.4140G>A	c.(4138-4140)acG>acA	p.T1380T		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1380					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACTATGCCACGGGGCTGCTCA	0.647000														39			13		0	0	0.00185496	0	0
SYT15	83849	broad.mit.edu	37	10	46968679	46968679	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:46968679C>T	uc001jea.3	-	2	410	c.257G>A	c.(256-258)cGa>cAa	p.R86Q	SYT15_uc001jdz.2_Missense_Mutation_p.R86Q|SYT15_uc001jeb.3_5'UTR|SYT15_uc010qfp.1_5'Flank	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	86						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CACCCAATCTCGGCCTTGAAG	0.632000														42			13		0	0	0.00244969	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:121761086G>A	uc003ksw.1	+	4	1248	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K	SNCAIP_uc011cwl.1_Intron|SNCAIP_uc010jct.3_Missense_Mutation_p.E348K|SNCAIP_uc003ksy.1_Intron|SNCAIP_uc003ksx.1_Missense_Mutation_p.E395K|SNCAIP_uc003ksz.1_Intron|SNCAIP_uc010jcu.2_Intron|SNCAIP_uc011cwm.1_Intron|SNCAIP_uc003kta.1_Intron|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.E42K|SNCAIP_uc010jcx.1_Intron	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding	p.D347H(1)		NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000														46			49		0	0	0.000781405	0	0
KCNK10	54207	broad.mit.edu	37	14	88693821	88693821	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:88693821G>A	uc001xwm.3	-	3	701	c.579C>T	c.(577-579)gcC>gcT	p.A193A	KCNK10_uc001xwn.3_Silent_p.A193A|KCNK10_uc001xwo.3_Silent_p.A188A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	188					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCAAAGATGGCATATAAAA	0.413000														95			39		0	0	0.00170553	0	0
DNAJC16	23341	broad.mit.edu	37	1	15890475	15890475	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:15890475C>T	uc001aws.3	+	9	1510	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L	DNAJC16_uc001awr.1_Silent_p.L464L|DNAJC16_uc001awt.3_Silent_p.L152L|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	464					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.L464M(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GTATAAAACCCTGGAAGACCC	0.443000														144			95		0	0	0.000781405	0	0
DSCAM	1826	broad.mit.edu	37	21	41465752	41465752	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:41465752G>A	uc002yyq.1	-	20	4198	c.3746C>T	c.(3745-3747)cCc>cTc	p.P1249L	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1249	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.P1249S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACTCAGGTTGGGAATTCTGTA	0.488000														30			17		0	0	0.000566183	0	0
PLCL1	5334	broad.mit.edu	37	2	198949322	198949322	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:198949322G>A	uc010fsp.3	+	1	1479	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PLCL1_uc002uuv.4_Missense_Mutation_p.E282K	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	361					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)	AAGGAGATACGAACTTTCTGA	0.388000														53			20		0	0	0.00121646	0	0
SKIV2L	6499	broad.mit.edu	37	6	31933721	31933721	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:31933721C>T	uc003nyn.1	+	17	2522	c.2133C>T	c.(2131-2133)ccC>ccT	p.P711P	SKIV2L_uc011dou.1_Silent_p.P553P|SKIV2L_uc011dov.1_Silent_p.P518P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	711	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCTGGACCCCACAGGCACCG	0.667000														178			78		0	0	0.000781405	0	0
PZP	5858	broad.mit.edu	37	12	9309907	9309907	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:9309907C>T	uc001qvl.3	-	27	3443	c.3414G>A	c.(3412-3414)tgG>tgA	p.W1138*	PZP_uc009zgl.3_Nonsense_Mutation_p.W924*	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTGCTACATTCCAGGCTGACT	0.488000														52			25		0	0	0.000878237	0	0
RTN3	10313	broad.mit.edu	37	11	63486692	63486692	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:63486692G>A	uc001nxq.3	+	2	905	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.E128K|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.E221K|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	240					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane		p.D239N(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGATGTTATTGAAAAGGATTC	0.368000														50			7		0	0	0.00198382	0	0
ZNF232	7775	broad.mit.edu	37	17	5012287	5012287	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:5012287C>T	uc002gat.3	-	3	1214	c.559G>A	c.(559-561)Gga>Aga	p.G187R	ZNF232_uc002gar.1_Missense_Mutation_p.G187R|ZNF232_uc010vsv.1_3'UTR	NM_014519	NP_055334	Q9UNY5	ZN232_HUMAN	Homo sapiens zinc finger protein 232 (ZNF232), mRNA.	160					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGGCTGCTCCCAGAGATTCC	0.562000														63			53		0	0	0.000781405	0	0
DKK2	27123	broad.mit.edu	37	4	107846995	107846995	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:107846995G>A	uc003hyi.3	-	1	1039	c.334C>T	c.(334-336)Cga>Tga	p.R112*	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Nonsense_Mutation_p.R112*	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	112	DKK-type Cys-1.				Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space		p.R112*(2)|p.R112G(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGCCATCTCGGTGGCAGCGC	0.493000														67			46		0	0	0.000781405	0	0
ABCC10	89845	broad.mit.edu	37	6	43406504	43406504	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:43406504G>A	uc003ouy.1	+	7	2313	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ABCC10_uc003ouz.1_Missense_Mutation_p.E672K|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	700	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAGGTGCTAGAAGCCTGCGC	0.547000														52			30		0	0	0.00283554	0	0
BTN1A1	696	broad.mit.edu	37	6	26505364	26505364	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:26505364G>A	uc003nif.4	+	2	696	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	213	Ig-like V-type 2.		A -> T (in dbSNP:rs3736781).			extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						ACACTTCTGCGAAAAATGTGT	0.453000														70			41		0	0	0.00222228	0	0
CPT1C	126129	broad.mit.edu	37	19	50208316	50208316	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:50208316C>T	uc010eng.3	+	8	1140	c.824C>T	c.(823-825)gCc>gTc	p.A275V	CPT1C_uc002ppl.4_Missense_Mutation_p.A241V|CPT1C_uc002ppi.3_Missense_Mutation_p.A192V|CPT1C_uc002ppk.3_Missense_Mutation_p.A264V|CPT1C_uc010enh.3_Missense_Mutation_p.A275V|CPT1C_uc002ppj.3_Missense_Mutation_p.A275V|CPT1C_uc010ybc.1_Missense_Mutation_p.A113V|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	275					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GCTGGGAATGCCGTCCATGCC	0.647000														44			21		0	0	0.00188189	0	0
MAN2A1	4124	broad.mit.edu	37	5	109125208	109125208	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:109125208A>G	uc003kou.1	+	11	2886	c.1923A>G	c.(1921-1923)atA>atG	p.I641M		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	641					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	p.I641M(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAATATAATAAGGCTGAGTG	0.299000														8			4		0	0	0.000602214	0	0
ZNF474	133923	broad.mit.edu	37	5	121488488	121488488	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:121488488C>T	uc003ksv.3	+	1	1179	c.803C>T	c.(802-804)cCc>cTc	p.P268L	ZNF474_uc021ycy.1_Missense_Mutation_p.P268L	NM_207317	NP_997200	Q6S9Z5	ZN474_HUMAN	Homo sapiens zinc finger protein 474 (ZNF474), mRNA.	268						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		AAGCCTCAGCCCCTTCCGAAT	0.542000														13			24		0	0	0.00127121	0	0
KIF26B	55083	broad.mit.edu	37	1	245849121	245849122	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:245849121_245849122CC>TT	uc001ibf.1	+	11	3276_3277	c.2836_2837CC>TT	c.(2836-2838)cct>TTt	p.P946F	KIF26B_uc001ibg.1_Missense_Mutation_p.P564F|KIF26B_uc001ibh.1_Missense_Mutation_p.P188F	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	946					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)			CAGCAGCTTTCCTTTCGAAGAA	0.604000														20			9		0	0	6.4e-05	0	0
KCNQ2	3785	broad.mit.edu	37	20	62076679	62076679	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:62076679G>A	uc002yey.1	-	2	603	c.426C>T	c.(424-426)ttC>ttT	p.F142F	KCNQ2_uc002yez.1_Silent_p.F142F|KCNQ2_uc002yfa.1_Silent_p.F142F|KCNQ2_uc002yfb.1_Silent_p.F142F|KCNQ2_uc011aax.1_Silent_p.F142F|KCNQ2_uc002yfc.1_Silent_p.F142F	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 2 (KCNQ2), transcript variant 1, mRNA.	142					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	AGATCCGCACGAAGTACTCCA	0.647000														30			18		0	0	0.00074312	0	0
DSG3	1830	broad.mit.edu	37	18	29046501	29046501	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:29046501G>A	uc002kws.3	+	10	1529	c.1420G>A	c.(1420-1422)Ggt>Agt	p.G474S		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	474	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T473T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAATACACGGGTAAAACTTC	0.358000														75			31		0	0	0.00209593	0	0
NNT	23530	broad.mit.edu	37	5	43628326	43628326	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:43628326G>A	uc003joe.3	+	6	1056	c.801G>A	c.(799-801)aaG>aaA	p.K267K	NNT_uc003jof.3_Silent_p.K267K	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	267					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AACAGTTCAAGTCTCTTGGTG	0.418000														96			35		0	0	0.000953801	0	0
SRPX2	27286	broad.mit.edu	37	X	99921834	99921834	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:99921834G>A	uc004egb.3	+	7	1345	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	289	Sushi 3.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	p.C288R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGCCACCTGTGAATACCACTG	0.607000														54			32		0	0	0.00283554	0	0
SYCP2L	221711	broad.mit.edu	37	6	10942729	10942729	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:10942729C>T	uc003mzo.3	+	21	2147	c.1851C>T	c.(1849-1851)tcC>tcT	p.S617S	SYCP2L_uc010jow.3_Silent_p.S237S	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	617						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGCTCTCTTCCTTGAAGCACT	0.353000														22			7		0	0	0.00198382	0	0
DMD	1756	broad.mit.edu	37	X	32328381	32328381	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:32328381C>T	uc004dda.1	-	41	6179	c.5935G>A	c.(5935-5937)Gaa>Aaa	p.E1979K	DMD_uc004dcw.2_Missense_Mutation_p.E635K|DMD_uc004dcx.2_Missense_Mutation_p.E638K|DMD_uc004dcz.2_Missense_Mutation_p.E1856K|DMD_uc004dcy.1_Missense_Mutation_p.E1975K|DMD_uc004ddb.1_Missense_Mutation_p.E1971K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1979					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1979K(1)|p.E1975K(1)|p.E638K(1)|p.E1974K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGTTTCTTCACGGACAGTG	0.368000														17			4		0	0	0.00024832	0	0
EYA1	2138	broad.mit.edu	37	8	72127951	72127951	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:72127951G>A	uc003xyu.3	-	14	2013	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	EYA1_uc003xyt.4_Missense_Mutation_p.P425L|EYA1_uc003xyr.4_Missense_Mutation_p.P423L|EYA1_uc010lzf.3_Missense_Mutation_p.P385L|EYA1_uc003xys.4_Missense_Mutation_p.P458L|EYA1_uc011lfe.2_Missense_Mutation_p.P452L|EYA1_uc003xyv.3_Missense_Mutation_p.P336L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	458					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CCTCTTAGCTGGACCAAGCAG	0.468000														27			10		0	0	0.000673444	0	0
MUC5B	727897	broad.mit.edu	37	11	1271262	1271262	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:1271262C>T	uc001lta.3	+	30	13211	c.13152C>T	c.(13150-13152)tcC>tcT	p.S4384S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4384	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCCTCCTCCACTCCGGGGA	0.667000														26			39		0	0	0.00195071	0	0
AFP	174	broad.mit.edu	37	4	74309109	74309109	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:74309109C>T	uc003hgz.1	+	5	708	c.661C>T	c.(661-663)Caa>Taa	p.Q221*	AFP_uc011cbg.1_5'UTR	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	221	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGTTAAATCAACATGCATG	0.368000									Alpha-Fetoprotein, Hereditary Persistence of					50			15		0	0	0.000566183	0	0
CELF4	56853	broad.mit.edu	37	18	34853100	34853100	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:34853100C>T	uc002lae.2	-	6	1224	c.828G>A	c.(826-828)atG>atA	p.M276I	CELF4_uc021uix.1_Missense_Mutation_p.M274I|CELF4_uc021uiy.1_Missense_Mutation_p.M275I|CELF4_uc002lag.2_Missense_Mutation_p.M266I|CELF4_uc002laf.2_Missense_Mutation_p.M271I|CELF4_uc002lai.2_Missense_Mutation_p.M261I|CELF4_uc002lah.2_Missense_Mutation_p.M1I|CELF4_uc002laj.1_Missense_Mutation_p.G112S	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	276	Ala-rich.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						CGACTGATGCCATCAGGGCCG	0.652000														52			19		0	0	0.00152264	0	0
MPEG1	219972	broad.mit.edu	37	11	58978890	58978890	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:58978890G>A	uc001nnu.4	-	0	1605	c.1449C>T	c.(1447-1449)ttC>ttT	p.F483F		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	483						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TCTTGCTGCTGAAGAGGCCCC	0.488000														45			38		0	0	0.000814825	0	0
SLC17A8	246213	broad.mit.edu	37	12	100774536	100774536	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:100774536G>A	uc010svi.2	+	1	472	c.159G>A	c.(157-159)agG>agA	p.R53R	SLC17A8_uc009ztx.3_Silent_p.R53R	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	53					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						AAGAAGGAAGGCCGGTGCAGA	0.502000														117			61		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778884	140778884	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140778884C>T	uc003lkf.2	+	0	1190	c.1190C>T	c.(1189-1191)tCg>tTg	p.S397L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.S397L	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	403	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCAAAAATTCGTATAAGTTG	0.458000														23			13		0	0	0.00185496	0	0
SPEG	10290	broad.mit.edu	37	2	220356966	220356966	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:220356966C>T	uc010fwg.3	+	39	9595	c.9595C>T	c.(9595-9597)Ctc>Ttc	p.L3199F		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	3199	Protein kinase 2.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCGAAAGGTTCTCTCTGTACA	0.617000														40			16		0	0	0.000566183	0	0
PRKACG	5568	broad.mit.edu	37	9	71628516	71628516	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:71628516G>A	uc004agy.3	-	0	524	c.493C>T	c.(493-495)Cac>Tac	p.H165Y		NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.	165	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGTCGCGGTGGATGAGGTCG	0.632000														11			7		0	0	0.000157383	0	0
NKAPL	222698	broad.mit.edu	37	6	28227309	28227310	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:28227309_28227310CC>TT	uc003nkt.3	+	0	212_213	c.160_161CC>TT	c.(160-162)cct>TTt	p.P54F	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	54										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						CCTCAGGCCTCCTTGGAGTGAG	0.653000														52			22		0	0	6.4e-05	0	0
TMTC3	160418	broad.mit.edu	37	12	88586521	88586521	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:88586521C>T	uc001tau.3	+	12	2067	c.1847C>T	c.(1846-1848)gCc>gTc	p.A616V		NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	616						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCAAATGAAGCCCTAAAAAAC	0.343000														80			33		0	0	0.00283554	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398619	57398619	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:57398619G>A	uc001sml.2	-	1	236	c.83C>T	c.(82-84)aCc>aTc	p.T28I	ZBTB39_uc021qzg.1_Missense_Mutation_p.T28I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GTCGCACATGGTCTCTGAGAG	0.562000														90			51		0	0	0.000781405	0	0
GREM2	64388	broad.mit.edu	37	1	240656512	240656512	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:240656512C>T	uc021plf.1	-	0	264	c.264G>A	c.(262-264)cgG>cgA	p.R88R	GREM2_uc001hys.3_Silent_p.R88R	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	88	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TGGTGCGGCTCCGGCAGCCCT	0.647000														39			13		0	0	0.000308642	0	0
CD53	963	broad.mit.edu	37	1	111441775	111441775	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:111441775G>A	uc001dzw.3	+	8	789	c.618G>A	c.(616-618)ctG>ctA	p.L206L	CD53_uc001dzx.3_Silent_p.L206L|CD53_uc010owa.2_Silent_p.L147L	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	206					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CACTGACCCTGAACTGCCAGA	0.443000														52			19		0	0	0.00047179	0	0
BMPER	168667	broad.mit.edu	37	7	34192725	34192725	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:34192725C>T	uc011kap.2	+	15	2272	c.1898C>T	c.(1897-1899)gCt>gTt	p.A633V		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	633	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAGCATGGTGCTGTGTACGAT	0.507000														58			47		0	0	0.000781405	0	0
AKAP3	10566	broad.mit.edu	37	12	4747274	4747274	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:4747274C>T	uc001qnb.4	-	2	333	c.89G>A	c.(88-90)tGg>tAg	p.W30*		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	30					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.W30L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TACCATTTTCCAGTCCTGGGC	0.443000														201			92		0	0	0.000781405	0	0
PPARG	5468	broad.mit.edu	37	3	12421374	12421374	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:12421374G>A	uc003bwx.3	+	1	345	c.254G>A	c.(253-255)aGa>aAa	p.R85K	PPARG_uc003bwr.3_Missense_Mutation_p.R57K|PPARG_uc003bws.3_Missense_Mutation_p.R57K|PPARG_uc003bwu.3_Missense_Mutation_p.R57K|PPARG_uc003bwv.3_Missense_Mutation_p.R57K|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.R57K|PPARG_uc003bww.1_Missense_Mutation_p.R85K	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	85					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CCATTCACAAGAACAGATCCA	0.393000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""							182			179		0	0	0.000781405	0	0
abParts	0	broad.mit.edu	37	14	106790942	106790942	+	RNA	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:106790942C>T	uc021ser.1	-	620		c.17450G>A								Parts of antibodies, mostly variable regions.																		CCGCTGATTTCCCGCCAGCGT	0.587000														142			21		0	0	0.00278032	0	0
RYR3	6263	broad.mit.edu	37	15	33993274	33993274	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:33993274T>G	uc001zhi.3	+	41	6546	c.6476T>G	c.(6475-6477)cTc>cGc	p.L2159R	RYR3_uc010bar.3_Missense_Mutation_p.L2159R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2159	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACCAGACCTCGAGAAGGTA	0.567000											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		8			7		0	0	0.000274275	0	0
CDK16	5127	broad.mit.edu	37	X	47083085	47083085	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:47083085C>T	uc011mli.2	+	1	671	c.147C>T	c.(145-147)gaC>gaT	p.D49D	CDK16_uc011mlj.2_Silent_p.D43D|CDK16_uc004dho.3_Silent_p.D43D|CDK16_uc011mlk.2_Silent_p.D43D|CDK16_uc011mll.2_Silent_p.D117D	NM_033018	NP_006192	Q00536	CDK16_HUMAN	Homo sapiens cyclin-dependent kinase 16 (CDK16), transcript variant 2, mRNA.	43							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GCGGCAGTGACCCTGGAGAGG	0.632000														19			9		0	0	0.000442599	0	0
CDH6	1004	broad.mit.edu	37	5	31267675	31267675	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:31267675C>A	uc003jhe.2	+	1	455	c.95C>A	c.(94-96)cCa>cAa	p.P32Q	CDH6_uc003jhd.2_Missense_Mutation_p.P32Q	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	32					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGTGGTTTCCCAGCAAAGAAA	0.488000														56			34		8.73648e-17	4.12212e-16	0.000814825	1	0
PCDH12	51294	broad.mit.edu	37	5	141336315	141336315	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:141336315G>A	uc003llx.3	-	0	2313	c.1102C>T	c.(1102-1104)Ccc>Tcc	p.P368S		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	368	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCCTTGGGAAGAGCTTCT	0.507000														49			42		0	0	0.00222228	0	0
ADAMTS17	170691	broad.mit.edu	37	15	100537734	100537734	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:100537734C>T	uc002bvv.1	-	18	2731	c.2652G>A	c.(2650-2652)cgG>cgA	p.R884R		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	884	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGGTCACCTCCCGGTGCTGGA	0.677000														22			30		0	0	0.00209593	0	0
ABCC12	94160	broad.mit.edu	37	16	48177954	48177954	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:48177954C>T	uc002efc.1	-	1	488	c.142G>A	c.(142-144)Gat>Aat	p.D48N	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.D48N|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	48						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGCCCGGCATCATCCACCGGG	0.567000														28			13		0	0	0.000422831	0	0
KLK5	25818	broad.mit.edu	37	19	51446990	51446990	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:51446990G>A	uc002pue.3	-	6	997	c.779C>T	c.(778-780)tCc>tTc	p.S260F	KLK5_uc002puf.3_Missense_Mutation_p.S260F|KLK5_uc002pug.3_Missense_Mutation_p.S260F	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	260	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ATCTCCCCAGGACACGAGTCC	0.592000														40			23		0	0	0.00229938	0	0
OR10K1	391109	broad.mit.edu	37	1	158436017	158436017	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:158436017C>T	uc010pij.2	+	0	666	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I222I(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCGCATCATCTCTGCCATTC	0.478000														58			27		0	0	0.000586117	0	0
PITPNM1	9600	broad.mit.edu	37	11	67266146	67266146	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:67266146G>A	uc001olx.3	-	8	1594	c.1405C>T	c.(1405-1407)Cct>Tct	p.P469S	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.P469S|PITPNM1_uc001olz.3_Missense_Mutation_p.P469S	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	469					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						AAGGCCTCAGGGAAGTGGATG	0.662000														56			5		0	0	0.000602214	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481160	142481160	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:142481160C>T	uc011ksq.2	+	2	317	c.234C>T	c.(232-234)atC>atT	p.I78I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		AGCACAATATCGAAGTCCTGG	0.522000														10			45		0	0	0.000781405	0	0
SETD1A	9739	broad.mit.edu	37	16	30976109	30976109	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:30976109C>T	uc002ead.1	+	6	1732	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	349	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						tcgtcctcctcgtcatcctct	0.567000														97			80		0	0	0.000781405	0	0
AGXT2	64902	broad.mit.edu	37	5	35040730	35040730	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:35040730G>A	uc003jjf.3	-	1	370	c.127C>T	c.(127-129)Cat>Tat	p.H43Y	AGXT2_uc011com.2_Missense_Mutation_p.H43Y|AGXT2_uc011con.2_Intron|AGXT2_uc021xxk.1_Missense_Mutation_p.H42Y	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	43					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGCTTTGTATGAAGACTGAGC	0.438000														103			56		0	0	0.000781405	0	0
ZNF679	168417	broad.mit.edu	37	7	63720662	63720662	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:63720662C>T	uc003tsx.3	+	2	372	c.103C>T	c.(103-105)Cac>Tac	p.H35Y		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						ATGCCTGGATCACGCTCAGCA	0.383000														49			25		0	0	0.000720815	0	0
MEGF8	1954	broad.mit.edu	37	19	42839497	42839497	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:42839497C>T	uc002otl.4	+	4	1423	c.788C>T	c.(787-789)tCc>tTc	p.S263F	MEGF8_uc002otm.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	263						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TACAACTTCTCCGCCAACACC	0.627000														65			24		0	0	0.00106085	0	0
C14orf49	161176	broad.mit.edu	37	14	95899695	95899695	+	Missense_Mutation	SNP	G	A	A	rs141951711		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:95899695G>A	uc001yei.4	-	14	2605	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	C14orf49_uc010avi.3_Missense_Mutation_p.R859C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	864			R -> H (in dbSNP:rs17092216).		cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGCCCGAGACGAAGGAGGTTC	0.597000														78			33		0	0	0.000692331	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801921	185801921	+	Nonsense_Mutation	SNP	A	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:185801921A>T	uc002uph.3	+	3	2392	c.1798A>T	c.(1798-1800)Aaa>Taa	p.K600*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	600			K -> R (in dbSNP:rs35925696).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAAAAAAAGAAAAAAGTTATG	0.328000														89			52		0	0	0.000781405	0	0
NKD1	85407	broad.mit.edu	37	16	50664200	50664200	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:50664200C>T	uc002egg.2	+	6	790	c.566C>T	c.(565-567)cCc>cTc	p.P189L		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	189	Interaction with DVL1, DVL2 and DVL3 (By similarity).				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACCGTGGCCCCCGATGGCAGC	0.582000														18			21		0	0	0.000586117	0	0
NLRP2	55655	broad.mit.edu	37	19	55505685	55505685	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:55505685G>A	uc021vbq.1	+	10	2868	c.2757G>A	c.(2755-2757)aaG>aaA	p.K919K	NLRP2_uc010yfp.2_Silent_p.K896K|NLRP2_uc002qij.3_Silent_p.K919K|NLRP2_uc010esp.3_Silent_p.K897K|NLRP2_uc010esn.3_Silent_p.K895K|NLRP2_uc010eso.3_Silent_p.K916K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	919					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ATCTCACAAAGCTTCTCCAAG	0.468000														109			36		0	0	0.00148497	0	0
TMEM131	23505	broad.mit.edu	37	2	98382998	98382998	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:98382998G>A	uc002syh.4	-	33	4745	c.4516C>T	c.(4516-4518)Cct>Tct	p.P1506S		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1506						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GTTGGAAGAGGAATCTTGCTT	0.383000														97			32		0	0	0.0024448	0	0
PCDHB18	54660	broad.mit.edu	37	5	140615806	140615806	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140615806C>T	uc003ljc.1	+	0	1869	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F						Homo sapiens protocadherin beta 18 pseudogene (PCDHB18), non-coding RNA.											endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						ACTCGCCCTTCGTGCTGTACC	0.716000														22			18		0	0	0.00229938	0	0
FLT3	2322	broad.mit.edu	37	13	28588626	28588626	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:28588626G>A	uc001urw.3	-	22	2904	c.2822C>T	c.(2821-2823)tCg>tTg	p.S941L	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.S900L	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	941	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TCCTAAAAACGAAGTCAAATT	0.388000			"""Mis, O"""		"""AML, ALL"""									48			23		0	0	0.000586117	0	0
VWA5A	4013	broad.mit.edu	37	11	124016027	124016027	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:124016027G>A	uc001pzu.3	+	17	2447	c.2238G>A	c.(2236-2238)gaG>gaA	p.E746E	VWA5A_uc001pzt.3_Silent_p.E746E	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	746										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GTGAATGGGAGCTTCTGGAAA	0.582000														29			24		0	0	0.00047179	0	0
USP28	57646	broad.mit.edu	37	11	113677220	113677220	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:113677220C>T	uc001poh.3	-	18	2424	c.2391G>A	c.(2389-2391)ggG>ggA	p.G797G	USP28_uc001pog.3_Intron|USP28_uc010rwy.2_Intron|USP28_uc001poi.3_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	797					DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|cell proliferation|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CCTTAATCAGCCCTGCTTCAG	0.438000														25			25		0	0	0.00106085	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19409926	19409926	+	RNA	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:19409926C>T	uc010tcj.1	-	0		c.36184G>A								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		TTTTCTTGTACCttttttttt	0.368000														28			7		0	0	0.00198382	0	0
NKAIN2	154215	broad.mit.edu	37	6	124604234	124604234	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:124604234C>T	uc003pzo.3	+	1	415	c.138C>T	c.(136-138)atC>atT	p.I46I	NKAIN2_uc003pzn.1_Silent_p.I46I|NKAIN2_uc010keq.3_Silent_p.I46I|NKAIN2_uc003pzp.3_Silent_p.I45I|NKAIN2_uc010ker.3_5'UTR|NKAIN2_uc010kep.1_Non-coding_Transcript	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	46						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATATTATTATCGTCATTCTTG	0.348000														61			27		0	0	0.00106085	0	0
STAC3	246329	broad.mit.edu	37	12	57640632	57640632	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:57640632G>A	uc001snp.2	-	5	760	c.558C>T	c.(556-558)atC>atT	p.I186I	STAC3_uc009zpl.2_5'UTR|STAC3_uc001snq.2_Silent_p.I147I|STAC3_uc010srm.1_5'UTR	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	186					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						TGTTTGCCATGATCACCCCAG	0.507000														117			74		0	0	0.000781405	0	0
TMEM43	79188	broad.mit.edu	37	3	14174406	14174406	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:14174406C>T	uc003byk.2	+	5	737	c.483C>T	c.(481-483)ttC>ttT	p.F161F	TMEM43_uc003byl.1_Silent_p.F41F	NM_024334	NP_077310	Q9BTV4	TMM43_HUMAN	Homo sapiens transmembrane protein 43 (TMEM43), mRNA.	161						Golgi apparatus|endoplasmic reticulum|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						GCAAAAACTTCGACCGAGAGA	0.547000														14			17		0	0	0.000566183	0	0
LAMA3	3909	broad.mit.edu	37	18	21444815	21444815	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:21444815C>T	uc002kuq.3	+	35	4737	c.4651C>T	c.(4651-4653)Ctt>Ttt	p.L1551F	LAMA3_uc002kur.3_Missense_Mutation_p.L1551F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1551	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGACATGGTTCTTCTGGAAAA	0.453000														64			35		0	0	0.00170553	0	0
MUC17	140453	broad.mit.edu	37	7	100687013	100687014	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:100687013_100687014CC>TT	uc003uxp.1	+	2	12369_12370	c.12316_12317CC>TT	c.(12316-12318)ccc>TTc	p.P4106F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4106						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCCTTCCCCACGGTGACC	0.535000														46			26		0	0	6.4e-05	0	0
BLM	641	broad.mit.edu	37	15	91312735	91312736	+	Missense_Mutation	DNP	CG	AT	AT	rs147587050	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:91312735_91312736CG>AT	uc002bpr.3	+	11	2571_2572	c.2474_2475CG>AT	c.(2473-2475)ccg>cAT	p.P825H	BLM_uc010uqh.2_Missense_Mutation_p.P825H|BLM_uc010uqi.2_Missense_Mutation_p.P450H|BLM_uc010bnx.3_Missense_Mutation_p.P825H	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	825	Helicase ATP-binding.				G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|double-strand break repair via homologous recombination|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	PML body|cytoplasm|lateral element|nuclear matrix|nucleolus	ATP binding|DNA strand annealing activity|G-quadruplex DNA binding|bubble DNA binding|four-way junction helicase activity|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCTTCTGTTCCGGTGATGGCTC	0.446000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome					698			9		0	0	6.4e-05	0	0
P2RX6	9127	broad.mit.edu	37	22	21377588	21377588	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr22:21377588C>T	uc010gsu.1	+	6	663	c.663C>T	c.(661-663)gaC>gaT	p.D221D	P2RX6_uc002ztz.2_Silent_p.D195D|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	221					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGACCTGGGACCCCACCTATT	0.582000														120			50		0	0	0.000781405	0	0
MACF1	23499	broad.mit.edu	37	1	39753029	39753029	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:39753029T>C	uc021olt.1	+	13	1647	c.1595T>C	c.(1594-1596)tTc>tCc	p.F532S	MACF1_uc021ols.1_Missense_Mutation_p.F532S|MACF1_uc001cdc.2_Missense_Mutation_p.F532S|MACF1_uc001cda.1_Missense_Mutation_p.F440S	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	532					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAGGGTCATTTCACTTCACTT	0.463000														139			54		0	0	0.000781405	0	0
ERMAP	114625	broad.mit.edu	37	1	43296721	43296721	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:43296721C>G	uc001cic.1	+	3	638	c.368C>G	c.(367-369)tCt>tGt	p.S123C	ERMAP_uc010ojw.1_Missense_Mutation_p.S184C|ERMAP_uc001cid.1_Intron|ERMAP_uc001cie.1_Missense_Mutation_p.S123C|ERMAP_uc001cif.1_Missense_Mutation_p.S33C	NM_001017922	NP_061008	Q96PL5	ERMAP_HUMAN	Homo sapiens erythroblast membrane-associated protein (Scianna blood group) (ERMAP), transcript variant 1, mRNA.	123	Ig-like V-type.		Missing (in Sc-3 allele).			integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GACCAAGGGTCTTACCGATGT	0.522000														33			15		0	0	0.000422831	0	0
PIAS2	9063	broad.mit.edu	37	18	44426691	44426691	+	Silent	SNP	A	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:44426691A>C	uc002lck.3	-	5	1027	c.840T>G	c.(838-840)tcT>tcG	p.S280S	PIAS2_uc010dnp.3_5'UTR|PIAS2_uc010xda.2_5'UTR|PIAS2_uc002lcl.3_Silent_p.S280S|PIAS2_uc002lcm.3_Silent_p.S280S|PIAS2_uc002lcn.1_Silent_p.S284S	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	280	PINIT.				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTGATGCCCAAGAAATGGAAA	0.448000														73			24		0	0	0.00278032	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6425066	6425066	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:6425066G>A	uc001qnr.3	+	5	735	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	PLEKHG6_uc001qns.3_Missense_Mutation_p.R196Q|PLEKHG6_uc010sew.2_Missense_Mutation_p.R196Q|PLEKHG6_uc010sex.2_Missense_Mutation_p.R164Q	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	196	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AACCTGCAGCGAGTGGGACTG	0.677000														4			5		0	0	0.00116845	0	0
CXCR2P1	3580	broad.mit.edu	37	2	218925402	218925402	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:218925402C>T	uc002vgx.3	-	0	612	c.319G>A	c.(319-321)Gga>Aga	p.G107R	RUFY4_uc002vgw.3_Intron					Homo sapiens chemokine (C-X-C motif) receptor 2 pseudogene 1 (CXCR2P1), non-coding RNA.																		CCACATGGTCCAGTGCTTCTG	0.557000														48			9		0	0	0.000978159	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252092	26252092	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:26252092G>A	uc003nhh.3	+	0	214	c.214G>A	c.(214-216)Gag>Aag	p.E72K	HIST1H3F_uc003nhg.1_5'Flank	NM_003524	NP_003515	Q93079	H2B1H_HUMAN	Homo sapiens histone cluster 1, H2bh (HIST1H2BH), mRNA.	72					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CGATATCTTCGAGCGCATCGC	0.577000														91			39		0	0	0.00111076	0	0
CACNA1F	778	broad.mit.edu	37	X	49069183	49069183	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:49069183G>A	uc004dnb.3	-	32	3981	c.3919C>T	c.(3919-3921)Ctc>Ttc	p.L1307F	CACNA1F_uc010nip.3_Missense_Mutation_p.L1296F	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1307					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCCTTACTGAGAAGCTTGACC	0.542000														24			15		0	0	0.000422831	0	0
FLNC	2318	broad.mit.edu	37	7	128485029	128485029	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:128485029C>T	uc003vnz.4	+	20	3719	c.3510C>T	c.(3508-3510)gtC>gtT	p.V1170V	FLNC_uc003voa.4_Silent_p.V1170V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1170					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCGGCAAGGTCGGTGAGGCAG	0.657000														58			11		0	0	0.000978159	0	0
ADAM32	203102	broad.mit.edu	37	8	39089651	39089651	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:39089651G>A	uc003xmt.4	+	14	1876	c.1631G>A	c.(1630-1632)tGg>tAg	p.W544*	ADAM32_uc011lch.2_Nonsense_Mutation_p.W445*|ADAM32_uc003xmu.4_Nonsense_Mutation_p.W438*|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	544					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTCTGTGGATGGAGGTATGCT	0.338000														67			34		0	0	0.00058488	0	0
SSTR1	6751	broad.mit.edu	37	14	38678615	38678615	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:38678615C>T	uc021rsi.1	+	0	21	c.21C>T	c.(19-21)gcC>gcT	p.A7A	SSTR1_uc001wul.1_Silent_p.A7A	NM_001049	NP_001040	P30872	SSR1_HUMAN	Homo sapiens somatostatin receptor 1 (SSTR1), mRNA.	7					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	ATGGCACCGCCTCCTCTCCTT	0.756000														7			6		0	0	0.000274275	0	0
HTR2B	3357	broad.mit.edu	37	2	231973942	231973942	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:231973942C>T	uc002vro.3	-	3	1240	c.735G>A	c.(733-735)caG>caA	p.Q245Q	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Silent_p.Q178Q	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	245					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	AAGCCTTCTTCTGTAAAGCAT	0.448000														60			24		0	0	0.00229938	0	0
PRDM2	7799	broad.mit.edu	37	1	14107476	14107476	+	Silent	SNP	T	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:14107476T>G	uc001avi.3	+	7	4042	c.3186T>G	c.(3184-3186)tcT>tcG	p.S1062S	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Silent_p.S1062S|PRDM2_uc001avk.3_Silent_p.S861S|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	1062	Poly-Ser.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		cctcctcctcttcgttttctt	0.537000														18			9		0	0	0.000274275	0	0
ZNRF4	148066	broad.mit.edu	37	19	5455836	5455836	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:5455836G>A	uc002mca.4	+	0	411	c.334G>A	c.(334-336)Gac>Aac	p.D112N		NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN	Homo sapiens zinc and ring finger 4 (ZNRF4), mRNA.	112						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GAGCTCGGTGGACTTTGCGGA	0.662000														30			43		0	0	0.000781405	0	0
KDR	3791	broad.mit.edu	37	4	55956161	55956161	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:55956161C>T	uc003has.3	-	22	3456	c.3154G>A	c.(3154-3156)Gat>Aat	p.D1052N	KDR_uc003hat.1_Missense_Mutation_p.D1052N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1052	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1051Q(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTATAAATATCCCGGGCCAAG	0.408000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				59			27		0	0	0.00106085	0	0
PRSS16	10279	broad.mit.edu	37	6	27215814	27215814	+	Missense_Mutation	SNP	G	A	A	rs150849072	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:27215814G>A	uc003nja.3	+	1	239	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.R75Q|PRSS16_uc003njc.1_5'Flank|PRSS16_uc010jqq.1_5'Flank|PRSS16_uc010jqr.1_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	75					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.R75Q(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCCGACAGACGATCCTTCCTA	0.617000														34			8		0	0	0.000157383	0	0
ZFR	51663	broad.mit.edu	37	5	32400223	32400223	+	Silent	SNP	A	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:32400223A>C	uc003jhr.1	-	8	1682	c.1602T>G	c.(1600-1602)gcT>gcG	p.A534A		NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	534					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GAATCTGCACAGCAGAAGTGA	0.433000														47			11		0	0	0.000978159	0	0
SCN7A	6332	broad.mit.edu	37	2	167273342	167273342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:167273342G>A	uc002udu.2	-	19	3419	c.3289C>T	c.(3289-3291)Cct>Tct	p.P1097S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1097					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TCAGATGAAGGAAACCTTTCT	0.388000														19			11		0	0	0.000978159	0	0
SEPT6	23157	broad.mit.edu	37	X	118783980	118783980	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:118783980C>T	uc004erv.3	-	4	875	c.610G>A	c.(610-612)Gag>Aag	p.E204K	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Missense_Mutation_p.E204K|SEPT6_uc004ert.3_Missense_Mutation_p.E204K|SEPT6_uc004eru.3_Missense_Mutation_p.E204K|SEPT6_uc004erw.3_Missense_Mutation_p.E146K|SEPT6_uc011mtv.1_Missense_Mutation_p.E146K|SEPT6_uc011mtw.1_Missense_Mutation_p.E234K	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	204					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTGACAAGCTCGCTGGTGATT	0.473000			T	MLL	AML									144			65		0	0	0.000781405	0	0
MAT2A	4144	broad.mit.edu	37	2	85770138	85770138	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:85770138C>T	uc002spr.3	+	7	1376	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	MAT2A_uc010ysr.2_Missense_Mutation_p.R356C|MAT2A_uc010fgl.2_Missense_Mutation_p.R293C	NM_005911	NP_005902	P31153	METK2_HUMAN	Homo sapiens methionine adenosyltransferase II, alpha (MAT2A), mRNA.	356					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TTTCGATCTCCGCCCTGGGGT	0.428000														50			35		0	0	0.000814825	0	0
ABCA13	154664	broad.mit.edu	37	7	48269424	48269424	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:48269424C>T	uc003toq.2	+	6	659	c.635C>T	c.(634-636)tCc>tTc	p.S212F	ABCA13_uc003top.2_3'UTR|ABCA13_uc010kyr.2_5'UTR	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	212					transport	integral to membrane	ATP binding|ATPase activity	p.V211V(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTTCTAGTTCCTTAATATCC	0.388000														87			73		0	0	0.000781405	0	0
FAM83B	222584	broad.mit.edu	37	6	54805208	54805208	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:54805208G>A	uc003pck.3	+	4	1555	c.1439G>A	c.(1438-1440)cGa>cAa	p.R480Q		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	480										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAACAACGAATGCCAACC	0.413000														41			22		0	0	0.00188189	0	0
SLC5A6	8884	broad.mit.edu	37	2	27424713	27424713	+	Silent	SNP	A	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:27424713A>C	uc010eyv.1	-	14	1687	c.1365T>G	c.(1363-1365)ggT>ggG	p.G455G	SLC5A6_uc002rjd.3_Silent_p.G455G	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	455					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CCACAACAGCACCCTGCCGAG	0.642000														15			6		0	0	0.000442599	0	0
FCRL1	115350	broad.mit.edu	37	1	157771776	157771776	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:157771776C>T	uc001frg.3	-	4	928	c.815G>A	c.(814-816)gGa>gAa	p.G272E	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Missense_Mutation_p.G272E|FCRL1_uc001fri.3_Missense_Mutation_p.G272E|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	272	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGAGTAGTTTCCAGAATGTTC	0.557000														62			25		0	0	0.000586117	0	0
TP53	7157	broad.mit.edu	37	17	7579329	7579329	+	Missense_Mutation	SNP	T	C	C	rs121912658		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:7579329T>C	uc002gim.2	-	3	552	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_uc002gig.1_Missense_Mutation_p.K120E|TP53_uc002gih.3_Missense_Mutation_p.K120E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.K120E|TP53_uc010cnh.1_Missense_Mutation_p.K120E|TP53_uc002gij.2_Missense_Mutation_p.K120E|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.K81E|TP53_uc010cnk.1_Missense_Mutation_p.K135E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120E(6)|p.K120M(5)|p.K120*(4)|p.A119A(3)|p.K120fs*3(3)|p.G59fs*23(3)|p.K120R(2)|p.G105_T125del21(2)|p.G112_V122delGFLHSGTAKSV(2)|p.K120Q(2)|p.V73fs*9(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.K120N(1)|p.A119fs*5(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTCACAGACTTGGCTGTCCCA	0.562000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				32			34		0	0	0.00058488	0	0
OR4C46	119749	broad.mit.edu	37	11	51515428	51515428	+	Silent	SNP	C	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:51515428C>A	uc010ric.2	+	0	147	c.147C>A	c.(145-147)gcC>gcA	p.A49A		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATCACTGCCAGCCCATCAC	0.448000														151			13		6.72482e-11	3.15262e-10	0.000308642	1	0
LYRM5	144363	broad.mit.edu	37	12	25357093	25357093	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:25357093C>T	uc001rgn.3	+	2	279	c.120C>T	c.(118-120)ttC>ttT	p.F40F	LYRM5_uc001rgo.3_Silent_p.F38F	NM_001001660	NP_001001660	Q6IPR1	LYRM5_HUMAN	Homo sapiens LYR motif containing 5 (LYRM5), mRNA.	38										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			AGAACATTTTCCTTAAAAACA	0.338000														37			24		0	0	0.00229938	0	0
CLTC	1213	broad.mit.edu	37	17	57760513	57760513	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:57760513C>G	uc002ixr.1	+	24	4386	c.3943C>G	c.(3943-3945)Cga>Gga	p.R1315G	CLTC_uc002ixp.3_Missense_Mutation_p.R1311G|CLTC_uc002ixq.1_Missense_Mutation_p.R1311G	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	1311	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GGGACTTGAGCGAGCTCACAT	0.418000			T	"""ALK, TFE3"""	"""ALCL, renal """									23			29		0	0	0.001512	0	0
LOC442459	442459	broad.mit.edu	37	X	98975264	98975264	+	RNA	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:98975264C>T	uc011mrd.1	-	7		c.1079G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		TATTAAATTTCCGGGACTTGG	0.433000														32			22		0	0	0.000586117	0	0
PRKCI	5584	broad.mit.edu	37	3	169999014	169999014	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:169999014C>T	uc003fgs.2	+	9	1181	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F		NM_002740	NP_002731	P41743	KPCI_HUMAN	Homo sapiens protein kinase C, iota (PRKCI), mRNA.	315	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCATCCTTTCCTTGTTGGGCT	0.363000														38			27		0	0	0.000878237	0	0
GPC5	2262	broad.mit.edu	37	13	92345753	92345753	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:92345753G>A	uc010tif.2	+	2	1004	c.638G>A	c.(637-639)gGa>gAa	p.G213E		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	213						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAGTAATGGGACAGATGGGG	0.517000														25			18		0	0	0.00074312	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021085	142021085	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:142021085G>A	uc011krr.1	+	1	250	c.65G>A	c.(64-66)gGa>gAa	p.G22E	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krq.1_Missense_Mutation_p.G22E					SubName: Full=V_segment translation product; Flags: Fragment;																		GTAAAGGCTGGAGTCACTCAA	0.532000														41			5		0	0	0.00198382	0	0
CEP104	9731	broad.mit.edu	37	1	3742397	3742397	+	Silent	SNP	G	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:3742397G>T	uc001aky.2	-	17	2648	c.2289C>A	c.(2287-2289)tcC>tcA	p.S763S	CEP104_uc010nzm.1_Non-coding_Transcript	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	763						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						CCTCTGTGAAGGATTCACTCC	0.498000														63			26		1.08312e-15	5.0995e-15	0.00178596	1	0
BMP2	650	broad.mit.edu	37	20	6759224	6759224	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:6759224G>A	uc002wmu.1	+	2	1464	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	227					BMP signaling pathway involved in heart induction|SMAD protein signal transduction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|SMAD binding|activin receptor activity, type II|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|transforming growth factor beta receptor binding	p.F226F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	CCATGGATTCGTGGTGGAAGT	0.522000														21			6		0	0	0.00116845	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43887025	43887025	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:43887025C>T	uc010skx.2	-	4	899	c.899G>A	c.(898-900)gGa>gAa	p.G300E		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	300	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TATCAAATTTCCAATACTTGG	0.289000														11			3		0	0	6.4e-05	0	0
PRKX	5613	broad.mit.edu	37	X	3530319	3530319	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:3530319G>A	uc010nde.3	-	7	1380	c.999C>T	c.(997-999)ttC>ttT	p.F333F		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	333	AGC-kinase C-terminal.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				GGTAAGTTTCGAAGTTGGAAG	0.527000														29			14		0	0	0.000308642	0	0
RTL1	388015	broad.mit.edu	37	14	101351047	101351047	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:101351047C>T	uc010txj.1	-	0	138	c.79G>A	c.(79-81)Gag>Aag	p.E27K	MIR136_uc010txk.1_Non-coding_Transcript	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	27										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GATGAGCCCTCGGAGGACTCC	0.567000														26			8		0	0	0.000157383	0	0
RIN3	79890	broad.mit.edu	37	14	93118452	93118452	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:93118452C>T	uc001yap.3	+	5	1210	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	RIN3_uc010auk.3_Missense_Mutation_p.P15L|RIN3_uc001yaq.3_Missense_Mutation_p.P278L|RIN3_uc001yar.1_Missense_Mutation_p.P15L|RIN3_uc001yas.1_Missense_Mutation_p.P15L	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	353	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.P353P(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGCCTGGGCCCCCTCAGGGAG	0.682000														25			13		0	0	0.00244969	0	0
FANCM	57697	broad.mit.edu	37	14	45645573	45645573	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:45645573C>T	uc001wwd.4	+	13	3715	c.3616C>T	c.(3616-3618)Cag>Tag	p.Q1206*	FANCM_uc010anf.3_Nonsense_Mutation_p.Q1180*|FANCM_uc001wwe.4_Nonsense_Mutation_p.Q742*|FANCM_uc010ang.3_Nonsense_Mutation_p.Q420*	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1206					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						ATCTCGTGATCAGAGAGGTGT	0.353000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					55			25		0	0	0.000586117	0	0
CDH20	28316	broad.mit.edu	37	18	59206330	59206330	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:59206330C>T	uc010dps.1	+	7	1634	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	CDH20_uc002lif.2_Silent_p.F488F	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	494	Cadherin 4.|Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F494L(2)		breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				CTCCAGAGTTCCCCAGATTCT	0.473000														92			52		0	0	0.000781405	0	0
HSPE1-MOB4	100529241	broad.mit.edu	37	2	198365916	198365916	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:198365916T>C	uc021vum.1	+	1	562	c.122T>C	c.(121-123)gTa>gCa	p.V41A	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.V41A	NM_001202485	NP_001189414			Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.																		CAAGGAAAAGTATTGCAAGCA	0.423000														24			11		0	0	0.000673444	0	0
GMPR	2766	broad.mit.edu	37	6	16254963	16254963	+	Silent	SNP	T	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:16254963T>C	uc003nbs.3	+	3	576	c.462T>C	c.(460-462)atT>atC	p.I154I		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	154					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AACACACCATTATGGTAAGTA	0.453000														59			40		0	0	0.00285205	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579362	140579362	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140579362G>A	uc003liy.3	+	0	15	c.15G>A	c.(13-15)ggG>ggA	p.G5G		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	5					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAACCAAGGGACACGCACTC	0.498000														15			17		0	0	0.000566183	0	0
MYL3	4634	broad.mit.edu	37	3	46904827	46904827	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:46904827C>T	uc003cql.1	-	0	147	c.54G>A	c.(52-54)aaG>aaA	p.K18K		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	18					cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|I band|cytosol|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		CTGGAGCTGCCTTGGGGGCTG	0.582000														22			29		0	0	0.000878237	0	0
LOXL2	4017	broad.mit.edu	37	8	23174479	23174479	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:23174479C>T	uc003xdh.1	-	8	1958	c.1619G>A	c.(1618-1620)gGa>gAa	p.G540E	LOXL2_uc010lty.1_Missense_Mutation_p.G79E	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	540	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.G540R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GCAGGCAACTCCGGCCCCGTA	0.662000														25			10		0	0	0.000673444	0	0
SOWAHA	134548	broad.mit.edu	37	5	132150952	132150952	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:132150952C>A	uc003kxw.3	+	0	1920	c.1639C>A	c.(1639-1641)Cca>Aca	p.P547T		NM_175873	NP_787069	Q2M3V2	ANR43_HUMAN	Homo sapiens sosondowah ankyrin repeat domain family member A (SOWAHA), mRNA.	547																	CAGTTTTCCTCCAACAACCTG	0.567000														8			13		2.62699e-14	1.23418e-13	0.000308642	1	0
LPA	4018	broad.mit.edu	37	6	161071527	161071527	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:161071527C>T	uc003qtl.3	-	2	172	c.52G>A	c.(52-54)Gca>Aca	p.A18T		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	2526					blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCTCAGGTGCTGCTAAAATT	0.423000														108			52		0	0	0.000781405	0	0
SLC9A7	84679	broad.mit.edu	37	X	46532037	46532037	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:46532037G>A	uc004dgu.1	-	3	637	c.629C>T	c.(628-630)tCt>tTt	p.S210F	SLC9A7_uc004dgv.1_Missense_Mutation_p.S210F	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	210					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GGCCAGTATAGATCCAAGATT	0.358000														88			34		0	0	0.00128727	0	0
AFF2	2334	broad.mit.edu	37	X	148044401	148044401	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:148044401C>T	uc004fcp.3	+	12	3326	c.2847C>T	c.(2845-2847)atC>atT	p.I949I	AFF2_uc004fcq.3_Silent_p.I939I|AFF2_uc004fcr.3_Silent_p.I910I|AFF2_uc011mxb.2_Silent_p.I914I|AFF2_uc004fcs.3_Silent_p.I916I|AFF2_uc011mxc.2_Silent_p.I590I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	949					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGACAAATCACATCTACCA	0.433000														39			19		0	0	0.00229938	0	0
CYP3A7	1551	broad.mit.edu	37	7	99258142	99258142	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:99258142C>T	uc003urq.3	-	9	1108	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.D223N|CYP3A7_uc011kiy.2_Missense_Mutation_p.D326N|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	336					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAAACTGCATCAATCTCCTTT	0.478000														97			40		0	0	0.00170553	0	0
TTN	7273	broad.mit.edu	37	2	179495596	179495596	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:179495596C>T	uc021vsy.1	-	186	36610	c.36385G>A	c.(36385-36387)Gaa>Aaa	p.E12129K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5824K|TTN_uc021vta.1_Missense_Mutation_p.E5757K|TTN_uc021vtb.1_Missense_Mutation_p.E5632K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13056	Ig-like 80.						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)			TCAGAGATTTCGGTTTCAAAG	0.493000														89			23		0	0	0.00047179	0	0
PNMAL2	57469	broad.mit.edu	37	19	46998608	46998608	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:46998608G>A	uc002pes.2	-	0	562	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_3'UTR	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	39										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		gtcggctgcaggacggcttcg	0.662000														50			38		0	0	0.00148497	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867837	45867838	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:45867837_45867838GG>AA	uc010zxy.1	-	14	2432_2433	c.2350_2351CC>TT	c.(2350-2352)ccc>TTc	p.P784F	ZMYND8_uc010ghq.1_Missense_Mutation_p.P434F|ZMYND8_uc010ghr.1_Missense_Mutation_p.P732F|ZMYND8_uc002xst.1_Missense_Mutation_p.P685F|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.P685F|ZMYND8_uc002xsw.1_Missense_Mutation_p.P509F|ZMYND8_uc002xsx.1_Missense_Mutation_p.P509F|ZMYND8_uc002xsy.1_Missense_Mutation_p.P732F|ZMYND8_uc002xsz.1_Missense_Mutation_p.P694F|ZMYND8_uc002xta.1_Missense_Mutation_p.P757F|ZMYND8_uc002xtb.1_Missense_Mutation_p.P777F|ZMYND8_uc002xss.2_Missense_Mutation_p.P757F|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.P777F|ZMYND8_uc002xtd.1_Missense_Mutation_p.P752F|ZMYND8_uc002xte.1_Missense_Mutation_p.P757F|ZMYND8_uc010zya.1_Missense_Mutation_p.P757F|ZMYND8_uc002xtf.1_Missense_Mutation_p.P777F|ZMYND8_uc002xtg.3_Missense_Mutation_p.P751F|ZMYND8_uc010ghs.2_Missense_Mutation_p.P751F|ZMYND8_uc002xsr.1_5'UTR	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	757							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			TGTTTCCGGGGGAGAATGGCTG	0.584000														90			33		0	0	6.4e-05	0	0
CER1	9350	broad.mit.edu	37	9	14722582	14722582	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:14722582A>T	uc003zlj.3	-	0	134	c.89T>A	c.(88-90)cTt>cAt	p.L30H		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	30					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TACGGGGGAAAGAGAACTCTG	0.547000														42			18		0	0	0.00121646	0	0
PTPRN2	5799	broad.mit.edu	37	7	157926650	157926650	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:157926650C>T	uc003wno.3	-	8	1396	c.1275G>A	c.(1273-1275)agG>agA	p.R425R	PTPRN2_uc003wnp.3_Silent_p.R408R|PTPRN2_uc003wnq.3_Silent_p.R425R|PTPRN2_uc003wnr.3_Silent_p.R387R|PTPRN2_uc011kwa.2_Silent_p.R448R	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	425						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGGACTTCTTCCTCTCCATGT	0.597000														79			72		0	0	0.000781405	0	0
GFAP	2670	broad.mit.edu	37	17	42992742	42992742	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr17:42992742G>A	uc021tyh.1	-	0	179	c.113C>T	c.(112-114)tCc>tTc	p.S38F	GFAP_uc002ihq.3_Missense_Mutation_p.S38F|GFAP_uc002ihr.3_Missense_Mutation_p.S38F|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	38	Head.					cytoplasm|intermediate filament	structural constituent of cytoskeleton	p.S38F(2)		endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TCGAGCCAGGGAGAGGCGGGT	0.692000														14			15		0	0	0.000308642	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177429	89177429	+	Silent	SNP	G	A	A	rs138727889	byFrequency	TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:89177429G>A	uc022bzr.1	+	0	345	c.345G>A	c.(343-345)caG>caA	p.Q115Q	TGIF2LX_uc004efe.3_Silent_p.Q115Q	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	115						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGCTTCAACAGCGTAGAAACG	0.522000														65			47		0	0	0.000781405	0	0
MAVS	57506	broad.mit.edu	37	20	3844945	3844945	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:3844945C>T	uc002wjw.4	+	5	840	c.668C>T	c.(667-669)cCa>cTa	p.P223L	MAVS_uc002wjx.4_Missense_Mutation_p.P82L|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTGTGTCTCCATCTGTCTCC	0.602000														101			37		0	0	0.0025221	0	0
ABCC8	6833	broad.mit.edu	37	11	17474817	17474818	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:17474817_17474818CC>AA	uc001mnc.3	-	6	1150_1151	c.1024_1025GG>TT	c.(1024-1026)ggg>TTg	p.G342L	ABCC8_uc010rcy.1_Missense_Mutation_p.G341L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	342	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAAGTAAACCCCGAGAAATTGT	0.480000														413			8		0	0	6.4e-05	0	0
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:78211517C>G	uc010bky.2	-	10	1014	c.250G>C	c.(250-252)Gtc>Ctc	p.V84L						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TTGCTCAGGACACTCAAGGCC	0.557000														293			5		0	0	0.00116845	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686135	108686135	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:108686135G>C	uc009zuw.3	-	2	796	c.605C>G	c.(604-606)tCg>tGg	p.S202W	CMKLR1_uc001tmw.3_Missense_Mutation_p.S202W|CMKLR1_uc001tmv.3_Missense_Mutation_p.S200W|CMKLR1_uc009zuv.3_Missense_Mutation_p.S202W|CMKLR1_uc021rdj.1_Missense_Mutation_p.S200W	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	202					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						AGTGGGCCACGAGGAAGACCC	0.567000														63			4		0	0	0.00024832	0	0
MAP3K5	4217	broad.mit.edu	37	6	136934291	136934291	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:136934291G>A	uc003qhc.3	-	16	2743	c.2382C>T	c.(2380-2382)ctC>ctT	p.L794L	MAP3K5_uc011edj.2_Silent_p.L41L|MAP3K5_uc011edk.1_Silent_p.L639L	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	794	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GATTGTCATGGAGATATTTTA	0.373000														55			18		0	0	0.00188189	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995826	19995826	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:19995826G>A	uc002ktv.1	-	0	2053	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	650						integral to membrane		p.P650P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATTTTCAGCGGGGAGAGATGA	0.428000														166			60		0	0	0.000781405	0	0
MED23	9439	broad.mit.edu	37	6	131927666	131927666	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:131927666G>A	uc003qcs.1	-	12	1494	c.1320C>T	c.(1318-1320)aaC>aaT	p.N440N	MED23_uc003qcq.3_Silent_p.N446N|MED23_uc011eca.1_Silent_p.N81N|MED23_uc003qct.1_Silent_p.N446N|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	440					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		GTAGCTTGGAGTTGTCATTTT	0.358000														39			25		0	0	0.000720815	0	0
PCDH15	65217	broad.mit.edu	37	10	55570336	55570336	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr10:55570336C>T	uc021pqw.1	-	34	4887	c.4492G>A	c.(4492-4494)Gaa>Aaa	p.E1498K	PCDH15_uc010qhq.2_Missense_Mutation_p.E1491K|PCDH15_uc010qhr.2_Missense_Mutation_p.E1486K|PCDH15_uc021pqv.1_Silent_p.R1511R|PCDH15_uc010qht.2_Missense_Mutation_p.E1493K|PCDH15_uc021pqx.1_Silent_p.R1509R	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCATATTCTTCCTCAGCTTCA	0.393000										HNSCC(58;0.16)				56			53		0	0	0.000781405	0	0
ZNFX1	57169	broad.mit.edu	37	20	47869279	47869280	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr20:47869279_47869280GG>AA	uc002xui.3	-	11	3440_3441	c.3193_3194CC>TT	c.(3193-3195)ccc>TTc	p.P1065F		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1065							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACGGACAAAGGGAATGTTTACT	0.505000														103			37		0	0	6.4e-05	0	0
SART3	9733	broad.mit.edu	37	12	108917343	108917343	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:108917343G>A	uc001tmz.1	-	18	3018	c.2783C>T	c.(2782-2784)cCt>cTt	p.P928L	SART3_uc001tmy.1_Missense_Mutation_p.P454L|SART3_uc009zux.1_Missense_Mutation_p.P540L|SART3_uc010swx.1_Missense_Mutation_p.P892L	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	928					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTCAGCCTGAGGAGCTGCAGC	0.602000									Porokeratosis					73			33		0	0	0.00178596	0	0
FHOD3	80206	broad.mit.edu	37	18	34081944	34081944	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:34081944C>T	uc021uiv.1	+	3	484	c.387C>T	c.(385-387)tcC>tcT	p.S129S	FHOD3_uc002kzr.1_Silent_p.S129S|FHOD3_uc002kzs.1_Silent_p.S129S|FHOD3_uc002kzt.1_Silent_p.S129S	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CCCTCTTCTCCCTGAAGCAGA	0.338000														8			5		0	0	0.000157383	0	0
AEN	64782	broad.mit.edu	37	15	89172601	89172601	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:89172601C>T	uc002bmt.2	+	2	836	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	AEN_uc010bnm.1_Missense_Mutation_p.R229W	NM_022767	NP_073604	Q8WTP8	AEN_HUMAN	Homo sapiens apoptosis enhancing nuclease (AEN), mRNA.	229	Exonuclease.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|apoptosis|response to ionizing radiation	nucleolus|nucleoplasm	exonuclease activity|nucleic acid binding			NS(1)|kidney(1)|large_intestine(1)|lung(4)	7						CCTCCACACCCGGGCCCGGGT	0.647000														36			44		0	0	0.000781405	0	0
ENOX2	10495	broad.mit.edu	37	X	129804055	129804055	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:129804055G>A	uc004evw.3	-	7	1083	c.665C>T	c.(664-666)gCc>gTc	p.A222V	ENOX2_uc004evx.3_Missense_Mutation_p.A193V|ENOX2_uc004evy.3_Missense_Mutation_p.A193V|ENOX2_uc004evv.3_Missense_Mutation_p.A49V	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	222					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						CTCCTCTCTGGCTAGCATACG	0.502000														76			26		0	0	0.00047179	0	0
A2M	2	broad.mit.edu	37	12	9252104	9252104	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:9252104G>A	uc001qvk.1	-	13	1687	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	A2M_uc009zgk.1_Missense_Mutation_p.S375F	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	525					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GATTGAGATGGAAAAATGGCC	0.433000														9			6		0	0	0.000157383	0	0
KLRC2	3822	broad.mit.edu	37	12	10571034	10571034	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:10571034C>T	uc001qyi.1	-	3	440	c.395G>A	c.(394-396)gGt>gAt	p.G132D	KLRC2_uc001qyf.3_Missense_Mutation_p.G132D|KLRC2_uc021qvc.1_Missense_Mutation_p.G132D|KLRC2_uc001qyh.3_Missense_Mutation_p.G132D|KLRC2_uc021qvd.1_Missense_Mutation_p.G132D	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	132	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TCTTTCCTTACCAATGTAATA	0.368000														93			45		0	0	0.000781405	0	0
RAPSN	5913	broad.mit.edu	37	11	47460343	47460343	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:47460343G>A	uc001nfi.2	-	6	1320	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	RAPSN_uc001nfj.2_Missense_Mutation_p.S310F|RAPSN_uc009yls.1_Missense_Mutation_p.S310F	NM_005055	NP_005046	Q13702	RAPSN_HUMAN	Homo sapiens receptor-associated protein of the synapse (RAPSN), transcript variant 1, mRNA.	369					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						CTCGCCTATGGACTCGCCGCA	0.662000														2			3		0	0	6.4e-05	0	0
BCO2	83875	broad.mit.edu	37	11	112088573	112088573	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:112088573C>T	uc001pnf.3	+	11	1833	c.1716C>T	c.(1714-1716)ttC>ttT	p.F572F	BCO2_uc001png.3_Silent_p.F499F|BCO2_uc001pnh.3_Silent_p.F538F|BCO2_uc010rwt.2_Silent_p.F467F|BCO2_uc009yyn.3_Silent_p.F532F|BCO2_uc001pni.3_Silent_p.F538F	NM_031938	NP_001032367	Q9BYV7	BCDO2_HUMAN	Homo sapiens beta-carotene oxygenase 2 (BCO2), transcript variant 1, mRNA.	572					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTTATGGGTTCCATGGTACCT	0.423000														20			15		0	0	0.000422831	0	0
SLC26A4	5172	broad.mit.edu	37	7	107340578	107340578	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:107340578C>T	uc003vep.3	+	14	1889	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	SLC26A4_uc011kmb.2_Silent_p.F142F|SLC26A4_uc011kmc.2_Silent_p.F116F|SLC26A4_uc011kmd.2_Silent_p.F124F	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	555	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GTCCTATTTTCTATGGCAATG	0.323000									Pendred syndrome					46			22		0	0	0.000586117	0	0
PGK1	5230	broad.mit.edu	37	X	77369647	77369647	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:77369647C>T	uc004ecz.4	+	3	579	c.407C>T	c.(406-408)tCt>tTt	p.S136F	PGK1_uc011mqq.2_Missense_Mutation_p.S108F	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	136					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						AAAGATGCTTCTGGGAACAAG	0.483000														252			148		0	0	0.000781405	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713652	70713652	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr14:70713652C>T	uc010ttg.2	-	0	867	c.216G>A	c.(214-216)gtG>gtA	p.V72V						Homo sapiens ADAM metallopeptidase domain 21 pseudogene 1 (ADAM21P1), non-coding RNA.																		ACATGGAATCCACTATGTTGA	0.368000														46			21		0	0	0.00229938	0	0
SVOPL	136306	broad.mit.edu	37	7	138347878	138347878	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:138347878C>T	uc011kqh.2	-	3	286	c.286G>A	c.(286-288)Ggc>Agc	p.G96S	SVOPL_uc003vue.3_5'UTR	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	96						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						ACCATGTAGCCAAAAAACACC	0.463000														42			36		0	0	0.000692331	0	0
HDAC8	55869	broad.mit.edu	37	X	71684536	71684536	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:71684536G>A	uc004eau.3	-	7	1125	c.783C>T	c.(781-783)gtC>gtT	p.V261V	HDAC8_uc011mqe.2_Silent_p.V118V|HDAC8_uc011mqg.2_Silent_p.V170V|HDAC8_uc011mqf.2_Non-coding_Transcript|HDAC8_uc011mqh.2_Silent_p.V208V|HDAC8_uc010nlk.2_Silent_p.V132V	NM_018486	NP_060956	Q9BY41	HDAC8_HUMAN	Homo sapiens histone deacetylase 8 (HDAC8), transcript variant 1, mRNA.	261	Histone deacetylase.				chromatin assembly or disassembly|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nuclear chromosome	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|metal ion binding|transcription factor binding			breast(3)|cervix(1)|endometrium(1)|lung(4)|prostate(1)	10	Renal(35;0.156)				Vorinostat(DB02546)	CCAGCTGTAAGACCACTGCTT	0.428000														48			24		0	0	0.000878237	0	0
IFNAR2	3455	broad.mit.edu	37	21	34655546	34655546	+	Splice_Site	SNP	G	A	A	rs45469692		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:34655546G>A	uc002yrl.1	+	4	1063	c.652_splice	c.e4+1	p.E218_splice	IFNAR2_uc002yri.1_Splice_Site|IFNAR2_uc002yrh.1_Splice_Site|IFNAR2_uc002yrk.1_Splice_Site_p.E216_splice	NM_000628	NP_000619	P48551	INAR2_HUMAN	Homo sapiens interleukin 10 receptor, beta (IL10RB), mRNA.	237					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AACCCATGACGGTAAGCCCTG	0.483000														55			22		0	0	0.00188189	0	0
DDI1	414301	broad.mit.edu	37	11	103907691	103907691	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:103907691C>T	uc001phr.2	+	0	384	c.141C>T	c.(139-141)atC>atT	p.I47I	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	47	Ubiquitin-like.				proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		AGATCCAGATCATCCACATGG	0.557000														42			52		0	0	0.000781405	0	0
RPUSD1	113000	broad.mit.edu	37	16	836346	836346	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:836346A>C	uc002cka.3	-	4	777	c.543T>G	c.(541-543)agT>agG	p.S181R	RPUSD1_uc002ckb.3_Missense_Mutation_p.S181R|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	181					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGCCCAGGGCACTGCAGTGCA	0.677000														19			20		0	0	0.00229938	0	0
TSR2	90121	broad.mit.edu	37	X	54470860	54470860	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:54470860G>A	uc004dte.3	+	4	455	c.453G>A	c.(451-453)acG>acA	p.T151T	TSR2_uc004dtf.3_Silent_p.T56T	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	151					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						TCACAGCTACGAATGATGGGG	0.522000														16			11		0	0	0.000978159	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54911364	54911364	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:54911364C>T	uc001sgc.4	+	11	1222	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Silent_p.T331T	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	381					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						ATGAGGTCACCTGGCTGGTTC	0.438000														63			40		0	0	0.00285205	0	0
KLK11	11012	broad.mit.edu	37	19	51527935	51527935	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr19:51527935G>A	uc002pvd.1	-	2	364	c.252C>T	c.(250-252)atC>atT	p.I84I	KLK11_uc002pvc.4_Silent_p.I52I|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_Silent_p.I52I|KLK11_uc002pvf.1_Silent_p.I52I|KLK11_uc010eom.3_Silent_p.I52I	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	84	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		ATCTGGGGGCGATGAGCGTCG	0.677000														13			4		0	0	0.00024832	0	0
PKP1	5317	broad.mit.edu	37	1	201294148	201294148	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:201294148C>T	uc001gwd.3	+	11	2228	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	PKP1_uc001gwe.3_Silent_p.S638S|PKP1_uc009wzm.3_Silent_p.S246S	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	659					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						ACATCTTGTCCTCGGCCTGCT	0.577000														126			71		0	0	0.000781405	0	0
SPRED1	161742	broad.mit.edu	37	15	38614474	38614474	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:38614474C>T	uc001zka.4	+	2	575	c.240C>T	c.(238-240)ctC>ctT	p.L80L		NM_152594	NP_689807	Q7Z699	SPRE1_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 1 (SPRED1), mRNA.	80	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AAAAAGACCTCATTTATAATA	0.338000									Legius syndrome					48			55		0	0	0.000781405	0	0
ATP13A5	344905	broad.mit.edu	37	3	193019021	193019021	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:193019021G>A	uc011bsq.2	-	23	2754	c.2754C>T	c.(2752-2754)atC>atT	p.I918I		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	918					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTAATGCACTGATAAACTGGA	0.343000														53			41		0	0	0.00285205	0	0
COPS5	10987	broad.mit.edu	37	8	67963533	67963533	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:67963533G>A	uc003xxf.3	-	7	1011	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	COPS5_uc003xxd.3_Missense_Mutation_p.R171C|COPS5_uc003xxe.3_Missense_Mutation_p.R235C|COPS5_uc010lyu.1_Non-coding_Transcript|COPS5_uc010lyv.1_Missense_Mutation_p.R235C			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	235					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AGCAATTTGCGATCCAAAGAG	0.308000														58			27		0	0	0.00106085	0	0
DST	667	broad.mit.edu	37	6	56328382	56328382	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:56328382G>A	uc003pcy.4	-	80	15107	c.14999C>T	c.(14998-15000)cCt>cTt	p.P5000L	DST_uc003pcv.4_Missense_Mutation_p.P122L|DST_uc003pcw.4_Missense_Mutation_p.P83L|DST_uc003pcx.4_Missense_Mutation_p.P83L	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7436					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGTGGTGGCAGGGACCTGTGG	0.562000														40			25		0	0	0.00106085	0	0
OR2T2	401992	broad.mit.edu	37	1	248616137	248616137	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:248616137C>T	uc001iek.1	+	0	39	c.39C>T	c.(37-39)ttC>ttT	p.F13F		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F13V(2)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCACTAACTTCGTCCTCACAG	0.507000														140			30		0	0	0.000781405	0	0
OR4C15	81309	broad.mit.edu	37	11	55322838	55322838	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:55322838G>A	uc010rig.2	+	0	1056	c.1056G>A	c.(1054-1056)agG>agA	p.R352R		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGGCCATGAGGAGAATATGGA	0.333000										HNSCC(20;0.049)				19			27		0	0	0.000586117	0	0
DCST1	149095	broad.mit.edu	37	1	155013970	155013970	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr1:155013970A>G	uc001fgn.2	+	6	743	c.629A>G	c.(628-630)gAg>gGg	p.E210G	DCST1_uc010per.2_Missense_Mutation_p.E235G|DCST1_uc010pes.2_Missense_Mutation_p.E185G	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	210						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TACACGCCTGAGGATACCATG	0.577000														50			18		0	0	0.00074312	0	0
SETDB2	83852	broad.mit.edu	37	13	50065897	50065897	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr13:50065897G>A	uc001vcz.3	+	14	2978	c.2072G>A	c.(2071-2073)tGg>tAg	p.W691*	SETDB2_uc001vda.3_Nonsense_Mutation_p.W679*	NM_031915	NP_114121	Q96T68	SETB2_HUMAN	Homo sapiens SET domain, bifurcated 2 (SETDB2), transcript variant 1, mRNA.	691	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GAGCTAACATGGGATTATGGC	0.313000														38			25		0	0	0.00106085	0	0
SRRM2	23524	broad.mit.edu	37	16	2814310	2814310	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr16:2814310A>G	uc002crk.3	+	10	4330	c.3781A>G	c.(3781-3783)Aaa>Gaa	p.K1261E	SRRM2_uc002crj.1_Missense_Mutation_p.K1165E|SRRM2_uc002crl.1_Missense_Mutation_p.K1261E|SRRM2_uc010bsu.1_Missense_Mutation_p.K1165E	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1261	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCAGAACTTAAAGAAATGTC	0.443000														69			80		0	0	0.000781405	0	0
LARP6	55323	broad.mit.edu	37	15	71124689	71124689	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr15:71124689G>A	uc002ass.3	-	2	1249	c.1178C>T	c.(1177-1179)tCc>tTc	p.S393F		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	393					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						GGACTTTCTGGAAACGCCTTT	0.562000														39			38		0	0	0.00111076	0	0
DMD	1756	broad.mit.edu	37	X	32235169	32235169	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chrX:32235169C>T	uc004dda.1	-	43	6546	c.6302G>A	c.(6301-6303)aGa>aAa	p.R2101K	DMD_uc004dcw.2_Missense_Mutation_p.R757K|DMD_uc004dcx.2_Missense_Mutation_p.R760K|DMD_uc004dcz.2_Missense_Mutation_p.R1978K|DMD_uc004dcy.1_Missense_Mutation_p.R2097K|DMD_uc004ddb.1_Missense_Mutation_p.R2093K|DMD_uc010ngo.1_Missense_Mutation_p.R10K|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2101					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCAACAGATCTGTCAAATCG	0.338000														23			4		0	0	0.000602214	0	0
CNOT7	29883	broad.mit.edu	37	8	17094725	17094725	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:17094725G>A	uc003wxf.1	-	3	637	c.469C>T	c.(469-471)Cat>Tat	p.H157Y	CNOT7_uc003wxg.1_Missense_Mutation_p.H157Y|CNOT7_uc003wxh.1_Missense_Mutation_p.H157Y	NM_013354	NP_037486	Q9UIV1	CNOT7_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 7 (CNOT7), transcript variant 1, mRNA.	157					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		TTTTACCTATGAAATGACAAC	0.383000														67			19		0	0	0.00188189	0	0
KRTAP5-7	440050	broad.mit.edu	37	11	71238569	71238569	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr11:71238569G>T	uc001oqq.1	+	0	257	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W		NM_001012503	NP_001012521	Q6L8G8	KRA57_HUMAN	Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA.	75	7 X 4 AA repeats of C-C-X-P.					keratin filament				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGCTCCAAGGGGGGCTGTGG	0.652000														90			60		7.92265e-33	3.7624e-32	0.000781405	1	0
SRGAP1	57522	broad.mit.edu	37	12	64519840	64519840	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr12:64519840C>T	uc010ssp.1	+	18	2364	c.2308C>T	c.(2308-2310)Ctg>Ttg	p.L770L	SRGAP1_uc001srv.2_Silent_p.L707L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	770	SH3.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GGGTGCCTCCCTGCTGCTGTA	0.522000														61			40		0	0	0.00195071	0	0
FGF12	2257	broad.mit.edu	37	3	192053236	192053236	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:192053236G>A	uc003fsx.3	-	2	1154	c.328C>T	c.(328-330)Ccc>Tcc	p.P110S	FGF12_uc003fsy.3_Missense_Mutation_p.P48S	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	110					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		AGGCCCACGGGAATTAGATTG	0.433000														38			8		0	0	0.000157383	0	0
DNMT3L	29947	broad.mit.edu	37	21	45678547	45678547	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr21:45678547C>T	uc002zeg.1	-	5	859	c.375G>A	c.(373-375)ctG>ctA	p.L125L	DNMT3L_uc002zeh.1_Silent_p.L125L	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	125	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CGGGGCCGACCAGGCTATCCA	0.637000														34			12		0	0	0.00185496	0	0
CAPN13	92291	broad.mit.edu	37	2	30985998	30985998	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:30985998C>T	uc021vfn.1	-	5	756	c.724G>A	c.(724-726)Gag>Aag	p.E242K	CAPN13_uc021vfm.1_Missense_Mutation_p.E242K|CAPN13_uc002rnp.1_Missense_Mutation_p.E242K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	242	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGCCCATTCTCCATCGCCTGT	0.517000														5			10		0	0	0.00185496	0	0
PID1	55022	broad.mit.edu	37	2	229890441	229890441	+	Silent	SNP	C	T	T	rs140609082		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:229890441C>T	uc002vpr.4	-	2	698	c.660G>A	c.(658-660)agG>agA	p.R220R	PID1_uc002vps.4_Silent_p.R218R|PID1_uc002vpt.4_Silent_p.R187R|PID1_uc002vpu.4_Silent_p.R138R	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	220	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		GGAAAGTCTTCCTGAAGGCCT	0.552000														66			43		0	0	0.0025221	0	0
LOC440905	440905	broad.mit.edu	37	2	130792768	130792768	+	RNA	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:130792768G>A	uc002tpz.2	-	7		c.2561C>T								Homo sapiens uncharacterized LOC440905 (LOC440905), non-coding RNA.																		TGTATCACCTGGAATTGGAAT	0.463000														23			4		0	0	0.00024832	0	0
EPPK1	83481	broad.mit.edu	37	8	144940720	144940720	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:144940720C>T	uc003zaa.1	-	0	6715	c.6702G>A	c.(6700-6702)aaG>aaA	p.K2234K		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2234						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGGCTGGTCCTTGGCGGGCA	0.697000														81			26		0	0	0.000878237	0	0
TNXB	7148	broad.mit.edu	37	6	32032745	32032745	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:32032745C>T	uc003nzl.2	-	18	6896	c.6694G>A	c.(6694-6696)Gac>Aac	p.D2232N		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2304	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCTGCCCGTCCCCATTCTTA	0.597000														306			153		0	0	0.000781405	0	0
KCNIP3	30818	broad.mit.edu	37	2	95963201	95963201	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:95963201G>A	uc002sup.3	+	1	130	c.15_splice	c.e1+1	p.K5_splice	KCNIP3_uc002suo.1_Splice_Site_p.K5_splice	NM_013434	NP_038462	Q9Y2W7	CSEN_HUMAN	Homo sapiens Kv channel interacting protein 3, calsenilin (KCNIP3), transcript variant 1, mRNA.	5					apoptosis|signal transduction|transcription, DNA-dependent	Golgi apparatus|endoplasmic reticulum|nucleus|plasma membrane	DNA binding|calcium ion binding|potassium channel activity|transcription corepressor activity|voltage-gated ion channel activity			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16				READ - Rectum adenocarcinoma(193;0.13)		AGCCGGCTAAGGTAGGTGCTG	0.627000														6			3		0	0	0.00024832	0	0
CAMLG	819	broad.mit.edu	37	5	134086595	134086595	+	Silent	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:134086595C>T	uc003kzt.3	+	3	987	c.846C>T	c.(844-846)atC>atT	p.I282I	CAMLG_uc003kzu.3_3'UTR	NM_001745	NP_001736	P49069	CAMLG_HUMAN	Homo sapiens calcium modulating ligand (CAMLG), mRNA.	282					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	TCACTTTTATCTTTTGTCATG	0.383000														25			18		0	0	0.00074312	0	0
NUDT9	53343	broad.mit.edu	37	4	88356186	88356186	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr4:88356186C>T	uc003hqq.3	+	1	491	c.161C>T	c.(160-162)tCt>tTt	p.S54F	NUDT9_uc010ikl.3_Missense_Mutation_p.S54F|NUDT9_uc003hqr.3_Missense_Mutation_p.S4F	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	54						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		ATGTCTGGTTCTAATGGTTCC	0.383000														35			12		0	0	0.000978159	0	0
TRBV4-1	28617	broad.mit.edu	37	7	142013374	142013374	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr7:142013374G>A	uc003vxg.3	+	1	258	c.229G>A	c.(229-231)Gaa>Aaa	p.E77K	TRBV2_uc011kro.1_Intron|TRBV4-1_uc022ana.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		CTCTATAAATGAAAGTGTGCG	0.483000														96			92		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750125	140750125	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr5:140750125G>A	uc003ljw.2	+	0	164	c.164G>A	c.(163-165)gGg>gAg	p.G55E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.G55E	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	53	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGACCTGGGGTTTGGCGTG	0.547000														61			47		0	0	0.000781405	0	0
LTF	4057	broad.mit.edu	37	3	46485063	46485063	+	Silent	SNP	G	A	A			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr3:46485063G>A	uc003cpq.3	-	12	1765	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	LTF_uc003fzr.3_Silent_p.F464F|LTF_uc010hjh.3_Silent_p.F506F|LTF_uc003cpr.3_Silent_p.F495F	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	508	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGCTTTGACTGAAATATTCAT	0.517000														70			52		0	0	0.000781405	0	0
ADCY3	109	broad.mit.edu	37	2	25141322	25141324	+	In_Frame_Del	DEL	AGG	-	-	rs140278293		TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr2:25141322_25141324delAGG	uc010ykm.2	-	0	732_734	c.533_535delCCT	c.(532-537)tccttc>ttc	p.S178del	ADCY3_uc002rfs.4_In_Frame_Del_p.S178del	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	178					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGATGAAGAAGGAGAAGACAAA	0.616													---	23	---	---	17	---					
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	-	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:139097330delA	uc003qie.3	+	1	498	c.343delA	c.(343-345)aaafs	p.K115fs	LOC100507462_uc003qid.2_5'Flank	NM_015439	NP_056254	Q8IWP9	CC28A_HUMAN	Homo sapiens coiled-coil domain containing 28A (CCDC28A), mRNA.	115								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413													---	103	---	---	7	---					
REPS1	85021	broad.mit.edu	37	6	139235874	139235887	+	Frame_Shift_Del	DEL	GCAACAACTCCAGC	-	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr6:139235874_139235887delGCAACAACTCCAGC	uc003qii.3	-	14	2311_2324	c.1732_1745delGCTGGAGTTGTTGC	c.(1732-1746)gctggagttgttgccfs	p.A578fs	REPS1_uc003qig.4_Frame_Shift_Del_p.A551fs|REPS1_uc011edr.2_Frame_Shift_Del_p.A577fs|REPS1_uc003qij.3_Frame_Shift_Del_p.A487fs|REPS1_uc003qik.3_Frame_Shift_Del_p.A184fs	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	578	Pro-rich.					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AGGAGGATGGGCAACAACTCCAGCCTGTTGTTGT	0.397													---	65	---	---	7	---					
KIAA1429	25962	broad.mit.edu	37	8	95503845	95503845	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr8:95503845delG	uc003ygo.2	-	21	5172	c.5101delC	c.(5101-5103)cacfs	p.H1701fs	KIAA1429_uc010maz.2_Intron	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1701					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TTCTGACTGTGGAAAGCACCC	0.398													---	75	---	---	27	---					
GRIN3A	116443	broad.mit.edu	37	9	104432476	104432477	+	Frame_Shift_Ins	INS	-	ACAT	ACAT			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr9:104432476_104432477insACAT	uc004bbp.2	-	2	2818_2819	c.2217_2218insATGT	c.(2215-2220)tgttggfs	p.C739fs	GRIN3A_uc004bbq.1_Frame_Shift_Ins_p.C739fs	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	739					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.W740C(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTTCCAGTCCAACATTTTGGAG	0.441													---	38	---	---	11	---					
ASXL3	80816	broad.mit.edu	37	18	31323656	31323656	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:31323656delT	uc010dmg.1	+	11	3899	c.3844delT	c.(3844-3846)ttafs	p.L1282fs	ASXL3_uc002kxq.2_Frame_Shift_Del_p.L989fs	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1282	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TATAAGCATGTTAAAAACCAT	0.393													---	77	---	---	30	---					
ZNF407	55628	broad.mit.edu	37	18	72344370	72344381	+	In_Frame_Del	DEL	AACACAGATGAA	-	-			TCGA-DA-A1HW-06A-11D-A19A-08	TCGA-DA-A1HW-10A-01D-A19A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc249113-83d4-4abe-8c80-a4f7305dcd91	33f2b633-1489-4934-a556-19cc41fc0841	g.chr18:72344370_72344381delAACACAGATGAA	uc002llw.2	+	0	1448_1459	c.1395_1406delAACACAGATGAA	c.(1393-1407)agaacacagatgaaa>aga	p.TQMK466del	ZNF407_uc010xfc.2_In_Frame_Del_p.TQMK466del|ZNF407_uc010dqu.2_In_Frame_Del_p.TQMK466del|ZNF407_uc002llu.2_In_Frame_Del_p.TQMK465del	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AACACTTGAGAACACAGATGAAAACACACGAT	0.458													---	50	---	---	30	---					
