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
FILIP1L	11259	broad.mit.edu	37	3	99569213	99569213	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:99569213T>C	uc003dtm.3	-	4	1770	c.1307A>G	c.(1306-1308)aAa>aGa	p.K436R	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.K436R|FILIP1L_uc010hpf.3_Missense_Mutation_p.K12R|FILIP1L_uc010hpg.3_Missense_Mutation_p.K196R|FILIP1L_uc003dtn.3_Missense_Mutation_p.K196R|FILIP1L_uc021xbr.1_Missense_Mutation_p.K196R|FILIP1L_uc003dtp.1_Missense_Mutation_p.K196R	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	436						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGTTTGCTTTTGTTGAAAGC	0.358000														45			33		0	0	0.003271	0	0
ZNF621	285268	broad.mit.edu	37	3	40571737	40571737	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:40571737C>T	uc003ckm.2	+	3	405	c.189C>T	c.(187-189)caC>caT	p.H63H	ZNF621_uc003ckn.2_Silent_p.H63H|ZNF621_uc003cko.2_Silent_p.H28H|ZNF621_uc011aze.1_Silent_p.H55H	NM_001098414	NP_940886	Q6ZSS3	ZN621_HUMAN	Homo sapiens zinc finger protein 621 (ZNF621), transcript variant 2, mRNA.	63	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		TGATCTCCCACCTGGAGAGAG	0.507000														48			15		0	0	0.007413	0	0
IL31RA	133396	broad.mit.edu	37	5	55206402	55206402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:55206402C>T	uc003jql.3	+	11	1736	c.1544C>T	c.(1543-1545)tCc>tTc	p.S515F	IL31RA_uc003jqm.3_Missense_Mutation_p.S496F|IL31RA_uc003jqn.3_Missense_Mutation_p.S515F|IL31RA_uc010iwa.1_Missense_Mutation_p.S478F|IL31RA_uc021xyq.1_Missense_Mutation_p.S496F|IL31RA_uc003jqo.3_Missense_Mutation_p.S373F	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	483					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GGCCTGGAGTCCCTGAAACGA	0.468000														24			28		0	0	0.008361	0	0
SKIV2L	6499	broad.mit.edu	37	6	31936654	31936654	+	Nonsense_Mutation	SNP	C	T	T	rs138923214		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:31936654C>T	uc003nyn.1	+	25	3576	c.3187C>T	c.(3187-3189)Cga>Tga	p.R1063*	SKIV2L_uc011dou.1_Nonsense_Mutation_p.R905*|SKIV2L_uc011dov.1_Nonsense_Mutation_p.R870*|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1063						nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCAGGTGCTCCGAACCCTGGG	0.607000														352			29		0	0	0.001786	0	0
NKAP	79576	broad.mit.edu	37	X	119070327	119070327	+	Silent	SNP	C	T	T	rs10577974		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:119070327C>T	uc004esh.3	-	3	773	c.606G>A	c.(604-606)tcG>tcA	p.S202S	NKAP_uc004esg.3_Silent_p.S89S	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	202	Lys-rich.|Necessary for interaction with CIR1.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding	p.S202L(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GTTTTCTTTTCGATGATTTTT	0.348000														45			27		0	0	0.007291	0	0
NOL11	25926	broad.mit.edu	37	17	65732798	65732798	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:65732798C>T	uc002jgd.1	+	9	1074	c.1071C>T	c.(1069-1071)tcC>tcT	p.S357S	NOL11_uc010wql.1_Silent_p.S175S|NOL11_uc010deu.1_5'UTR	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	357						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATGTCGTGTCCCATTTTGTAA	0.358000														22			4		0	0	0.000602	0	0
STX19	415117	broad.mit.edu	37	3	93733335	93733335	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:93733335T>A	uc003drh.1	-	1	1036	c.779A>T	c.(778-780)tAt>tTt	p.Y260F	ARL13B_uc003drc.3_Intron|ARL13B_uc010hop.3_Intron|ARL13B_uc003drf.3_Intron|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_Intron|STX19_uc021xbj.1_Missense_Mutation_p.Y260F	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	Homo sapiens syntaxin 19 (STX19), mRNA.	260	t-SNARE coiled-coil homology.				intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						ATTGTTAACATACTCTTTTGT	0.343000														20			5		0	0	0.000602	0	0
RAD52	5893	broad.mit.edu	37	12	1034684	1034684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:1034684C>T	uc001qis.1	-	6	589	c.475G>A	c.(475-477)Ggg>Agg	p.G159R	RAD52_uc001qit.1_Non-coding_Transcript|RAD52_uc010sdt.1_Missense_Mutation_p.G82R|RAD52_uc001qiu.1_Missense_Mutation_p.G159R|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Non-coding_Transcript|RAD52_uc010sdu.1_Missense_Mutation_p.G159R|RAD52_uc001qix.1_Nonsense_Mutation_p.W209*	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	159					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding	p.G159W(2)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGTGCATTCCCAAAACTCCTA	0.388000								Homologous recombination						19			19		0	0	0.001523	0	0
CXorf40B	541578	broad.mit.edu	37	X	149100870	149100870	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:149100870C>T	uc004fdy.3	-	4	885	c.369G>A	c.(367-369)gtG>gtA	p.V123V	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	Homo sapiens chromosome X open reading frame 40B (CXorf40B), mRNA.	123										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTTGAAATCACAGTCAGGT	0.502000														103			37		0	0	0.002522	0	0
DENND2A	27147	broad.mit.edu	37	7	140301597	140301597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:140301597G>A	uc010lnk.3	-	2	1121	c.601C>T	c.(601-603)Ctt>Ttt	p.L201F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.L201F|DENND2A_uc003vvw.3_Missense_Mutation_p.L201F|DENND2A_uc003vvx.3_Missense_Mutation_p.L201F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	201										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCTCAGGAAGGGTGGACCCT	0.637000														57			8		0	0	0.004482	0	0
MXRA5	25878	broad.mit.edu	37	X	3239265	3239265	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:3239265C>T	uc004crg.4	-	4	4618	c.4461G>A	c.(4459-4461)cgG>cgA	p.R1487R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1487						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTCCTTCATCCGGGCAGCAG	0.498000														54			12		0	0	0.000978	0	0
CD2	914	broad.mit.edu	37	1	117303207	117303207	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:117303207G>A	uc001egu.4	+	2	595	c.566G>A	c.(565-567)gGg>gAg	p.G189E	CD2_uc010owz.1_Missense_Mutation_p.G189E|CD2_uc010oxa.1_Intron	NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	189	Ig-like C2-type.				T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	TGCACAGCAGGGAACAAAGTC	0.512000														27			11		0	0	0.001368	0	0
CFTR	1080	broad.mit.edu	37	7	117199600	117199600	+	Missense_Mutation	SNP	C	T	T	rs121909017		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:117199600C>T	uc003vjd.3	+	10	1607	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	CFTR_uc011knq.2_5'UTR|CFTR_uc003vje.1_Non-coding_Transcript	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	492	ABC transporter 1.		S -> F (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TCATTCTGTTCTCAGTTTTCC	0.383000									Cystic Fibrosis					26			30		0	0	0.002445	0	0
DNHD1	144132	broad.mit.edu	37	11	6541243	6541243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:6541243C>T	uc001mdw.4	+	8	2260	c.1696C>T	c.(1696-1698)Cat>Tat	p.H566Y	DNHD1_uc001mdp.3_Missense_Mutation_p.H566Y|DNHD1_uc001mdq.3_Missense_Mutation_p.H255Y	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	566					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTTTGATGATCATGGTCAACT	0.463000														67			23		0	0	0.005443	0	0
ZNF337	26152	broad.mit.edu	37	20	25656980	25656980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:25656980G>A	uc002wva.3	-	3	1466	c.944C>T	c.(943-945)tCa>tTa	p.S315L	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Missense_Mutation_p.S283L|ZNF337_uc002wvc.3_Missense_Mutation_p.S315L	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTTCTCCCCTGAATGCGCCTT	0.473000														86			34		0	0	0.002836	0	0
FSTL5	56884	broad.mit.edu	37	4	162841651	162841651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:162841651C>T	uc003iqh.3	-	3	750	c.314G>A	c.(313-315)gGa>gAa	p.G105E	FSTL5_uc003iqi.3_Missense_Mutation_p.G104E|FSTL5_uc010iqv.3_Missense_Mutation_p.G104E	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	105	Kazal-like.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATAGAATTCTCCGTCAGATCC	0.433000														21			14		0	0	0.001855	0	0
DRP2	1821	broad.mit.edu	37	X	100486727	100486727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:100486727C>T	uc004egz.2	+	2	460	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	DRP2_uc011mrh.1_Intron	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	31					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TAGCAGCAGCCTCCGAAGCAC	0.537000														64			24		0	0	0.004656	0	0
CDR1	1038	broad.mit.edu	37	X	139866498	139866498	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:139866498C>T	uc004fbg.1	-	0	226	c.34G>A	c.(34-36)Gac>Aac	p.D12N	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	12	23 X 6 AA approximate repeats.							p.D12D(1)		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)				AAAGGTACGTCTTCCAGAAAA	0.413000														146			67		0	0	0.003610	0	0
TMEM211	255349	broad.mit.edu	37	22	25334156	25334156	+	Silent	SNP	C	T	T	rs138723870		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:25334156C>T	uc003abk.1	-	1	112	c.87G>A	c.(85-87)agG>agA	p.R29R		NM_001001663	NP_001001663	Q6ICI0	TM211_HUMAN	Homo sapiens transmembrane protein 211 (TMEM211), mRNA.	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CACTGCTTCTCCTTGGGCACA	0.527000														46			22		0	0	0.003330	0	0
COBRA1	25920	broad.mit.edu	37	9	140161467	140161468	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:140161467_140161468GG>AA	uc004cmm.4	+	8	1370_1371	c.1167_1168GG>AA	c.(1165-1170)gtggat>gtAAat	p.D390N		NM_015456	NP_056271	Q8WX92	NELFB_HUMAN	Homo sapiens cofactor of BRCA1 (COBRA1), mRNA.	390					negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleoplasm	protein binding			endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	16	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.137)	OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766)		CTTTCAATGTGGATCAGAAACT	0.554000														32			5		0	0	0.004672	0	0
ZEB1	6935	broad.mit.edu	37	10	31810698	31810698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:31810698C>T	uc001ivs.4	+	6	2498	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	ZEB1_uc001ivr.4_Missense_Mutation_p.P594L|ZEB1_uc010qef.2_Missense_Mutation_p.P594L|ZEB1_uc009xlj.1_Missense_Mutation_p.P738L|ZEB1_uc010qeg.1_Missense_Mutation_p.P671L|ZEB1_uc009xlk.1_Missense_Mutation_p.P594L|ZEB1_uc001ivu.4_Missense_Mutation_p.P813L|ZEB1_uc010qeh.2_Missense_Mutation_p.P745L|ZEB1_uc001ivv.4_Missense_Mutation_p.P792L|ZEB1_uc001ivt.4_Missense_Mutation_p.P594L|ZEB1_uc009xlo.2_Missense_Mutation_p.P795L|ZEB1_uc009xlp.3_Missense_Mutation_p.P796L	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	812					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				GCCCAGTTACCCACAATCGTG	0.473000														31			14		0	0	0.003163	0	0
PCNX	22990	broad.mit.edu	37	14	71570253	71570253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr14:71570253C>T	uc001xmo.2	+	31	6408	c.5962C>T	c.(5962-5964)Cct>Tct	p.P1988S	PCNX_uc010are.1_Missense_Mutation_p.P1877S|PCNX_uc010arf.1_Missense_Mutation_p.P776S|PCNX_uc001xmp.2_Missense_Mutation_p.P72S	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1988						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTGTGATCAACCTATTGGCTA	0.453000														59			20		0	0	0.002299	0	0
IP6K2	51447	broad.mit.edu	37	3	48726087	48726087	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:48726087G>A	uc003cuq.3	-	5	1361	c.900C>T	c.(898-900)cgC>cgT	p.R300R	NCKIPSD_uc003cun.3_5'Flank|NCKIPSD_uc003cum.3_5'Flank|NCKIPSD_uc010hkh.2_5'Flank|IP6K2_uc003cup.3_Silent_p.R300R	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	300					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GGAGTTCACGGCGCAGGTACC	0.562000														34			28		0	0	0.006320	0	0
ABCA2	20	broad.mit.edu	37	9	139910781	139910781	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:139910781G>A	uc004ckm.1	-	20	3203	c.3153C>T	c.(3151-3153)tcC>tcT	p.S1051S	ABCA2_uc022bpy.1_Silent_p.S952S|ABCA2_uc022bpz.1_Silent_p.S1022S|ABCA2_uc011mem.1_Silent_p.S1021S|ABCA2_uc004ckl.1_Silent_p.S952S|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	1021	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGCCCAAGAAGGAGACCACCT	0.597000														17			6		0	0	0.001984	0	0
CLCA4	22802	broad.mit.edu	37	1	87045258	87045258	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:87045258G>A	uc009wcs.3	+	12	2388	c.2344G>A	c.(2344-2346)Gat>Aat	p.D782N	CLCA4_uc009wct.3_Missense_Mutation_p.D545N|CLCA4_uc009wcu.3_Missense_Mutation_p.D602N	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	782						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AGATAATTTTGATGTTGGAAA	0.428000														35			7		0	0	0.003080	0	0
DMXL1	1657	broad.mit.edu	37	5	118513857	118513857	+	Silent	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:118513857A>G	uc010jcl.1	+	27	7234	c.7053A>G	c.(7051-7053)ctA>ctG	p.L2351L	DMXL1_uc003ksd.2_Silent_p.L2351L|DMXL1_uc021ycw.1_Silent_p.L2178L	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	2351										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CCCATCCTCTAAATGAGAAAA	0.418000														55			18		0	0	0.006122	0	0
DHX37	57647	broad.mit.edu	37	12	125438543	125438543	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:125438543C>T	uc001ugy.3	-	20	2678	c.2579_splice	c.e20-1	p.G860_splice	DHX37_uc001ugz.1_5'Flank	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	860							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CCCACGGCGCCTGGGGAACGA	0.657000														7			7		0	0	0.004482	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893932	78893932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:78893932G>A	uc002bec.3	-	4	1553	c.1052C>T	c.(1051-1053)cCc>cTc	p.P351L	CHRNA3_uc002beb.3_Missense_Mutation_p.P351L|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	351					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.P351S(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CATGACCCTGGGGAGCAGGTT	0.552000														37			29		0	0	0.008361	0	0
ITGB3	3690	broad.mit.edu	37	17	45360877	45360877	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:45360877A>G	uc002ilj.3	+	2	343	c.323A>G	c.(322-324)cAa>cGa	p.Q108R	ITGB3_uc002ili.1_Missense_Mutation_p.Q108R|ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	108					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CAGGTCACTCAAGTCAGTCCC	0.612000														26			17		0	0	0.006122	0	0
TMCO5A	145942	broad.mit.edu	37	15	38234396	38234396	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:38234396A>G	uc001zjw.3	+	7	611	c.509A>G	c.(508-510)tAc>tGc	p.Y170C	TMCO5A_uc001zjv.1_Missense_Mutation_p.Y170C|TMCO5A_uc010bbc.1_Missense_Mutation_p.Y170C	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	170						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TTGAAGAAGTACCAGGAAACG	0.363000														101			28		0	0	0.001786	0	0
ZNF572	137209	broad.mit.edu	37	8	125989827	125989827	+	Silent	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:125989827T>C	uc003yrr.3	+	2	1472	c.1317T>C	c.(1315-1317)ccT>ccC	p.P439P		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GAGAGAAACCTTATAAATGTC	0.438000										HNSCC(60;0.17)				43			29		0	0	0.007291	0	0
CCDC83	220047	broad.mit.edu	37	11	85576199	85576199	+	Silent	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:85576199T>C	uc001pbg.1	+	1	545	c.33T>C	c.(31-33)gaT>gaC	p.D11D	CCDC83_uc001pbh.1_Silent_p.D11D	NM_173556	NP_775827	Q8IWF9	CCD83_HUMAN	Homo sapiens coiled-coil domain containing 83 (CCDC83), mRNA.	11										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAAAAAGGATACACATGACG	0.363000														61			20		0	0	0.002780	0	0
ATP8A1	10396	broad.mit.edu	37	4	42580365	42580365	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:42580365A>T	uc003gwr.2	-	11	1272	c.1040T>A	c.(1039-1041)tTc>tAc	p.F347Y	ATP8A1_uc003gws.2_Missense_Mutation_p.F347Y|ATP8A1_uc011byz.1_Missense_Mutation_p.F347Y	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	347					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AAGGATGATGAAGGTCAAGAA	0.358000														35			24		0	0	0.001786	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140229320	140229320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140229320G>A	uc003lhu.2	+	0	1964	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.D414N	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	428	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGAGCTCTGGACCGCGAGAG	0.642000														69			14		0	0	0.004007	0	0
FLRT3	23767	broad.mit.edu	37	20	14307575	14307575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:14307575G>A	uc021war.1	-	0	578	c.578C>T	c.(577-579)cCa>cTa	p.P193L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.P193L|FLRT3_uc002wow.2_Missense_Mutation_p.P193L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	193					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		TTGAAGAGATGGTGATGAAAT	0.418000														29			48		0	0	0.003214	0	0
SAMD9	54809	broad.mit.edu	37	7	92730924	92730924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:92730924C>T	uc003umf.3	-	2	4757	c.4487G>A	c.(4486-4488)gGa>gAa	p.G1496E	SAMD9_uc003umg.3_Missense_Mutation_p.G1496E|SAMD9_uc022ahg.1_Missense_Mutation_p.G1496E	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1496						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTCAATTTTTCCTTTGTGAAC	0.378000														21			14		0	0	0.002450	0	0
CHD7	55636	broad.mit.edu	37	8	61732609	61732609	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:61732609G>A	uc003xue.3	+	8	3149	c.2657G>A	c.(2656-2658)cGg>cAg	p.R886Q	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_5'UTR	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	886	Chromo 2.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAGGTTGACCGGATAATGGAC	0.383000														12			4		0	0	0.001984	0	0
DEFB118	117285	broad.mit.edu	37	20	29960671	29960671	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:29960671G>A	uc002wvr.3	+	1	103	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	24					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CTATAGTGGTGAAAAAAAATG	0.398000														7			10		0	0	0.006214	0	0
SCN1A	6323	broad.mit.edu	37	2	166911222	166911222	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:166911222C>T	uc002udo.4	-	5	755	c.528G>A	c.(526-528)agG>agA	p.R176R	SCN1A_uc010fpk.3_Silent_p.R176R|SCN1A_uc021vsb.1_Silent_p.R176R	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	176						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AACAGAATCCCCTTGCAATAA	0.323000														13			3		0	0	0.004672	0	0
OR4C15	81309	broad.mit.edu	37	11	55322530	55322530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:55322530C>T	uc010rig.2	+	0	748	c.748C>T	c.(748-750)Ctc>Ttc	p.L250F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	196					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						CATCTTTGGCCTCATGGTGGT	0.458000										HNSCC(20;0.049)				17			23		0	0	0.001882	0	0
BCS1L	617	broad.mit.edu	37	2	219525825	219525825	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:219525825G>A	uc002vip.3	+	2	461	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	ZNF142_uc002vin.3_5'Flank|ZNF142_uc010fvt.3_5'Flank|ZNF142_uc002vim.3_5'Flank|BCS1L_uc002viq.3_Missense_Mutation_p.G39S|BCS1L_uc010fvu.3_Missense_Mutation_p.G39S|BCS1L_uc010fvv.3_Missense_Mutation_p.G39S|BCS1L_uc002vis.3_Missense_Mutation_p.G39S|BCS1L_uc021vwz.1_Missense_Mutation_p.G39S	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	39					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCAACTGGGCCTGGTGGC	0.597000														39			27		0	0	0.004656	0	0
CENPI	2491	broad.mit.edu	37	X	100381742	100381742	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:100381742C>T	uc004egx.3	+	7	1002	c.732C>T	c.(730-732)ttC>ttT	p.F244F	CENPI_uc011mrg.2_Silent_p.F244F|CENPI_uc004egy.3_Silent_p.F244F	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	244					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TGTATAAGTTCTTTGCTCCTG	0.353000														212			93		0	0	0.003610	0	0
ZNF441	126068	broad.mit.edu	37	19	11892313	11892313	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:11892313C>T	uc010dyj.3	+	3	1868	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P	ZNF441_uc002msn.4_Silent_p.P514P	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGAAACCCTATGGTTGTC	0.413000														13			9		0	0	0.000978	0	0
ALPK3	57538	broad.mit.edu	37	15	85401094	85401094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:85401094G>A	uc002ble.3	+	5	3898	c.3731G>A	c.(3730-3732)gGc>gAc	p.G1244D		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1244					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.T1243T(1)|p.G1244S(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CGCCTCACCGGCCTCCTGGAC	0.682000														17			6		0	0	0.001984	0	0
FBXO9	26268	broad.mit.edu	37	6	52943611	52943611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:52943611C>T	uc021zas.1	+	3	403	c.352C>T	c.(352-354)Cgt>Tgt	p.R118C	FBXO9_uc021zao.1_5'UTR|FBXO9_uc021zap.1_5'UTR|FBXO9_uc021zaq.1_Missense_Mutation_p.R108C|FBXO9_uc021zar.1_5'UTR	NM_012347	NP_036479	Q9UK97	FBX9_HUMAN	Homo sapiens F-box protein 9 (FBXO9), transcript variant 1, mRNA.	118						ubiquitin ligase complex	ubiquitin-protein ligase activity			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					CAAGTTTTATCGTAGGGCTAT	0.368000														35			17		0	0	0.008871	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183076	147183076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:147183076G>A	uc003weu.2	+	10	2236	c.1720G>A	c.(1720-1722)Gac>Aac	p.D574N	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	574	EGF-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCAAACATGGGACAGCTTCAA	0.433000										HNSCC(39;0.1)				71			17		0	0	0.007413	0	0
TFAM	7019	broad.mit.edu	37	10	60154712	60154712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:60154712G>A	uc001jkf.3	+	6	751	c.619G>A	c.(619-621)Gac>Aac	p.D207N	TFAM_uc001jkg.3_Non-coding_Transcript	NM_003201	NP_003192	Q00059	TFAM_HUMAN	Homo sapiens transcription factor A, mitochondrial (TFAM), nuclear gene encoding mitochondrial protein, mRNA.	207					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						TGCTAAAGAGGACGAAACTCG	0.289000														6			7		0	0	0.003080	0	0
NEDD4L	23327	broad.mit.edu	37	18	56024451	56024452	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr18:56024451_56024452CC>TT	uc002lgy.3	+	18	2017_2018	c.1734_1735CC>TT	c.(1732-1737)gaccca>gaTTca	p.P579S	NEDD4L_uc002lgz.3_Missense_Mutation_p.P515S|NEDD4L_uc002lgx.3_Missense_Mutation_p.P559S|NEDD4L_uc010xee.1_Missense_Mutation_p.P458S|NEDD4L_uc002lhc.2_Missense_Mutation_p.P571S|NEDD4L_uc002lhd.2_Missense_Mutation_p.P458S|NEDD4L_uc002lhb.2_Missense_Mutation_p.P438S|NEDD4L_uc002lhe.2_Missense_Mutation_p.P551S|NEDD4L_uc002lhf.3_Missense_Mutation_p.P438S|NEDD4L_uc002lhg.3_Missense_Mutation_p.P458S|NEDD4L_uc002lhh.2_Missense_Mutation_p.P354S|NEDD4L_uc010dpm.1_Missense_Mutation_p.P260S	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	579	WW 4.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGTGGGAAGACCCAAGACTGCA	0.327000														9			11		0	0	0.004672	0	0
EVC2	132884	broad.mit.edu	37	4	5624458	5624458	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:5624458G>A	uc003gij.3	-	13	2361	c.2307C>T	c.(2305-2307)ccC>ccT	p.P769P	EVC2_uc003gik.3_Silent_p.P689P|EVC2_uc011bwb.2_Silent_p.P209P	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	769						integral to membrane		p.V768V(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GGAAGAGCCAGGGCACCCCAC	0.652000														22			17		0	0	0.004990	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751836	62751836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:62751836C>T	uc001nwk.3	-	0	660	c.327G>A	c.(325-327)tgG>tgA	p.W109*	SLC22A6_uc001nwl.3_Nonsense_Mutation_p.W109*|SLC22A6_uc001nwj.3_Nonsense_Mutation_p.W109*|SLC22A6_uc001nwm.3_Nonsense_Mutation_p.W109*	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	109					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGTCATAGATCCAGCCATCGG	0.602000														49			16		0	0	0.004990	0	0
GMPPA	29926	broad.mit.edu	37	2	220366281	220366282	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:220366281_220366282GG>AA	uc002vlv.3	+	3	597_598	c.222_223GG>AA	c.(220-225)caggag>caAAag	p.E75K	GMPPA_uc002vlr.3_Missense_Mutation_p.E75K	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	75					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity	p.E75K(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		CCGCCCAGCAGGAGTTTAACCT	0.545000														46			36		0	0	0.004672	0	0
KRTAP17-1	83902	broad.mit.edu	37	17	39471786	39471786	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:39471786C>T	uc002hwj.3	-	0	162	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	39						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			agccagagcccccacagccac	0.687000														8			3		0	0	0.004672	0	0
C12orf60	144608	broad.mit.edu	37	12	14976118	14976118	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:14976118G>A	uc001rcj.4	+	1	453	c.249G>A	c.(247-249)aaG>aaA	p.K83K	C12orf60_uc021qvq.1_Silent_p.K83K	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	83										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						AAATTCAAAAGGAGTCTTTAT	0.358000														49			17		0	0	0.004007	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249685	3249685	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:3249685C>T	uc021qcj.1	-	0	342	c.342G>A	c.(340-342)gcG>gcA	p.A114A	MRGPRE_uc001lxq.4_Silent_p.A114A	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	114						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGCTGACGGCCGCCAGGAGAC	0.687000														11			4		0	0	0.000602	0	0
SEC23B	10483	broad.mit.edu	37	20	18506573	18506573	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:18506573G>A	uc002wra.2	+	6	1292	c.831G>A	c.(829-831)ctG>ctA	p.L277L	SEC23B_uc010zsb.2_Silent_p.L259L|SEC23B_uc002wrb.2_Silent_p.L277L|SEC23B_uc002wqz.2_Silent_p.L277L|SEC23B_uc002wrc.2_Silent_p.L277L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	277					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						TTGGCTTGCTGGAGGTAATTT	0.433000														43			19		0	0	0.003954	0	0
BTNL8	79908	broad.mit.edu	37	5	180335686	180335686	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:180335686C>T	uc003mmp.3	+	1	384	c.150C>T	c.(148-150)gcC>gcT	p.A50A	BTNL8_uc003mmq.3_Silent_p.A50A|BTNL8_uc010jll.3_Silent_p.A50A|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	50	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCAGAGGCCATGGAAGTGC	0.577000														83			24		0	0	0.002780	0	0
FAM5C	339479	broad.mit.edu	37	1	190068027	190068027	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:190068027G>T	uc001gse.1	-	7	1654	c.1422C>A	c.(1420-1422)tgC>tgA	p.C474*	FAM5C_uc010pot.1_Nonsense_Mutation_p.C372*	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	474						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTTCAGGCTTGCAGAGCCCCT	0.572000														150			24		8.24728e-16	2.4897e-15	0.004656	1	0
NSFL1C	55968	broad.mit.edu	37	20	1424412	1424412	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:1424412G>A	uc002wfc.3	-	8	1963	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	NSFL1C_uc021vzq.1_Silent_p.I251I|NSFL1C_uc002wfe.3_Silent_p.I334I	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	365	UBX.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						ACCGCTGCACGATGACAGCAT	0.597000														19			12		0	0	0.001855	0	0
CYP1B1	1545	broad.mit.edu	37	2	38301675	38301675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:38301675C>T	uc002rqo.2	-	1	1259	c.857G>A	c.(856-858)gGg>gAg	p.G286E		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	286					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	gggggcggccccgggccgAAG	0.627000														11			3		0	0	0.000248	0	0
CSPP1	79848	broad.mit.edu	37	8	68007696	68007696	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:68007696C>T	uc003xxi.3	+	7	815	c.784C>T	c.(784-786)Cga>Tga	p.R262*	CSPP1_uc003xxg.1_Nonsense_Mutation_p.R254*|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Nonsense_Mutation_p.R227*|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	262						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GGACAGATACCGACAACTAGA	0.368000														33			20		0	0	0.001523	0	0
GALR1	2587	broad.mit.edu	37	18	74963119	74963119	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr18:74963119C>T	uc002lms.4	+	0	1112	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	205					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TGTGCACCTTCGTCTTCGGCT	0.687000														70			10		0	0	0.001368	0	0
CA14	23632	broad.mit.edu	37	1	150235484	150235484	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:150235484C>T	uc001etx.3	+	6	912	c.606C>T	c.(604-606)ctC>ctT	p.L202L		NM_012113	NP_036245	Q9ULX7	CAH14_HUMAN	Homo sapiens carbonic anhydrase XIV (CA14), mRNA.	202						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGAGCTGCTCCCCAAACAGC	0.522000														36			23		0	0	0.002299	0	0
MAS1L	116511	broad.mit.edu	37	6	29454838	29454838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:29454838C>T	uc011dlq.2	-	0	842	c.842G>A	c.(841-843)aGc>aAc	p.S281N		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	281						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGTGCCACGCTCAGGGGTAG	0.498000														33			7		0	0	0.003080	0	0
BMX	660	broad.mit.edu	37	X	15560224	15560224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:15560224G>A	uc004cww.3	+	14	1702	c.1514G>A	c.(1513-1515)gGa>gAa	p.G505E	BMX_uc004cwx.4_Missense_Mutation_p.G505E|BMX_uc004cwy.4_Missense_Mutation_p.G505E	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	505	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGGAGTCACGGAAAAGGACTT	0.438000														127			98		0	0	0.003610	0	0
WNT9A	7483	broad.mit.edu	37	1	228113089	228113089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:228113089G>A	uc001hri.2	-	1	315	c.227C>T	c.(226-228)cCg>cTg	p.P76L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	76					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGCCACGCCCGGGTCCCGGCG	0.701000														4			7		0	0	0.001984	0	0
SDK1	221935	broad.mit.edu	37	7	4152926	4152926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:4152926G>A	uc003smx.3	+	23	3579	c.3440G>A	c.(3439-3441)cGa>cAa	p.R1147Q	SDK1_uc010kso.3_Missense_Mutation_p.R423Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1147	Fibronectin type-III 5.				cell adhesion	integral to membrane		p.R1147*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TTTAGATTTCGAATGAAGCAA	0.537000														131			138		0	0	0.003610	0	0
PEG3	5178	broad.mit.edu	37	19	57328195	57328195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:57328195C>T	uc002qnu.2	-	6	1966	c.1615G>A	c.(1615-1617)Gaa>Aaa	p.E539K	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.E510K|PEG3_uc002qnv.2_Missense_Mutation_p.E539K|PEG3_uc002qnw.2_Missense_Mutation_p.E415K|PEG3_uc002qnx.2_Missense_Mutation_p.E413K|PEG3_uc010etr.2_Missense_Mutation_p.E539K	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	539					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)		TCCTCACATTCCTGATTCTTA	0.443000														71			21		0	0	0.001523	0	0
KLF4	9314	broad.mit.edu	37	9	110249863	110249864	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:110249863_110249864GG>AA	uc004bdh.3	-	2	1405_1406	c.784_785CC>TT	c.(784-786)ccg>TTg	p.P262L	KLF4_uc004bdf.2_Missense_Mutation_p.P221L|KLF4_uc022blk.1_Intron|KLF4_uc004bdg.3_Missense_Mutation_p.P271L	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	271	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GCACGTGCGCGGCGGCCCGCCG	0.703000														2			5		0	0	0.004672	0	0
STAT4	6775	broad.mit.edu	37	2	191905853	191905853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:191905853C>T	uc002usm.2	-	14	1588	c.1273G>A	c.(1273-1275)Gaa>Aaa	p.E425K	STAT4_uc002usn.2_Missense_Mutation_p.E425K|STAT4_uc010zgk.1_Missense_Mutation_p.E270K|STAT4_uc002uso.2_Missense_Mutation_p.E425K	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	425					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GAATGAAGTTCTTCAGTCACC	0.363000														52			24		0	0	0.003954	0	0
RAD54L2	23132	broad.mit.edu	37	3	51696606	51696606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:51696606C>T	uc011bdt.2	+	21	3699	c.3574C>T	c.(3574-3576)Cgt>Tgt	p.R1192C	RAD54L2_uc003dbh.3_Missense_Mutation_p.R781C|RAD54L2_uc011bdu.2_Missense_Mutation_p.R886C|RAD54L2_uc003dbj.3_Missense_Mutation_p.R518C	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1192						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CCGGGAATCCCGTCAGAGCTC	0.652000														27			14		0	0	0.001855	0	0
MST1P9	11223	broad.mit.edu	37	1	17085485	17085485	+	Silent	SNP	G	A	A	rs3863809	by1000genomes	TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:17085485G>A	uc010ock.2	-	9	1206	c.1206C>T	c.(1204-1206)gcC>gcT	p.A402A	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						ACCATTTCCAGGCTCTGGTCC	0.622000														57			4		0	0	0.001984	0	0
CNTN4	152330	broad.mit.edu	37	3	2924836	2924836	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:2924836G>C	uc003bpc.3	+	8	999	c.660G>C	c.(658-660)atG>atC	p.M220I	CNTN4_uc003bpb.1_Intron|CNTN4_uc021wsg.1_Missense_Mutation_p.M220I|CNTN4_uc003bpd.1_Missense_Mutation_p.M220I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	220					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAGGAGTGATGGGTGAATATG	0.373000														11			17		0	0	0.006122	0	0
PREB	10113	broad.mit.edu	37	2	27355501	27355501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:27355501G>A	uc002rix.1	-	4	975	c.722C>T	c.(721-723)tCc>tTc	p.S241F	PREB_uc002riy.1_Missense_Mutation_p.S169F	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	241					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGTGCTGGAAAAGGTGGG	0.567000														28			10		0	0	0.008291	0	0
FCRL5	83416	broad.mit.edu	37	1	157512838	157512838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:157512838C>T	uc009wsm.3	-	5	1092	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	FCRL5_uc001fqu.3_Missense_Mutation_p.E312K|FCRL5_uc010phv.1_Missense_Mutation_p.E312K|FCRL5_uc010phw.1_Missense_Mutation_p.E227K|FCRL5_uc001fqv.1_Missense_Mutation_p.E312K|FCRL5_uc010phx.2_Missense_Mutation_p.E63K	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	312	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGAGAATCTTCCTGGGTTTCA	0.512000														22			18		0	0	0.007413	0	0
HGF	3082	broad.mit.edu	37	7	81381519	81381519	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:81381519C>G	uc003uhl.3	-	4	707	c.542G>C	c.(541-543)cGa>cCa	p.R181P	HGF_uc003uhm.3_Missense_Mutation_p.R176P|HGF_uc003uhn.1_Missense_Mutation_p.R181P|HGF_uc003uho.1_Missense_Mutation_p.R176P|HGF_uc003uhp.3_Missense_Mutation_p.R181P	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	181	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTCTTCCCCTCGAGGATTTCG	0.433000														20			16		0	0	0.004990	0	0
SPRY3	10251	broad.mit.edu	37	X	155004375	155004376	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:155004375_155004376CC>TA	uc022cio.1	+	0	842_843	c.842_843CC>TA	c.(841-843)ccc>cTA	p.P281L	SPRY3_uc004fnq.1_Missense_Mutation_p.P281L	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	281					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCACCCTTCCCCAAGGCCCAGG	0.545000														42			28		0	0	0.004672	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55378096	55378096	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:55378096C>T	uc002qhl.4	+	8	1341	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	KIR3DL2_uc002qho.4_Silent_p.S426S|KIR3DL2_uc010esh.3_Silent_p.S409S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	426					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CAGATACCAGCGTGTACACGG	0.522000														101			78		0	0	0.003610	0	0
BPIFB2	80341	broad.mit.edu	37	20	31600712	31600712	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:31600712C>T	uc002wyj.3	+	4	502	c.308_splice	c.e4+1	p.R103_splice		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	103						extracellular region	lipid binding										CAAGGTCTTTCGGTGAGCGGA	0.562000														90			15		0	0	0.003163	0	0
EPN3	55040	broad.mit.edu	37	17	48614370	48614370	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:48614370G>A	uc010wms.2	+	2	806	c.618G>A	c.(616-618)aaG>aaA	p.K206K	EPN3_uc002ira.4_Silent_p.K151K|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.K151K			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	151						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TCAAGACCAAGGAGCGCATGG	0.677000														3			6		0	0	0.001168	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262587	140262588	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140262587_140262588CC>TA	uc003lif.2	+	0	734_735	c.734_735CC>TA	c.(733-735)tcc>tTA	p.S245L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.S245L|PCDHAC2_uc003lid.3_Missense_Mutation_p.S245L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	260	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTACCAATCCGTTTATAAAG	0.455000														39			5		0	0	0.004672	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	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					24			15		0	0	0.004990	0	0
NKG7	4818	broad.mit.edu	37	19	51875054	51875055	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:51875054_51875055GG>AA	uc002pwj.3	-	3	645_646	c.474_475CC>TT	c.(472-477)ccccgt>ccTTgt	p.R159C	CLDND2_uc002pwi.1_5'Flank|NKG7_uc002pwk.3_Missense_Mutation_p.R124C	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	159						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TAGCCAGGACGGGGACCGCCAC	0.584000														116			28		0	0	0.004672	0	0
OR10A3	26496	broad.mit.edu	37	11	7961032	7961032	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:7961032G>A	uc010rbi.2	-	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCAGGAGGATGAATTCAACCA	0.398000														29			5		0	0	0.001168	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170339	32170339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:32170339G>A	uc003obb.3	-	20	3408	c.3269C>T	c.(3268-3270)tCc>tTc	p.S1090F	NOTCH4_uc003oba.3_5'UTR|NOTCH4_uc011dpu.2_Intron|NOTCH4_uc011dpv.2_Intron	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1090	EGF-like 28.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.P1089T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAAGCCGCAGGAAGGGGCCCT	0.612000														107			101		0	0	0.003610	0	0
B3GALNT2	148789	broad.mit.edu	37	1	235622058	235622058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:235622058G>A	uc001hxc.2	-	7	1107	c.878C>T	c.(877-879)cCt>cTt	p.P293L		NM_152490	NP_689703	Q8NCR0	B3GL2_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA.	293					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity	p.P293L(2)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			AAGTCTTTGAGGGCGAGAATG	0.383000														21			16		0	0	0.004007	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140166314	140166314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140166314C>T	uc003lhb.2	+	0	439	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	PCDHAC2_uc003lha.2_Missense_Mutation_p.L147F|PCDHAC2_uc003lgz.3_Missense_Mutation_p.L147F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	162	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R147C(1)|p.P146L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATCTAGACTCCTGAATTC	0.448000														65			14		0	0	0.004990	0	0
CDH13	1012	broad.mit.edu	37	16	83711854	83711854	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:83711854C>T	uc010vns.2	+	10	1731	c.1467C>T	c.(1465-1467)atC>atT	p.I489I	CDH13_uc002fgx.3_Silent_p.I442I|CDH13_uc010vnt.2_Silent_p.I188I|CDH13_uc010vnu.2_Silent_p.I403I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	442	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCCTGCTGATCAAAGTGGAAA	0.552000														17			16		0	0	0.003163	0	0
CRB1	23418	broad.mit.edu	37	1	197407692	197407692	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:197407692C>T	uc001gtz.3	+	9	3974	c.3765C>T	c.(3763-3765)ccC>ccT	p.P1255P	CRB1_uc010poz.2_Silent_p.P1231P|CRB1_uc009wza.3_Silent_p.P1143P|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.P719P|CRB1_uc010ppd.2_Silent_p.P736P|CRB1_uc001gub.1_Silent_p.P904P	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1255	EGF-like 18.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAGATTACCCTCAACAGTCT	0.408000														57			14		0	0	0.003163	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609191	32609191	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:32609191G>A	uc003obr.3	+	1	240	c.187G>A	c.(187-189)Gag>Aag	p.E63K	HLA-DQA1_uc003obs.3_Non-coding_Transcript|HLA-DQA1_uc003obt.1_Missense_Mutation_p.E63K|HLA-DQA1_uc003obu.3_5'Flank|HLA-DQA1_uc021yvy.1_5'Flank	NM_002122	NP_002113	P01909	DQA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 1 (HLA-DQA1), mRNA.	63	Alpha-1.		G -> E (in allele DQA1*01:01, allele DQA1*01:02, allele DQA1*01:03, allele DQA1*01:04, allele DQA1*01:05, allele DQA1*01:06, allele DQA1*01:07, allele DQA1*02:01, allele DQA1*03:01, allele DQA1*03:02 and allele DQA1*03:03; dbSNP:rs1142323).		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			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CGTGGACCTGGAGAGGAAGGA	0.517000														51			10		0	0	0.006214	0	0
MUC2	4583	broad.mit.edu	37	11	1097738	1097738	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:1097738G>A	uc001lsx.1	+	37	6846	c.6819G>A	c.(6817-6819)gaG>gaA	p.E2273E		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4639						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAGCGGGGAGATCGTCTCCA	0.642000														14			12		0	0	0.001368	0	0
ZBTB6	10773	broad.mit.edu	37	9	125673909	125673909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:125673909G>A	uc004bnh.3	-	1	532	c.443C>T	c.(442-444)cCt>cTt	p.P148L	ZBTB6_uc022bnb.1_Missense_Mutation_p.P148L	NM_006626	NP_006617	Q15916	ZBTB6_HUMAN	Homo sapiens zinc finger and BTB domain containing 6 (ZBTB6), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CTTAACATCAGGATCAGAAGA	0.338000														25			12		0	0	0.000978	0	0
MAP3K2	10746	broad.mit.edu	37	2	128083323	128083324	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:128083323_128083324GT>AA	uc002toj.2	-	7	757_758	c.657_658AC>TT	c.(655-660)tcactt>tcTTtt	p.L220F		NM_006609	NP_006600	Q9Y2U5	M3K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 2 (MAP3K2), mRNA.	220					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		GGACTATCAAGTGATGGACAAC	0.406000														56			23		0	0	0.004672	0	0
RYR3	6263	broad.mit.edu	37	15	33955132	33955132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:33955132G>A	uc001zhi.3	+	34	5471	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	RYR3_uc010bar.3_Missense_Mutation_p.E1801K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1801	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)		TCGATTACCCGAATCCGTCAA	0.512000														95			58		0	0	0.003610	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315364	30315364	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:30315364T>C	uc009xle.2	-	2	3850	c.3713A>G	c.(3712-3714)aAa>aGa	p.K1238R	KIAA1462_uc001iux.3_Missense_Mutation_p.K1238R|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.K1100R	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1238										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTCAATCACTTTGGAAGGGCT	0.483000														30			23		0	0	0.001882	0	0
KIAA1429	25962	broad.mit.edu	37	8	95538606	95538606	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:95538606C>T	uc003ygo.2	-	7	1937	c.1866G>A	c.(1864-1866)ggG>ggA	p.G622G	KIAA1429_uc003ygp.3_Silent_p.G622G|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	622					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)			TTTCTATTTCCCCTTCACTTA	0.383000														47			14		0	0	0.002450	0	0
NID2	22795	broad.mit.edu	37	14	52496283	52496283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr14:52496283C>T	uc001wzo.3	-	9	2617	c.2383G>A	c.(2383-2385)Gat>Aat	p.D795N	NID2_uc010tqs.2_Missense_Mutation_p.D795N|NID2_uc010tqt.1_Missense_Mutation_p.D795N|NID2_uc001wzp.3_Missense_Mutation_p.D795N	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	795	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTCCGTCCATCTCCCTGGTAC	0.527000														54			27		0	0	0.007291	0	0
WRN	7486	broad.mit.edu	37	8	30948414	30948414	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:30948414C>T	uc003xio.4	+	14	2573	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	WRN_uc010lvk.3_Silent_p.I62I	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	595	Helicase ATP-binding.				DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GCCTTGTTATCTCTCCCCTTA	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					52			12		0	0	0.003163	0	0
EMD	2010	broad.mit.edu	37	X	153608118	153608118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:153608118C>T	uc004fkl.3	+	1	399	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S		NM_000117	NP_000108	P50402	EMD_HUMAN	Homo sapiens emerin (EMD), mRNA.	51	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCTCTCGCCCCCCAGCTCGTC	0.672000														34			12		0	0	0.000978	0	0
ERAP2	64167	broad.mit.edu	37	5	96225001	96225001	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:96225001C>T	uc003kmq.3	+	4	1672	c.962C>T	c.(961-963)tCc>tTc	p.S321F	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.S321F|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.S270F|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	321					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TATCCACTCTCCAAACTGGGT	0.353000														46			20		0	0	0.001882	0	0
NCAPH2	29781	broad.mit.edu	37	22	50961485	50961485	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:50961485C>T	uc003blx.4	+	18	1692	c.1570C>T	c.(1570-1572)Cag>Tag	p.Q524*	NCAPH2_uc003blv.3_Nonsense_Mutation_p.Q523*|NCAPH2_uc003blr.4_Nonsense_Mutation_p.Q523*	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	523					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CTATGGGGACCAGCTGGTCTC	0.642000														17			7		0	0	0.001984	0	0
UGT3A1	133688	broad.mit.edu	37	5	35954476	35954476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:35954476C>T	uc003jjv.2	-	6	1593	c.1400G>A	c.(1399-1401)gGa>gAa	p.G467E	UGT3A1_uc003jjw.2_Non-coding_Transcript	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	467						integral to membrane	glucuronosyltransferase activity	p.G466W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGCGTCGCTCCCCCAGTCTG	0.607000														14			24		0	0	0.003330	0	0
ZNF683	257101	broad.mit.edu	37	1	26691377	26691377	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:26691377G>A	uc001bmg.1	-	3	778	c.660C>T	c.(658-660)ctC>ctT	p.L220L	ZNF683_uc001bmh.1_Silent_p.L220L|ZNF683_uc009vsj.1_Silent_p.L220L	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GGGGCAGCATGAGGAGGTGGG	0.617000														33			27		0	0	0.007291	0	0
NCAN	1463	broad.mit.edu	37	19	19338385	19338385	+	Silent	SNP	C	T	T	rs149325641		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:19338385C>T	uc002nlz.3	+	7	2055	c.1956C>T	c.(1954-1956)acC>acT	p.T652T	NCAN_uc010ecc.1_Silent_p.T216T	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	652					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CCATCTCCACCGAGGCCAATA	0.617000														50			17		0	0	0.004990	0	0
C11orf16	56673	broad.mit.edu	37	11	8942870	8942870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:8942870G>A	uc001mhb.4	-	5	1521	c.1397C>T	c.(1396-1398)tCc>tTc	p.S466F	C11orf16_uc001mhc.4_Intron	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	466								p.S466Y(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGTCTAACGGGAATTCTTGTT	0.522000														30			31		0	0	0.002836	0	0
CCDC33	80125	broad.mit.edu	37	15	74623062	74623062	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:74623062G>A	uc002axo.3	+	12	1909	c.1515G>A	c.(1513-1515)agG>agA	p.R505R	CCDC33_uc002axp.3_Silent_p.R327R|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.R98R|CCDC33_uc002axr.3_Silent_p.R98R	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	708							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGAGGGACAGGGTGCAGCATT	0.572000														30			9		0	0	0.006214	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990464	15990464	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:15990464T>C	uc002nbs.1	-	10	1314	c.1264A>G	c.(1264-1266)Atc>Gtc	p.I422V	CYP4F2_uc010xot.1_Missense_Mutation_p.I273V	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	422					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAAACACTGATGAGGCAGATA	0.597000														48			35		0	0	0.004878	0	0
CHAC2	494143	broad.mit.edu	37	2	53995093	53995093	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:53995093T>A	uc002rxk.1	+	0	165	c.70T>A	c.(70-72)Tac>Aac	p.Y24N	GPR75-ASB3_uc021vhl.1_Intron|GPR75-ASB3_uc002rxg.2_Intron|GPR75-ASB3_uc002rxh.2_Intron|GPR75-ASB3_uc002rxi.4_Intron|GPR75-ASB3_uc010yoo.2_Intron	NM_001008708	NP_001008708	Q8WUX2	CHAC2_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 2 (E. coli) (CHAC2), mRNA.	24										endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCTGGTCGGATACATCACCAA	0.627000											OREG0014616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			7		0	0	0.001984	0	0
PCDP1	200373	broad.mit.edu	37	2	120369228	120369228	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:120369228G>A	uc002tmb.3	+	14	1476	c.364_splice	c.e14-1	p.L122_splice	PCDP1_uc010yyq.2_Splice_Site_p.L252_splice	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	408						cilium	calmodulin binding					Colorectal(110;0.196)					TAAAAACCCAGCTAGACAGAG	0.348000														28			9		0	0	0.008291	0	0
GRIA3	2892	broad.mit.edu	37	X	122387391	122387391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:122387391G>A	uc004etq.4	+	2	798	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GRIA3_uc004etr.4_Missense_Mutation_p.R169Q|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.R153Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	169					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GACACAGAACGAGGTAAGAAG	0.433000														35			12		0	0	0.004990	0	0
DNAH2	146754	broad.mit.edu	37	17	7708669	7708669	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:7708669C>T	uc002giu.1	+	59	9414	c.9400C>T	c.(9400-9402)Cga>Tga	p.R3134*	DNAH2_uc010cnm.1_Nonsense_Mutation_p.R72*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3134	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGATTCTTCGAGGCAACGA	0.507000														33			8		0	0	0.004482	0	0
GLIS1	148979	broad.mit.edu	37	1	53995556	53995556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:53995556C>T	uc001cvr.1	-	3	1432	c.865G>A	c.(865-867)Gag>Aag	p.E289K		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	289					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	p.E289Q(2)|p.E289K(2)		endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TACGGCTTCTCGCCCGTGTGG	0.637000														25			6		0	0	0.001984	0	0
JUP	3728	broad.mit.edu	37	17	39680045	39680045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:39680045C>T	uc010wfs.2	-	8	1650	c.1642G>A	c.(1642-1644)Gag>Aag	p.E548K	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Missense_Mutation_p.E385K	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCCTGTCCCTCGAGCAGGCTG	0.577000														21			5		0	0	0.000602	0	0
THSD7B	80731	broad.mit.edu	37	2	137852477	137852477	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:137852477C>T	uc002tva.1	+	2	892	c.892C>T	c.(892-894)Cag>Tag	p.Q298*	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Nonsense_Mutation_p.Q188*	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)		ATTGACTGTTCAGTCCTGCAT	0.458000														99			7		0	0	0.004482	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30952022	30952022	+	Missense_Mutation	SNP	G	A	A	rs148732637		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:30952022G>A	uc003aig.1	-	3	330	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	GAL3ST1_uc003aih.1_Missense_Mutation_p.R64W|GAL3ST1_uc003aii.1_Missense_Mutation_p.R64W|GAL3ST1_uc010gvz.1_Missense_Mutation_p.R64W	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	64					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.R64L(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCGTTGGCCCGGATCACTGCC	0.677000														28			18		0	0	0.006320	0	0
ZNF423	23090	broad.mit.edu	37	16	49669774	49669774	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:49669774C>T	uc002efs.3	-	4	3587	c.3289G>A	c.(3289-3291)Gcc>Acc	p.A1097T	ZNF423_uc010vgn.2_Missense_Mutation_p.A980T	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	1097					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCGCTGCGGGCCATGCAGCCG	0.687000														8			11		0	0	0.000978	0	0
OR4C6	219432	broad.mit.edu	37	11	55433349	55433349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:55433349C>T	uc010rik.2	+	0	707	c.707C>T	c.(706-708)tCt>tTt	p.S236F		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						AAAGCCCTCTCTACCTGCAGC	0.493000														52			13		0	0	0.002450	0	0
ARSF	416	broad.mit.edu	37	X	3030306	3030306	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:3030306C>T	uc022brz.1	+	10	1618	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	ARSF_uc004cre.2_Silent_p.F494F|ARSF_uc004crf.2_Silent_p.F494F	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	494						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCAGATGTTTCGGAGAACAGG	0.572000														108			41		0	0	0.003610	0	0
FLT3	2322	broad.mit.edu	37	13	28588639	28588640	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:28588639_28588640GG>AA	uc001urw.3	-	22	2890_2891	c.2808_2809CC>TT	c.(2806-2811)ttccct>ttTTct	p.P937S	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.P896S	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	937	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)	GTCAAATTAGGGAAGGATGGCC	0.396000			"""Mis, O"""		"""AML, ALL"""									29			13		0	0	0.004672	0	0
PAPPA	5069	broad.mit.edu	37	9	118974139	118974139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:118974139G>A	uc004bjn.3	+	3	2227	c.1846G>A	c.(1846-1848)Ggg>Agg	p.G616R	PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	616					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TGGTGACCCAGGGCCAGGAAA	0.532000														126			33		0	0	0.002445	0	0
KIAA0513	9764	broad.mit.edu	37	16	85105471	85105471	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:85105471C>T	uc002fiu.3	+	2	632	c.412C>T	c.(412-414)Cga>Tga	p.R138*	KIAA0513_uc010voj.2_Nonsense_Mutation_p.R138*|KIAA0513_uc002fit.3_Nonsense_Mutation_p.R138*	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	138						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GTGGTTTGCTCGATACGTGAG	0.453000														22			11		0	0	0.001368	0	0
NLRP7	199713	broad.mit.edu	37	19	55452999	55452999	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:55452999G>A	uc002qih.4	-	1	157	c.81C>T	c.(79-81)tcC>tcT	p.S27S	NLRP7_uc010esk.3_Silent_p.S27S|NLRP7_uc002qig.4_Silent_p.S27S|NLRP7_uc002qii.4_Silent_p.S27S|NLRP7_uc010esl.3_Silent_p.S55S	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	27	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CCCATAAAAGGGATTTGAAAC	0.502000														27			10		0	0	0.000978	0	0
MYOM1	8736	broad.mit.edu	37	18	3116406	3116406	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr18:3116406C>T	uc002klp.3	-	20	3560	c.3226G>A	c.(3226-3228)Gac>Aac	p.D1076N	MYOM1_uc002klq.3_Missense_Mutation_p.D980N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1076	Fibronectin type-III 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCTTCAAGTCCACGAAGTAA	0.537000														20			10		0	0	0.008291	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338177	13338177	+	RNA	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:13338177C>T	uc003gms.3	+	0		c.3141C>T								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						TTGCCCAACTCATGTCTCTTA	0.418000														23			10		0	0	0.008291	0	0
ZNF732	654254	broad.mit.edu	37	4	266152	266152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:266152C>T	uc021xka.1	-	3	494	c.494G>A	c.(493-495)gGa>gAa	p.G165E	ZNF732_uc011buu.1_Missense_Mutation_p.G133E	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						GTGTTTCTCTCCAGTATGTCT	0.358000														6			3		0	0	0.004672	0	0
INTS1	26173	broad.mit.edu	37	7	1517449	1517449	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:1517449G>A	uc003skn.2	-	33	4855	c.4754C>T	c.(4753-4755)tCc>tTc	p.S1585F		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1585					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGCAGCAGGGAGCTCACCAC	0.687000														17			24		0	0	0.004656	0	0
PKDREJ	10343	broad.mit.edu	37	22	46655878	46655879	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:46655878_46655879CC>TT	uc003bhh.3	-	0	3341_3342	c.3341_3342GG>AA	c.(3340-3342)tgg>tAA	p.W1114*		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1114					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AACCCTCTCTCCATTCACTCTG	0.490000														43			16		0	0	0.004672	0	0
OR2T33	391195	broad.mit.edu	37	1	248436229	248436229	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:248436229C>T	uc010pzi.2	-	0	888	c.888G>A	c.(886-888)aaG>aaA	p.K296K		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			TCAGGGCTCCCTTCACCTCAC	0.458000														63			38		0	0	0.002222	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105915055	105915055	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:105915055C>G	uc002tcq.3	-	2	880	c.796G>C	c.(796-798)Gaa>Caa	p.E266Q	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.E36Q|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.E266Q	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	266	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTGATGAATTCGTCATCGAGC	0.542000														66			25		0	0	0.007291	0	0
DNAH9	1770	broad.mit.edu	37	17	11650910	11650910	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:11650910C>T	uc002gne.3	+	31	6505	c.6437C>T	c.(6436-6438)tCt>tTt	p.S2146F	DNAH9_uc010coo.3_Missense_Mutation_p.S1440F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2146	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGCGGCACTCTGTATTTGTG	0.597000														18			11		0	0	0.002450	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52924079	52924079	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:52924079A>G	uc001cty.2	-	19	3617	c.3364T>C	c.(3364-3366)Tat>Cat	p.Y1122H	ZCCHC11_uc001ctx.2_Missense_Mutation_p.Y1122H|ZCCHC11_uc009vze.1_Missense_Mutation_p.Y1122H|ZCCHC11_uc009vzf.1_Intron	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1122					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						ATATATGCATATGAAGATAAA	0.388000														42			25		0	0	0.005443	0	0
LAMB4	22798	broad.mit.edu	37	7	107756451	107756451	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:107756451C>T	uc010ljo.1	-	2	274	c.190G>A	c.(190-192)Gag>Aag	p.E64K	LAMB4_uc003vey.2_Missense_Mutation_p.E64K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	64	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAACCCACCTCCAGGTAACTG	0.478000														23			26		0	0	0.003954	0	0
BTBD9	114781	broad.mit.edu	37	6	38560556	38560556	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:38560556G>A	uc003ooa.4	-	4	1186	c.610C>T	c.(610-612)Cta>Tta	p.L204L	BTBD9_uc010jwv.3_Silent_p.L145L|BTBD9_uc003ony.4_Silent_p.L136L|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.L204L	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	204	BACK.				cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AATAAGGCTAGGAAAATATCT	0.383000														19			13		0	0	0.001855	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140262124	140262124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140262124G>A	uc003lif.2	+	0	271	c.271G>A	c.(271-273)Gac>Aac	p.D91N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.D91N|PCDHAC2_uc003lid.3_Missense_Mutation_p.D91N	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	106	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D91N(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTCGGATCGACCGCGAGGA	0.592000														94			56		0	0	0.003610	0	0
BCL6	604	broad.mit.edu	37	3	187449569	187449569	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:187449569G>A	uc003frp.3	-	3	768	c.311C>T	c.(310-312)gCt>gTt	p.A104V	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.A104V|BCL6_uc010hza.2_Missense_Mutation_p.A2V|BCL6_uc003frq.2_Missense_Mutation_p.A104V	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	104					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGCCATCACAGCCATGATGTT	0.527000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									37			29		0	0	0.002836	0	0
IL17D	53342	broad.mit.edu	37	13	21296055	21296055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:21296055C>T	uc001unm.3	+	2	679	c.571C>T	c.(571-573)Ctc>Ttc	p.L191F		NM_138284	NP_612141	Q8TAD2	IL17D_HUMAN	Homo sapiens interleukin 17D (IL17D), mRNA.	191					inflammatory response	extracellular space	cytokine activity			endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		GGGCGCCAAGCTCCTGCTGGG	0.721000														19			13		0	0	0.001855	0	0
LRRC31	79782	broad.mit.edu	37	3	169557996	169557996	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:169557996C>G	uc003fgc.1	-	8	1498	c.1433G>C	c.(1432-1434)cGg>cCg	p.R478P	LRRC31_uc010hwp.1_Missense_Mutation_p.R422P	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	478								p.V477L(1)		cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TTTGAGGAACCGCACGTTTTG	0.473000														37			23		0	0	0.003954	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111697959	111697959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:111697959G>A	uc022cct.1	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I	ZCCHC16_uc004epo.1_Missense_Mutation_p.M1I	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	1							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATAATGGAGAAGTGCA	0.468000														61			29		0	0	0.004878	0	0
DOPEY2	9980	broad.mit.edu	37	21	37623502	37623502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr21:37623502G>A	uc002yvg.3	+	21	5120	c.5041G>A	c.(5041-5043)Gcc>Acc	p.A1681T	DOPEY2_uc011aeb.2_Missense_Mutation_p.A1630T|DOPEY2_uc002yvh.3_Missense_Mutation_p.A532T	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1681					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCCCTTGACGGCCCATCTTGG	0.413000														70			17		0	0	0.006122	0	0
GTF3C5	9328	broad.mit.edu	37	9	135927462	135927463	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:135927462_135927463CC>TT	uc004ccj.4	+	4	1121_1122	c.784_785CC>TT	c.(784-786)ccc>TTc	p.P262F	GTF3C5_uc010mzz.2_Missense_Mutation_p.P137F|GTF3C5_uc004cci.4_Missense_Mutation_p.P262F	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	262						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGACATCCGTCCCATCTGGTCC	0.564000														20			15		0	0	0.004672	0	0
SPEG	10290	broad.mit.edu	37	2	220309693	220309693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:220309693C>T	uc010fwg.3	+	2	625	c.625C>T	c.(625-627)Ccg>Tcg	p.P209S	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	209					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)		CCGCCGCCTCCCGGGCAGCCC	0.716000														7			6		0	0	0.001168	0	0
RRM1	6240	broad.mit.edu	37	11	4153577	4153577	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:4153577C>T	uc001lyw.4	+	15	2150	c.1831C>T	c.(1831-1833)Ctg>Ttg	p.L611L	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Silent_p.L571L|RRM1_uc010qyc.2_Silent_p.L514L|RRM1_uc010qyd.2_Silent_p.L273L	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	611					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TGCTCAGATCCTGGGGAATAA	0.438000														38			10		0	0	0.006214	0	0
OR9A2	135924	broad.mit.edu	37	7	142723902	142723902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:142723902C>T	uc003wcc.1	-	0	318	c.318G>A	c.(316-318)atG>atA	p.M106I		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATGCAAACTCCATGGTCCCAC	0.458000														18			16		0	0	0.003163	0	0
ZNF786	136051	broad.mit.edu	37	7	148769064	148769065	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:148769064_148769065GG>AA	uc003wfh.2	-	3	936_937	c.799_800CC>TT	c.(799-801)ccc>TTc	p.P267F	ZNF786_uc011kuk.1_Missense_Mutation_p.P230F|ZNF786_uc003wfi.2_Missense_Mutation_p.P181F	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTTCCGGAAGGGGCCCCTCCCC	0.678000														11			7		0	0	0.004672	0	0
FBXL7	23194	broad.mit.edu	37	5	15936615	15936615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:15936615C>T	uc003jfn.1	+	3	1277	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	266					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TAAACTGTCACCCTTGCATGG	0.572000														31			13		0	0	0.001368	0	0
SFRP2	6423	broad.mit.edu	37	4	154709489	154709489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:154709489C>T	uc003inv.1	-	0	740	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	167					brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GGCTTACCTTCCTCGGTGGCT	0.652000														22			17		0	0	0.006122	0	0
CLEC4C	170482	broad.mit.edu	37	12	7890135	7890135	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:7890135G>A	uc001qtg.1	-	3	445	c.271C>T	c.(271-273)Cag>Tag	p.Q91*	CLEC4C_uc001qth.1_Nonsense_Mutation_p.Q91*|CLEC4C_uc001qti.1_Nonsense_Mutation_p.Q60*	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	91	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CAACTAGACTGAAATGAAGTC	0.403000														38			32		0	0	0.004289	0	0
BTBD11	121551	broad.mit.edu	37	12	108013885	108013885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:108013885G>A	uc001tmk.1	+	10	3096	c.2575G>A	c.(2575-2577)Gag>Aag	p.E859K	BTBD11_uc009zut.1_Missense_Mutation_p.E740K|BTBD11_uc001tmj.3_Missense_Mutation_p.E859K|BTBD11_uc001tml.1_Missense_Mutation_p.E396K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	859						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GGAATACACGGAGGAGCTCGT	0.532000														24			18		0	0	0.001882	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64085191	64085191	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:64085191G>A	uc003dmf.3	-	7	2657	c.2071C>T	c.(2071-2073)Cga>Tga	p.R691*		NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN	Homo sapiens prickle homolog 2 (Drosophila) (PRICKLE2), mRNA.	691	Arg-rich.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CGAGAGCGTCGGGAACGCCTG	0.632000														39			16		0	0	0.001523	0	0
CDH9	1007	broad.mit.edu	37	5	26916004	26916004	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:26916004C>T	uc003jgs.1	-	2	426	c.257G>A	c.(256-258)gGa>gAa	p.G86E	CDH9_uc010iug.3_Missense_Mutation_p.G86E	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	86	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D85D(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTTAAATTTCCATCTCCTTT	0.338000														53			17		0	0	0.004990	0	0
OR13C4	138804	broad.mit.edu	37	9	107288604	107288604	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:107288604T>A	uc011lvn.2	-	0	887	c.887A>T	c.(886-888)tAt>tTt	p.Y296F		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TCTCAAGCTATAGATTATGGG	0.398000														25			21		0	0	0.008871	0	0
EPPK1	83481	broad.mit.edu	37	8	144940534	144940534	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:144940534G>A	uc003zaa.1	-	0	6901	c.6888C>T	c.(6886-6888)atC>atT	p.I2296I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2296						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)			GCTTCTCCTGGATCTCGCCGC	0.701000														75			7		0	0	0.003080	0	0
ARF4	378	broad.mit.edu	37	3	57569729	57569729	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:57569729T>C	uc003dix.4	-	2	502	c.154A>G	c.(154-156)Aat>Gat	p.N52D		NM_001660	NP_001651	P18085	ARF4_HUMAN	Homo sapiens ADP-ribosylation factor 4 (ARF4), mRNA.	52					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus	GTP binding|GTPase activity			large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0449)|Kidney(284;0.0561)		GTTTCCACATTAAAACCTACA	0.333000														44			17		0	0	0.006122	0	0
GNL3	26354	broad.mit.edu	37	3	52724988	52724989	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:52724988_52724989CC>TT	uc003dfd.3	+	7	855_856	c.682_683CC>TT	c.(682-684)cca>TTa	p.P228L	GNL3_uc003dfe.3_Missense_Mutation_p.P216L|GNL3_uc003dff.3_Missense_Mutation_p.P216L|SNORD69_uc003dfh.1_5'Flank	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	228					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GAATGCTGCTCCATTCAGAAGT	0.421000														29			20		0	0	0.004672	0	0
PIGO	84720	broad.mit.edu	37	9	35092421	35092421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:35092421G>A	uc003zwd.3	-	6	1859	c.1463C>T	c.(1462-1464)gCc>gTc	p.A488V	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Missense_Mutation_p.A51V	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	488					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGCCCCAGGCCACAGGTGT	0.562000														24			18		0	0	0.008871	0	0
MAPKBP1	23005	broad.mit.edu	37	15	42104844	42104844	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:42104844C>T	uc001zok.4	+	6	915	c.629C>T	c.(628-630)aCc>aTc	p.T210I	MAPKBP1_uc010bci.3_Missense_Mutation_p.T210I|MAPKBP1_uc010udb.2_Missense_Mutation_p.T98I|MAPKBP1_uc001zoj.4_Missense_Mutation_p.T210I|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	210										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GACAGCAAGACCTCAAAGGTG	0.577000														26			13		0	0	0.002450	0	0
FREM2	341640	broad.mit.edu	37	13	39263084	39263084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:39263084C>T	uc001uwv.3	+	0	1912	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	535					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCTGGTGCTTCGCATGGTGGA	0.587000														15			5		0	0	0.000602	0	0
ELL3	80237	broad.mit.edu	37	15	44068348	44068348	+	Splice_Site	SNP	T	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:44068348T>A	uc001zsw.1	-	3	572	c.169_splice	c.e3-1	p.Y57_splice	ELL3_uc001zsv.1_Missense_Mutation_p.Y11F|ELL3_uc001zsx.1_Splice_Site|SERF2_uc001zsy.3_5'Flank|SERF2_uc001zsz.4_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.	57					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		GAGTCTCAGATACTGGGGGTG	0.607000														16			7		0	0	0.001984	0	0
NSMCE1	197370	broad.mit.edu	37	16	27238131	27238131	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:27238131G>A	uc002doi.1	-	5	608	c.510C>T	c.(508-510)ggC>ggT	p.G170G	NSMCE1_uc002doj.1_Non-coding_Transcript	NM_145080	NP_659547	Q8WV22	NSE1_HUMAN	Homo sapiens non-SMC element 1 homolog (S. cerevisiae) (NSMCE1), mRNA.	170					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GGATGGCCCGGCCGTGCAGGG	0.612000														50			34		0	0	0.006230	0	0
RAB39B	116442	broad.mit.edu	37	X	154490183	154490184	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:154490183_154490184GG>AA	uc004fne.3	-	1	825_826	c.546_547CC>TT	c.(544-549)atccag>atTTag	p.Q183*		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	183					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGCCCTCCTGGATTGTAATCT	0.460000														56			29		0	0	0.004672	0	0
RFX6	222546	broad.mit.edu	37	6	117245850	117245850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:117245850G>A	uc003pxm.3	+	14	1637	c.1574G>A	c.(1573-1575)cGa>cAa	p.R525Q		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	525					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.R525Q(2)|p.R525*(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CATTTGATTCGAATGCTTCTC	0.383000														16			22		0	0	0.001882	0	0
DAB2	1601	broad.mit.edu	37	5	39383123	39383123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:39383123G>A	uc003jlx.3	-	9	1469	c.938C>T	c.(937-939)tCt>tTt	p.S313F	DAB2_uc003jlw.3_Missense_Mutation_p.S292F	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	313					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			AGATTTGAGAGAATCAAACGA	0.463000														95			28		0	0	0.008361	0	0
OR5M11	219487	broad.mit.edu	37	11	56310479	56310479	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:56310479G>A	uc010rjl.2	-	0	255	c.255C>T	c.(253-255)atC>atT	p.I85I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCAGATACGATATTAGTCG	0.448000														28			22		0	0	0.001882	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54930841	54930841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:54930841G>A	uc003dhf.3	+	25	2360	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q	CACNA2D3_uc003dhg.1_Missense_Mutation_p.R677Q|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	771						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTCTGGTACCGAAGAGCCGCT	0.522000														47			39		0	0	0.006230	0	0
DNAH5	1767	broad.mit.edu	37	5	13753560	13753560	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:13753560C>T	uc003jfd.2	-	62	10696	c.10654G>A	c.(10654-10656)Gcc>Acc	p.A3552T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3552					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)					ATTTTCCGGGCTTTCATTTCC	0.408000									Kartagener syndrome					95			33		0	0	0.004289	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338908	13338908	+	RNA	SNP	T	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:13338908T>G	uc003gms.3	+	0		c.3872T>G								Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene (HSP90AB2P), non-coding RNA.											kidney(3)|lung(1)	4						agaagaaaactaagaagatca	0.398000														13			4		0	0	0.000248	0	0
WIPI2	26100	broad.mit.edu	37	7	5256236	5256236	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:5256236A>G	uc003snv.3	+	4	640	c.424A>G	c.(424-426)Att>Gtt	p.I142V	WIPI2_uc003snw.3_Missense_Mutation_p.I142V|WIPI2_uc003snx.3_Missense_Mutation_p.I124V|WIPI2_uc003sny.3_Missense_Mutation_p.I124V|WIPI2_uc010ksv.3_5'UTR|WIPI2_uc003snz.3_Missense_Mutation_p.I83V|WIPI2_uc003soa.3_Missense_Mutation_p.I83V	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	142					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		CATCCACAACATTCGGGACAT	0.517000														27			30		0	0	0.004289	0	0
FLT1	2321	broad.mit.edu	37	13	29004199	29004200	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:29004199_29004200GG>AA	uc001usb.3	-	7	1378_1379	c.1093_1094CC>TT	c.(1093-1095)ccg>TTg	p.P365L	FLT1_uc010aar.1_Missense_Mutation_p.P365L|FLT1_uc001usc.3_Missense_Mutation_p.P365L|FLT1_uc010tdp.1_Missense_Mutation_p.P365L	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	365	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.P365P(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACAACTTCCGGCGAGGGAAAT	0.450000														55			25		0	0	0.004672	0	0
FYN	2534	broad.mit.edu	37	6	112017611	112017612	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:112017611_112017612CC>TT	uc003pvj.3	-	8	1250_1251	c.910_911GG>AA	c.(910-912)ggc>AAc	p.G304N	FYN_uc003pvi.3_Missense_Mutation_p.G249N|FYN_uc003pvk.3_Missense_Mutation_p.G304N|FYN_uc003pvh.3_Missense_Mutation_p.G301N|FYN_uc010kdy.1_Intron	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	304	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	GGACATTGTGCCTGGTTTAAGA	0.455000														12			12		0	0	0.004672	0	0
PALMD	54873	broad.mit.edu	37	1	100155218	100155218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:100155218C>T	uc001dsg.3	+	6	1845	c.1402C>T	c.(1402-1404)Ccc>Tcc	p.P468S		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	468					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		CCCCATAGCTCCCCATAGTCA	0.478000														7			6		0	0	0.001984	0	0
SEC14L1	6397	broad.mit.edu	37	17	75190974	75190974	+	Silent	SNP	C	T	T	rs138582657		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:75190974C>T	uc010dhc.3	+	6	1010	c.690C>T	c.(688-690)ccC>ccT	p.P230P	SEC14L1_uc021udv.1_Silent_p.P230P|SEC14L1_uc021udw.1_Silent_p.P230P|SEC14L1_uc021udx.1_Silent_p.P230P|SEC14L1_uc002jto.3_Silent_p.P230P|SEC14L1_uc010wth.2_Silent_p.P230P|SEC14L1_uc002jtm.3_Silent_p.P230P|SEC14L1_uc010wti.2_Silent_p.P196P	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	230					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CACCTGAGCCCGTGGTGGGCA	0.632000														50			39		0	0	0.004878	0	0
BRCA2	675	broad.mit.edu	37	13	32906615	32906615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:32906615C>T	uc001uub.1	+	9	1227	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	BRCA2_uc001uua.1_Missense_Mutation_p.H211Y	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	334					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAAAATTTTCCATGAAGCAAA	0.294000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				75			35		0	0	0.002836	0	0
MTMR14	64419	broad.mit.edu	37	3	9743588	9743588	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:9743588C>T	uc003brz.3	+	18	2035	c.1884C>T	c.(1882-1884)gcC>gcT	p.A628A	MTMR14_uc003bsa.3_Silent_p.A576A|MTMR14_uc003bsb.3_Silent_p.A516A|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Silent_p.A270A|MTMR14_uc003bsc.3_Non-coding_Transcript|MTMR14_uc021wss.1_Silent_p.A199A|CPNE9_uc003bsd.3_5'Flank|CPNE9_uc021wst.1_5'Flank	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	628						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CTTCCGGTGCCATCGGGGGCC	0.612000														59			21		0	0	0.004656	0	0
ASIC5	51802	broad.mit.edu	37	4	156784842	156784842	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:156784842C>T	uc003ipe.1	-	1	152	c.105G>A	c.(103-105)aaG>aaA	p.K35K		NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN	Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.	35						integral to membrane|plasma membrane											GGTCAAACTTCTTTCGCTCAG	0.418000														48			14		0	0	0.003163	0	0
PREX2	80243	broad.mit.edu	37	8	68999972	68999972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:68999972C>T	uc003xxv.1	+	18	2068	c.2041C>T	c.(2041-2043)Cca>Tca	p.P681S	PREX2_uc003xxu.1_Missense_Mutation_p.P681S|PREX2_uc011lez.1_Missense_Mutation_p.P616S	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	681	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTGAAAATTCCAGATTCAGC	0.428000														50			17		0	0	0.001523	0	0
METTL19	152992	broad.mit.edu	37	4	8469649	8469649	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:8469649C>T	uc003glg.2	+	8	1521	c.1503C>T	c.(1501-1503)ctC>ctT	p.L501L	METTL19_uc003glf.1_Silent_p.L260L|METTL19_uc003glh.1_Silent_p.L109L	NM_152544	NP_689757	Q8IYL2	TRM44_HUMAN	Homo sapiens methyltransferase like 19 (METTL19), transcript variant 2, mRNA.	501					tRNA processing	cytoplasm	methyltransferase activity|nucleic acid binding|zinc ion binding			kidney(1)|lung(6)|ovary(3)|prostate(1)	11						AGGTCTGTCTCGTTGGAAAAT	0.468000														50			5		0	0	0.001984	0	0
SPEN	23013	broad.mit.edu	37	1	16257957	16257957	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:16257957C>T	uc001axk.1	+	10	5426	c.5222C>T	c.(5221-5223)tCg>tTg	p.S1741L	SPEN_uc010obp.1_Missense_Mutation_p.S1700L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	1741					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.S1741L(2)|p.S1741S(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCCGGGGCCTCGTTTTCCCAG	0.562000														195			25		0	0	0.004656	0	0
DOK3	79930	broad.mit.edu	37	5	176932020	176932020	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:176932020C>T	uc003mhk.3	-	3	637	c.632G>A	c.(631-633)tGg>tAg	p.W211*	DOK3_uc003mhh.4_Nonsense_Mutation_p.W41*|DOK3_uc003mhi.4_Nonsense_Mutation_p.W155*|DOK3_uc003mhj.4_Nonsense_Mutation_p.W53*	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	211						cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ACCTTCCTGCCAGGAGGAGTA	0.627000														68			13		0	0	0.003163	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128347848	128347848	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:128347848C>T	uc004bpv.3	-	4	990	c.657G>A	c.(655-657)cgG>cgA	p.R219R	MAPKAP1_uc011lzt.2_Silent_p.R22R|MAPKAP1_uc010mwz.3_Non-coding_Transcript|MAPKAP1_uc011lzu.2_Silent_p.R27R|MAPKAP1_uc011lzv.2_Silent_p.R22R|MAPKAP1_uc004bpw.3_Silent_p.R27R|MAPKAP1_uc004bpx.3_Silent_p.R27R|MAPKAP1_uc004bpy.3_Silent_p.R219R|MAPKAP1_uc004bpz.3_Silent_p.R219R|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc010mxb.1_Silent_p.R22R|MAPKAP1_uc004bqa.3_Silent_p.R219R|MAPKAP1_uc010mxc.1_Silent_p.R91R	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	219					T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	p.R219L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						GCTTCGGCTCCCGTCCTTCGC	0.542000														38			10		0	0	0.001368	0	0
IFNA16	3449	broad.mit.edu	37	9	21217173	21217173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:21217173C>T	uc003zor.1	-	0	138	c.132G>A	c.(130-132)atG>atA	p.M44I	IFNA14_uc003zoo.1_Intron	NM_002173	NP_002164	P05015	IFN16_HUMAN	Homo sapiens interferon, alpha 16 (IFNA16), mRNA.	44					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		AGATTCTTCCCATTTGTGCCA	0.507000														25			49		0	0	0.003610	0	0
SOX5	6660	broad.mit.edu	37	12	23818467	23818467	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:23818467G>A	uc001rfw.3	-	6	944	c.842C>T	c.(841-843)cCc>cTc	p.P281L	SOX5_uc001rfx.3_Missense_Mutation_p.P268L|SOX5_uc001rfy.3_Missense_Mutation_p.P268L|SOX5_uc010siv.2_Missense_Mutation_p.P268L|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P233L	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	281					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P281P(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGGGAATACGGGAATCATTAA	0.512000														47			40		0	0	0.002852	0	0
HMG20A	10363	broad.mit.edu	37	15	77759465	77759465	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:77759465A>G	uc002bcr.3	+	4	467	c.266A>G	c.(265-267)aAa>aGa	p.K89R	HMG20A_uc002bcs.3_Missense_Mutation_p.K89R	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	89					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GGTTGGTCCAAAGGAAGAAAG	0.413000														32			4		0	0	0.000248	0	0
SLC24A6	80024	broad.mit.edu	37	12	113759054	113759054	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:113759054C>T	uc001tvc.3	-	2	466	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	SLC24A6_uc001tvd.1_Missense_Mutation_p.G86S|SLC24A6_uc001tuz.3_5'Flank|SLC24A6_uc001tva.3_5'Flank|SLC24A6_uc001tvb.3_5'Flank	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	86					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						CAGAAGATGCCTTCCAGGTAG	0.627000														59			16		0	0	0.004007	0	0
DRAM2	128338	broad.mit.edu	37	1	111660801	111660801	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:111660801A>G	uc001ead.4	-	8	1039	c.782T>C	c.(781-783)cTa>cCa	p.L261P	DRAM2_uc001eae.4_Missense_Mutation_p.L261P|DRAM2_uc009wfy.3_Non-coding_Transcript	NM_178454	NP_848549	Q6UX65	DRAM2_HUMAN	Homo sapiens DNA-damage regulated autophagy modulator 2 (DRAM2), mRNA.	261					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane		p.R260Q(1)		endometrium(1)|large_intestine(5)|lung(3)	9						TCTGGAAAGTAGCCGTGTTCG	0.378000														39			20		0	0	0.001882	0	0
NPAS4	266743	broad.mit.edu	37	11	66191325	66191325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:66191325C>T	uc001ohx.1	+	6	1140	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F	NPAS4_uc010rpc.1_Missense_Mutation_p.L112F	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	322					transcription, DNA-dependent		DNA binding|signal transducer activity	p.L322L(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						AGCCTGGAGCCTCCGCCAGCA	0.547000														53			23		0	0	0.003330	0	0
HIAT1	64645	broad.mit.edu	37	1	100546081	100546081	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:100546081C>T	uc001dst.3	+	10	1132	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*		NM_033055	NP_149044	Q96MC6	HIAT1_HUMAN	Homo sapiens hippocampus abundant transcript 1 (HIAT1), mRNA.	378					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		AACAGGAATTCGAGGATTATG	0.388000														60			31		0	0	0.001786	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564501	66564501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr18:66564501G>A	uc002lkk.2	+	7	1322	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	CCDC102B_uc002lki.2_Missense_Mutation_p.E367K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E367K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	367										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				GGACAAGAGGGAAATACTTGA	0.403000														53			9		0	0	0.000978	0	0
AP4M1	9179	broad.mit.edu	37	7	99704431	99704431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:99704431C>T	uc003utb.4	+	14	1496	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S	AP4M1_uc010lgl.1_Missense_Mutation_p.P405S|AP4M1_uc003utd.3_Missense_Mutation_p.P430S|AP4M1_uc011kjh.2_Missense_Mutation_p.P382S|AP4M1_uc003ute.4_Missense_Mutation_p.P205S|AP4M1_uc003utf.4_Missense_Mutation_p.P302S	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	430	MHD.				intracellular protein transport|vesicle-mediated transport	Golgi trans cisterna|clathrin adaptor complex|coated pit	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCCTTCAGGCCATGCGGCAA	0.647000														31			5		0	0	0.001168	0	0
TPM4	7171	broad.mit.edu	37	19	16178515	16178515	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:16178515G>A	uc002ndi.2	+	0	199	c.81G>A	c.(79-81)gcG>gcA	p.A27A		NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	152					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle	p.A27A(1)	TPM4/ALK(12)	breast(1)|large_intestine(3)	4						AGGCGGAGGCGGATAAGAAAG	0.642000			T	ALK	ALCL									29			7		0	0	0.003080	0	0
MYO9A	4649	broad.mit.edu	37	15	72208774	72208774	+	Silent	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:72208774A>G	uc002atl.4	-	18	3095	c.2622T>C	c.(2620-2622)atT>atC	p.I874I	MYO9A_uc010biq.3_Silent_p.I494I|MYO9A_uc002atn.1_Silent_p.I855I	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	874					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGACTTGGTAATGCGATCTT	0.348000														32			11		0	0	0.008291	0	0
OR5T1	390155	broad.mit.edu	37	11	56043514	56043514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:56043514C>T	uc001nio.1	+	0	400	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R134S(2)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GGCTTATGATCGCTATGTAGC	0.413000														102			26		0	0	0.003954	0	0
CDH8	1006	broad.mit.edu	37	16	61687849	61687849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:61687849G>A	uc002eog.2	-	11	3018	c.2063C>T	c.(2062-2064)cCa>cTa	p.P688L		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	688					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATTCCATCTGGATTTTGTAA	0.423000														51			43		0	0	0.002522	0	0
GCK	2645	broad.mit.edu	37	7	44189363	44189363	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:44189363G>A	uc003tkl.2	-	5	1145	c.675C>T	c.(673-675)atC>atT	p.I225I	GCK_uc003tkj.1_Silent_p.I224I|GCK_uc003tkk.1_Silent_p.I226I	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	225					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CCTTACCCACGATCATGCCGA	0.567000														167			150		0	0	0.003610	0	0
PGM5	5239	broad.mit.edu	37	9	71098840	71098840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:71098840C>T	uc004agr.3	+	8	1584	c.1355C>T	c.(1354-1356)gCc>gTc	p.A452V		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	452					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GACCTGGAGGCCCTGGTCACA	0.507000														18			20		0	0	0.001882	0	0
PCDHB3	56132	broad.mit.edu	37	5	140480591	140480591	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140480591G>A	uc003lio.3	+	0	358	c.358G>A	c.(358-360)Gag>Aag	p.E120K	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	120	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTACAAACGAGCTCCGTAT	0.418000														35			30		0	0	0.006320	0	0
TRPM3	80036	broad.mit.edu	37	9	73164507	73164507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:73164507C>T	uc004aid.3	-	23	3866	c.3622G>A	c.(3622-3624)Gat>Aat	p.D1208N	TRPM3_uc004ahu.3_Missense_Mutation_p.D1050N|TRPM3_uc004ahv.3_Missense_Mutation_p.D1010N|TRPM3_uc004ahw.3_Missense_Mutation_p.D1080N|TRPM3_uc004ahx.3_Missense_Mutation_p.D1067N|TRPM3_uc004ahy.3_Missense_Mutation_p.D1070N|TRPM3_uc004ahz.3_Missense_Mutation_p.D1057N|TRPM3_uc004aia.3_Missense_Mutation_p.D1055N|TRPM3_uc004aib.3_Missense_Mutation_p.D1045N|TRPM3_uc004aic.3_Missense_Mutation_p.D1208N	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1233						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TTGAACCGATCATCCTTTTCT	0.423000														47			8		0	0	0.003080	0	0
IL3RA	3563	broad.mit.edu	37	X	1460719	1460719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:1460719G>A	uc004cps.3	+	1	410	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.E21K	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	21						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GCAAACGAAGGAAGGTAAGAA	0.577000														77			65		0	0	0.003610	0	0
NCBP1	4686	broad.mit.edu	37	9	100431132	100431132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:100431132G>A	uc004axq.3	+	20	2480	c.2021G>A	c.(2020-2022)aGt>aAt	p.S674N		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	674				S -> G (in Ref. 3; BAG35665).	gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	RNA cap binding|protein binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CTATAGCGAAGTGATGATGAC	0.418000														19			6		0	0	0.001168	0	0
TNIP1	10318	broad.mit.edu	37	5	150411944	150411944	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:150411944G>A	uc003lti.3	-	17	2021	c.1780_splice	c.e17-1	p.P594_splice	TNIP1_uc011dcn.2_Splice_Site_p.P112_splice|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Splice_Site|TNIP1_uc010jhp.2_Splice_Site_p.P477_splice|TNIP1_uc010jhl.3_Splice_Site|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Splice_Site_p.P530_splice|TNIP1_uc010jhr.2_Splice_Site_p.P594_splice|TNIP1_uc011dco.2_Silent_p.S599S|TNIP1_uc003ltg.3_Splice_Site_p.P541_splice|TNIP1_uc003ltk.3_Splice_Site_p.P594_splice|TNIP1_uc003ltj.3_Splice_Site_p.P594_splice|TNIP1_uc021ygb.1_Splice_Site_p.P594_splice	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	594	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTATTCCGGCTGCGACAAA	0.463000														8			13		0	0	0.001855	0	0
MYH2	4620	broad.mit.edu	37	17	10430031	10430031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:10430031C>T	uc010coi.3	-	29	4200	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1358K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1358					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCTTGGATTCCTGCTCCTCC	0.607000														29			37		0	0	0.006999	0	0
ZNF385D	79750	broad.mit.edu	37	3	21465456	21465456	+	Splice_Site	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:21465456C>T	uc003cce.3	-	7	1362	c.954_splice	c.e7+1	p.G318_splice		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	318						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACACTCACCCCCAGTGGATG	0.458000														51			10		0	0	0.006214	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227601	56227601	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:56227601G>A	uc002xyq.3	-	3	765	c.372C>T	c.(370-372)ttC>ttT	p.F124F	PMEPA1_uc002xyr.3_Silent_p.F74F|PMEPA1_uc002xys.3_Silent_p.F89F|PMEPA1_uc002xyt.3_Silent_p.F74F	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	124					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGCTGGGCGAAGGGCGGCA	0.706000														8			6		0	0	0.001168	0	0
PRAMEF8	391002	broad.mit.edu	37	1	12979749	12979749	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:12979749G>T	uc001aup.3	+	3	1024	c.941G>T	c.(940-942)tGg>tTg	p.W314L		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	314												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTCTCTTGGTGCCCGAGC	0.562000														118			16		1.87028e-06	5.60087e-06	0.001882	1	0
ASIC1	41	broad.mit.edu	37	12	50471139	50471139	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:50471139G>A	uc001rvv.3	+	3	931	c.702G>A	c.(700-702)ggG>ggA	p.G234G	ASIC1_uc001rvw.3_Silent_p.G234G|ASIC1_uc009zln.3_Silent_p.G25G|ASIC1_uc009zlo.3_Silent_p.G234G|ASIC1_uc021qxr.1_Silent_p.G268G	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	234					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	CTGTGTGGGGGGAGACTGGTA	0.642000														8			7		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9060576	9060576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:9060576G>A	uc002mkp.3	-	2	27074	c.26870C>T	c.(26869-26871)cCa>cTa	p.P8957L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8959	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAGGCCTGGATAAGAGGA	0.468000														65			71		0	0	0.003610	0	0
FAHD2A	51011	broad.mit.edu	37	2	96072778	96072778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:96072778G>A	uc002sur.3	+	2	514	c.335G>A	c.(334-336)gGc>gAc	p.G112D		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	112							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						GTGTGTGTGGGCATGAATTAT	0.567000														57			4		0	0	0.000602	0	0
GRB7	2886	broad.mit.edu	37	17	37898848	37898848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:37898848C>T	uc002hsr.3	+	2	460	c.185C>T	c.(184-186)aCc>aTc	p.T62I	GRB7_uc002hss.3_Missense_Mutation_p.T62I|GRB7_uc021twu.1_Missense_Mutation_p.T85I|GRB7_uc010cwc.3_Missense_Mutation_p.T62I|GRB7_uc002hst.3_Missense_Mutation_p.T62I	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	62					blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGGCGTGCCACCTCCCTCCCC	0.612000														66			19		0	0	0.001882	0	0
RIMBP3	85376	broad.mit.edu	37	22	20458667	20458668	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:20458667_20458668CC>TT	uc002zsd.4	-	0	3119_3120	c.2634_2635GG>AA	c.(2632-2637)gagggg>gaAAgg	p.G879R	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TCAAGCTCCCCCTCATAGAAGC	0.594000														11			4		0	0	0.004672	0	0
STIL	6491	broad.mit.edu	37	1	47717418	47717418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:47717418G>A	uc001crd.1	-	16	3412	c.3257C>T	c.(3256-3258)tCg>tTg	p.S1086L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.S1039L|STIL_uc010omo.1_Missense_Mutation_p.S1068L|STIL_uc001crc.1_Missense_Mutation_p.S1085L|STIL_uc001cre.1_Missense_Mutation_p.S1085L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1085					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ATTTTGGTTCGATCGAGTGAC	0.403000														84			44		0	0	0.003610	0	0
UNC5C	8633	broad.mit.edu	37	4	96222867	96222867	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:96222867G>A	uc003hto.3	-	2	733	c.380C>T	c.(379-381)tCg>tTg	p.S127L	UNC5C_uc010ilc.2_Missense_Mutation_p.S127L|UNC5C_uc003htq.3_Missense_Mutation_p.S127L	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	127	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTGCTGGCGCGAAATCTCAAT	0.463000														19			12		0	0	0.001368	0	0
CDKAL1	54901	broad.mit.edu	37	6	21201483	21201483	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:21201483G>A	uc003ndd.2	+	14	1693	c.1526G>A	c.(1525-1527)gGa>gAa	p.G509E	CDKAL1_uc003nde.2_Missense_Mutation_p.G418E|CDKAL1_uc021ymk.1_Missense_Mutation_p.G509E|CDKAL1_uc003ndf.2_Intron	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	509					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CTAGCAAAGGGAGAAGTCTCG	0.468000														166			64		0	0	0.003610	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140764776	140764776	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140764776C>T	uc003lka.2	+	0	2310	c.2310C>T	c.(2308-2310)ttC>ttT	p.F770F	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_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Silent_p.F770F	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	779					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)			ACCTGATCTTCCCCCAGCCCA	0.512000														38			38		0	0	0.003610	0	0
LGSN	51557	broad.mit.edu	37	6	63990433	63990433	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:63990433C>T	uc003peh.3	-	3	1057	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	LGSN_uc003pei.3_Missense_Mutation_p.G201E	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	341					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.G341G(2)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACCATTTTTTCCCAGTGATCG	0.488000														18			22		0	0	0.002299	0	0
DHDDS	79947	broad.mit.edu	37	1	26769251	26769252	+	Silent	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:26769251_26769252CC>TT	uc001bmk.3	+	3	360_361	c.210_211CC>TT	c.(208-213)atccta>atTTta	p.70_71IL>IL	DHDDS_uc001bml.3_Silent_p.70_71IL>IL|DHDDS_uc001bmn.3_Silent_p.70_71IL>IL|DHDDS_uc010ofd.2_Silent_p.70_71IL>IL|DHDDS_uc001bmm.3_5'UTR	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2, mRNA.	70							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		ACCTGGGCATCCTAGAGGTGAC	0.515000														57			47		0	0	0.004672	0	0
TMEM67	91147	broad.mit.edu	37	8	94809558	94809558	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:94809558G>A	uc011lgk.2	+	20	2032	c.1961_splice	c.e20-1	p.G654_splice	TMEM67_uc010maw.2_Splice_Site_p.G360_splice|TMEM67_uc003yga.4_Splice_Site_p.G573_splice|TMEM67_uc011lgl.2_Splice_Site_p.G53_splice	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	654					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTCCTGACCAGGTGAGGGTGG	0.353000														40			14		0	0	0.008871	0	0
DYNC1LI2	1783	broad.mit.edu	37	16	66770095	66770096	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:66770095_66770096GG>AA	uc002eqb.1	-	4	612_613	c.581_582CC>TT	c.(580-582)tcc>tTT	p.S194F	DYNC1LI2_uc010vis.1_Missense_Mutation_p.S117F|DYNC1LI2_uc010vit.2_Missense_Mutation_p.S194F|DYNC1LI2_uc010viu.2_Missense_Mutation_p.S155F	NM_006141	NP_006132	O43237	DC1L2_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA.	194					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		TTCTCTGTGGGGAACCTTGACA	0.450000														34			16		0	0	0.004672	0	0
TESPA1	9840	broad.mit.edu	37	12	55356694	55356694	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:55356694G>A	uc010spd.1	-	8	1121	c.988C>T	c.(988-990)Ctc>Ttc	p.L330F	TESPA1_uc001sgl.3_Missense_Mutation_p.L192F|TESPA1_uc001sgm.3_Missense_Mutation_p.L77F|TESPA1_uc010spb.1_Missense_Mutation_p.L77F|TESPA1_uc010spc.1_Missense_Mutation_p.L192F|TESPA1_uc001sgn.3_Missense_Mutation_p.L330F	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	330																	TCTTGCTGGAGGAACTGCTTC	0.522000														22			5		0	0	0.001168	0	0
TRPC7	57113	broad.mit.edu	37	5	135692901	135692902	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:135692901_135692902CC>TT	uc003lbn.2	-	1	396_397	c.174_175GG>AA	c.(172-177)gtggtc>gtAAtc	p.V59I	TRPC7_uc010jef.2_Missense_Mutation_p.V50I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.V59I|TRPC7_uc010jei.2_Missense_Mutation_p.V59I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	59					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATTTTCCGGACCACCGGGATGT	0.599000														73			25		0	0	0.004672	0	0
PLD4	122618	broad.mit.edu	37	14	105394092	105394092	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr14:105394092C>T	uc010tyl.1	+	2	352	c.194C>T	c.(193-195)cCc>cTc	p.P65L	PLD4_uc001ypu.1_Missense_Mutation_p.P58L	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	58					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCCCGTCCTCCCACCTGGGGC	0.687000														2			5		0	0	0.001168	0	0
ANO10	55129	broad.mit.edu	37	3	43602729	43602729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:43602729C>T	uc003cmv.3	-	8	1630	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	ANO10_uc011azs.2_Missense_Mutation_p.E487K|ANO10_uc003cmw.3_Missense_Mutation_p.E421K|ANO10_uc010hil.3_Missense_Mutation_p.E297K|ANO10_uc011azt.2_Missense_Mutation_p.E376K	NM_018075	NP_060545	Q9NW15	ANO10_HUMAN	Homo sapiens anoctamin 10 (ANO10), transcript variant 1, mRNA.	487					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GTTCCCATTTCTTTTTCCAGG	0.383000														38			25		0	0	0.007291	0	0
CEACAM6	4680	broad.mit.edu	37	19	42270134	42270134	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:42270134G>A	uc002orm.2	+	4	1151	c.1002G>A	c.(1000-1002)acG>acA	p.T334T		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	334					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		TCGGCATCACGATTGGAGTGC	0.522000														50			11		0	0	0.002450	0	0
OLFML2B	25903	broad.mit.edu	37	1	161989927	161989927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:161989927C>T	uc010pkq.2	-	1	644	c.220G>A	c.(220-222)Gac>Aac	p.D74N	OLFML2B_uc001gbu.3_Missense_Mutation_p.D74N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	74										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CACTGACAGTCCGAGCCCTCA	0.567000														40			15		0	0	0.003163	0	0
LPP	4026	broad.mit.edu	37	3	188327358	188327358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:188327358G>A	uc003frs.2	+	5	1085	c.839G>A	c.(838-840)gGa>gAa	p.G280E	LPP_uc011bsg.2_Intron|LPP_uc011bsi.2_Missense_Mutation_p.G280E|LPP_uc003frt.3_Missense_Mutation_p.G280E|LPP_uc011bsj.2_Missense_Mutation_p.G117E	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	280	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		CCACCACCAGGACTTCAGCCG	0.577000			T	"""HMGA2, MLL, C12orf9"""	"""lipoma, leukemia"""									62			6		0	0	0.001168	0	0
CYP4A22	284541	broad.mit.edu	37	1	47610246	47610246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:47610246G>A	uc001cqv.1	+	7	973	c.922G>A	c.(922-924)Gac>Aac	p.D308N	CYP4A22_uc009vyo.3_Missense_Mutation_p.D308N|CYP4A22_uc009vyp.3_Intron	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	308						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTGTCAGACAAGGACCT	0.557000														72			35		0	0	0.002222	0	0
RP1	6101	broad.mit.edu	37	8	55539965	55539965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:55539965G>A	uc003xsd.1	+	3	3671	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1175					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TATCACAGAGGAAGCTGATGA	0.408000														20			18		0	0	0.006122	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879492	73879492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:73879492G>A	uc011dyh.2	+	11	1896	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	KCNQ5_uc011dyi.2_Missense_Mutation_p.D508N|KCNQ5_uc010kat.3_Missense_Mutation_p.D489N|KCNQ5_uc003pgk.3_Missense_Mutation_p.D498N|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.D248N	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	498					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGCACTGATGATGTATATGA	0.423000														11			14		0	0	0.003163	0	0
SCN3A	6328	broad.mit.edu	37	2	165986630	165986630	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:165986630C>T	uc002ucx.3	-	16	3234	c.2742G>A	c.(2740-2742)aaG>aaA	p.K914K	SCN3A_uc002ucy.3_Silent_p.K865K|SCN3A_uc002ucz.3_Silent_p.K865K|SCN3A_uc002uda.1_Silent_p.K734K|SCN3A_uc002udb.1_Silent_p.K734K	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	914						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATCATTGATCTTGCAGACAC	0.498000														61			35		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50278518	50278518	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr18:50278518C>T	uc002lfe.2	+	1	802	c.186C>T	c.(184-186)tcC>tcT	p.S62S	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	62	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCGACTGCTCCGCGGAGTCCG	0.502000														13			15		0	0	0.003163	0	0
SSTR3	6753	broad.mit.edu	37	22	37603295	37603295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:37603295C>T	uc003ara.3	-	1	610	c.548G>A	c.(547-549)gGa>gAa	p.G183E	SSTR3_uc003arb.3_Missense_Mutation_p.G183E|SSTR3_uc021wos.1_Missense_Mutation_p.G183E	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	183					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCGGGGCACTCCCGAGAAGAC	0.726000														8			5		0	0	0.001984	0	0
MS4A2	2206	broad.mit.edu	37	11	59860950	59860950	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:59860950G>A	uc001nop.3	+	4	558	c.456G>A	c.(454-456)ctG>ctA	p.L152L	MS4A2_uc009ymu.3_Silent_p.L152L|MS4A2_uc021qka.1_Silent_p.L107L	NM_000139	NP_000130	Q01362	FCERB_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA.	152					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TCATCAACCTGAAGAAGAGCT	0.438000														34			28		0	0	0.001786	0	0
DSP	1832	broad.mit.edu	37	6	7576533	7576533	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:7576533G>A	uc003mxp.1	+	18	2916	c.2637G>A	c.(2635-2637)tgG>tgA	p.W879*	DSP_uc003mxq.1_Nonsense_Mutation_p.W879*|DSP_uc021yle.1_Nonsense_Mutation_p.W879*	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	879	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGGTTATGGGACCTGGAGA	0.373000														39			17		0	0	0.007413	0	0
MXRA8	54587	broad.mit.edu	37	1	1289861	1289861	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:1289861G>A	uc001aex.4	-	5	1009	c.978C>T	c.(976-978)gtC>gtT	p.V326V	MXRA8_uc001aew.3_Silent_p.V326V|MXRA8_uc001aey.4_Silent_p.V326V|MXRA8_uc001aez.3_Silent_p.V225V|MXRA8_uc001afa.3_Silent_p.V317V	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN	Homo sapiens matrix-remodelling associated 8 (MXRA8), mRNA.	326						integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGACATTGATGACGTTGTGGC	0.687000														34			18		0	0	0.001523	0	0
NEBL	10529	broad.mit.edu	37	10	21076194	21076194	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:21076194G>A	uc001iqi.3	-	26	3202	c.2805C>T	c.(2803-2805)ggC>ggT	p.G935G	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.G191G|NEBL_uc021pnu.1_Silent_p.G191G	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	935	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTAGCCATAGCCTTGGGAAT	0.458000														18			10		0	0	0.000978	0	0
CDX4	1046	broad.mit.edu	37	X	72667312	72667312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:72667312C>T	uc011mqk.2	+	0	223	c.223C>T	c.(223-225)Ccc>Tcc	p.P75S		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGGCTCACCCTACAGTCC	0.602000														28			21		0	0	0.001882	0	0
ACTL7B	10880	broad.mit.edu	37	9	111617367	111617367	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr9:111617367C>T	uc004bdi.3	-	0	909	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	282						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCCGGGAGCTCGTAGTCCACG	0.632000														22			16		0	0	0.004007	0	0
OR5T1	390155	broad.mit.edu	37	11	56044034	56044034	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:56044034A>T	uc001nio.1	+	0	920	c.920A>T	c.(919-921)aAa>aTa	p.K307I		NM_001004745	NP_001004745	Q8NG75	OR5T1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 1 (OR5T1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCGGAACAAAGATGTAAAG	0.348000														38			26		0	0	0.005443	0	0
CDCA8	55143	broad.mit.edu	37	1	38168923	38168923	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:38168923G>A	uc001cbr.3	+	8	596	c.489_splice	c.e8-1	p.R163_splice	CDCA8_uc001cbs.3_Splice_Site_p.R163_splice|CDCA8_uc010oih.1_Splice_Site_p.R96_splice	NM_018101	NP_060571	Q53HL2	BOREA_HUMAN	Homo sapiens cell division cycle associated 8 (CDCA8), mRNA.	163					cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTACCTGTAGGTCAAGCCGT	0.552000														67			63		0	0	0.003610	0	0
SGMS1	259230	broad.mit.edu	37	10	52103615	52103615	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:52103615A>T	uc001jje.3	-	6	1214	c.260T>A	c.(259-261)aTt>aAt	p.I87N	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.I87N|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.I87N|SGMS1_uc021pqo.1_Missense_Mutation_p.I87N|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	93					apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GTCTACGCCAATGTTGAGGTG	0.512000														26			21		0	0	0.002780	0	0
INPP5J	27124	broad.mit.edu	37	22	31522677	31522677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr22:31522677G>A	uc003aju.4	+	3	1556	c.1464G>A	c.(1462-1464)atG>atA	p.M488I	INPP5J_uc010gwf.3_Missense_Mutation_p.M488I|INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.M120I|INPP5J_uc003ajv.4_Missense_Mutation_p.M121I|INPP5J_uc003ajs.4_Missense_Mutation_p.M121I|INPP5J_uc011alk.2_Missense_Mutation_p.M421I|INPP5J_uc010gwg.3_Missense_Mutation_p.M53I	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	488	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGCTGTTCATGGATGCGCTAG	0.607000														85			31		0	0	0.003271	0	0
TM4SF20	79853	broad.mit.edu	37	2	228228518	228228518	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:228228518C>T	uc002vpb.2	-	3	650	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_024795	NP_079071	Q53R12	T4S20_HUMAN	Homo sapiens transmembrane 4 L six family member 20 (TM4SF20), mRNA.	204						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		TGAGCCCAAACAGGACCTCCA	0.403000														44			25		0	0	0.005443	0	0
LELP1	149018	broad.mit.edu	37	1	153177316	153177316	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:153177316G>A	uc001fbl.3	+	1	243	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K	LELP1_uc021ozv.1_Missense_Mutation_p.E45K	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	45	Cys/Pro-rich.							p.F44F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACGCTGTTTCGAAAAGTGCCC	0.572000														49			19		0	0	0.002299	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132905758	132905758	+	RNA	SNP	C	T	T	rs62165773	by1000genomes	TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:132905758C>T	uc002tti.3	-	6		c.1133G>A			ANKRD30BL_uc002ttj.3_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.											endometrium(1)|kidney(3)	4						GTGTTCTTTCCGCCAAGGGTG	0.438000														21			5		0	0	0.001168	0	0
KIF1A	547	broad.mit.edu	37	2	241722494	241722495	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:241722494_241722495GG>AA	uc010fzk.3	-	8	1077_1078	c.830_831CC>TT	c.(829-831)acc>aTT	p.T277I	KIF1A_uc002vzy.3_Missense_Mutation_p.T277I|KIF1A_uc002vzz.2_Missense_Mutation_p.T277I	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	277	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCTTGCCCAGGGTGGTCAGCGA	0.653000														44			12		0	0	0.004672	0	0
XK	7504	broad.mit.edu	37	X	37545385	37545385	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:37545385C>T	uc004ddq.3	+	0	253	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	57					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CGCTTCTCTTCGTACACCGCG	0.657000														12			11		0	0	0.000978	0	0
TPTE	7179	broad.mit.edu	37	21	10933870	10933870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr21:10933870G>A	uc002yip.1	-	16	1377	c.1009C>T	c.(1009-1011)Cac>Tac	p.H337Y	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H319Y|TPTE_uc002yir.1_Missense_Mutation_p.H299Y|TPTE_uc010gkv.1_Missense_Mutation_p.H199Y	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	337	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			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)		CCTTTACAGTGAATCGCTACG	0.328000														229			36		0	0	0.004289	0	0
LRRC7	57554	broad.mit.edu	37	1	70226011	70226011	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:70226011T>A	uc001dep.3	+	0	154	c.124T>A	c.(124-126)Ttt>Att	p.F42I	LRRC7_uc001deo.1_Missense_Mutation_p.F80I|LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	42						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGGAGGTCTTTAACTTCGA	0.418000														23			6		0	0	0.003080	0	0
ZNF100	163227	broad.mit.edu	37	19	21909497	21909497	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:21909497G>A	uc002nqi.3	-	4	1816	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	ZNF100_uc002nqh.3_Silent_p.T475T	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN	Homo sapiens zinc finger protein 100 (ZNF100), mRNA.	539					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						ACATTTGTAGGGTTTCTCTCC	0.368000														17			12		0	0	0.000978	0	0
NBEAL2	23218	broad.mit.edu	37	3	47038258	47038258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:47038258C>T	uc003cqp.3	+	16	2670	c.2491C>T	c.(2491-2493)Ccc>Tcc	p.P831S	NBEAL2_uc010hjm.2_Missense_Mutation_p.P392S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	831							binding	p.T831M(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGAGACGGCACCCTTCAAGCC	0.632000														14			5		0	0	0.003080	0	0
OR6N1	128372	broad.mit.edu	37	1	158735715	158735715	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:158735715C>T	uc010piq.2	-	0	758	c.758G>A	c.(757-759)gGg>gAg	p.G253E		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					AAGGATGCTCCCATAGAAGAT	0.537000														80			22		0	0	0.003330	0	0
KCNK13	56659	broad.mit.edu	37	14	90651153	90651153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr14:90651153G>A	uc001xye.1	+	1	1475	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	345						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GCTCTCAGGGGAGATGATCTC	0.617000														41			19		0	0	0.006122	0	0
CCDC142	84865	broad.mit.edu	37	2	74709731	74709731	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:74709731G>A	uc002slr.3	-	0	627	c.234C>T	c.(232-234)ccC>ccT	p.P78P	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Silent_p.P78P|CCDC142_uc002slp.2_Silent_p.P78P	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	78										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CGCCACCTGCGGGCCCCCGCC	0.741000														5			11		0	0	0.003163	0	0
ZNF215	7762	broad.mit.edu	37	11	6953513	6953513	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:6953513C>A	uc001mey.3	+	2	598	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	ZNF215_uc010raw.2_Missense_Mutation_p.L4M|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.L4M	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	4					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GATGCAGCCTCTGAGCAAGTT	0.453000														37			15		2.94398e-08	8.83982e-08	0.007413	1	0
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:78211648A>G	uc010bky.2	-	10	883	c.119T>C	c.(118-120)cTa>cCa	p.L40P						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		CGCCAGGGATAGGGGCTCAGC	0.522000														42			3		0	0	0.004672	0	0
OR5J2	282775	broad.mit.edu	37	11	55944548	55944548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:55944548G>A	uc010rjb.2	+	0	455	c.455G>A	c.(454-456)gGa>gAa	p.G152E		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TGGATAGGTGGAATAGTTAAC	0.453000														21			29		0	0	0.006320	0	0
ZC3H13	23091	broad.mit.edu	37	13	46542938	46542938	+	Silent	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:46542938T>C	uc010tfw.1	-	12	3747	c.3741A>G	c.(3739-3741)agA>agG	p.R1247R	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Silent_p.R1247R|ZC3H13_uc001vat.1_Silent_p.R1247R	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	1247	Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCTAGATTTTCTCTCTCCTG	0.413000														79			39		0	0	0.003214	0	0
C15orf23	90417	broad.mit.edu	37	15	40675118	40675118	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:40675118C>T	uc001zll.3	+	0	197	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	C15orf23_uc001zlo.3_Missense_Mutation_p.P28S|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.P28S	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	28						nucleus	protein binding			central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		CCACCCACTTCCGCCTAGCTA	0.562000														24			19		0	0	0.007413	0	0
F13A1	2162	broad.mit.edu	37	6	6145907	6145907	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:6145907A>G	uc003mwv.3	-	14	2267	c.2144T>C	c.(2143-2145)cTg>cCg	p.L715P	F13A1_uc011dib.2_3'UTR	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	715					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACATGTCTCAGGGAGTCACT	0.557000														55			20		0	0	0.001523	0	0
KCTD3	51133	broad.mit.edu	37	1	215792594	215792594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:215792594C>T	uc001hks.3	+	16	2141	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	KCTD3_uc001hkt.3_Missense_Mutation_p.S614F|KCTD3_uc010pub.2_Missense_Mutation_p.S514F|KCTD3_uc009xdn.3_Missense_Mutation_p.S340F	NM_016121	NP_057205	Q9Y597	KCTD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 3 (KCTD3), mRNA.	616						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CCAGCAACTTCCGTAGTTCAG	0.393000														67			23		0	0	0.003330	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224494	172224494	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:172224494T>C	uc003fid.3	-	4	757	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	212					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTTGTGTATTTGTAAATATAT	0.328000														38			31		0	0	0.001786	0	0
RBP3	5949	broad.mit.edu	37	10	48390817	48390817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:48390817G>A	uc001jez.3	-	0	175	c.61C>T	c.(61-63)Cac>Tac	p.H21Y		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	21	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGAACAGGTGTGTGGGGCCA	0.607000														21			14		0	0	0.002450	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656466	40656466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:40656466C>T	uc002rrx.3	-	0	979	c.955G>A	c.(955-957)Gat>Aat	p.D319N	SLC8A1_uc002rry.3_Missense_Mutation_p.D319N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D319N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D319N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D319N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D319N|SLC8A1_uc010fan.1_Missense_Mutation_p.D319N|SLC8A1_uc002rsc.1_Missense_Mutation_p.D319N	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	319					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	GCTTCTTCATCATCTTGGTCC	0.398000														53			31		0	0	0.002445	0	0
ADAM7	8756	broad.mit.edu	37	8	24323234	24323234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:24323234C>T	uc003xeb.3	+	4	448	c.335C>T	c.(334-336)tCc>tTc	p.S112F	ADAM7_uc003xea.1_Missense_Mutation_p.S112F	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	112					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TACCAAGGATCCATAGTACAC	0.289000														21			7		0	0	0.003080	0	0
DNAH2	146754	broad.mit.edu	37	17	7678115	7678115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:7678115G>A	uc002giu.1	+	27	4554	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1514	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TACAATCCTGGAAGATATTCA	0.448000														29			10		0	0	0.000978	0	0
MUC3A	4584	broad.mit.edu	37	7	100552100	100552100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:100552100C>T	uc003uxl.1	+	0	1351	c.551C>T	c.(550-552)cCt>cTt	p.P184L	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACAGGCTTTCCTAGTCTCTCT	0.453000														240			14		0	0	0.003330	0	0
NPSR1	387129	broad.mit.edu	37	7	34698136	34698136	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:34698136G>A	uc003teh.1	+	0	240	c.112G>A	c.(112-114)Gga>Aga	p.G38R	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G38R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.G38R|NPSR1_uc003tei.1_Missense_Mutation_p.G38R|NPSR1_uc010kww.1_Missense_Mutation_p.G38R|NPSR1_uc011kar.1_Missense_Mutation_p.G38R	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	38						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	AGTGGTGGAAGGAAAGGAATG	0.483000														39			27		0	0	0.004656	0	0
SLC8A1	6546	broad.mit.edu	37	2	40366808	40366808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:40366808C>T	uc002rrx.3	-	8	2302	c.2278G>A	c.(2278-2280)Gat>Aat	p.D760N	LOC100128590_uc002rrw.3_Intron|SLC8A1_uc002rry.3_Missense_Mutation_p.D755N|SLC8A1_uc002rsb.2_Missense_Mutation_p.D752N|SLC8A1_uc002rrz.3_Missense_Mutation_p.D747N|SLC8A1_uc002rsa.3_Missense_Mutation_p.D724N|SLC8A1_uc002rsd.4_Missense_Mutation_p.D724N	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	760	Poly-Asp.				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCGTCGTCATCATCTTCCCCT	0.502000														43			27		0	0	0.002445	0	0
FTSJ2	29960	broad.mit.edu	37	7	2279183	2279183	+	Silent	SNP	G	A	A	rs145102163	by1000genomes	TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:2279183G>A	uc003slm.3	-	1	197	c.168C>T	c.(166-168)agC>agT	p.S56S	FTSJ2_uc003sln.3_Non-coding_Transcript|FTSJ2_uc003slo.3_5'UTR|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	56					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		GCTTGAAGGCGCTTCGACACC	0.622000														34			23		0	0	0.003954	0	0
LARP4	113251	broad.mit.edu	37	12	50860821	50860821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:50860821C>T	uc001rwp.2	+	12	1665	c.1463C>T	c.(1462-1464)cCt>cTt	p.P488L	LARP4_uc001rwq.2_Missense_Mutation_p.P417L|LARP4_uc001rwt.2_Missense_Mutation_p.P346L|LARP4_uc001rws.2_Missense_Mutation_p.P487L|LARP4_uc001rwr.2_Missense_Mutation_p.P417L|LARP4_uc021qxv.1_Missense_Mutation_p.P418L|LARP4_uc009zlr.1_Missense_Mutation_p.P307L	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	488							RNA binding|nucleotide binding	p.P488L(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CCACCTTTACCTGGAAGTTCA	0.383000														19			25		0	0	0.002780	0	0
IFLTD1	160492	broad.mit.edu	37	12	25679043	25679043	+	Missense_Mutation	SNP	G	C	C	rs145152190	by1000genomes	TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:25679043G>C	uc010sji.1	-	5	1033	c.788C>G	c.(787-789)cCg>cGg	p.P263R	IFLTD1_uc001rgt.1_Missense_Mutation_p.P145R|IFLTD1_uc001rgs.2_Missense_Mutation_p.P242R|IFLTD1_uc010sjj.2_Missense_Mutation_p.P179R|IFLTD1_uc009zjc.2_Intron	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	242						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TTGACCGTTCGGTTTGCACAG	0.328000														39			7		0	0	0.008291	0	0
OR14A16	284532	broad.mit.edu	37	1	247978878	247978878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:247978878G>A	uc001idm.1	-	0	154	c.154C>T	c.(154-156)Cat>Tat	p.H52Y		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GTGTGGAGATGATGGTCCAAA	0.393000														29			16		0	0	0.004990	0	0
CDH17	1015	broad.mit.edu	37	8	95164197	95164197	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:95164197T>G	uc003ygh.2	-	12	1820	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	CDH17_uc011lgo.1_Missense_Mutation_p.Q351H|CDH17_uc011lgp.1_Missense_Mutation_p.Q565H	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	565	Cadherin 5.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTTGGGAAAATTGAGGTGCTT	0.438000														33			4		0	0	0.000602	0	0
ZNF790	388536	broad.mit.edu	37	19	37314681	37314681	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:37314681G>A	uc021utk.1	-	2	450	c.21C>T	c.(19-21)ttC>ttT	p.F7F	LOC284408_uc021utj.1_Non-coding_Transcript|LOC284408_uc002oev.2_Non-coding_Transcript|ZNF790_uc002oew.3_Silent_p.F7F|ZNF790_uc021utl.1_Silent_p.F7F|ZNF790_uc021utm.1_Silent_p.F7F	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	7	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CCACATCCCTGAACATCATCA	0.393000														26			12		0	0	0.000978	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787061	73787061	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:73787061C>T	uc011dyh.2	+	3	980	c.633C>T	c.(631-633)atC>atT	p.I211I	KCNQ5_uc003pgj.4_Silent_p.I211I|KCNQ5_uc011dyi.2_Silent_p.I211I|KCNQ5_uc010kat.3_Silent_p.I211I|KCNQ5_uc003pgk.3_Silent_p.I211I|KCNQ5_uc011dyj.2_Silent_p.I211I|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	211					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGTTCTTATCGCTTCAATAG	0.408000														12			15		0	0	0.006122	0	0
GAB3	139716	broad.mit.edu	37	X	153944500	153944500	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:153944500C>T	uc004fmk.1	-	1	225	c.177G>A	c.(175-177)gtG>gtA	p.V59V	GAB3_uc004fmj.1_Silent_p.V59V|GAB3_uc010nve.1_Silent_p.V59V|GAB3_uc004fml.1_5'UTR	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	59	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGAGGTCTATCACCCGGATGG	0.552000														30			36		0	0	0.006230	0	0
C11orf30	56946	broad.mit.edu	37	11	76174919	76174919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:76174919C>T	uc001oxl.3	+	6	769	c.626C>T	c.(625-627)tCt>tTt	p.S209F	C11orf30_uc009yuj.1_Missense_Mutation_p.S224F|C11orf30_uc010rsa.1_Missense_Mutation_p.S159F|C11orf30_uc001oxm.3_Missense_Mutation_p.S210F|C11orf30_uc010rsb.2_Missense_Mutation_p.S224F|C11orf30_uc010rsc.2_Missense_Mutation_p.S224F|C11orf30_uc001oxn.3_Missense_Mutation_p.S210F|C11orf30_uc010rsd.2_Missense_Mutation_p.S223F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	209	Interaction with BRCA2.|Poly-Ser.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						CGAACAAACTCTTCCAGCTCC	0.443000														45			44		0	0	0.003610	0	0
TCR-alpha	0	broad.mit.edu	37	14	22434132	22434132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr14:22434132C>T	uc021rpm.1	+	1	223	c.185C>T	c.(184-186)tCc>tTc	p.S62F	TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|TCRA_uc021rpj.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron					SubName: Full=V-alpha; Flags: Fragment;																		AGACAGTATTCCAGAAAAGGC	0.448000														51			46		0	0	0.003610	0	0
FAT3	120114	broad.mit.edu	37	11	92085755	92085755	+	Silent	SNP	A	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:92085755A>C	uc001pdj.4	+	0	494	c.477A>C	c.(475-477)tcA>tcC	p.S159S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	159	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTTTGTTTTCACCCACAACAT	0.413000										TCGA Ovarian(4;0.039)				176			125		0	0	0.003610	0	0
OR51E1	143503	broad.mit.edu	37	11	4674041	4674041	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:4674041C>T	uc021qcq.1	+	0	285	c.285C>T	c.(283-285)atC>atT	p.I95I	OR51E1_uc001lzi.4_Silent_p.I95I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACTACCATCCAGTTTGATG	0.473000														27			4		0	0	0.000602	0	0
TIPARP	25976	broad.mit.edu	37	3	156395701	156395701	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:156395701T>C	uc003fav.3	+	1	637	c.215T>C	c.(214-216)gTt>gCt	p.V72A	TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Missense_Mutation_p.V72A|TIPARP_uc021xgg.1_Missense_Mutation_p.V72A	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	72							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CTTGATGGGGTTTTTAGATCT	0.398000														54			35		0	0	0.002836	0	0
ADAD2	161931	broad.mit.edu	37	16	84230550	84230550	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:84230550G>A	uc002fhq.2	+	10	2082	c.1968G>A	c.(1966-1968)tcG>tcA	p.S656S	ADAD2_uc002fhr.2_Silent_p.S574S|AK123582_uc002fhs.1_5'UTR	NM_139174	NP_631913	Q8NCV1	ADAD2_HUMAN	Homo sapiens adenosine deaminase domain containing 2 (ADAD2), transcript variant 1, mRNA.	574					RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTTGGCCCTCGAAGCCACTGG	0.667000														8			8		0	0	0.000978	0	0
DUXA	503835	broad.mit.edu	37	19	57666694	57666694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:57666694C>T	uc002qoa.1	-	4	530	c.485G>A	c.(484-486)aGg>aAg	p.R162K		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CACAGGTTCCCTTTTTCTCTG	0.413000														42			7		0	0	0.001984	0	0
LILRA1	11024	broad.mit.edu	37	19	55106777	55106777	+	Missense_Mutation	SNP	C	T	T	rs141328341		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:55106777C>T	uc002qgh.1	+	4	753	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R191C	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	191	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GAGCCCGAGTCGCAGGTGGTC	0.567000														80			29		0	0	0.005443	0	0
IPP	3652	broad.mit.edu	37	1	46180064	46180064	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:46180064A>G	uc001cou.3	-	7	1651	c.1384T>C	c.(1384-1386)Tct>Cct	p.S462P	IPP_uc001cos.4_Missense_Mutation_p.S462P	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	462						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					CAACGCTTAGAAAGTGGATCA	0.423000														25			9		0	0	0.006214	0	0
TMEM175	84286	broad.mit.edu	37	4	941538	941538	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:941538C>T	uc003gbq.3	+	1	109	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TMEM175_uc021xkf.1_Missense_Mutation_p.P4L|TMEM175_uc010ibl.1_Missense_Mutation_p.P4L|TMEM175_uc003gbp.1_5'UTR|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_5'UTR	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	4						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ATGTCCCAGCCCCGGACCCCA	0.692000														22			9		0	0	0.001368	0	0
VCAM1	7412	broad.mit.edu	37	1	101200183	101200183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:101200183G>A	uc001dti.3	+	7	2139	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	VCAM1_uc010ouj.2_Missense_Mutation_p.E578K|VCAM1_uc001dtj.3_Missense_Mutation_p.E548K	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	640	Ig-like C2-type 7.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GAAAAAAGCGGAGACAGGAGA	0.413000														14			8		0	0	0.004482	0	0
CDH9	1007	broad.mit.edu	37	5	26915843	26915843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:26915843C>T	uc003jgs.1	-	2	587	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	CDH9_uc010iug.3_Missense_Mutation_p.E140K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	140	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GATTCCGGTTCCACCTGCCGC	0.393000														107			39		0	0	0.006999	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169540625	169540625	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:169540625C>T	uc003fgb.3	+	0	916	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	306										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GGTCAACTTGCGCTTCCTGGA	0.582000														9			7		0	0	0.003080	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572753	140572753	+	Silent	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:140572753T>C	uc003lix.3	+	0	802	c.628T>C	c.(628-630)Tta>Cta	p.L210L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGCTCAGCTTAACCCTCAC	0.507000														53			44		0	0	0.002222	0	0
COL4A5	1287	broad.mit.edu	37	X	107824250	107824250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:107824250G>A	uc022ccg.1	+	15	1131	c.929G>A	c.(928-930)gGa>gAa	p.G310E	COL4A5_uc004enz.1_Missense_Mutation_p.G310E|COL4A5_uc004eob.1_5'Flank	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	310	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCCAACCAGGAATTCCTGTA	0.388000									Alport syndrome with Diffuse Leiomyomatosis					41			23		0	0	0.003954	0	0
CT62	196993	broad.mit.edu	37	15	71403676	71403676	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:71403676C>T	uc002ata.2	-	3	738	c.225G>A	c.(223-225)aaG>aaA	p.K75K		NM_001102658	NP_001096128	P0C5K7	CT62_HUMAN	Homo sapiens cancer/testis antigen 62 (CT62), mRNA.	75										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)	6						AGAATTTTCTCTTGCCCAGTT	0.522000														29			12		0	0	0.001855	0	0
OR4C11	219429	broad.mit.edu	37	11	55371330	55371330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:55371330G>A	uc010rii.2	-	0	545	c.520C>T	c.(520-522)Cat>Tat	p.H174Y		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CAGCAATAATGATCAATCAAA	0.438000														18			22		0	0	0.001882	0	0
S100A13	6284	broad.mit.edu	37	1	153591502	153591502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:153591502G>A	uc001fcf.4	-	2	340	c.166C>T	c.(166-168)Ctt>Ttt	p.L56F	S100A14_uc001fce.3_5'Flank|S100A13_uc001fcg.3_Missense_Mutation_p.L56F|S100A13_uc009woh.3_Missense_Mutation_p.L56F|S100A13_uc001fch.3_Missense_Mutation_p.L56F|S100A13_uc001fci.3_Missense_Mutation_p.L56F|S100A13_uc001fcj.3_Missense_Mutation_p.L56F	NM_001024213	NP_005970	Q99584	S10AD_HUMAN	Homo sapiens S100 calcium binding protein A13 (S100A13), transcript variant 5, mRNA.	56					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	RAGE receptor binding|calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	TTCTCATCAAGAGAGCCCACA	0.483000														79			39		0	0	0.008740	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69419695	69419696	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:69419695_69419696CC>TT	uc004dxx.1	+	2	327_328	c.230_231CC>TT	c.(229-231)acc>aTT	p.T77I		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	77					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CGAAACTGGACCCTATGGAAGT	0.554000														20			4		0	0	0.004672	0	0
CHRNA4	1137	broad.mit.edu	37	20	61987406	61987406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr20:61987406G>A	uc002yes.2	-	3	482	c.304C>T	c.(304-306)Cca>Tca	p.P102S	CHRNA4_uc002yet.1_Intron|CHRNA4_uc010gke.1_5'UTR|CHRNA4_uc002yev.1_5'UTR|CHRNA4_uc010gkf.1_5'UTR	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	102					B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TAGTCAGCTGGGTCCCAGCGC	0.642000														37			6		0	0	0.001168	0	0
TSHB	7252	broad.mit.edu	37	1	115576094	115576094	+	Silent	SNP	T	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:115576094T>C	uc001efs.1	+	1	179	c.111T>C	c.(109-111)gcT>gcC	p.A37A		NM_000549	NP_000540	P01222	TSHB_HUMAN	Homo sapiens thyroid stimulating hormone, beta (TSHB), mRNA.	37					G-protein coupled receptor protein signaling pathway|anatomical structure morphogenesis|cell-cell signaling|cellular nitrogen compound metabolic process|hormone biosynthetic process|peptide hormone processing	extracellular region	hormone activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	Lung SC(450;0.211)	all_cancers(81;3.22e-07)|all_epithelial(167;1.4e-06)|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)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GAGAGTGTGCTTATTGCCTAA	0.413000														32			30		0	0	0.002445	0	0
SLC4A4	8671	broad.mit.edu	37	4	72413422	72413422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:72413422G>A	uc010iic.3	+	19	2796	c.2679G>A	c.(2677-2679)atG>atA	p.M893I	SLC4A4_uc003hfy.3_Missense_Mutation_p.M893I|SLC4A4_uc010iib.3_Intron|SLC4A4_uc003hfz.3_Missense_Mutation_p.M893I|SLC4A4_uc003hgc.4_Missense_Mutation_p.M849I|SLC4A4_uc010iid.3_Missense_Mutation_p.M97I	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	893						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CAGTCTTTATGGCTCCCATCT	0.388000														58			28		0	0	0.008361	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283696	151283696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:151283696C>T	uc004ffj.3	-	2	489	c.317G>A	c.(316-318)cGa>cAa	p.R106Q	MAGEA5_uc022cgy.1_Missense_Mutation_p.R106Q	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	106	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					GAGTGCTGCTCGGAACACAGA	0.512000														62			37		0	0	0.005524	0	0
RASGRP3	25780	broad.mit.edu	37	2	33774770	33774770	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:33774770G>A	uc002rox.3	+	14	2121	c.1494G>A	c.(1492-1494)caG>caA	p.Q498Q	RASGRP3_uc010ync.2_Silent_p.Q498Q|RASGRP3_uc002roy.3_Silent_p.Q497Q	NM_170672	NP_733772	Q8IV61	GRP3_HUMAN	Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA.	498					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					ATAATTTTCAGGAGATGACCT	0.403000														20			13		0	0	0.001368	0	0
ATP7A	538	broad.mit.edu	37	X	77243950	77243950	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:77243950G>A	uc004ecx.4	+	2	493	c.333G>A	c.(331-333)aaG>aaA	p.K111K	ATP7A_uc004ecw.2_Silent_p.K111K	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	111					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TGAAGACCAAGGGTGTGACAG	0.438000														286			58		0	0	0.003610	0	0
NSUN7	79730	broad.mit.edu	37	4	40796465	40796465	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:40796465G>A	uc003gvj.4	+	8	1749	c.1254G>A	c.(1252-1254)caG>caA	p.Q418Q	NSUN7_uc003gvi.4_Silent_p.Q418Q	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTCAACAGCAGTATGAACAGC	0.343000														10			9		0	0	0.008291	0	0
APOB	338	broad.mit.edu	37	2	21260931	21260931	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:21260931C>T	uc002red.3	-	4	564	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	146	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.P145P(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATCTTTCTCCGGGTAAAGG	0.493000														175			133		0	0	0.003610	0	0
GPR123	84435	broad.mit.edu	37	10	134912195	134912195	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr10:134912195C>T	uc001llw.3	+	12	2343	c.2343C>T	c.(2341-2343)ttC>ttT	p.F781F	GPR123_uc001llx.4_Silent_p.F61F			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	61						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATTTCTGCTTCCACGCGGCCC	0.652000														8			26		0	0	0.003954	0	0
NRXN1	9378	broad.mit.edu	37	2	50758484	50758484	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:50758484G>A	uc021vhh.1	-	9	3149	c.2228C>T	c.(2227-2229)tCc>tTc	p.S743F	NRXN1_uc002rxb.4_Missense_Mutation_p.S415F|NRXN1_uc021vhg.1_Missense_Mutation_p.S783F|NRXN1_uc021vhi.1_Missense_Mutation_p.S779F|NRXN1_uc021vhj.1_Missense_Mutation_p.S739F|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	743	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAACCGTAAGGAAACATCCTC	0.512000														15			4		0	0	0.000248	0	0
FBXO21	23014	broad.mit.edu	37	12	117603355	117603355	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr12:117603355C>G	uc001twk.3	-	8	1300	c.1261G>C	c.(1261-1263)Gac>Cac	p.D421H	FBXO21_uc001twj.3_Missense_Mutation_p.D421H|FBXO21_uc009zwq.3_Missense_Mutation_p.D361H	NM_033624	NP_296373	O94952	FBX21_HUMAN	Homo sapiens F-box protein 21 (FBXO21), transcript variant 1, mRNA.	421					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TGCACCTGGTCCGGGTACATT	0.493000														37			19		0	0	0.007413	0	0
FGD5	152273	broad.mit.edu	37	3	14862703	14862703	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:14862703C>T	uc003bzc.3	+	0	2235	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W	FGD5_uc011avk.2_Missense_Mutation_p.R709W	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	709					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCTTAAGTCTCGGACTGGGAA	0.557000														23			14		0	0	0.001855	0	0
SPESP1	246777	broad.mit.edu	37	15	69223007	69223008	+	Missense_Mutation	DNP	CC	TT	TT	rs150328243	byFrequency	TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr15:69223007_69223008CC>TT	uc002arn.2	+	0	169_170	c.15_16CC>TT	c.(13-18)gtcctt>gtTTtt	p.L6F	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_5'UTR|NOX5_uc002arp.2_5'UTR|NOX5_uc010bid.2_5'UTR	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	6					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCCCTTAGTCCTTCTAGTTGC	0.619000														82			48		0	0	0.004672	0	0
CPA4	51200	broad.mit.edu	37	7	129944388	129944388	+	Missense_Mutation	SNP	C	G	G	rs141042847		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr7:129944388C>G	uc003vpr.3	+	4	502	c.455C>G	c.(454-456)tCg>tGg	p.S152W	CPA4_uc011kpd.2_Missense_Mutation_p.S119W|CPA4_uc011kpe.2_Missense_Mutation_p.S48W	NM_016352	NP_057436	Q9UI42	CBPA4_HUMAN	Homo sapiens carboxypeptidase A4 (CPA4), transcript variant 1, mRNA.	152					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.S152L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					ATTGGACATTCGTTTGAAAAC	0.527000														54			17		0	0	0.008871	0	0
NIPAL1	152519	broad.mit.edu	37	4	48027085	48027085	+	Splice_Site	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr4:48027085G>A	uc003gxw.3	+	2	113	c.47_splice	c.e2-1	p.G16_splice		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	16						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTTTTTCCAGGATATGTGCTG	0.488000														54			28		0	0	0.007291	0	0
ODZ1	10178	broad.mit.edu	37	X	123657238	123657238	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:123657238C>A	uc010nqy.3	-	16	3073	c.3009G>T	c.(3007-3009)agG>agT	p.R1003S	ODZ1_uc011muj.2_Missense_Mutation_p.R1002S|ODZ1_uc004euj.3_Missense_Mutation_p.R1003S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1003					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						CAATAGTTCCCCTCTCTGGAC	0.433000														56			30		1.39806e-14	4.20916e-14	0.008361	1	0
IPO5	3843	broad.mit.edu	37	13	98645159	98645159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:98645159C>T	uc001vne.3	+	9	917	c.737C>T	c.(736-738)tCg>tTg	p.S246L	IPO5_uc001vnf.1_Missense_Mutation_p.S228L|IPO5_uc010tik.1_Missense_Mutation_p.S103L|IPO5_uc010til.1_Missense_Mutation_p.S168L	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	228					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTAAATGACTCGTGCTACCAG	0.408000														57			23		0	0	0.003330	0	0
C1orf56	54964	broad.mit.edu	37	1	151020995	151020995	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:151020995G>A	uc001ewn.3	+	0	737	c.672G>A	c.(670-672)ggG>ggA	p.G224G	C1orf56_uc021oyi.1_Silent_p.G224G	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	224						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCCGGTCTGGGAAGCTGCACG	0.657000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		53			23		0	0	0.001882	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161705	12161705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:12161705G>A	uc003nac.3	+	7	6700	c.6521G>A	c.(6520-6522)gGa>gAa	p.G2174E	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2174					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGCGATCTGGATATGATCTT	0.408000														47			51		0	0	0.003610	0	0
AAMP	14	broad.mit.edu	37	2	219131697	219131697	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:219131697G>A	uc002vhl.3	-	3	494	c.410C>T	c.(409-411)tCt>tTt	p.S137F	AAMP_uc002vhk.3_Missense_Mutation_p.S136F	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	136					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAAGTCACAGAGTCTTTATG	0.507000														26			11		0	0	0.000978	0	0
SCN10A	6336	broad.mit.edu	37	3	38763770	38763770	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:38763770G>A	uc003ciq.3	-	18	3486	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1162					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGCTGAGCAGGATCATGAAGA	0.537000														29			19		0	0	0.007413	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466705	50466705	+	Missense_Mutation	SNP	T	C	C	rs61747166		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr13:50466705T>C	uc001vdk.2	+	0	2161	c.1979T>C	c.(1978-1980)tTc>tCc	p.F660S						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GAAATGGAATTCAGTGGAAAT	0.413000														81			5		0	0	0.001168	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18766242	18766242	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:18766242G>A	uc010exr.3	-	3	379	c.267C>T	c.(265-267)ctC>ctT	p.L89L	NT5C1B-RDH14_uc002rcy.3_Silent_p.L147L|NT5C1B-RDH14_uc010yju.2_Silent_p.L87L|NT5C1B-RDH14_uc002rcz.3_Silent_p.L147L|NT5C1B-RDH14_uc010yjw.2_Silent_p.L130L|NT5C1B-RDH14_uc010yjv.2_Silent_p.L164L|NT5C1B-RDH14_uc010exs.3_Silent_p.L149L|NT5C1B-RDH14_uc002rda.3_Silent_p.L87L|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_5'UTR	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	147					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										AGCTGCTGGGGAGCTGCAGCA	0.637000														17			4		0	0	0.000248	0	0
KDM3B	51780	broad.mit.edu	37	5	137761262	137761262	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:137761262A>T	uc003lcy.1	+	16	4602	c.4402A>T	c.(4402-4404)Atc>Ttc	p.I1468F	KDM3B_uc010jew.1_Missense_Mutation_p.I1124F|KDM3B_uc011cys.1_Missense_Mutation_p.I500F	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	1468					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGGTTTCGAGATCATATGCAG	0.408000														39			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179587548	179587548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr2:179587548C>T	uc021vsy.1	-	72	18571	c.18346G>A	c.(18346-18348)Gat>Aat	p.D6116N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D2777N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7043	Ig-like 42.						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)			AATTTGGTATCTCCTTTGTAC	0.428000														11			13		0	0	0.003163	0	0
OR5D18	219438	broad.mit.edu	37	11	55587908	55587908	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:55587908C>T	uc010rin.2	+	0	803	c.803C>T	c.(802-804)tCc>tTc	p.S268F		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCAAAAACTCCAGGCACACA	0.507000														27			18		0	0	0.007413	0	0
NOD2	64127	broad.mit.edu	37	16	50744798	50744798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr16:50744798C>T	uc002egm.1	+	3	1081	c.976C>T	c.(976-978)Ctc>Ttc	p.L326F	NOD2_uc021tia.1_Missense_Mutation_p.L158F|NOD2_uc010cbk.1_Missense_Mutation_p.L299F|NOD2_uc002egl.1_Missense_Mutation_p.L104F|NOD2_uc010cbl.1_Missense_Mutation_p.L104F|NOD2_uc010cbm.1_Missense_Mutation_p.L104F|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	326	NACHT.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.L326I(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCAGGAATTTCTCTTTGTCTT	0.592000														22			10		0	0	0.001368	0	0
LTA	4049	broad.mit.edu	37	6	31541257	31541257	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:31541257C>T	uc011dnu.1	+	3	618	c.405C>T	c.(403-405)gtC>gtT	p.V135V	LTA_uc003nue.1_Silent_p.V135V|LTA_uc003nuf.3_Intron|LTA_uc003nuh.3_Intron|LTA_uc003nug.3_Intron|LTA_uc010jsr.3_Intron|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	135					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CCCATGAGGTCCAGCTCTTCT	0.592000														106			17		0	0	0.004990	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64137784	64137784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:64137784C>T	uc001oae.3	+	14	1968	c.1885C>T	c.(1885-1887)Cgc>Tgc	p.R629C	RPS6KA4_uc001oad.3_Missense_Mutation_p.R623C|RPS6KA4_uc010rnl.2_Missense_Mutation_p.R566C|RPS6KA4_uc001oaf.3_Missense_Mutation_p.R622C|RPS6KA4_uc009ypp.3_Missense_Mutation_p.R381C	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	629	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						GTGCAAAATCCGCGAGGGGCG	0.657000														62			18		0	0	0.006122	0	0
CLSTN2	64084	broad.mit.edu	37	3	140167423	140167423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:140167423C>T	uc003etn.3	+	5	1040	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CLSTN2_uc003etm.2_Missense_Mutation_p.H284Y	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	284					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CCCCAGCATCCACCTGGAGAC	0.537000										HNSCC(16;0.037)				86			47		0	0	0.003610	0	0
PUM1	9698	broad.mit.edu	37	1	31501645	31501645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:31501645C>T	uc001bsi.1	-	2	543	c.430G>A	c.(430-432)Gag>Aag	p.E144K	PUM1_uc001bsh.1_Missense_Mutation_p.E144K|PUM1_uc001bsj.1_Missense_Mutation_p.E144K|PUM1_uc010oga.1_Missense_Mutation_p.E144K|PUM1_uc001bsk.1_Missense_Mutation_p.E180K|PUM1_uc010ogb.1_Missense_Mutation_p.E180K	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	144					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TCACTTACCTCTCCCATCGCT	0.408000														70			27		0	0	0.002445	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:77776234C>T	uc003yau.2	+	10	10671	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)				14			4		0	0	0.000248	0	0
SH3TC2	79628	broad.mit.edu	37	5	148388436	148388436	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:148388436G>A	uc003lpu.3	-	14	3608	c.3456C>T	c.(3454-3456)gcC>gcT	p.A1152A	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Silent_p.A796A|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Silent_p.A699A|SH3TC2_uc010jgx.3_Silent_p.A1145A	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	1152							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGGCGGCCAGGGTGG	0.512000														69			25		0	0	0.003954	0	0
SCAND3	114821	broad.mit.edu	37	6	28542960	28542960	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr6:28542960G>A	uc003nlo.3	-	2	2140	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	508	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TGATAGGGCTGATTTTGGGAC	0.423000														68			33		0	0	0.002836	0	0
HAPLN1	1404	broad.mit.edu	37	5	82948575	82948575	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr5:82948575C>T	uc003kim.3	-	1	240	c.169G>A	c.(169-171)Gtt>Att	p.V57I	HAPLN1_uc003kin.3_Missense_Mutation_p.V57I	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	57	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		GGCAGTGTAACATTGCCACCT	0.393000														26			17		0	0	0.004990	0	0
ZMAT1	84460	broad.mit.edu	37	X	101139525	101139525	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:101139525T>G	uc011mrl.2	-	6	1224	c.874A>C	c.(874-876)Aag>Cag	p.K292Q	ZMAT1_uc004eim.3_Missense_Mutation_p.K121Q|ZMAT1_uc004ein.3_Missense_Mutation_p.K121Q|ZMAT1_uc011mrm.2_Missense_Mutation_p.K121Q	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	121						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGTAACTGCTTTTCCATTGCT	0.403000														103			27		0	0	0.006320	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955459	18955459	+	Silent	SNP	G	A	A			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:18955459G>A	uc001mpg.3	-	0	1091	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	291					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAGCCCTCTGGAGAACCAGCT	0.542000														34			10		0	0	0.008291	0	0
OR4K1	79544	broad.mit.edu	37	14	20404452	20404452	+	Silent	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr14:20404452C>T	uc001vwj.2	+	0	686	c.627C>T	c.(625-627)agC>agT	p.S209S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TATCATTGAGCTGTTTCCTGG	0.443000														52			15		0	0	0.004007	0	0
CEP89	84902	broad.mit.edu	37	19	33444550	33444550	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr19:33444550C>T	uc002nty.3	-	3	552	c.463G>A	c.(463-465)Gac>Aac	p.D155N	CEP89_uc002ntx.3_5'UTR|CEP89_uc010edg.3_Non-coding_Transcript|CEP89_uc002nua.3_Missense_Mutation_p.D155N|CEP89_uc002nub.1_Missense_Mutation_p.D47N	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	155						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GCGTACAGGTCATCACTGTGG	0.488000														376			12		0	0	0.001523	0	0
ADCK3	56997	broad.mit.edu	37	1	227153415	227153431	+	Frame_Shift_Del	DEL	TTGGCCGGCTGGCCAAC	-	-	rs119468005		TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr1:227153415_227153431delTTGGCCGGCTGGCCAAC	uc001hqm.1	+	8	4051_4067	c.632_648delTTGGCCGGCTGGCCAAC	c.(631-648)attggccggctggccaacfs	p.I211fs	ADCK3_uc001hqn.1_Frame_Shift_Del_p.I211fs|ADCK3_uc009xeq.1_Frame_Shift_Del_p.I159fs|ADCK3_uc010pvq.1_Intron|ADCK3_uc010pvr.1_5'UTR	NM_020247	NP_064632	Q8NI60	ADCK3_HUMAN	Homo sapiens aarF domain containing kinase 3 (ADCK3), nuclear gene encoding mitochondrial protein, mRNA.	211					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity	p.N214S(1)		endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTGACGAGGATTGGCCGGCTGGCCAACTTCGGAGGTA	0.645													---	24	---	---	8	---					
RBM5	10181	broad.mit.edu	37	3	50151482	50151483	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:50151482_50151483insG	uc003cyg.3	+	18	1892_1893	c.1717_1718insG	c.(1717-1719)aggfs	p.R573fs	RBM5_uc011bdj.2_Frame_Shift_Ins_p.R517fs|RBM5_uc011bdk.2_Frame_Shift_Ins_p.R401fs|RBM5_uc003cyh.3_Frame_Shift_Ins_p.R30fs	NM_005778	NP_005769	P52756	RBM5_HUMAN	Homo sapiens RNA binding motif protein 5 (RBM5), transcript variant 1, mRNA.	573	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAAGAAGAAAGGAGAGAATCT	0.426													---	52	---	---	10	---					
MUC13	56667	broad.mit.edu	37	3	124646549	124646552	+	Frame_Shift_Del	DEL	AATG	-	-			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr3:124646549_124646552delAATG	uc003ehq.2	-	1	377_380	c.338_341delCATT	c.(337-342)tcattafs	p.S113fs		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	113	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AGAGGTAGCTAATGAATTTACATT	0.412													---	119	---	---	47	---					
EIF3H	8667	broad.mit.edu	37	8	117658804	117658824	+	In_Frame_Del	DEL	CTGGCGCTGCATATTCTCCTG	-	-			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr8:117658804_117658824delCTGGCGCTGCATATTCTCCTG	uc003yob.3	-	8	1656_1676	c.889_909delCAGGAGAATATGCAGCGCCAG	c.(889-909)caggagaatatgcagcgccagdel	p.QENMQRQ297del	EIF3H_uc003yoa.3_In_Frame_Del_p.QENMQRQ283del	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	283					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					CTCCTCGGCTCTGGCGCTGCATATTCTCCTGCTGGCGACGC	0.520													---	126	---	---	14	---					
PTPN5	84867	broad.mit.edu	37	11	18762237	18762237	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:18762237delC	uc001mpd.3	-	7	1259	c.828delG	c.(826-828)gagfs	p.E276fs	PTPN5_uc001mpb.3_Frame_Shift_Del_p.E244fs|PTPN5_uc001mpc.3_Frame_Shift_Del_p.E276fs|PTPN5_uc010rdj.2_Frame_Shift_Del_p.E220fs|PTPN5_uc001mpf.3_Frame_Shift_Del_p.E252fs|PTPN5_uc001mpe.3_Frame_Shift_Del_p.E244fs|PTPN5_uc010rdk.2_Frame_Shift_Del_p.E221fs	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	276						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.R275R(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TGAGCAGGTACTCGCGGGCGG	0.597													---	18	---	---	19	---					
SLC22A6	9356	broad.mit.edu	37	11	62744845	62744845	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:62744845delC	uc001nwk.3	-	8	1709	c.1376delG	c.(1375-1377)ggafs	p.G459fs	SLC22A6_uc001nwl.3_Intron|SLC22A6_uc001nwj.3_Frame_Shift_Del_p.G459fs|SLC22A6_uc001nwm.3_Intron	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	459					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.G459*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCTGCCCATTCCCATGCCTGT	0.607													---	5	---	---	5	---					
USP28	57646	broad.mit.edu	37	11	113673923	113673924	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr11:113673923_113673924insC	uc001poh.3	-	22	2851_2852	c.2818_2819insG	c.(2818-2820)gtcfs	p.V940fs	USP28_uc001pog.3_Frame_Shift_Ins_p.V616fs|USP28_uc010rwy.2_Frame_Shift_Ins_p.V783fs|USP28_uc001poi.3_Frame_Shift_Ins_p.V263fs	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	940					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)		GGATTCTTTGACCCCCCGGCGG	0.455													---	41	---	---	17	---					
ZNF287	57336	broad.mit.edu	37	17	16455883	16455885	+	In_Frame_Del	DEL	GAA	-	-			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chr17:16455883_16455885delGAA	uc021trd.1	-	5	2189_2191	c.1571_1573delTTC	c.(1570-1575)cttcag>cag	p.L524del	ZNF287_uc002gqi.2_In_Frame_Del_p.L524del	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	517					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		TTTTGATGCTGAAGAAGGTGTGT	0.350													---	59	---	---	14	---					
TAF1	6872	broad.mit.edu	37	X	70612480	70612480	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A2MP-06A-11D-A197-08	TCGA-EE-A2MP-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6526a259-00e0-4ab5-b0d3-dec541791b81	c288ef56-e293-401a-bfac-ed4d76b8724b	g.chrX:70612480delT	uc004dzu.4	+	18	2891	c.2840delT	c.(2839-2841)ctgfs	p.L947fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Del_p.L968fs|TAF1_uc004dzv.4_Frame_Shift_Del_p.L121fs	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	947					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGCAAGTGTCTGCTAGAGGTG	0.507													---	46	---	---	45	---