Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
LOC101927209	101927209	broad.mit.edu	37	1	142713458	142713458	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:142713458G>T	ENST00000369381.2	-	0	1147																											TTACTTGTACGGAAACGTCTT	0.328000													19	29					2.94398e-08	3.65172e-08	1	1	0
DAGLA	747	broad.mit.edu	37	11	61495623	61495623	+	Splice_Site	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:61495623A>T	ENST00000257215.5	+	7	752		c.e7-1			NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha						cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TGGACCTCGTAGGATGCCTAC	0.607000													30	42					0	0	1	0	0
CXorf66	347487	broad.mit.edu	37	X	139038281	139038281	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:139038281G>T	ENST00000370540.1	-	3	883	c.860C>A	c.(859-861)tCt>tAt	p.S287Y		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	287						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						CTTTGCCTCAGAAATATCATT	0.388000													87	15					3.71514e-35	6.64343e-35	1	1	0
SPATA31D1	389763	broad.mit.edu	37	9	84608041	84608041	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:84608041G>C	ENST00000344803.2	+	4	2703	c.2656G>C	c.(2656-2658)Gtt>Ctt	p.V886L		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GGACCACTGCGTTGATACTTC	0.438000													15	41					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145111990	145111990	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:145111990C>T	ENST00000426825.1	-	12	1648	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	523							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TCAGCCAGGGCCAGCCCCAGG	0.672000													7	1					0	0	1	0	0
KRT3	3850	broad.mit.edu	37	12	53189282	53189282	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:53189282G>C	ENST00000417996.2	-	1	619	c.545C>G	c.(544-546)cCc>cGc	p.P182R	KRT3_ENST00000309505.3_Missense_Mutation_p.P182R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	182	Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CACATTGAGGGGCTGCAGGAG	0.562000													17	29					0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74817551	74817551	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:74817551A>T	ENST00000358399.3	+	3	370	c.277A>T	c.(277-279)Agt>Tgt	p.S93C	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Missense_Mutation_p.S19C|GDA_ENST00000376989.3_Missense_Mutation_p.S68C|GDA_ENST00000238018.4_Missense_Mutation_p.S93C|GDA_ENST00000376986.1_Missense_Mutation_p.S51C	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	93					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTTTGCTGGAAGTAGCATAGA	0.418000													30	74					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131526	110131526	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:110131526A>T	ENST00000518632.1	+	3	1390	c.1039A>T	c.(1039-1041)Aac>Tac	p.N347Y	TRHR_ENST00000311762.2_Missense_Mutation_p.N347Y			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	347						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAAACCTGCTAACTACAGTGT	0.478000													61	215					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83748689	83748689	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:83748689C>T	ENST00000432794.1	-	25	3326	c.3163G>A	c.(3163-3165)Gct>Act	p.A1055T	SEC31A_ENST00000348405.4_Missense_Mutation_p.A1003T|SEC31A_ENST00000505984.1_Missense_Mutation_p.A988T|SEC31A_ENST00000500777.2_Missense_Mutation_p.A889T|SEC31A_ENST00000311785.7_Missense_Mutation_p.A928T|SEC31A_ENST00000448323.1_Missense_Mutation_p.A1042T|SEC31A_ENST00000509142.1_Missense_Mutation_p.A928T|SEC31A_ENST00000395310.2_Missense_Mutation_p.A1042T|SEC31A_ENST00000326950.5_Missense_Mutation_p.A1003T|SEC31A_ENST00000505472.1_Missense_Mutation_p.A1073T|SEC31A_ENST00000443462.2_Missense_Mutation_p.A1022T|SEC31A_ENST00000355196.2_Missense_Mutation_p.A1042T|SEC31A_ENST00000264405.5_Missense_Mutation_p.A791T|SEC31A_ENST00000508502.1_Missense_Mutation_p.A1027T|SEC31A_ENST00000513858.1_Missense_Mutation_p.A889T			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1042	Interaction with PDCD6.|Pro-rich.		P -> T (in dbSNP:rs35739017).		COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GGTACTGGAGCTGAAGGCTGT	0.532000													55	74					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277185	152277185	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152277185G>C	ENST00000368799.1	-	3	10212	c.10177C>G	c.(10177-10179)Cat>Gat	p.H3393D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3393	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGTTCATGAGTGCTCACC	0.617000									Ichthyosis				100	533					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921778	24921778	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:24921778C>A	ENST00000329468.2	+	1	1238	c.764C>A	c.(763-765)cCt>cAt	p.P255H		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTGGAAAGCCTGATCCGGAT	0.647000													28	10					7.76418e-22	1.24327e-21	1	1	0
BTNL2	56244	broad.mit.edu	37	6	32372945	32372945	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:32372945G>T	ENST00000454136.3	-	2	202	c.198C>A	c.(196-198)taC>taA	p.Y66*	BTNL2_ENST00000429232.2_Nonsense_Mutation_p.Y66*|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.Y66*|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.Y66*			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	66	Ig-like V-type 1.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GCTCTGAGCGGTACCACCTCA	0.582000													163	24					1.6827e-80	3.20576e-80	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39525942	39525942	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39525942A>T	ENST00000251646.3	-	1	110	c.61T>A	c.(61-63)Tgt>Agt	p.C21S		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	21	Head.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGGGGCACACAGGGCCGGGAG	0.632000													19	39					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639929	156639929	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:156639929C>A	ENST00000368223.3	-	4	4183	c.4051G>T	c.(4051-4053)Gag>Tag	p.E1351*		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1351	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					tcctccccctcctccttttcT	0.617000													40	62					6.5261e-18	9.80565e-18	1	1	0
ASMT	438	broad.mit.edu	37	X	1755360	1755360	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:1755360G>T	ENST00000381241.3	+	8	1016	c.817G>T	c.(817-819)Gct>Tct	p.A273S	ASMT_ENST00000381229.4_Missense_Mutation_p.A245S|ASMT_ENST00000381233.3_Missense_Mutation_p.A198S	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	245					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		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)				TCTTCCGGAAGCTGATCTGTA	0.537000													34	23					9.17885e-22	1.46507e-21	1	1	0
C1orf106	55765	broad.mit.edu	37	1	200877000	200877000	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:200877000C>G	ENST00000367342.4	+	6	1014	c.814C>G	c.(814-816)Ctc>Gtc	p.L272V	C1orf106_ENST00000413687.2_Missense_Mutation_p.L187V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	272										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GTCAGATGGGCTCCTCCTGGA	0.507000													13	20					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3680041	3680041	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:3680041T>A	ENST00000344754.4	-	7	1593	c.1594A>T	c.(1594-1596)Aga>Tga	p.R532*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.R532*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	532	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGGCCGCTTCTGCAGCTCAGT	0.677000													4	8					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114682278	114682278	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:114682278G>A	ENST00000393296.1	-	2	548	c.471C>T	c.(469-471)acC>acT	p.T157T	SYT6_ENST00000369547.1_Silent_p.T72T			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	157					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCAGCCGGGTGTGACGCA	0.607000													10	14					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55453062	55453062	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:55453062T>C	ENST00000588756.1	-	4	504	c.18A>G	c.(16-18)ctA>ctG	p.L6L	NLRP7_ENST00000340844.2_Silent_p.L6L|NLRP7_ENST00000592784.1_Silent_p.L6L|NLRP7_ENST00000590030.1_Silent_p.L6L|NLRP7_ENST00000328092.5_Silent_p.L6L|NLRP7_ENST00000446217.1_Silent_p.L34L|NLRP7_ENST00000448121.2_Silent_p.L6L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	6	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)		GAGTCCACTCTAGCTGGGGCG	0.468000													7	41					0	0	1	0	0
SLC25A10	1468	broad.mit.edu	37	17	79684440	79684440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:79684440C>A	ENST00000331531.5	+	8	666	c.546C>A	c.(544-546)taC>taA	p.Y182*	SLC25A10_ENST00000545862.1_Nonsense_Mutation_p.Y139*|SLC25A10_ENST00000571730.1_Nonsense_Mutation_p.Y337*|SLC25A10_ENST00000541223.1_Nonsense_Mutation_p.Y337*|SLC25A10_ENST00000350690.5_Nonsense_Mutation_p.Y182*	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	182					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGTCCTGCTACGACCAGGCCA	0.612000													55	49					7.89702e-26	1.32151e-25	1	1	0
ABCA5	23461	broad.mit.edu	37	17	67270188	67270188	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:67270188G>A	ENST00000392676.3	-	20	2740	c.2676C>T	c.(2674-2676)ccC>ccT	p.P892P	ABCA5_ENST00000392677.2_Silent_p.P892P|ABCA5_ENST00000588877.1_Silent_p.P892P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	892					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CAAGTTTGATGGGAACCACAG	0.323000													40	90					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41032899	41032899	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:41032899C>A	ENST00000399564.4	-	24	2836	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	MROH2B_ENST00000506092.2_Missense_Mutation_p.D351Y	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTAAGGAATCCAGGGGCTCG	0.403000													14	13					4.3838e-07	5.27476e-07	1	1	0
NELL1	4745	broad.mit.edu	37	11	20699561	20699561	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:20699561C>G	ENST00000298925.5	+	3	376	c.223C>G	c.(223-225)Cag>Gag	p.Q75E	NELL1_ENST00000357134.5_Missense_Mutation_p.Q47E|NELL1_ENST00000532434.1_Missense_Mutation_p.Q47E|NELL1_ENST00000325319.5_Missense_Mutation_p.Q47E			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	47					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TGGAGTTGCTCAGGTGTCTGG	0.507000													35	52					0	0	1	0	0
ADNP2	22850	broad.mit.edu	37	18	77895672	77895672	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:77895672G>T	ENST00000262198.4	+	4	2831	c.2376G>T	c.(2374-2376)agG>agT	p.R792S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	792					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GCAGGAATAGGCACCTGGGGA	0.463000													37	39					4.11147e-13	5.68869e-13	1	1	0
ALDH8A1	64577	broad.mit.edu	37	6	135254062	135254062	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:135254062G>A	ENST00000265605.2	-	5	769	c.701C>T	c.(700-702)cCc>cTc	p.P234L	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P234L|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P184L	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	234					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		CTCAGCGGTGGGCTGGCTCCC	0.627000													21	29					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105421104	105421104	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:105421104G>T	ENST00000333244.5	-	7	803	c.684C>A	c.(682-684)acC>acA	p.T228T		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	228						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTTCGTGGGGGTCTCTCTGC	0.592000													22	19					8.04996e-18	1.20587e-17	1	1	0
SCAI	286205	broad.mit.edu	37	9	127781386	127781386	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:127781386C>A	ENST00000336505.5	-	8	766	c.708_splice	c.e8+1	p.E236_splice	SCAI_ENST00000373549.4_Splice_Site_p.E259_splice	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion	236					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AAAAACTGACCTCAATGAAAG	0.313000													14	17					0.0202918	0.0209837	1	1	0
KCTD11	147040	broad.mit.edu	37	17	7256789	7256789	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:7256789G>T	ENST00000333751.3	+	1	1582	c.528G>T	c.(526-528)ctG>ctT	p.L176L	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	176					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				GACTGGGGCTGCAGCCGCTGT	0.692000													17	5					0.000566183	0.000617277	1	1	0
TNFSF9	8744	broad.mit.edu	37	19	6531264	6531264	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:6531264G>T	ENST00000245817.3	+	1	255	c.217G>T	c.(217-219)Ggt>Tgt	p.G73C		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	73					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACTCCGCGAGGGTCCCGAGCT	0.756000													10	0					2.17888e-05	2.4735e-05	1	1	0
ABCG4	64137	broad.mit.edu	37	11	119029412	119029412	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:119029412C>G	ENST00000307417.3	+	11	1677	c.1313C>G	c.(1312-1314)gCc>gGc	p.A438G	ABCG4_ENST00000531739.1_Missense_Mutation_p.A438G|ABCG4_ENST00000449422.2_Missense_Mutation_p.A438G	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	438	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATGTTCGCCGCCCTCATGCCA	0.632000													29	57					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182850427	182850427	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:182850427G>T	ENST00000367549.3	+	23	2763	c.2653G>T	c.(2653-2655)Gct>Tct	p.A885S	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	885					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TACCATTGCTGCTGCTACCTG	0.458000													47	76					1.03325e-14	1.46928e-14	1	1	0
PCDH11X	27328	broad.mit.edu	37	X	91134203	91134203	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:91134203C>A	ENST00000373094.1	+	2	3809	c.2964C>A	c.(2962-2964)ccC>ccA	p.P988P	PCDH11X_ENST00000395337.2_Silent_p.P988P|PCDH11X_ENST00000504220.1_Silent_p.P988P|PCDH11X_ENST00000361655.2_Silent_p.P988P|PCDH11X_ENST00000406881.1_Silent_p.P988P|PCDH11X_ENST00000373097.1_Silent_p.P988P|PCDH11X_ENST00000298274.8_Silent_p.P988P|PCDH11X_ENST00000361724.1_Silent_p.P988P|PCDH11X_ENST00000373088.1_Silent_p.P988P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	988					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTTCAGATCCCTACAGCGTTT	0.493000													76	21					1.38705e-31	2.43348e-31	1	1	0
LY75	4065	broad.mit.edu	37	2	160673341	160673341	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:160673341T>C	ENST00000263636.4	-	30	4383	c.4356A>G	c.(4354-4356)ctA>ctG	p.L1452L	LY75_ENST00000554112.1_Silent_p.L1452L|LY75_ENST00000553424.1_Silent_p.L1452L|LY75-CD302_ENST00000505052.1_Silent_p.L1452L|LY75-CD302_ENST00000504764.1_Silent_p.L1452L	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GCCCAACCCATAGTGGAAATC	0.388000													39	72					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63637170	63637170	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:63637170C>A	ENST00000392769.2	-	25	2929	c.2711G>T	c.(2710-2712)cGa>cTa	p.R904L	CEP112_ENST00000537949.1_Missense_Mutation_p.R862L|CEP112_ENST00000317442.8_Missense_Mutation_p.R160L|CEP112_ENST00000541355.1_Missense_Mutation_p.R468L|CEP112_ENST00000535342.2_Missense_Mutation_p.R904L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	904						centrosome				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						ATATTCTTGTCGTATGTAAGT	0.323000													35	94					1.26612e-14	1.79699e-14	1	1	0
OR6Q1	219952	broad.mit.edu	37	11	57798932	57798932	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:57798932C>A	ENST00000302622.3	+	1	531	c.508C>A	c.(508-510)Cta>Ata	p.L170I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CTTGTCTCAGCTAACATTTTA	0.522000													31	68					1.06801e-11	1.42979e-11	1	1	0
EIF4G1	1981	broad.mit.edu	37	3	184045221	184045221	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:184045221C>T	ENST00000342981.4	+	23	4063	c.3649C>T	c.(3649-3651)Cgt>Tgt	p.R1217C	EIF4G1_ENST00000427845.1_Missense_Mutation_p.R1130C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R1223C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R1021C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R1216C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R1223C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R1052C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R1216C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R1129C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R1223C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R1053C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R1177C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R1020C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R1176C	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1216					insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGATCGGGACCGTGGGCGGGA	0.617000													29	44					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66436706	66436706	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:66436706C>A	ENST00000383703.3	-	14	2163	c.1560G>T	c.(1558-1560)caG>caT	p.Q520H	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.Q496H			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	496	Ig-like C2-type 1.|Poly-Ser.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTGATGATCTGTGGCTTCA	0.537000													16	114					6.94344e-10	8.97214e-10	1	1	0
UTP23	84294	broad.mit.edu	37	8	117778951	117778951	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:117778951G>T	ENST00000309822.2	+	1	210	c.109G>T	c.(109-111)Gcg>Tcg	p.A37S	UTP23_ENST00000517820.1_Missense_Mutation_p.A37S|UTP23_ENST00000357148.3_Missense_Mutation_p.A37S	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	37					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTTCTGTCAGGCGGCGCTGCG	0.657000											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	20					0.00448238	0.00471729	1	1	0
ZNF681	148213	broad.mit.edu	37	19	23927112	23927112	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:23927112T>A	ENST00000402377.3	-	4	1381	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C	ZNF681_ENST00000395385.3_Missense_Mutation_p.S345C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTATGAATGCTCTTATGTCTA	0.368000													42	15					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	100964121	100964121	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:100964121C>A	ENST00000369162.2	-	39	6354	c.6010G>T	c.(6010-6012)Gga>Tga	p.G2004*		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTTTCCCTCCACAGGCATGG	0.468000													12	54					2.39556e-15	3.43943e-15	1	1	0
GPRIN3	285513	broad.mit.edu	37	4	90169364	90169364	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:90169364C>A	ENST00000333209.3	-	2	2416	c.1898G>T	c.(1897-1899)cGc>cTc	p.R633L		NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	633										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GCTGGGCCTGCGTGGGCTGGC	0.572000													28	37					1.17739e-12	1.60809e-12	1	1	0
FAM83C	128876	broad.mit.edu	37	20	33876682	33876682	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:33876682A>T	ENST00000374408.3	-	2	689	c.593T>A	c.(592-594)gTc>gAc	p.V198D		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	198										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GTACACAGGGACACCACGCCG	0.602000													41	42					0	0	1	0	0
CHCHD3	54927	broad.mit.edu	37	7	132659949	132659949	+	Missense_Mutation	SNP	G	G	A	rs144725283		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:132659949G>A	ENST00000262570.5	-	4	493	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Missense_Mutation_p.R117C|CHCHD3_ENST00000542753.1_Missense_Mutation_p.R117C	NM_017812.2	NP_060282.1	Q9NX63	CHCH3_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	117					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						GCCTTAGCGCGTTCCTCCTCG	0.478000													8	80					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144081661	144081661	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:144081661G>T	ENST00000427704.2	+	5	675	c.545G>T	c.(544-546)gGg>gTg	p.G182V	PHACTR2_ENST00000367584.4_Intron|PHACTR2_ENST00000367582.3_Intron|PHACTR2_ENST00000440869.2_Missense_Mutation_p.G193V|PHACTR2_ENST00000305766.6_Intron	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	182							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		GCCACTGCTGGGGCCAGCCAC	0.562000													16	22					1.3612e-06	1.60536e-06	1	1	0
SLC4A4	8671	broad.mit.edu	37	4	72102328	72102328	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:72102328C>T	ENST00000425175.1	+	2	152	c.35C>T	c.(34-36)tCc>tTc	p.S12F	SLC4A4_ENST00000351898.6_Missense_Mutation_p.S12F|SLC4A4_ENST00000264485.5_Missense_Mutation_p.S12F	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	12						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)			AGAGGGGCTTCCTTCCTCAAG	0.433000													16	15					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55356413	55356413	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:55356413G>A	ENST00000524622.1	-	7	1516	c.855C>T	c.(853-855)acC>acT	p.T285T	TESPA1_ENST00000532804.1_Silent_p.T285T|TESPA1_ENST00000449076.1_Silent_p.T423T|TESPA1_ENST00000531122.1_Silent_p.T285T|TESPA1_ENST00000316577.8_Silent_p.T423T	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	423																	TGGCTGGATGGGTTTCCGTAT	0.498000													57	79					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269018	65269018	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:65269018G>T	ENST00000534336.1	+	0	3786					NR_002819.2																						TAACAGGGAAGAGAGAGGGTG	0.403000													12	33					6.40141e-05	7.18467e-05	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58979598	58979598	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:58979598G>T	ENST00000361050.3	-	1	826	c.741C>A	c.(739-741)acC>acA	p.T247T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	247	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TGAAGTTCACGGTGTTTTGAA	0.532000													9	22					0.000274275	0.000301459	1	1	0
CERCAM	51148	broad.mit.edu	37	9	131196737	131196737	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:131196737G>C	ENST00000372842.1	+	12	4290	c.1146G>C	c.(1144-1146)gaG>gaC	p.E382D	CERCAM_ENST00000372838.4_Missense_Mutation_p.E460D			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	460					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CGGCCGTGGAGGGGCTGCCGG	0.657000													14	48					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66405926	66405926	+	Splice_Site	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:66405926G>A	ENST00000404260.3	+	11	1674	c.1365_splice	c.e11-1	p.A456_splice	MAST4_ENST00000261569.7_Splice_Site_p.A259_splice|MAST4_ENST00000405643.1_Splice_Site_p.A274_splice|MAST4_ENST00000403666.1_Splice_Site_p.A264_splice|MAST4_ENST00000403625.2_Splice_Site_p.A453_splice|MAST4_ENST00000490016.2_Splice_Site_p.A264_splice			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	456						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTTTTCATAGGCTCATGATCG	0.368000													8	75					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159616787	159616787	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:159616787C>A	ENST00000511912.1	+	7	1155	c.823C>A	c.(823-825)Ctg>Atg	p.L275M	ETFDH_ENST00000307738.5_Missense_Mutation_p.L228M	NM_004453.2	NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	275					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		CGGGATTGGACTGAAGGAGGT	0.318000													11	50					1.58986e-06	1.8632e-06	1	1	0
TSKS	60385	broad.mit.edu	37	19	50247551	50247551	+	Missense_Mutation	SNP	C	C	A	rs144943269		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:50247551C>A	ENST00000246801.3	-	8	1380	c.1298G>T	c.(1297-1299)aGa>aTa	p.R433I	TSKS_ENST00000358830.3_Missense_Mutation_p.R233I	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	433							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTCAGGCCCTCTTCGAGAGTT	0.607000													62	8					5.19286e-32	9.1646e-32	1	1	0
HBG1	3047	broad.mit.edu	37	11	5269688	5269688	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:5269688C>A	ENST00000330597.3	-	3	432	c.345G>T	c.(343-345)ttG>ttT	p.L115F		NM_000559.2	NP_000550.2	P69891	HBG1_HUMAN	hemoglobin, gamma A	115					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGATTGCCAAAACGGTCA	0.527000													15	26					9.16793e-09	1.15064e-08	1	1	0
SLC39A14	23516	broad.mit.edu	37	8	22277095	22277095	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:22277095G>A	ENST00000381237.1	+	9	1482	c.1363G>A	c.(1363-1365)Gat>Aat	p.D455N	SLC39A14_ENST00000240095.6_Intron|SLC39A14_ENST00000289952.5_Missense_Mutation_p.D455N|SLC39A14_ENST00000359741.5_Missense_Mutation_p.D455N	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	455						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTGTCAAGAGGATGAAAGGAA	0.468000													34	121					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521867	64521867	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:64521867C>T	ENST00000355086.3	+	21	3291	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	SRGAP1_ENST00000543397.1_Missense_Mutation_p.R860W|SRGAP1_ENST00000357825.3_Missense_Mutation_p.R900W	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	923					axon guidance	cytosol		p.R923W(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAACATCAGCCGGCACGACTC	0.612000													12	24					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27493468	27493468	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:27493468C>A	ENST00000396271.3	-	12	1592	c.1466G>T	c.(1465-1467)tGg>tTg	p.W489L	ACBD5_ENST00000375901.1_Missense_Mutation_p.W380L|ACBD5_ENST00000375905.4_Missense_Mutation_p.W454L|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.W498L|ACBD5_ENST00000375897.3_Missense_Mutation_p.W312L	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	498					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						GAAGGGCCACCAAGATGGTCT	0.368000													11	29					3.07112e-06	3.56816e-06	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66535296	66535296	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:66535296G>T	ENST00000273854.3	-	1	765	c.165C>A	c.(163-165)gcC>gcA	p.A55A	EPHA5_ENST00000432638.2_Silent_p.A55A|EPHA5_ENST00000354839.4_Silent_p.A55A|EPHA5_ENST00000511294.1_Silent_p.A55A	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	55					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCTGGGGCTGGCCAGGAGGG	0.711000										TSP Lung(17;0.13)			5	9					0.217242	0.218566	1	1	0
HECW1	23072	broad.mit.edu	37	7	43503285	43503285	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:43503285C>A	ENST00000395891.1	+	14	3283	c.2678C>A	c.(2677-2679)gCa>gAa	p.A893E	HECW1_ENST00000453890.1_Missense_Mutation_p.A859E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	893					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CGAACCATTGCAACAGAGAGG	0.498000													11	145					0.000673444	0.000728339	1	1	0
OR1F2P	26184	broad.mit.edu	37	16	3265904	3265904	+	RNA	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:3265904G>C	ENST00000576468.1	+	0	418																											GCTGTCTCATGCAGATGTATT	0.507000													19	33					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951153	119951153	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:119951153C>T	ENST00000307142.4	+	4	1419	c.1223C>T	c.(1222-1224)aCc>aTc	p.T408I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.T408I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.T408I|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	408						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGAAATACACCCTAGTTAGC	0.517000													19	66					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561443	15561443	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:15561443C>A	ENST00000344577.2	-	2	432	c.407G>T	c.(406-408)cGg>cTg	p.R136L	LIPI_ENST00000536861.1_Missense_Mutation_p.R115L	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	115					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTAGCACCCCGGCTCCAGTC	0.388000													83	11					2.14232e-31	3.75412e-31	1	1	0
RASA3	22821	broad.mit.edu	37	13	114839284	114839284	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:114839284C>A	ENST00000334062.7	-	2	205	c.84G>T	c.(82-84)ccG>ccT	p.P28P	RASA3_ENST00000389544.4_5'UTR|RASA3_ENST00000542651.1_Silent_p.P28P	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	28	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			TGCTCGGCCCCGGGTAAGAGG	0.478000													39	47					5.04308e-16	7.34707e-16	1	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125660551	125660551	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:125660551C>A	ENST00000431078.1	+	22	3890	c.3526C>A	c.(3526-3528)Ctg>Atg	p.L1176M		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1176	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CATAGCACCACTGAAGGCTGC	0.522000													5	3					2.0095e-06	2.34573e-06	1	1	0
CAD	790	broad.mit.edu	37	2	27462666	27462666	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:27462666G>T	ENST00000264705.4	+	34	5658	c.5496_splice	c.e34+1	p.T1832_splice	CAD_ENST00000403525.1_Splice_Site_p.T1769_splice	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1832	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	AGATGACCACGGTATCCACAC	0.562000													20	30					1.33834e-09	1.71593e-09	1	1	0
KRTAP12-3	386683	broad.mit.edu	37	21	46078127	46078127	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:46078127G>T	ENST00000397907.1	+	1	279	c.231G>T	c.(229-231)caG>caT	p.Q77H	TSPEAR_ENST00000323084.4_Intron	NM_198697.2	NP_941970.2	P60328	KR123_HUMAN	keratin associated protein 12-3	77	14 X 5 AA approximate repeats.					intermediate filament				central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GGTGCTGCCAGCCCCCCTGCA	0.642000													94	9					6.21051e-42	1.13795e-41	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43305930	43305930	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:43305930T>C	ENST00000361428.2	-	10	5883	c.5806A>G	c.(5806-5808)Aga>Gga	p.R1936G	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1936					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGAGACTTCTGTACCTAGAA	0.418000													105	94					0	0	1	0	0
FOXG1	2290	broad.mit.edu	37	14	29237049	29237049	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:29237049G>T	ENST00000382535.3	+	2	933	c.564G>T	c.(562-564)gcG>gcT	p.A188A	FOXG1_ENST00000313071.4_Silent_p.A188A			P55316	FOXG1_HUMAN	forkhead box G1	188					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCTACAACGCGCTCATCATGA	0.607000													11	34					0.00136819	0.00146269	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99771697	99771697	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:99771697A>T	ENST00000370185.3	+	7	1920	c.1423A>T	c.(1423-1425)Aga>Tga	p.R475*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.R417*|LPPR4_ENST00000370184.1_Nonsense_Mutation_p.R317*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		475							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GTCACCACCCAGATCCATAGA	0.522000													66	59					0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434493	31434493	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:31434493G>T	ENST00000389202.2	+	24	2888	c.2839G>T	c.(2839-2841)Gag>Tag	p.E947*		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	947					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAAAATGAAAGAGGCTGAGCA	0.488000													7	16					8.12818e-05	9.07474e-05	1	1	0
PDGFRA	5156	broad.mit.edu	37	4	55133589	55133589	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:55133589A>T	ENST00000257290.5	+	6	1224	c.893A>T	c.(892-894)gAg>gTg	p.E298V	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	298	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GCTACCAGGGAGGTCAAAGAA	0.478000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			17	35					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520781	33520781	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:33520781C>G	ENST00000297307.5	-	1	631	c.546G>C	c.(544-546)gaG>gaC	p.E182D		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	182						integral to membrane											CCGTGGTCCCCTCCTGTAGTG	0.582000													12	199					0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18863669	18863669	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:18863669C>A	ENST00000446231.2	-	32	5296	c.4884G>T	c.(4882-4884)agG>agT	p.R1628S	SMG1_ENST00000389467.3_Missense_Mutation_p.R1628S			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1628	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTGCCCCACCTATAAGCCC	0.423000													31	48					1.7881e-09	2.29062e-09	1	1	0
C2orf71	388939	broad.mit.edu	37	2	29293991	29293991	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:29293991C>A	ENST00000331664.5	-	1	3136	c.3137G>T	c.(3136-3138)cGg>cTg	p.R1046L		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1046	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGAAGTTCGCCGCTTTGTGGT	0.672000													25	32					4.43304e-23	7.19944e-23	1	1	0
CCL16	6360	broad.mit.edu	37	17	34304735	34304735	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:34304735G>T	ENST00000293275.3	-	3	305	c.230C>A	c.(229-231)aCc>aAc	p.T77N		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	77					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGGGGTTGGTGCAGACTTC	0.542000													39	47					2.35958e-20	3.68701e-20	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55905149	55905149	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:55905149C>T	ENST00000301529.1	-	1	45	c.46G>A	c.(46-48)Ggt>Agt	p.G16S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CTAGAGACACCTGTGAGAATA	0.473000													24	75					0	0	1	0	0
U2SURP	23350	broad.mit.edu	37	3	142775241	142775241	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:142775241G>T	ENST00000397933.2	+	27	3094	c.1812G>T	c.(1810-1812)caG>caT	p.Q604H	U2SURP_ENST00000473835.2_Missense_Mutation_p.Q1013H|U2SURP_ENST00000493598.2_Missense_Mutation_p.Q1012H			O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	1013	CID.				RNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						CCAGATCCCAGTCCAGATCTC	0.388000													18	12					5.03518e-11	6.65683e-11	1	1	0
CIT	11113	broad.mit.edu	37	12	120152002	120152002	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:120152002C>A	ENST00000392521.2	-	33	4361	c.4306_splice	c.e33+1	p.E1436_splice	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Splice_Site_p.E1394_splice	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1394					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTGATCTTACCGAGACATTTG	0.468000													8	21					5.18039e-06	5.98605e-06	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64967479	64967479	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:64967479C>A	ENST00000399262.2	-	10	4168	c.3950G>T	c.(3949-3951)aGt>aTt	p.S1317I	JMJD1C_ENST00000399251.1_Missense_Mutation_p.S1098I|JMJD1C_ENST00000542921.1_Missense_Mutation_p.S1135I|JMJD1C_ENST00000402544.1_Missense_Mutation_p.S1098I	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1317					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TGCTGGCATACTATCAGTTTT	0.433000													65	112					1.7104e-27	2.9114e-27	1	1	0
TRBV11-2	28581	broad.mit.edu	37	7	142197571	142197571	+	RNA	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142197571C>T	ENST00000471935.1	-	0	406																											TACACTGTGTCTAAGCTGCTG	0.517000													11	166					0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164394869	164394869	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:164394869G>T	ENST00000280605.3	-	1	178	c.18C>A	c.(16-18)gcC>gcA	p.A6A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	6						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CGTCGGGCTTGGCGTCGTTGG	0.642000													14	22					4.7546e-09	6.01818e-09	1	1	0
TAB3	257397	broad.mit.edu	37	X	30873435	30873435	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:30873435T>C	ENST00000378933.1	-	3	524	c.347A>G	c.(346-348)cAg>cGg	p.Q116R	TAB3_ENST00000288422.2_Missense_Mutation_p.Q116R|TAB3_ENST00000378930.3_Missense_Mutation_p.Q116R|TAB3_ENST00000378932.2_Missense_Mutation_p.Q116R	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	116					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACATATCAGCTGTTTACCTGC	0.448000													26	11					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113715048	113715048	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:113715048C>T	ENST00000550785.1	+	13	1448	c.1279C>T	c.(1279-1281)Cct>Tct	p.P427S	TPCN1_ENST00000335509.6_Missense_Mutation_p.P355S|TPCN1_ENST00000541517.1_Missense_Mutation_p.P427S|TPCN1_ENST00000392569.4_Missense_Mutation_p.P287S	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	355						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CCCCCAGAGGCCTGCCGGCAT	0.587000													10	12					0	0	1	0	0
MBIP	51562	broad.mit.edu	37	14	36781180	36781180	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:36781180T>G	ENST00000416007.4	-	5	709	c.622A>C	c.(622-624)Aaa>Caa	p.K208Q	MBIP_ENST00000603913.1_5'UTR|MBIP_ENST00000318473.7_Missense_Mutation_p.K208Q|MBIP_ENST00000359527.7_Missense_Mutation_p.K208Q	NM_001144891.1|NM_016586.2	NP_001138363.1|NP_057670.2	Q9NS73	MBIP1_HUMAN	MAP3K12 binding inhibitory protein 1	208	Interaction with MAP3K12.				histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		ACGTGACTTTTAAATCCGGGG	0.328000													33	165					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213343	9213343	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:9213343G>T	ENST00000305456.2	-	1	639	c.640C>A	c.(640-642)Ctc>Atc	p.L214I		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TTATTGATGAGGGTGTCTGAA	0.463000													62	15					5.19286e-32	9.1646e-32	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1255246	1255246	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:1255246G>T	ENST00000348261.5	+	11	2832	c.2584G>T	c.(2584-2586)Ggc>Tgc	p.G862C	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G862C|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G862C	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	862					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CATCTTCGACGGCATCATCGT	0.602000													17	18					1.2644e-06	1.49594e-06	1	1	0
HSPA8	3312	broad.mit.edu	37	11	122929364	122929364	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:122929364T>A	ENST00000534624.1	-	7	1774	c.1498A>T	c.(1498-1500)Aag>Tag	p.K500*	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000534319.1_Nonsense_Mutation_p.K264*|HSPA8_ENST00000533540.1_Nonsense_Mutation_p.K354*|HSPA8_ENST00000532636.1_Nonsense_Mutation_p.K500*|HSPA8_ENST00000227378.3_Nonsense_Mutation_p.K500*|HSPA8_ENST00000526110.1_Nonsense_Mutation_p.K481*	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	500					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ATAGTAATCTTGTTCTCTTTT	0.443000													37	41					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18715811	18715811	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:18715811C>A	ENST00000433979.1	+	26	3758	c.3642C>A	c.(3640-3642)agC>agA	p.S1214R	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1214R|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1255R	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1214	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TAGGGTTCAGCAAGAAATCCA	0.398000													4	3					1	1	1	1	0
NAT2	10	broad.mit.edu	37	8	18258184	18258184	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:18258184C>T	ENST00000286479.3	+	2	778	c.671C>T	c.(670-672)tCc>tTc	p.S224F	NAT2_ENST00000520116.1_Missense_Mutation_p.S94F	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	224					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		TCATTTTGTTCCTTGCAGACC	0.373000									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				9	92					0	0	1	0	0
BUD13	84811	broad.mit.edu	37	11	116636085	116636085	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:116636085A>T	ENST00000260210.4	-	3	338	c.315T>A	c.(313-315)ctT>ctA	p.L105L	BUD13_ENST00000375445.3_Silent_p.L105L	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	105										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CACCTCCCAGAAGCTTCCATT	0.413000													24	35					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512635	61512635	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:61512635C>A	ENST00000266070.4	-	16	4998	c.4673G>T	c.(4672-4674)aGg>aTg	p.R1558M	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1558M	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1558					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGGGGGTCCCTGTGGTTTGA	0.697000													34	27					1.22384e-17	1.82409e-17	1	1	0
ZNF112	7665	broad.mit.edu	37	19	44844683	44844683	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:44844683T>A	ENST00000354340.4	-	2	60	c.9A>T	c.(7-9)acA>acT	p.T3T	ZNF112_ENST00000337401.4_Silent_p.T9T|CTC-512J12.6_ENST00000588212.1_Silent_p.T8T|ZNF112_ENST00000536500.1_Silent_p.T26T	NM_013380.3	NP_037512.3			zinc finger protein 112																		CATCCTTGAATGTCACCATCT	0.507000													92	15					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967910	4967910	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:4967910C>G	ENST00000380373.2	-	1	446	c.421G>C	c.(421-423)Gtc>Ctc	p.V141L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACTCTGACAGTTGTCAGG	0.428000													69	121					0	0	1	0	0
KCNMA1	3778	broad.mit.edu	37	10	78771794	78771794	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:78771794A>C	ENST00000286627.5	-	18	2975	c.2023T>G	c.(2023-2025)Ttt>Gtt	p.F675V	KCNMA1_ENST00000404857.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F679V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.F675V|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F675V|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F675V|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F675V	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	675					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	TTGCAGTAAAAAAATGCCCTG	0.433000													35	43					0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6577072	6577072	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:6577072G>C	ENST00000285599.3	+	1	171	c.135G>C	c.(133-135)gtG>gtC	p.V45V	MAN2B2_ENST00000504248.1_Silent_p.V45V	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	45					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TCTACACTGTGCAGGTAGGTG	0.721000													4	1					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18681917	18681917	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:18681917T>G	ENST00000308799.4	+	12	2711	c.2492T>G	c.(2491-2493)cTg>cGg	p.L831R	FBXW10_ENST00000301938.4_Missense_Mutation_p.L769R|FBXW10_ENST00000395665.4_Missense_Mutation_p.L822R|FBXW10_ENST00000395667.1_Missense_Mutation_p.L821R			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	822										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTTAGCGCCCTGCAGCACGCC	0.488000													40	37					0	0	1	0	0
POU3F2	5454	broad.mit.edu	37	6	99283457	99283457	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:99283457C>A	ENST00000328345.5	+	1	878	c.708C>A	c.(706-708)caC>caA	p.H236Q		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	236					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		CGCACCCACACCAGCAgccgc	0.781000													7	14					8.12818e-05	9.07474e-05	1	1	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701795	56701795	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:56701795T>A	ENST00000586855.2	-	5	1202	c.889A>T	c.(889-891)Aaa>Taa	p.K297*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.K297*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	297					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGCTTCTTTTGGGACTGCTC	0.517000													145	39					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130381180	130381180	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:130381180G>T	ENST00000529410.1	+	12	1238		c.e12-1		L3MBTL3_ENST00000533560.1_Splice_Site|L3MBTL3_ENST00000361794.2_Splice_Site|L3MBTL3_ENST00000526019.1_Splice_Site|L3MBTL3_ENST00000368139.2_Splice_Site|L3MBTL3_ENST00000368136.2_Splice_Site			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TTGCATTTTAGCATCAATCCT	0.353000													9	23					0.0692343	0.0709532	1	1	0
F9	2158	broad.mit.edu	37	X	138643699	138643699	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:138643699G>T	ENST00000218099.2	+	8	862	c.855G>T	c.(853-855)gaG>gaT	p.E285D	F9_ENST00000394090.2_Missense_Mutation_p.E247D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	285	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	ATAATATTGAGGAGACAGAAC	0.348000													30	61					1.13719e-10	1.49018e-10	1	1	0
FAM208B	54906	broad.mit.edu	37	10	5789336	5789336	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:5789336G>T	ENST00000328090.5	+	15	4577	c.3952G>T	c.(3952-3954)Gat>Tat	p.D1318Y		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1318																	AGAACTTCAGGATGTAGCTGA	0.453000													38	142					8.73648e-17	1.28794e-16	1	1	0
SYCP2	10388	broad.mit.edu	37	20	58496367	58496367	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:58496367T>A	ENST00000357552.3	-	4	391	c.166A>T	c.(166-168)Agg>Tgg	p.R56W	SYCP2_ENST00000371001.2_Missense_Mutation_p.R56W|SYCP2_ENST00000476314.1_5'UTR			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	56					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATATTTACCCTGCATATAAGG	0.313000													5	28					0	0	1	0	0
BICD2	23299	broad.mit.edu	37	9	95481865	95481865	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:95481865C>A	ENST00000356884.6	-	5	1130		c.e5-1		BICD2_ENST00000375512.3_Splice_Site	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)						microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCCGCTCCATCTGCAAAGGCA	0.612000													5	4					0.00116845	0.00125275	1	1	0
ECT2L	345930	broad.mit.edu	37	6	139164323	139164323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:139164323A>T	ENST00000423192.1	+	5	711	c.550A>T	c.(550-552)Aag>Tag	p.K184*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.K115*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.K184*			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	184					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ACAAAGAGAAAAGTGCCTGAG	0.408000			"""N, Splice, Mis"""		ETP ALL								45	46					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52250122	52250122	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:52250122C>A	ENST00000595042.1	-	3	267	c.126G>T	c.(124-126)ctG>ctT	p.L42L	FPR1_ENST00000304748.4_Silent_p.L42L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	42					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCCCGTTGCCCAGGACCCCGA	0.532000													64	12					3.57465e-26	6.00896e-26	1	1	0
C5orf58	133874	broad.mit.edu	37	5	169672980	169672980	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:169672980T>A	ENST00000521850.1	+	3	1861	c.172T>A	c.(172-174)Ttg>Atg	p.L58M	C5orf58_ENST00000517575.1_Intron|C5orf58_ENST00000593851.1_Missense_Mutation_p.L58M			C9J3I9	CE058_HUMAN	chromosome 5 open reading frame 58	58										large_intestine(1)|lung(4)|urinary_tract(1)	6						CTCCCAGTTATTGCTTTGTGA	0.343000													48	22					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125289072	125289072	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:125289072A>G	ENST00000304880.2	-	1	500	c.501T>C	c.(499-501)tgT>tgC	p.C167C		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CCCCAGTCACACAGAAGGACA	0.502000													22	27					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26158044	26158044	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:26158044C>T	ENST00000325250.1	+	2	1129	c.942C>T	c.(940-942)acC>acT	p.T314T		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	314							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AACAGAGAACCCAAGCCAGAG	0.517000													5	2					0	0	1	0	0
HAT1	8520	broad.mit.edu	37	2	172822981	172822981	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:172822981C>T	ENST00000264108.4	+	7	699	c.663C>T	c.(661-663)taC>taT	p.Y221Y	SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Silent_p.Y136Y	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	221					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			CCGTAGGCTACATGACAGTCT	0.438000													38	53					0	0	1	0	0
RALY	22913	broad.mit.edu	37	20	32664935	32664935	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:32664935C>T	ENST00000375114.3	+	7	1290	c.712C>T	c.(712-714)Cgg>Tgg	p.R238W	RALY_ENST00000246194.3_Missense_Mutation_p.R254W	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	254	Epitope (recognized by BKRF1 antibodies).|Poly-Gly.					catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						tggcagcagcCGGCCACCAGC	0.701000													4	13					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955634	55955634	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:55955634C>A	ENST00000373965.2	-	11	1508	c.1114G>T	c.(1114-1116)Ggt>Tgt	p.G372C	PCDH15_ENST00000373955.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Missense_Mutation_p.G350C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G350C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G335C|PCDH15_ENST00000320301.6_Missense_Mutation_p.G372C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395446.1_Missense_Mutation_p.G372C|PCDH15_ENST00000395440.1_Missense_Mutation_p.G372C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G372C|PCDH15_ENST00000409834.1_5'UTR|PCDH15_ENST00000395445.1_Missense_Mutation_p.G372C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G377C	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	372	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AGAGGATGACCATTGTCTTGT	0.348000										HNSCC(58;0.16)			31	48					7.11191e-15	1.01326e-14	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70076259	70076259	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:70076259C>A	ENST00000325845.7	-	0	327				PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						CCTACCTGCCCTGGAGTGGGC	0.418000													18	32					2.27731e-05	2.58326e-05	1	1	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907682	12907682	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:12907682C>A	ENST00000317869.6	-	2	686	c.461G>T	c.(460-462)cGa>cTa	p.R154L		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TTTGCCCCTTCGTGAGGTGTT	0.502000													37	141					1.57351e-24	2.60965e-24	1	1	0
CRLF1	9244	broad.mit.edu	37	19	18710582	18710582	+	Missense_Mutation	SNP	C	C	T	rs142326326		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:18710582C>T	ENST00000392386.3	-	2	383	c.190G>A	c.(190-192)Gga>Aga	p.G64R		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	64	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.G64R(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GGTGGGTCTCCGTGCACTGAG	0.652000													9	1					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169205970	169205970	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:169205970C>A	ENST00000393743.3	-	12	1853		c.e12+1			NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60								ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACAGAGCTTACCATCAAACTG	0.338000													18	31					9.16793e-09	1.15064e-08	1	1	0
DPH2	1802	broad.mit.edu	37	1	44437843	44437843	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:44437843C>T	ENST00000255108.3	+	5	1354	c.1182C>T	c.(1180-1182)caC>caT	p.H394H	DPH2_ENST00000412950.2_Silent_p.H259H|DPH2_ENST00000396758.2_Silent_p.H166H	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	394					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CTCCCTTCCACGTGGCTCTCC	0.567000													18	94					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76720889	76720889	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:76720889C>G	ENST00000369950.3	-	8	1049	c.860G>C	c.(859-861)gGa>gCa	p.G287A	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	287	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTACCTAAATCCTAACACATG	0.308000													4	23					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136667180	136667180	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:136667180C>G	ENST00000354570.3	-	17	2463	c.2053G>C	c.(2053-2055)Gta>Cta	p.V685L	MAP7_ENST00000544465.1_Missense_Mutation_p.V670L|MAP7_ENST00000454590.1_Missense_Mutation_p.V707L|MAP7_ENST00000438100.2_Missense_Mutation_p.V670L|MAP7_ENST00000432797.2_Missense_Mutation_p.V539L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	685					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGAACAGATACACCATTTTCA	0.313000													4	39					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22161179	22161179	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:22161179C>A	ENST00000389397.4	+	30	3224	c.362C>A	c.(361-363)gCg>gAg	p.A121E	VWA3A_ENST00000563755.1_Missense_Mutation_p.A121E|VWA3A_ENST00000389398.5_Missense_Mutation_p.A1019E			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1019						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAGATGCAGCGTGTCATGAG	0.572000													41	21					2.45108e-15	3.51235e-15	1	1	0
OR5B2	390190	broad.mit.edu	37	11	58190024	58190024	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:58190024G>C	ENST00000302581.2	-	1	762	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGGCACAGGTGGACAATGCTT	0.428000													19	29					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3294277	3294277	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:3294277C>A	ENST00000219596.1	-	8	1775	c.1736G>T	c.(1735-1737)cGt>cTt	p.R579L	MEFV_ENST00000339854.4_Missense_Mutation_p.R399L|MEFV_ENST00000541159.1_Missense_Mutation_p.R368L|MEFV_ENST00000536379.1_Missense_Mutation_p.R368L	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	579					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R579H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CATTTCTGAACGCAGGGTTTC	0.532000													11	28					1.11149e-13	1.54796e-13	1	1	0
TNN	63923	broad.mit.edu	37	1	175067680	175067680	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:175067680G>T	ENST00000239462.4	+	9	2181	c.2068G>T	c.(2068-2070)Gcc>Tcc	p.A690S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	690	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACGTGTGGGCCCAGAAGGG	0.607000													27	63					6.32553e-13	8.71153e-13	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139149465	139149465	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:139149465G>A	ENST00000395297.1	-	19	4110	c.3940C>T	c.(3940-3942)Ccc>Tcc	p.P1314S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1314										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGTCTTGGGGAGAAGCAACC	0.423000										HNSCC(54;0.14)			30	106					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2450626	2450626	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:2450626C>A	ENST00000378466.3	-	7	1003	c.991G>T	c.(991-993)Gtg>Ttg	p.V331L	PANK4_ENST00000435556.3_Missense_Mutation_p.V292L	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	331					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity	p.V331M(1)		breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CGCATGGTCACGGGGTGGCCC	0.607000													15	31					6.94344e-10	8.97214e-10	1	1	0
OR2T33	391195	broad.mit.edu	37	1	248436326	248436326	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:248436326C>A	ENST00000318021.2	-	1	812	c.791G>T	c.(790-792)aGg>aTg	p.R264M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	264					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)			GTTAGTGGACCTATGGGATTT	0.483000													85	88					2.36429e-26	3.97887e-26	1	1	0
NLRP11	204801	broad.mit.edu	37	19	56307571	56307571	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:56307571G>A	ENST00000443188.1	-	8	2927	c.2217C>T	c.(2215-2217)gcC>gcT	p.A739A	NLRP11_ENST00000592953.1_Silent_p.A640A|NLRP11_ENST00000589093.1_Silent_p.A739A|NLRP11_ENST00000589824.2_Silent_p.A685A|NLRP11_ENST00000360133.3_Silent_p.A685A	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	739							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGAGGAGAGAGGCGATTTCTT	0.488000													39	114					0	0	1	0	0
LOC101927905	101927905	broad.mit.edu	37	12	8391311	8391311	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:8391311C>A	ENST00000304751.9	+	0	585				FAM86FP_ENST00000427893.2_RNA																							TGACTGACGGCGGGTGCTTCA	0.542000													13	7					4.96729e-08	6.11042e-08	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31332813	31332813	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:31332813A>T	ENST00000544665.3	+	16	1941	c.1870A>T	c.(1870-1872)Atc>Ttc	p.I624F	ITGAM_ENST00000287497.8_Missense_Mutation_p.I623F	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	623					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGTCAAGGCAATCATGGAGTT	0.498000													69	183					0	0	1	0	0
VSTM1	284415	broad.mit.edu	37	19	54566998	54566998	+	Splice_Site	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:54566998C>T	ENST00000338372.2	-	1	209	c.34_splice	c.e1+1	p.G12_splice	VSTM1_ENST00000376626.1_Splice_Site_p.G12_splice|VSTM1_ENST00000425006.2_Splice_Site_p.G12_splice|VSTM1_ENST00000366170.2_5'UTR	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	12						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		GGAGACTCACCGAGGCAAAGC	0.572000													108	28					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75055641	75055641	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:75055641C>A	ENST00000326665.5	-	12	2068	c.1850G>T	c.(1849-1851)aGg>aTg	p.R617M	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.R420M	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	617	Glu-rich.							p.R617T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGAAGATGACCTTCTGGCACT	0.438000													19	67					1.40151e-16	2.06407e-16	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13409777	13409777	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:13409777C>G	ENST00000360228.5	-	19	2669	c.2670G>C	c.(2668-2670)gaG>gaC	p.E890D	CACNA1A_ENST00000573710.2_Missense_Mutation_p.E891D	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	891					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCGGCTCAGCTCGGCCTCCT	0.751000													4	0					0	0	1	0	0
KCTD13	253980	broad.mit.edu	37	16	29918369	29918369	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:29918369G>T	ENST00000568000.1	-	6	1815	c.814C>A	c.(814-816)Ccc>Acc	p.P272T		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	272					cell migration|DNA replication|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GGGCCCCGGGGAGTCTCGTAG	0.652000													16	35					1.15088e-07	1.39837e-07	1	1	0
NAGK	55577	broad.mit.edu	37	2	71300695	71300695	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:71300695G>T	ENST00000418807.3	+	5	561	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	NAGK_ENST00000455662.2_Missense_Mutation_p.V230F|NAGK_ENST00000244204.5_Missense_Mutation_p.V184F			Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	184					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	TATCGGCTACGTCAAACAGGC	0.517000													85	118					1.42954e-44	2.6356e-44	1	1	0
CCNB1IP1	57820	broad.mit.edu	37	14	20784612	20784612	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:20784612C>A	ENST00000398169.3	-	5	687	c.71G>T	c.(70-72)tGg>tTg	p.W24L	CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.W24L|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.W24L			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	24						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GGCAGTGACCCATGCATAGCC	0.473000			T	HMGA2	leiomyoma								39	14					3.09479e-21	4.90283e-21	1	1	0
OR51E2	81285	broad.mit.edu	37	11	4703328	4703328	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:4703328A>T	ENST00000396950.3	-	2	853	c.614T>A	c.(613-615)gTc>gAc	p.V205D		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CACGCCCATGACCAGCAGAAT	0.493000													18	48					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161113336	161113336	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:161113336C>A	ENST00000523217.1	+	2	381	c.139C>A	c.(139-141)Ctg>Atg	p.L47M	GABRA6_ENST00000274545.5_Missense_Mutation_p.L47M|GABRA6_ENST00000522269.1_3'UTR	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	47					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L47M(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGACAATCGGCTGCGGCCGGG	0.488000										TCGA Ovarian(5;0.080)			68	20					2.01178e-46	3.72292e-46	1	1	0
INSC	387755	broad.mit.edu	37	11	15134051	15134051	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:15134051C>A	ENST00000379554.3	+	1	82	c.36C>A	c.(34-36)agC>agA	p.S12R		NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	12					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AGGCGGCCAGCGAAGGTCCAG	0.602000													6	27					2.0095e-06	2.34573e-06	1	1	0
SARDH	1757	broad.mit.edu	37	9	136532055	136532055	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:136532055C>A	ENST00000371868.1	-	8	1616	c.783G>T	c.(781-783)ccG>ccT	p.P261P	SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Intron|SARDH_ENST00000371872.4_Intron|SARDH_ENST00000422262.2_Intron			Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	832					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCGTCCACAGCGGCCTGGAGG	0.627000													4	4					0.150653	0.152397	1	1	0
SFRP4	6424	broad.mit.edu	37	7	37955912	37955912	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:37955912G>A	ENST00000436072.2	-	1	605	c.228C>T	c.(226-228)ttC>ttT	p.F76F	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	76	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGCACAGAGGAAGAAGCGCA	0.637000													31	43					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73479952	73479952	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:73479952C>G	ENST00000539919.1	+	13	1834	c.1463C>G	c.(1462-1464)gCa>gGa	p.A488G	CCT7_ENST00000258091.5_Missense_Mutation_p.A532G|CCT7_ENST00000538797.1_Missense_Mutation_p.A404G|CCT7_ENST00000398422.2_Missense_Mutation_p.A328G|CCT7_ENST00000537131.1_Missense_Mutation_p.A432G|CCT7_ENST00000540468.1_Missense_Mutation_p.A445G	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	532					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GCTCCCACAGCAGCAGGCCGG	0.637000													6	18					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165380287	165380287	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:165380287T>G	ENST00000359842.5	-	5	984	c.682A>C	c.(682-684)Acc>Ccc	p.T228P	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	228	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TGACCACTGGTAGCACATTCT	0.488000													21	55					0	0	1	0	0
LDOC1	23641	broad.mit.edu	37	X	140271041	140271041	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:140271041T>A	ENST00000370526.2	-	1	269	c.166A>T	c.(166-168)Acg>Tcg	p.T56S	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	56					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CCATTAAACGTTTCGGGGAAG	0.622000													34	7					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279943	152279943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152279943C>A	ENST00000368799.1	-	3	7454	c.7419G>T	c.(7417-7419)agG>agT	p.R2473S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2473	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGGATCCCTGCCTTCCTCCAC	0.582000									Ichthyosis				120	659					1.44263e-45	2.66635e-45	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39913963	39913963	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:39913963G>A	ENST00000425673.1	+	16	2507	c.2182G>A	c.(2182-2184)Gat>Aat	p.D728N	PLEKHG2_ENST00000409797.2_Intron|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.D757N|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.D698N			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	757					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGATTCCCAGATGAGCTGGC	0.602000													36	40					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11000999	11000999	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:11000999G>T	ENST00000324288.8	+	11	1783	c.1650G>T	c.(1648-1650)cgG>cgT	p.R550R	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	550	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCCGGCCCCGGGGCCGCCTGG	0.677000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								10	25					1.76689e-08	2.2101e-08	1	1	0
BAI1	575	broad.mit.edu	37	8	143614776	143614776	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:143614776C>A	ENST00000517894.1	+	25	4413	c.3519C>A	c.(3517-3519)gaC>gaA	p.D1173E	BAI1_ENST00000323289.5_Missense_Mutation_p.D1173E			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1173					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CTGTCTTCGACTCGCTGGAGG	0.677000													9	42					3.09899e-07	3.74398e-07	1	1	0
CALCB	797	broad.mit.edu	37	11	15098835	15098835	+	Silent	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:15098835C>G	ENST00000523376.1	+	9	1523	c.261C>G	c.(259-261)tcC>tcG	p.S87S	CALCB_ENST00000324229.6_Silent_p.S76S|CALCB_ENST00000533448.1_Silent_p.S76S			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	76					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						AAATCAGCTCCGCTGCCCAGA	0.542000													24	18					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551110	7551110	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:7551110G>C	ENST00000313599.3	-	7	1536	c.1479C>G	c.(1477-1479)taC>taG	p.Y493*	CD163L1_ENST00000416109.2_Nonsense_Mutation_p.Y503*|CD163L1_ENST00000396630.1_Nonsense_Mutation_p.Y493*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	493	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.Y493Y(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACTCTCCTTGGTATTTCACCT	0.473000													57	25					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3887996	3887996	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:3887996G>T	ENST00000319331.3	+	2	2432	c.1671G>T	c.(1669-1671)tcG>tcT	p.S557S	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	557	Fibronectin type-III.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TAAAATGGTCGTCTGCCACCA	0.443000													55	132					1.46156e-29	2.52543e-29	1	1	0
OR5K2	402135	broad.mit.edu	37	3	98217159	98217159	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:98217159G>A	ENST00000427338.1	+	1	712	c.635G>A	c.(634-636)gGt>gAt	p.G212D	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TTTACCATAGGTAGTGTCTTA	0.383000													60	99					0	0	1	0	0
KIAA1328	57536	broad.mit.edu	37	18	34647099	34647099	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:34647099G>C	ENST00000591619.1	+	7	1597	c.811G>C	c.(811-813)Ggg>Cgg	p.G271R	KIAA1328_ENST00000586501.1_5'UTR|KIAA1328_ENST00000586135.1_5'UTR|KIAA1328_ENST00000543923.1_Missense_Mutation_p.G167R|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000280020.5_Missense_Mutation_p.G275R			Q86T90	K1328_HUMAN	KIAA1328	275										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TGAATCTCCAGGGAGAAAACC	0.403000													10	68					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67194970	67194970	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:67194970A>C	ENST00000371037.4	+	20	1843	c.1766A>C	c.(1765-1767)gAa>gCa	p.E589A	SGIP1_ENST00000371036.3_Missense_Mutation_p.E391A|SGIP1_ENST00000371035.3_Missense_Mutation_p.E379A|SGIP1_ENST00000371039.1_Missense_Mutation_p.E392A|SGIP1_ENST00000237247.6_Missense_Mutation_p.E620A|SGIP1_ENST00000435165.2_Missense_Mutation_p.E94A	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	589					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATTACCGGAGAAATGGTGTTG	0.428000													44	38					0	0	1	0	0
PMS1	5378	broad.mit.edu	37	2	190656638	190656638	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:190656638G>T	ENST00000441310.2	+	2	336	c.103G>T	c.(103-105)Gct>Tct	p.A35S	PMS1_ENST00000409985.1_Missense_Mutation_p.A35S|PMS1_ENST00000418224.3_5'UTR|PMS1_ENST00000409823.3_Missense_Mutation_p.A35S|PMS1_ENST00000374826.4_Missense_Mutation_p.A35S|PMS1_ENST00000432292.3_5'UTR|PMS1_ENST00000447232.2_Missense_Mutation_p.A35S|PMS1_ENST00000421722.1_3'UTR	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	35					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CTCCTTGGATGCTGGTGCCAC	0.428000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					12	29					0.000151284	0.000168396	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1270618	1270618	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:1270618C>A	ENST00000447027.1	+	31	12575	c.12517C>A	c.(12517-12519)Ctg>Atg	p.L4173M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.L4170M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4170	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGAGCAGCCCCTGGGCCTCGA	0.682000													15	29					5.45024e-15	7.78007e-15	1	1	0
RASGRF2	5924	broad.mit.edu	37	5	80521582	80521582	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:80521582C>G	ENST00000265080.4	+	27	3774	c.3707C>G	c.(3706-3708)cCt>cGt	p.P1236R	CTC-281B15.1_ENST00000511495.1_RNA|CTC-281B15.1_ENST00000503483.2_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	1236					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CCTCGACTCCCTGCTTGAAGA	0.468000													19	29					0	0	1	0	0
CTC-260F20.3	0	broad.mit.edu	37	19	19637067	19637067	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:19637067C>T	ENST00000555938.1	+	2	183	c.171C>T	c.(169-171)cgC>cgT	p.R57R	NDUFA13_ENST00000252576.5_Silent_p.R140R|NDUFA13_ENST00000507754.3_Silent_p.R57R|NDUFA13_ENST00000503283.1_Silent_p.R57R|NDUFA13_ENST00000428459.2_Silent_p.R57R|CTC-260F20.3_ENST00000586674.1_3'UTR																							ACCGTGAGCGCAGGTAGGGCC	0.612000													3	19					0	0	1	0	0
RPL7	6129	broad.mit.edu	37	8	74203860	74203860	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:74203860G>C	ENST00000396467.1	-	5	483	c.345C>G	c.(343-345)taC>taG	p.Y115*	RPL7_ENST00000352983.2_Nonsense_Mutation_p.Y155*|RPL7_ENST00000396465.1_Nonsense_Mutation_p.Y115*|RPL7_ENST00000396466.1_Nonsense_Mutation_p.Y115*	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	155					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			AACCACGCTTGTAGATTAGTT	0.368000													29	45					0	0	1	0	0
SSRP1	6749	broad.mit.edu	37	11	57102099	57102099	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:57102099G>C	ENST00000278412.2	-	3	344	c.78C>G	c.(76-78)agC>agG	p.S26R		NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	26					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TGCCCTGACGGCTCAACCTCA	0.517000													33	64					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134225116	134225116	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:134225116C>A	ENST00000250160.6	+	2	185	c.79C>A	c.(79-81)Cca>Aca	p.P27T	WISP1_ENST00000220856.6_Missense_Mutation_p.P27T|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000517423.1_Missense_Mutation_p.P27T|WISP1_ENST00000377863.2_Intron	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	27					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			GGCCCTCTCTCCAGCCCCTAC	0.637000													5	17					0.000602214	0.000653205	1	1	0
ZNF496	84838	broad.mit.edu	37	1	247492594	247492594	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:247492594C>A	ENST00000294753.4	-	3	751	c.287G>T	c.(286-288)cGg>cTg	p.R96L	ZNF496_ENST00000366498.2_Missense_Mutation_p.R96L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	96	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CTGGATCTCCCGGGGCAGGAT	0.697000													18	37					2.94398e-08	3.65172e-08	1	1	0
CWC25	54883	broad.mit.edu	37	17	36962607	36962607	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:36962607C>A	ENST00000225428.4	-	8	1241	c.944G>T	c.(943-945)aGg>aTg	p.R315M	CWC25_ENST00000536127.1_Missense_Mutation_p.R252M	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	315										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TGATGGGCTCCTAGTTTGGCC	0.507000													7	14					0.00307968	0.00325723	1	1	0
MCC	4163	broad.mit.edu	37	5	112421001	112421001	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:112421001C>A	ENST00000302475.4	-	7	1398	c.835G>T	c.(835-837)Gag>Tag	p.E279*	MCC_ENST00000515367.2_Nonsense_Mutation_p.E216*|MCC_ENST00000408903.3_Nonsense_Mutation_p.E469*|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378.1	P23508	CRCM_HUMAN	mutated in colorectal cancers	279					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.E279K(1)|p.E469K(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTTGAAGCTCTCTGACCTGA	0.532000													53	72					4.80248e-07	5.77386e-07	1	1	0
SCARF1	8578	broad.mit.edu	37	17	1548986	1548986	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:1548986C>A	ENST00000263071.4	-	1	55	c.6G>T	c.(4-6)ggG>ggT	p.G2G	SCARF1_ENST00000571272.1_Silent_p.G2G|SCARF1_ENST00000348987.3_Silent_p.G2G	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	2					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGCCCCAGCCCCATGGCAG	0.682000													5	1					0.014758	0.0152718	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77761296	77761296	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:77761296G>T	ENST00000521891.2	+	7	4025	c.3577G>T	c.(3577-3579)Gca>Tca	p.A1193S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1167S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1148S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1148S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1148						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			ACTCCTGCTGGCAAAAGAAGA	0.388000										HNSCC(33;0.089)			3	2					0.115264	0.117317	1	1	0
WDR78	79819	broad.mit.edu	37	1	67337072	67337072	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:67337072T>A	ENST00000371026.3	-	6	976	c.921A>T	c.(919-921)aaA>aaT	p.K307N	WDR78_ENST00000431318.1_Missense_Mutation_p.K53N|WDR78_ENST00000371023.3_Missense_Mutation_p.K307N|WDR78_ENST00000371022.3_Missense_Mutation_p.K307N	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	307										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATTATGATTTTATCACATT	0.308000													19	58					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37953992	37953992	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:37953992C>G	ENST00000436072.2	-	2	886	c.509G>C	c.(508-510)tGt>tCt	p.C170S	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	170					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TAGGCGTTTACAGTCAACATC	0.473000													43	51					0	0	1	0	0
CREB3L1	90993	broad.mit.edu	37	11	46341923	46341923	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:46341923G>T	ENST00000529193.1	+	11	1818	c.1367G>T	c.(1366-1368)gGg>gTg	p.G456V	CREB3L1_ENST00000288400.3_Missense_Mutation_p.G456V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	456					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ATCAACCCCGGGGGGCCGGCA	0.642000			T	FUS	myxofibrosarcoma								6	4					0.00116845	0.00125275	1	1	0
GALNTL6	442117	broad.mit.edu	37	4	173734726	173734726	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:173734726C>G	ENST00000506823.1	+	7	1432	c.775C>G	c.(775-777)Ccc>Gcc	p.P259A	GALNTL6_ENST00000508122.1_Missense_Mutation_p.P242A	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	259						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						CATCGTGTGTCCCATGATCGA	0.438000													13	49					0	0	1	0	0
CTGF	1490	broad.mit.edu	37	6	132270415	132270415	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:132270415C>G	ENST00000367976.3	-	5	1239	c.1039G>C	c.(1039-1041)Gac>Cac	p.D347H		NM_001901.2	NP_001892.1	P29279	CTGF_HUMAN	connective tissue growth factor	347	Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CATGCCATGTCTCCGTACATC	0.418000													22	54					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677796	3677796	+	Nonsense_Mutation	SNP	G	G	C	rs145810514	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:3677796G>C	ENST00000344754.4	-	9	2315	c.2316C>G	c.(2314-2316)taC>taG	p.Y772*	SIGLEC1_ENST00000202578.4_Nonsense_Mutation_p.Y772*	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	772	Ig-like C2-type 7.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						TGCGGCAGGCGTAAAGGGCAG	0.632000													9	34					0	0	1	0	0
MYRF	745	broad.mit.edu	37	11	61544777	61544777	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:61544777G>T	ENST00000278836.5	+	12	1728	c.1632G>T	c.(1630-1632)ttG>ttT	p.L544F	MYRF_ENST00000327797.1_Missense_Mutation_p.L169F|MYRF_ENST00000265460.5_Missense_Mutation_p.L535F|TMEM258_ENST00000535042.1_Intron	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		GCGATGTGTTGTGGCAGCGGG	0.662000													15	32					2.61681e-11	3.4844e-11	1	1	0
HCRTR2	3062	broad.mit.edu	37	6	55142305	55142305	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:55142305G>T	ENST00000370862.3	+	5	1226	c.890G>T	c.(889-891)cGa>cTa	p.R297L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	297					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAGCAGATCCGAGCCAGAAGG	0.493000													12	40					2.68362e-12	3.64521e-12	1	1	0
KRTAP3-1	83896	broad.mit.edu	37	17	39165300	39165300	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39165300G>A	ENST00000391588.1	-	1	66	c.27C>T	c.(25-27)tgC>tgT	p.C9C	KRTAP3-1_ENST00000581033.1_Intron	NM_031958.1	NP_114164.1	Q9BYR8	KRA31_HUMAN	keratin associated protein 3-1	9	4 X 5 AA repeats of C-C-X(3).					keratin filament	structural molecule activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00043)				TGGGGACGCTGCAGGAGCGGA	0.567000													38	44					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377489	61377489	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:61377489G>T	ENST00000544088.1	+	0	124				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GAGCTGAACAGTAACAACATA	0.438000													8	6					5.18039e-06	5.98605e-06	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144873993	144873993	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:144873993G>A	ENST00000369359.4	-	34	5410	c.5372C>T	c.(5371-5373)tCt>tTt	p.S1791F	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.S1611F|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.S1655F|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.S1655F|PDE4DIP_ENST00000530740.1_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1655					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTTTAGAAGACAACACAGC	0.468000			T	PDGFRB	MPD								89	405					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091126	106091126	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:106091126C>A	ENST00000390543.2	-	0	670																											CTGTGGCTCTCGGGGCTGCCC	0.652000													111	963					4.493e-44	8.27336e-44	1	1	0
MYO7B	4648	broad.mit.edu	37	2	128380917	128380917	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:128380917G>T	ENST00000389524.4	+	28	3761	c.3708G>T	c.(3706-3708)ctG>ctT	p.L1236L	MYO7B_ENST00000409090.1_Silent_p.L89L|MYO7B_ENST00000409816.2_Silent_p.L1236L|MYO7B_ENST00000428314.1_Silent_p.L1236L			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1236	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCGACCACCTGGGCTTCTCCC	0.642000													11	2					4.68919e-08	5.78268e-08	1	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3142081	3142081	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:3142081G>T	ENST00000252463.2	-	2	555	c.468C>A	c.(466-468)ccC>ccA	p.P156P	ZSCAN10_ENST00000538082.2_Intron|ZSCAN10_ENST00000572548.1_Intron|ZSCAN10_ENST00000575108.1_5'UTR	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	156	Pro-rich.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						ATGTCTTCTGGGGCCCCGGGC	0.672000													17	16					1.67942e-08	2.10245e-08	1	1	0
OR2A25	392138	broad.mit.edu	37	7	143771333	143771333	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:143771333C>A	ENST00000408898.2	+	1	59	c.21C>A	c.(19-21)tcC>tcA	p.S7S		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					ATCAGACTTCCATCACAGAGT	0.458000													40	64					2.40579e-17	3.57859e-17	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20487838	20487838	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:20487838C>A	ENST00000504154.1	+	7	807	c.555C>A	c.(553-555)aaC>aaA	p.N185K	SLIT2_ENST00000273739.5_Missense_Mutation_p.N185K|SLIT2_ENST00000503837.1_Missense_Mutation_p.N185K|SLIT2_ENST00000503823.1_Missense_Mutation_p.N185K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	185					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCAACAATAACAACATTACTA	0.264000													4	33					0.00909568	0.00946511	1	1	0
WDFY2	115825	broad.mit.edu	37	13	52330482	52330482	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:52330482G>T	ENST00000298125.5	+	10	1128	c.948G>T	c.(946-948)aaG>aaT	p.K316N		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	316							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		ACTGCCGCAAGTGTGGGAAGG	0.607000													42	19					3.38236e-24	5.57226e-24	1	1	0
TBR1	10716	broad.mit.edu	37	2	162273332	162273332	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:162273332C>T	ENST00000389554.3	+	1	728	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ACCCCGCCTTCTCCATCGGCA	0.667000													59	94					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57905802	57905802	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:57905802G>A	ENST00000262644.4	-	1	601	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	115						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AACATCTTGCGGTTGGACAGC	0.682000													4	12					0	0	1	0	0
ZC3H12B	340554	broad.mit.edu	37	X	64722883	64722883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:64722883G>T	ENST00000338957.4	+	5	2372	c.2305G>T	c.(2305-2307)Gag>Tag	p.E769*	ZC3H12B_ENST00000423889.3_Nonsense_Mutation_p.E758*	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	758							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAAAGATGGAGCAGCTTTG	0.478000													16	5					3.45872e-05	3.91444e-05	1	1	0
AMFR	267	broad.mit.edu	37	16	56423147	56423147	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:56423147G>C	ENST00000290649.5	-	9	1436	c.1226C>G	c.(1225-1227)gCc>gGc	p.A409G		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	409					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TCTCCCTTCGGCTGCTGCTAC	0.438000													24	19					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373323	5373323	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:5373323T>C	ENST00000380219.1	+	1	586	c.586T>C	c.(586-588)Tat>Cat	p.Y196H	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAACCGTCTCTATCCAGTTGT	0.438000													41	53					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71004105	71004105	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:71004105A>G	ENST00000357250.6	-	5	619	c.461T>C	c.(460-462)gTa>gCa	p.V154A	COL9A1_ENST00000370496.3_Missense_Mutation_p.V154A	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	154	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GTATGAAAATACAACAGATTG	0.433000													46	77					0	0	1	0	0
IDE	3416	broad.mit.edu	37	10	94291554	94291554	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:94291554C>A	ENST00000265986.6	-	4	668	c.612G>T	c.(610-612)ttG>ttT	p.L204F		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	204					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAGCTTTTTCCAATTGAAAGA	0.438000													40	7					3.61848e-18	5.47562e-18	1	1	0
KLHL6	89857	broad.mit.edu	37	3	183211929	183211929	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:183211929C>T	ENST00000341319.3	-	5	1323	c.1288G>A	c.(1288-1290)Gac>Aac	p.D430N		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	430										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGTAAGCCGTCAAAGCCTCCG	0.463000													60	95					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61607738	61607738	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:61607738A>T	ENST00000583023.1	+	4	521	c.510A>T	c.(508-510)acA>acT	p.T170T	KCNH6_ENST00000314672.5_Silent_p.T170T|KCNH6_ENST00000456941.2_Silent_p.T170T|KCNH6_ENST00000581784.1_Silent_p.T170T|KCNH6_ENST00000580652.1_Silent_p.T170T	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	170					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GGCCAGGCACAGGCAGGGGCA	0.637000													36	97					0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416466	144416466	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:144416466C>A	ENST00000367569.2	-	1	288	c.169G>T	c.(169-171)Gag>Tag	p.E57*		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	57					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		CTCTCATTCTCCGCAATGGCG	0.572000													43	38					6.5261e-18	9.80565e-18	1	1	0
PCLO	27445	broad.mit.edu	37	7	82545774	82545774	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:82545774C>A	ENST00000423517.2	-	7	11865	c.11528G>T	c.(11527-11529)aGa>aTa	p.R3843I	PCLO_ENST00000437081.1_Missense_Mutation_p.R563I|PCLO_ENST00000333891.8_Missense_Mutation_p.R3843I	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3774	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCGGGTTGGTCTTGTGCTACT	0.473000													92	22					1.52223e-32	2.6929e-32	1	1	0
PKP1	5317	broad.mit.edu	37	1	201286764	201286764	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:201286764A>T	ENST00000263946.3	+	5	1162	c.911A>T	c.(910-912)cAg>cTg	p.Q304L	PKP1_ENST00000367324.3_Missense_Mutation_p.Q304L|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000352845.3_Missense_Mutation_p.Q304L	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	304					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CAGAACGTCCAGCAGGCCGCG	0.647000													11	12					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606479	55606479	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:55606479G>T	ENST00000378396.1	+	1	252	c.252G>T	c.(250-252)ctG>ctT	p.L84L		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCATGATGCTGGTGAACCTGG	0.383000													67	131					9.39563e-20	1.4574e-19	1	1	0
COL22A1	169044	broad.mit.edu	37	8	139705901	139705901	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:139705901T>A	ENST00000303045.6	-	35	3188	c.2742A>T	c.(2740-2742)gcA>gcT	p.A914A	COL22A1_ENST00000435777.1_Silent_p.A914A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	914	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTTTCCAGCTGCTCCAGGAG	0.627000										HNSCC(7;0.00092)			6	7					0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13475983	13475983	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:13475983T>C	ENST00000288723.4	-	3	434	c.220A>G	c.(220-222)Ata>Gta	p.I74V	RAB28_ENST00000330852.5_Missense_Mutation_p.I74V|RAB28_ENST00000338176.4_Missense_Mutation_p.I74V	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	74					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TTGCCTCCTATTGTCTGCCCT	0.303000													36	89					0	0	1	0	0
CD79B	974	broad.mit.edu	37	17	62006812	62006812	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:62006812C>A	ENST00000006750.3	-	5	665	c.573G>T	c.(571-573)gaG>gaT	p.E191D	CD79B_ENST00000392795.3_Missense_Mutation_p.E192D|CD79B_ENST00000349817.2_Missense_Mutation_p.E87D	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	191	ITAM.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TGTGATCTTCCTCCATGCCAG	0.642000			"""Mis, O"""		DLBCL								20	51					5.03518e-11	6.65683e-11	1	1	0
PSMD1	5707	broad.mit.edu	37	2	231948445	231948445	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:231948445G>A	ENST00000308696.6	+	14	1852	c.1690G>A	c.(1690-1692)Gat>Aat	p.D564N	PSMD1_ENST00000373635.4_Missense_Mutation_p.D564N|PSMD1_ENST00000409643.1_Missense_Mutation_p.D564N	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	564					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GGAAGAGGCTGATGCTCTCAT	0.438000													23	30					0	0	1	0	0
GUCY2F	2986	broad.mit.edu	37	X	108696735	108696735	+	Splice_Site	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:108696735T>C	ENST00000218006.2	-	4	1677	c.1387_splice	c.e4+1	p.G462_splice		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	462					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATTCCTTACCTCCATGGCAGA	0.468000													11	3					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101828713	101828713	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:101828713A>T	ENST00000251127.6	-	15	1858	c.1777T>A	c.(1777-1779)Ttg>Atg	p.L593M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	593						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCAACAAACAAACTCAGGAGG	0.294000													16	30					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64606679	64606679	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:64606679C>T	ENST00000342711.5	-	7	701	c.702G>A	c.(700-702)acG>acA	p.T234T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	234	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TATAGTCCGGCGTCCCTACTG	0.622000													18	47					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99901706	99901706	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:99901706C>T	ENST00000301981.3	+	8	1101	c.861C>T	c.(859-861)agC>agT	p.S287S	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Silent_p.S218S|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Silent_p.S287S|LRRC28_ENST00000442993.2_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	287										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CCTACCACAGCTTGCTGAAAG	0.463000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	49					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135475	46135475	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:46135475C>A	ENST00000371383.2	-	3	785	c.525G>T	c.(523-525)acG>acT	p.T175T	ENPP5_ENST00000230565.3_Silent_p.T175T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	175						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GCTCTTTTGACGTAAACCATT	0.418000													64	49					3.7469e-33	6.6522e-33	1	1	0
SPOCK3	50859	broad.mit.edu	37	4	167658667	167658667	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:167658667T>A	ENST00000357154.3	-	11	1229	c.1092A>T	c.(1090-1092)agA>agT	p.R364S	SPOCK3_ENST00000535728.1_Missense_Mutation_p.R232S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R364S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.R268S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R321S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R361S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R361S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R313S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R364S|SPOCK3_ENST00000512681.1_Missense_Mutation_p.R266S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R364S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.R266S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R361S|SPOCK3_ENST00000541354.1_Missense_Mutation_p.R244S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	364	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CATTTCCATATCTGTCAACAC	0.403000													71	133					0	0	1	0	0
CECR6	27439	broad.mit.edu	37	22	17600658	17600658	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:17600658C>T	ENST00000331437.3	-	1	1485	c.1360G>A	c.(1360-1362)Gca>Aca	p.A454T	CECR6_ENST00000399875.1_Missense_Mutation_p.A99T	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	454	Poly-Ala.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCCCAGGATGCAGCCGCTGCG	0.726000													2	0					0	0	1	0	0
ADTRP	84830	broad.mit.edu	37	6	11714727	11714727	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:11714727C>G	ENST00000414691.3	-	6	1087	c.677G>C	c.(676-678)cGg>cCg	p.R226P	ADTRP_ENST00000514824.1_5'UTR|ADTRP_ENST00000229583.5_Missense_Mutation_p.R244P	NM_032744.3	NP_116133.1	Q96IZ2	CF105_HUMAN	androgen-dependent TFPI-regulating protein	226						integral to membrane											CCTCTTCTTCCGTGGCTGCCT	0.413000													6	91					0	0	1	0	0
AEBP1	165	broad.mit.edu	37	7	44150783	44150783	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:44150783T>C	ENST00000223357.3	+	14	1966	c.1661T>C	c.(1660-1662)gTg>gCg	p.V554A	AEBP1_ENST00000450684.2_Missense_Mutation_p.V129A	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	554	Interaction with MAPK1 and MAPK3 (By similarity).|Required for DNA-binding and interaction with NFKBIA (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGAATGAGGTGGTGGCCACC	0.617000													23	29					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165956928	165956928	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:165956928A>G	ENST00000360093.3	-	22	4341	c.3850T>C	c.(3850-3852)Ttg>Ctg	p.L1284L	SCN3A_ENST00000409101.3_Silent_p.L1235L|SCN3A_ENST00000283254.7_Silent_p.L1284L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1284						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)	AGGCTAACCAAAGAAACCTAC	0.383000													20	26					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167728935	167728935	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:167728935A>T	ENST00000230256.3	+	8	1544	c.1369A>T	c.(1369-1371)Atg>Ttg	p.M457L	UNC93A_ENST00000366829.2_Missense_Mutation_p.M415L	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	457						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAAACAAAAATGTGAGAGCA	0.522000													18	100					0	0	1	0	0
CHRNB2	1141	broad.mit.edu	37	1	154544390	154544390	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:154544390G>C	ENST00000368476.3	+	5	1355	c.1091G>C	c.(1090-1092)cGg>cCg	p.R364P		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	364					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R364L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	CTGCGCCTGCGGCGACGCCAG	0.697000													5	11					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111225079	111225079	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:111225079G>A	ENST00000393067.3	-	5	1192	c.678C>T	c.(676-678)gcC>gcT	p.A226A		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	226					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		ACGAGCTGGCGGCTCTTCTGG	0.592000			T	BCL6	NHL								7	41					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978769	10978769	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:10978769C>A	ENST00000240619.2	-	1	188	c.100G>T	c.(100-102)Gac>Tac	p.D34Y		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	34					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTGGCACAGTCAATGCAGTTT	0.358000													38	13					1.42033e-22	2.29165e-22	1	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140753885	140753885	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140753885C>A	ENST00000517434.1	+	1	235	c.235C>A	c.(235-237)Ccg>Acg	p.P79T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCTGAATCCGCGAAACGG	0.587000													59	12					3.76628e-20	5.86656e-20	1	1	0
ZNF285	26974	broad.mit.edu	37	19	44892226	44892226	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:44892226T>A	ENST00000330997.4	-	4	245	c.181A>T	c.(181-183)Aag>Tag	p.K61*	ZNF285_ENST00000591679.1_Nonsense_Mutation_p.K68*|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Nonsense_Mutation_p.K61*	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CTTAACCCCTTTGCCTGAAGA	0.408000													106	22					0	0	1	0	0
ECM2	1842	broad.mit.edu	37	9	95267882	95267882	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:95267882A>T	ENST00000344604.5	-	7	1546	c.1397T>A	c.(1396-1398)cTa>cAa	p.L466Q	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.L444Q	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	466					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						CAAGTAGGCTAGGCTCTTCAA	0.338000													19	73					0	0	1	0	0
COL25A1	84570	broad.mit.edu	37	4	109810405	109810405	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:109810405G>C	ENST00000399132.1	-	18	1477	c.947C>G	c.(946-948)cCt>cGt	p.P316R	COL25A1_ENST00000399127.1_Missense_Mutation_p.P312R|COL25A1_ENST00000399126.1_Missense_Mutation_p.P316R	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	316	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		AGATTCCCCAGGTTCTCCCTG	0.423000													36	56					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70613232	70613232	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:70613232A>C	ENST00000449580.1	+	21	3181	c.3130A>C	c.(3130-3132)Atg>Ctg	p.M1044L	TAF1_ENST00000423759.1_Missense_Mutation_p.M1065L|TAF1_ENST00000276072.3_Missense_Mutation_p.M1065L|TAF1_ENST00000373790.4_Missense_Mutation_p.M1044L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1044					G1 phase of mitotic cell cycle|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|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein 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)				AGAGGGGCCCATGAGTAAATT	0.483000													19	10					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32525452	32525452	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:32525452C>A	ENST00000286827.3	-	19	3643	c.3171_splice	c.e19-1	p.D1058_splice	TIAM1_ENST00000541036.1_Splice_Site_p.D998_splice	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1058	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGTTTAAATCCTAAGAATTG	0.318000													86	16					7.31121e-38	1.3185e-37	1	1	0
LMBRD2	92255	broad.mit.edu	37	5	36117897	36117897	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:36117897T>A	ENST00000296603.4	-	10	1704	c.1242A>T	c.(1240-1242)ttA>ttT	p.L414F		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	414						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAGAGGGATAAGACAGGAG	0.383000													23	35					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152651238	152651238	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:152651238C>A	ENST00000367255.5	-	78	15183	c.14582G>T	c.(14581-14583)tGg>tTg	p.W4861L	SYNE1_ENST00000265368.4_Missense_Mutation_p.W4861L|SYNE1_ENST00000448038.1_Missense_Mutation_p.W4790L|SYNE1_ENST00000341594.5_Missense_Mutation_p.W4608L|SYNE1_ENST00000423061.1_Missense_Mutation_p.W4790L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4861					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCCCCTTGCCAGGACTGGAT	0.483000										HNSCC(10;0.0054)			30	31					3.99451e-17	5.91219e-17	1	1	0
MXRA5	25878	broad.mit.edu	37	X	3235647	3235647	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:3235647G>A	ENST00000217939.6	-	6	6229	c.6075C>T	c.(6073-6075)tgC>tgT	p.C2025C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2025	Ig-like C2-type 4.					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)				TGCTGGCCACGCACTTATAGA	0.637000													5	5					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103354445	103354445	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:103354445G>T	ENST00000358392.2	-	60	4848	c.4531C>A	c.(4531-4533)Cca>Aca	p.P1511T	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1460T|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1499T|COL11A1_ENST00000512756.1_Missense_Mutation_p.P1383T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1499	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGACCAGGTGGACCTAAGGGA	0.383000													8	74					0.00448238	0.00471729	1	1	0
UBR1	197131	broad.mit.edu	37	15	43250218	43250218	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:43250218G>A	ENST00000290650.4	-	44	4906	c.4828C>T	c.(4828-4830)Cat>Tat	p.H1610Y	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1610					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TACCTGAAATGAGAAGCTTGA	0.328000													39	16					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6913762	6913762	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:6913762G>A	ENST00000312053.4	+	11	1258	c.1221G>A	c.(1219-1221)gaG>gaA	p.E407E	EMR1_ENST00000381404.4_Silent_p.E355E|EMR1_ENST00000450315.3_Silent_p.E230E|EMR1_ENST00000381407.5_Silent_p.E266E|EMR1_ENST00000250572.8_Silent_p.E407E	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	407	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCTTCCTGGAGAGTGTGGAAA	0.483000													10	124					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207838	21207838	+	Missense_Mutation	SNP	G	G	A	rs139594289	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:21207838G>A	ENST00000342679.4	+	8	918	c.669G>A	c.(667-669)atG>atA	p.M223I	MAP2K3_ENST00000361818.5_Missense_Mutation_p.M194I|MAP2K3_ENST00000316920.6_Missense_Mutation_p.M194I	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	223	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAAGACGATGGATGCCGGCT	0.597000													5	39					0	0	1	0	0
VCX	26609	broad.mit.edu	37	X	7811724	7811724	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:7811724C>A	ENST00000381059.3	+	3	507	c.288C>A	c.(286-288)agC>agA	p.S96R	VCX_ENST00000341408.4_Missense_Mutation_p.S96R	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	96	Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding			NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				AGCCAGTGAGCGAGGGGACCC	0.701000													32	24					3.62531e-18	5.48037e-18	1	1	0
TSC22D2	9819	broad.mit.edu	37	3	150129010	150129010	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:150129010G>T	ENST00000361875.2	+	1	2889	c.1873G>T	c.(1873-1875)Gca>Tca	p.A625S	TSC22D2_ENST00000361136.2_Missense_Mutation_p.A625S	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2	625							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			AGATTCCCTGGCAAACCCCCT	0.458000													37	50					4.62619e-21	7.30554e-21	1	1	0
UGT1A8	54576	broad.mit.edu	37	2	234527121	234527121	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:234527121C>A	ENST00000373450.4	+	1	831	c.768C>A	c.(766-768)gaC>gaA	p.D256E		NM_019076.4	NP_061949.3														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGCGAACAGACTTTGTTTTGG	0.433000													158	292					1.07764e-48	2.00925e-48	1	1	0
PGBD1	84547	broad.mit.edu	37	6	28269905	28269905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:28269905G>A	ENST00000405948.2	+	7	2694	c.2274G>A	c.(2272-2274)tgG>tgA	p.W758*	PGBD1_ENST00000259883.3_Nonsense_Mutation_p.W758*	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	758					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAAGAAATGGTACTCAATTT	0.403000													109	13					0	0	1	0	0
CEP128	145508	broad.mit.edu	37	14	81372385	81372385	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:81372385C>A	ENST00000555265.1	-	5	650	c.275G>T	c.(274-276)aGt>aTt	p.S92I	CEP128_ENST00000327841.2_Missense_Mutation_p.S32I|CEP128_ENST00000216517.6_Missense_Mutation_p.S92I|CEP128_ENST00000281129.3_Missense_Mutation_p.S92I			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	92						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TAAACGTTGACTCCGGAGTTG	0.363000													35	7					4.65686e-17	6.88567e-17	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	70800712	70800712	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:70800712C>A	ENST00000333538.5	+	2	1049	c.415C>A	c.(415-417)Ccc>Acc	p.P139T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	139						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGATTATCGTCCCACCAAGTA	0.448000													19	16					1.67942e-08	2.10245e-08	1	1	0
PTPN13	5783	broad.mit.edu	37	4	87680213	87680213	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:87680213A>T	ENST00000436978.1	+	23	4020	c.3540A>T	c.(3538-3540)gaA>gaT	p.E1180D	PTPN13_ENST00000316707.6_Missense_Mutation_p.E989D|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1180D|PTPN13_ENST00000427191.2_Missense_Mutation_p.E1161D|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1180D	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1180						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AGCCAAAAGAAAAGATATCCA	0.368000													9	24					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569754	61569754	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:61569754C>A	ENST00000457692.1	+	8	1128	c.795C>A	c.(793-795)ttC>ttA	p.F265L	SERPINB2_ENST00000299502.4_Missense_Mutation_p.F265L|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	265					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTAGCATGTTCTTGTTGCTTC	0.418000													38	32					4.14481e-20	6.44941e-20	1	1	0
PGBD5	79605	broad.mit.edu	37	1	230472903	230472903	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:230472903C>A	ENST00000321327.2	-	6	1115	c.1116G>T	c.(1114-1116)acG>acT	p.T372T	PGBD5_ENST00000391860.1_Silent_p.T227T|PGBD5_ENST00000525115.1_Silent_p.T273T			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	273						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGCTGGGCCCCGTGAAAATGA	0.582000													11	37					2.80697e-09	3.56815e-09	1	1	0
PABPC5	140886	broad.mit.edu	37	X	90690697	90690697	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:90690697G>T	ENST00000312600.3	+	2	335	c.121G>T	c.(121-123)Gct>Tct	p.A41S	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	41	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GTTCAGGCCTGCTGGCCCTCT	0.567000													26	3					4.26978e-12	5.77333e-12	1	1	0
NDUFA12	55967	broad.mit.edu	37	12	95365305	95365305	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:95365305C>A	ENST00000327772.2	-	4	438	c.349G>T	c.(349-351)Gtg>Ttg	p.V117L	NDUFA12_ENST00000547157.1_Intron|NDUFA12_ENST00000547986.1_3'UTR|NDUFA12_ENST00000550187.1_5'UTR	NM_018838.4	NP_061326.1	Q9UI09	NDUAC_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12	117					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	GTGCCAGTCACGTTGAATTTA	0.413000													34	45					6.00712e-18	9.04416e-18	1	1	0
ZNF484	83744	broad.mit.edu	37	9	95610478	95610478	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:95610478T>A	ENST00000395505.2	-	3	575	c.483A>T	c.(481-483)gcA>gcT	p.A161A	ZNF484_ENST00000332591.6_Silent_p.A161A|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Silent_p.A199A|ZNF484_ENST00000375495.3_Silent_p.A197A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AATTTTCTGTTGCATTGTTTC	0.358000													46	55					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108117	168108117	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:168108117G>T	ENST00000409195.1	+	9	10304	c.10215G>T	c.(10213-10215)caG>caT	p.Q3405H	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q3183H|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q3405H|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3230					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTTAAGCAGCCCAGGATCT	0.403000													54	84					3.10996e-30	5.41782e-30	1	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161022311	161022311	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:161022311T>A	ENST00000368013.3	-	8	1179	c.859A>T	c.(859-861)Agg>Tgg	p.R287W	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.R287W|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.R110W	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	287					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCCACTTCCTGACCTTCAAA	0.552000													89	154					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637184	60637184	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:60637184C>A	ENST00000278853.5	+	3	493	c.493C>A	c.(493-495)Ctc>Atc	p.L165I		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	165					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTTTCCTTCCTCCCCACCTC	0.607000													16	17					3.52763e-06	4.08897e-06	1	1	0
DST	667	broad.mit.edu	37	6	56510683	56510683	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:56510683G>A	ENST00000370754.5	-	14	1659	c.1660C>T	c.(1660-1662)Ctt>Ttt	p.L554F	DST_ENST00000421834.2_Missense_Mutation_p.L376F|DST_ENST00000370769.4_Missense_Mutation_p.L376F|DST_ENST00000370788.2_Missense_Mutation_p.L376F|DST_ENST00000361203.3_Missense_Mutation_p.L376F|DST_ENST00000312431.6_Missense_Mutation_p.L376F			Q03001	DYST_HUMAN	dystonin	376					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGGACGAAGGGCCTTCTCT	0.443000													32	67					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95596458	95596458	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:95596458G>A	ENST00000526495.1	-	7	801	c.510C>T	c.(508-510)aaC>aaT	p.N170N	DICER1_ENST00000541352.1_Silent_p.N170N|DICER1_ENST00000527414.1_Silent_p.N170N|DICER1_ENST00000343455.3_Silent_p.N170N|DICER1_ENST00000393063.1_Silent_p.N170N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	170	Helicase ATP-binding.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACCAAAAGGTTAATGTCTG	0.338000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				7	35					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29983640	29983640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:29983640C>T	ENST00000426154.1	-	4	673	c.497G>A	c.(496-498)tGg>tAg	p.W166*	SCRN1_ENST00000416113.2_Nonsense_Mutation_p.W57*|SCRN1_ENST00000242059.5_Nonsense_Mutation_p.W166*|SCRN1_ENST00000409497.1_Nonsense_Mutation_p.W166*	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	166					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CTCGAGCACCCAGGCTTCATC	0.502000													60	85					0	0	1	0	0
ACTL6A	86	broad.mit.edu	37	3	179287990	179287990	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:179287990G>A	ENST00000429709.2	+	3	451	c.238G>A	c.(238-240)Gag>Aag	p.E80K	ACTL6A_ENST00000450518.2_Missense_Mutation_p.E38K|ACTL6A_ENST00000392662.1_Missense_Mutation_p.E38K	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	80					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			TGTTCCGAGGGAGAATATGGA	0.408000													43	44					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179604989	179604989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:179604989C>A	ENST00000444136.1	+	9	1737	c.1487C>A	c.(1486-1488)tCa>tAa	p.S496*	TDRD5_ENST00000367614.1_Nonsense_Mutation_p.S496*|TDRD5_ENST00000294848.8_Nonsense_Mutation_p.S496*	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	496					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AGGGATTCGTCAGAGTTACTC	0.413000													32	50					8.16721e-17	1.20641e-16	1	1	0
A4GNT	51146	broad.mit.edu	37	3	137849718	137849718	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:137849718G>T	ENST00000236709.3	-	2	582	c.381C>A	c.(379-381)gaC>gaA	p.D127E		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	127					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						ACAATGGTGTGTCTTCAAGCA	0.418000													25	49					9.90768e-06	1.13602e-05	1	1	0
NDST4	64579	broad.mit.edu	37	4	115997890	115997890	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:115997890G>T	ENST00000264363.2	-	2	981	c.303C>A	c.(301-303)tcC>tcA	p.S101S		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	101	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GAAATCGGCTGGACTCCAAAA	0.408000													9	72					1.12685e-05	1.29006e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179575951	179575951	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179575951C>A	ENST00000589042.1	-	97	28236	c.28012G>T	c.(28012-28014)Ggc>Tgc	p.G9338C	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G8094C|TTN_ENST00000591111.1_Missense_Mutation_p.G9021C|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9021	Ig-like 76.						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)			AATGGCTTGCCGTCTTTATAC	0.413000													73	120					5.02462e-34	8.94202e-34	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105413676	105413676	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:105413676T>G	ENST00000333244.5	-	7	8231	c.8112A>C	c.(8110-8112)caA>caC	p.Q2704H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2704						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGACCTCCAGTTGGGCAGAGG	0.617000													82	357					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69058478	69058478	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:69058478G>T	ENST00000288368.4	+	34	4399	c.4122G>T	c.(4120-4122)cgG>cgT	p.R1374R		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1374					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						AAGGAAGTCGGCAAGCTCTGA	0.323000													16	41					2.48551e-13	3.44539e-13	1	1	0
ITGA2B	3674	broad.mit.edu	37	17	42455868	42455868	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:42455868G>A	ENST00000262407.5	-	20	1987	c.1956C>T	c.(1954-1956)tcC>tcT	p.S652S	ITGA2B_ENST00000353281.4_Silent_p.S652S	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	652					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CTAGGAGCGGGGAGCCCGTCC	0.627000													6	13					0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34839128	34839128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:34839128G>T	ENST00000588597.1	-	11	1322	c.1313C>A	c.(1312-1314)tCg>tAg	p.S438*	CELF4_ENST00000412753.1_Intron|CELF4_ENST00000361795.5_Intron|CELF4_ENST00000591287.1_Intron|CELF4_ENST00000420428.2_Intron|CELF4_ENST00000591282.1_Intron|CELF4_ENST00000601019.1_Intron|CELF4_ENST00000334919.5_Intron|CELF4_ENST00000603232.1_Intron			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	83	RRM 3.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AAACACTTTCGAGGAGATGAC	0.522000													16	22					3.52763e-06	4.08897e-06	1	1	0
STIL	6491	broad.mit.edu	37	1	47746795	47746795	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:47746795C>G	ENST00000360380.3	-	13	1698	c.1335G>C	c.(1333-1335)ttG>ttC	p.L445F	STIL_ENST00000371877.3_Missense_Mutation_p.L445F|STIL_ENST00000337817.5_Missense_Mutation_p.L445F|STIL_ENST00000243182.6_Missense_Mutation_p.L445F|STIL_ENST00000396221.2_Missense_Mutation_p.L445F			Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	445					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)				TCACCATTTCCAATGGAGTAG	0.388000													12	97					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539562	56539562	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:56539562T>C	ENST00000390649.3	+	7	1963	c.1963T>C	c.(1963-1965)Tgt>Cgt	p.C655R		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	655						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGCTGGGCTGTCCCGTTCC	0.582000													70	16					0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89273112	89273112	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:89273112A>G	ENST00000370521.3	+	13	2279	c.1920A>G	c.(1918-1920)gaA>gaG	p.E640E	PKN2_ENST00000370505.3_Silent_p.E483E|PKN2_ENST00000370513.5_Silent_p.E592E|PKN2_ENST00000544045.1_Silent_p.E314E	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	640					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GTATTCAAGAACTTGAGGACA	0.318000													10	93					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143346	56143346	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:56143346G>T	ENST00000302270.1	+	1	247	c.247G>T	c.(247-249)Ggg>Tgg	p.G83W		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CAAAATGCTTGGGAATTTCTT	0.398000													53	116					1.35964e-18	2.06587e-18	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19195814	19195814	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:19195814C>A	ENST00000263200.10	-	22	3522	c.3450G>T	c.(3448-3450)tgG>tgT	p.W1150C	CLTCL1_ENST00000353891.5_Missense_Mutation_p.W1150C|CLTCL1_ENST00000427926.1_Missense_Mutation_p.W1150C	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1150	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTAGATCCTCCCAGTTGTCTA	0.413000			T	?	ALCL								45	61					8.04919e-23	1.30012e-22	1	1	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803549	142803549	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:142803549G>T	ENST00000423385.1	-	0	1416																											AATTCCTGATGAATCTGCAGT	0.274000													9	92					0.0581538	0.0596799	1	1	0
PTCH2	8643	broad.mit.edu	37	1	45295398	45295398	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:45295398C>A	ENST00000447098.2	-	8	982	c.971G>T	c.(970-972)aGt>aTt	p.S324I	PTCH2_ENST00000372192.3_Missense_Mutation_p.S324I	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	324					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGCGGGGACTCATCAGCAA	0.612000									Basal Cell Nevus syndrome				38	66					4.11147e-13	5.68869e-13	1	1	0
TMEM158	25907	broad.mit.edu	37	3	45266859	45266859	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:45266859C>T	ENST00000503771.1	-	1	911	c.661G>A	c.(661-663)Gag>Aag	p.E221K		NM_015444.2	NP_056259.2	Q8WZ71	TM158_HUMAN	transmembrane protein 158 (gene/pseudogene)	221						integral to membrane									BRCA - Breast invasive adenocarcinoma(193;0.00839)|KIRC - Kidney renal clear cell carcinoma(197;0.0461)|Kidney(197;0.0576)		AGCGTGGACTCAATGGGCTTA	0.662000													3	3					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325708	152325708	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152325708T>A	ENST00000388718.5	-	3	4626	c.4554A>T	c.(4552-4554)tcA>tcT	p.S1518S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1518							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTGTCCTGAATGTGTGT	0.498000													224	390					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509928	24509928	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:24509928G>T	ENST00000264463.4	-	7	1510	c.1002_splice	c.e7-1	p.P335_splice		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	335	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAGTCGAGTGGCTGTATAAAA	0.373000										HNSCC(23;0.051)			34	33					6.70999e-13	9.21538e-13	1	1	0
CROCC	9696	broad.mit.edu	37	1	17298933	17298933	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:17298933G>T	ENST00000375541.5	+	37	6115	c.6046G>T	c.(6046-6048)Gag>Tag	p.E2016*		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	2016					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CGGCCCCCCAGAGAAATGAGC	0.632000													16	8					2.32078e-09	2.96279e-09	1	1	0
ECT2	1894	broad.mit.edu	37	3	172482080	172482080	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:172482080G>T	ENST00000417960.1	+	12	1462	c.985G>T	c.(985-987)Gag>Tag	p.E329*	ECT2_ENST00000441497.2_Nonsense_Mutation_p.E330*|ECT2_ENST00000540509.1_Nonsense_Mutation_p.E361*|ECT2_ENST00000392692.3_Nonsense_Mutation_p.E361*|ECT2_ENST00000232458.5_Nonsense_Mutation_p.E330*|ECT2_ENST00000427830.1_Nonsense_Mutation_p.E330*	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	330					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAATACTCCTGAGCTCAAGAA	0.383000													28	33					9.39395e-14	1.31197e-13	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21611514	21611514	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:21611514G>A	ENST00000328843.6	+	8	1547	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E506K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	506	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACAAGTCCACGAGATGAGTGA	0.363000									Kartagener syndrome				27	17					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165514089	165514089	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:165514089T>A	ENST00000294818.1	+	1	846	c.556T>A	c.(556-558)Tgg>Agg	p.W186R	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	186	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGGAAACCCCTGGAAGTGCAA	0.527000													50	110					0	0	1	0	0
TRAV16	28667	broad.mit.edu	37	14	22459084	22459084	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:22459084C>A	ENST00000390444.1	+	0	236																											AAAGGCTTCACTGCTGACCTT	0.463000													16	6					4.14922e-12	5.62054e-12	1	1	0
PARD3B	117583	broad.mit.edu	37	2	206166581	206166581	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:206166581G>A	ENST00000462231.1	+	19	2918	c.2758G>A	c.(2758-2760)Gca>Aca	p.A920T	PARD3B_ENST00000406610.2_Intron|PARD3B_ENST00000351153.1_Intron|PARD3B_ENST00000358768.2_Intron|PARD3B_ENST00000349953.3_Intron			Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	0					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTCTGCAGAGGCAGAGGAGCT	0.473000													9	16					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8123161	8123161	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:8123161G>T	ENST00000305253.4	+	13	1922	c.1681G>T	c.(1681-1683)Gag>Tag	p.E561*	TUB_ENST00000534099.1_Nonsense_Mutation_p.E512*|TUB_ENST00000299506.2_Nonsense_Mutation_p.E506*	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	506					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GCTGGCGTGCGAGTAGAGGCC	0.592000													10	21					7.48243e-07	8.93083e-07	1	1	0
IL19	29949	broad.mit.edu	37	1	207010117	207010117	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:207010117T>C	ENST00000270218.6	+	3	1049	c.110T>C	c.(109-111)aTa>aCa	p.I37T	IL19_ENST00000340758.2_Missense_Mutation_p.I75T	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19	37					apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			ATGCACCATATAGAAGAGAGT	0.453000													69	56					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25463961	25463961	+	RNA	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:25463961T>G	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						TGGCCCAACCTGTCTCTGCAC	0.587000													42	11					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132039849	132039849	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:132039849G>T	ENST00000414305.1	+	17	1778	c.1450G>T	c.(1450-1452)Ggt>Tgt	p.G484C	ENPP3_ENST00000358229.5_Missense_Mutation_p.G484C|ENPP3_ENST00000357639.3_Missense_Mutation_p.G484C			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	484	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AGGCAACCATGGTTATAACAA	0.313000													20	44					5.35267e-07	6.43012e-07	1	1	0
CDH20	28316	broad.mit.edu	37	18	59203766	59203766	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:59203766T>A	ENST00000262717.4	+	8	1710	c.1312T>A	c.(1312-1314)Tat>Aat	p.Y438N	CDH20_ENST00000538374.1_Missense_Mutation_p.Y438N|CDH20_ENST00000536675.2_Missense_Mutation_p.Y438N			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	438	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AAGATTTTTCTATGTTGACAT	0.408000													25	99					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40036947	40036947	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:40036947G>T	ENST00000336649.4	+	8	816	c.816G>T	c.(814-816)tcG>tcT	p.S272S	CACNA1I_ENST00000404898.1_Silent_p.S272S|CACNA1I_ENST00000407673.1_Silent_p.S272S|CACNA1I_ENST00000400164.3_Silent_p.S272S|CACNA1I_ENST00000402142.3_Silent_p.S272S|CACNA1I_ENST00000401624.1_Silent_p.S272S			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	272					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GCTCCCTGTCGGGCGACAATG	0.612000													20	7					2.94398e-08	3.65172e-08	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	129019848	129019848	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:129019848C>T	ENST00000274487.4	+	18	2827	c.2682C>T	c.(2680-2682)caC>caT	p.H894H	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	894	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ATGGTCTTCACTATGAATACA	0.443000													43	18					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55105733	55105733	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:55105733G>T	ENST00000453777.1	+	2	194	c.24G>T	c.(22-24)ctG>ctT	p.L8L	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L8L|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	8					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)		TCACAGTCCTGATCTGTCTCA	0.592000													15	93					1.5739e-10	2.06063e-10	1	1	0
XPNPEP2	7512	broad.mit.edu	37	X	128876096	128876096	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:128876096G>A	ENST00000371106.3	+	2	254	c.62G>A	c.(61-63)gGc>gAc	p.G21D	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G21D	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	21					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						TGTGCCTGGGGCCACACAAAG	0.637000													22	6					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405824	106405824	+	RNA	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:106405824A>C	ENST00000390593.2	-	0	201																											CACTGTTGCTAGAGACACTGT	0.557000													29	96					0	0	1	0	0
HOXD10	3236	broad.mit.edu	37	2	176981673	176981673	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:176981673C>T	ENST00000249501.4	+	1	367	c.112C>T	c.(112-114)Cca>Tca	p.P38S	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	38						nucleus	sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTACATGCCACCACCTAGCGC	0.483000													51	78					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104831844	104831844	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:104831844C>T	ENST00000507740.1	+	1	345	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L	RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Silent_p.L37L|RIMS2_ENST00000406091.3_Intron	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1026	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGACAAACACTGAACAATGC	0.323000										HNSCC(12;0.0054)			15	38					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4930801	4930801	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:4930801G>T	ENST00000592666.1	+	0	1058							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		AGGGTGACGCGGAAGGCCCCC	0.617000													19	9					6.94344e-10	8.97214e-10	1	1	0
GPR158	57512	broad.mit.edu	37	10	25701354	25701354	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:25701354G>T	ENST00000376351.3	+	4	1646	c.1287G>T	c.(1285-1287)ctG>ctT	p.L429L		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	429						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TGTGTATGCTGCTCGACTTCG	0.502000													81	91					7.427e-35	1.32491e-34	1	1	0
MTHFD1	4522	broad.mit.edu	37	14	64855041	64855041	+	Missense_Mutation	SNP	T	T	C	rs1076991	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:64855041T>C	ENST00000545908.1	+	1	293	c.64T>C	c.(64-66)Tgg>Cgg	p.W22R	MTHFD1_ENST00000555252.1_5'UTR|MTHFD1_ENST00000555709.1_5'UTR|MTHFD1_ENST00000216605.7_Missense_Mutation_p.W22R			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	0	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	TGTGATCCCCTGGCCAGTCCC	0.622000													4	29					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187600	57187600	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:57187600G>T	ENST00000331162.4	-	5	1792	c.1522C>A	c.(1522-1524)Ctt>Att	p.L508I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TGTTTAGCAAGACTTGAATGC	0.358000													67	32					4.10029e-35	7.32335e-35	1	1	0
CACNA1B	774	broad.mit.edu	37	9	141006903	141006903	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:141006903G>T	ENST00000277549.5	+	40	5633	c.3064G>T	c.(3064-3066)Gtg>Ttg	p.V1022L	CACNA1B_ENST00000371363.1_Missense_Mutation_p.V1826L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.V1829L|CACNA1B_ENST00000277551.2_Missense_Mutation_p.V1828L|CACNA1B_ENST00000371357.1_Missense_Mutation_p.V1827L|CACNA1B_ENST00000371372.1_Missense_Mutation_p.V1828L|CACNA1B_ENST00000371365.2_3'UTR			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1828					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATTTCCGTTGTGTGGGCCAA	0.547000													6	17					5.9392e-07	7.11173e-07	1	1	0
NEUROD2	4761	broad.mit.edu	37	17	37762571	37762571	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:37762571G>T	ENST00000302584.4	-	2	502	c.282C>A	c.(280-282)gaC>gaA	p.D94E		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	94					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CCTCCGCCTCGTCCAGTCCTt	0.667000													10	6					0.0809354	0.0828305	1	1	0
IPO4	79711	broad.mit.edu	37	14	24652821	24652821	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:24652821C>T	ENST00000354464.6	-	20	2214	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	680					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity	p.V680M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ATCTCCCCCACGGCAGCACAG	0.577000													31	34					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51491819	51491819	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:51491819T>G	ENST00000371117.3	-	66	12036	c.11761A>C	c.(11761-11763)Aaa>Caa	p.K3921Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3921					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTCTTCTTTTTTGGGCCCT	0.473000													25	122					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10599903	10599903	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:10599903C>T	ENST00000171111.5	-	5	2220	c.1673G>A	c.(1672-1674)gGg>gAg	p.G558E	KEAP1_ENST00000393623.2_Missense_Mutation_p.G558E	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	558					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACAGTGATCCCCAGGGCACT	0.572000													13	2					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304458	3304458	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:3304458G>T	ENST00000219596.1	-	2	649	c.610C>A	c.(610-612)Cgc>Agc	p.R204S	MEFV_ENST00000339854.4_Intron|MEFV_ENST00000541159.1_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	204					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R204C(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GCGTTTCTGCGCAGCCGGACC	0.766000													5	16					0.00116845	0.00125275	1	1	0
SSH3	54961	broad.mit.edu	37	11	67074433	67074433	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:67074433G>T	ENST00000308127.4	+	4	642	c.464_splice	c.e4+1	p.S155_splice	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000376757.5_Splice_Site_p.S155_splice|SSH3_ENST00000308298.7_Splice_Site_p.S155_splice	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	155					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGACAGCAGGTTCGAGCAG	0.627000													12	22					2.80697e-09	3.56815e-09	1	1	0
ERCC1	2067	broad.mit.edu	37	19	45912960	45912960	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:45912960C>G	ENST00000591636.1	-	6	752	c.626G>C	c.(625-627)tGc>tCc	p.C209S	ERCC1_ENST00000340192.7_Silent_p.L265L|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000423698.2_Silent_p.L217L|ERCC1_ENST00000589165.1_Silent_p.L289L|CD3EAP_ENST00000309424.3_3'UTR|ERCC1_ENST00000300853.3_Silent_p.L289L|CD3EAP_ENST00000589804.1_3'UTR			P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	0					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AGGGCTCGTGCAGGACATCAA	0.527000								Nucleotide excision repair (NER)					8	5					0	0	1	0	0
NHLRC1	378884	broad.mit.edu	37	6	18122755	18122755	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:18122755A>C	ENST00000340650.3	-	1	96	c.83T>G	c.(82-84)gTg>gGg	p.V28G		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	28					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CTCAAAGCACACCTTGCACTC	0.706000													25	7					0	0	1	0	0
PALM2-AKAP2	445815	broad.mit.edu	37	9	112898735	112898735	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:112898735A>T	ENST00000374530.3	+	8	1091	c.911A>T	c.(910-912)tAc>tTc	p.Y304F	AKAP2_ENST00000555236.1_Missense_Mutation_p.Y304F|AKAP2_ENST00000510514.5_Missense_Mutation_p.Y304F|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y304F|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y162F|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y162F|AKAP2_ENST00000259318.7_Missense_Mutation_p.Y73F	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		73							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GATGGAACGTACAATGGAACA	0.557000													40	49					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139820048	139820048	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:139820048A>T	ENST00000303045.6	-	10	1903	c.1457T>A	c.(1456-1458)aTg>aAg	p.M486K	COL22A1_ENST00000435777.1_Missense_Mutation_p.M486K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	486	Collagen-like 1.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGCAACTCCCATTTCACCCTA	0.448000										HNSCC(7;0.00092)			25	142					0	0	1	0	0
ZIC5	85416	broad.mit.edu	37	13	100617791	100617791	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:100617791C>A	ENST00000267294.4	-	2	2065	c.1832G>T	c.(1831-1833)aGc>aTc	p.S611I		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	611					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGACAGAGTGCTGGAGTGACT	0.642000													14	73					9.05144e-12	1.21613e-11	1	1	0
DPY19L3	147991	broad.mit.edu	37	19	32949337	32949337	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:32949337C>T	ENST00000342179.5	+	12	1459	c.1244C>T	c.(1243-1245)aCt>aTt	p.T415I	DPY19L3_ENST00000392250.2_Missense_Mutation_p.T415I|DPY19L3_ENST00000586987.1_Missense_Mutation_p.T415I	NM_207325.2	NP_997208.2	Q6ZPD9	D19L3_HUMAN	dpy-19-like 3 (C. elegans)	415						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTTTCAGATACTCTGCTTTTT	0.378000													93	163					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67696182	67696182	+	Silent	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:67696182A>C	ENST00000545606.1	+	8	1517	c.1080A>C	c.(1078-1080)gtA>gtC	p.V360V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	360					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGGATGCTGTAGTTAGCACAA	0.423000													65	141					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34086018	34086018	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:34086018G>T	ENST00000297161.2	+	8	1050		c.e8+1		BMPER_ENST00000494786.1_Splice_Site|BMPER_ENST00000426693.1_Splice_Site	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AAATGTTTGGGTGAGTTACTA	0.458000													63	58					1.87469e-40	3.41815e-40	1	1	0
EPG5	57724	broad.mit.edu	37	18	43535270	43535270	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:43535270T>C	ENST00000282041.5	-	2	132	c.98A>G	c.(97-99)gAg>gGg	p.E33G		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	33					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TTCACTGGACTCTTCCCTCTG	0.393000													4	40					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241700757	241700757	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:241700757C>T	ENST00000498729.2	-	24	2400	c.2154G>A	c.(2152-2154)tgG>tgA	p.W718*	KIF1A_ENST00000320389.7_Nonsense_Mutation_p.W709*	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	709					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)		TCCGGAAGGCCCAGAGCGCCA	0.637000													22	28					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103471677	103471677	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:103471677C>A	ENST00000358392.2	-	17	2091	c.1773_splice	c.e17-1	p.G592_splice	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.G541_splice|COL11A1_ENST00000370096.3_Splice_Site_p.G580_splice|COL11A1_ENST00000512756.1_Splice_Site_p.G464_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	580	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCTGGACGACCCTAATAATGC	0.363000													13	43					0.00185496	0.0019788	1	1	0
RBBP8	5932	broad.mit.edu	37	18	20602224	20602224	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:20602224A>T	ENST00000399722.2	+	18	2938	c.2587A>T	c.(2587-2589)Atg>Ttg	p.M863L	RBBP8_ENST00000327155.5_Missense_Mutation_p.M863L|RBBP8_ENST00000399725.2_Silent_p.V830V|RBBP8_ENST00000581687.1_Missense_Mutation_p.M41L|RBBP8_ENST00000360790.5_Missense_Mutation_p.M868L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	863					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCAGACTTGTATGGAAAGAGG	0.408000								Homologous recombination					160	35					0	0	1	0	0
MARK4	57787	broad.mit.edu	37	19	45774827	45774827	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:45774827G>T	ENST00000300843.4	+	8	944	c.647G>T	c.(646-648)tGc>tTc	p.C216F	MARK4_ENST00000262891.4_Missense_Mutation_p.C216F	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	216	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GACACGTTCTGCGGGAGCCCC	0.597000													7	101					2.7689e-08	3.45183e-08	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10031980	10031980	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:10031980G>A	ENST00000396573.2	-	4	1152	c.843C>T	c.(841-843)taC>taT	p.Y281Y	GRIN2A_ENST00000535259.1_Silent_p.Y124Y|GRIN2A_ENST00000404927.2_Silent_p.Y281Y|GRIN2A_ENST00000330684.3_Silent_p.Y281Y|GRIN2A_ENST00000562109.1_Silent_p.Y281Y|GRIN2A_ENST00000396575.2_Silent_p.Y281Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	281					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCAGTCATCGTAGGAGACAG	0.537000													20	32					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	122003456	122003456	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:122003456C>A	ENST00000498619.1	+	7	3123	c.2685C>A	c.(2683-2685)gcC>gcA	p.A895A	CASR_ENST00000490131.1_Silent_p.A885A|CASR_ENST00000296154.5_Silent_p.A885A	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	885	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGTGGCTGCCCGGGCCACGC	0.612000													26	28					3.6726e-16	5.36626e-16	1	1	0
NDST3	9348	broad.mit.edu	37	4	119161771	119161771	+	Silent	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:119161771C>G	ENST00000296499.5	+	11	2614	c.2211C>G	c.(2209-2211)gcC>gcG	p.A737A		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	737	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						AGCTCAGAGCCTTGCAGAAGA	0.512000													10	34					0	0	1	0	0
LLGL1	3996	broad.mit.edu	37	17	18141033	18141033	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:18141033C>G	ENST00000316843.4	+	14	1946	c.1850C>G	c.(1849-1851)aCc>aGc	p.T617S		NM_004140.3	NP_004131.3	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	617					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTTTGGCACCAGTCATGGC	0.657000													7	23					0	0	1	0	0
TPSD1	23430	broad.mit.edu	37	16	1306324	1306324	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:1306324G>T	ENST00000211076.3	+	1	191	c.43G>T	c.(43-45)Gcg>Tcg	p.A15S	TPSD1_ENST00000397534.2_Missense_Mutation_p.A8S	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	15					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCTGCTGCTGGCGCTGCCCGT	0.697000													27	45					1.55811e-20	2.44493e-20	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39911932	39911932	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:39911932G>T	ENST00000425673.1	+	14	1734	c.1409G>T	c.(1408-1410)gGa>gTa	p.G470V	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.G499V|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.G499V|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.G499V|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.G440V			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	499					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTAAGCCTGGATTCAAGGTA	0.468000													35	22					9.93527e-08	1.21713e-07	1	1	0
TOX	9760	broad.mit.edu	37	8	59728124	59728124	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:59728124G>C	ENST00000361421.1	-	7	1385	c.1165C>G	c.(1165-1167)Cat>Gat	p.H389D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	389						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				AGACTAGGATGCATGGCAGTT	0.567000													8	35					0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60297839	60297839	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:60297839G>C	ENST00000371208.3	+	4	484	c.227G>C	c.(226-228)aGt>aCt	p.S76T	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.S34T	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	76	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CATTAGGCCAGTAATGTAAAG	0.284000													31	43					0	0	1	0	0
CST5	1473	broad.mit.edu	37	20	23860156	23860156	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:23860156C>A	ENST00000304710.4	-	1	231	c.158G>T	c.(157-159)aGc>aTc	p.S53I		NM_001900.4	NP_001891.2	P28325	CYTD_HUMAN	cystatin D	53						extracellular region	cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11						GTTGTACTCGCTGATGGCAAA	0.582000													63	130					1.80625e-27	3.07104e-27	1	1	0
ARSB	411	broad.mit.edu	37	5	78251295	78251295	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:78251295C>A	ENST00000264914.4	-	4	1257	c.721G>T	c.(721-723)Gtg>Ttg	p.V241L	ARSB_ENST00000565165.1_Missense_Mutation_p.V241L|ARSB_ENST00000396151.3_Missense_Mutation_p.V241L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	241					lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		GGCTCATGCACAGACTGGAGA	0.428000													29	41					3.65163e-15	5.22264e-15	1	1	0
ZNF776	284309	broad.mit.edu	37	19	58265420	58265420	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:58265420G>T	ENST00000317178.5	+	3	1185	c.922G>T	c.(922-924)Gtt>Ttt	p.V308F	ZNF776_ENST00000489376.1_3'UTR	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GCACAGTCTTGTTGACCATCA	0.448000													103	24					8.13309e-56	1.52984e-55	1	1	0
MET	4233	broad.mit.edu	37	7	116340087	116340087	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:116340087C>A	ENST00000397752.3	+	2	1149	c.949C>A	c.(949-951)Ctt>Att	p.L317I	MET_ENST00000436117.2_Missense_Mutation_p.L317I|MET_ENST00000318493.6_Missense_Mutation_p.L317I	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	317	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTTTAATATACTTCAGGCTGC	0.443000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				18	69					2.35188e-11	3.13725e-11	1	1	0
ASCC3	10973	broad.mit.edu	37	6	100964120	100964120	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:100964120C>A	ENST00000369162.2	-	39	6355	c.6011G>T	c.(6010-6012)gGa>gTa	p.G2004V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2004					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTCTTTCCCTCCACAGGCATG	0.468000													12	56					2.39556e-15	3.43943e-15	1	1	0
USP35	57558	broad.mit.edu	37	11	77907333	77907333	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:77907333G>T	ENST00000529308.1	+	2	303	c.42G>T	c.(40-42)ccG>ccT	p.P14P	USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	14					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CGTCATACCCGGTCAGCGTGA	0.711000													17	25					3.41278e-10	4.4525e-10	1	1	0
SCMH1	22955	broad.mit.edu	37	1	41618289	41618289	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:41618289T>A	ENST00000402904.2	-	4	426	c.58A>T	c.(58-60)Atc>Ttc	p.I20F	SCMH1_ENST00000337495.5_Intron|SCMH1_ENST00000361191.5_Intron|SCMH1_ENST00000372595.1_Intron|SCMH1_ENST00000326197.7_Missense_Mutation_p.I20F|SCMH1_ENST00000397171.2_Intron|SCMH1_ENST00000372596.1_Intron|SCMH1_ENST00000372597.1_Intron|SCMH1_ENST00000361705.3_Intron|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397174.2_5'UTR	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	20					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				GACCCCATGATGGAGCAGGGA	0.443000													18	57					0	0	1	0	0
OR52B4	143496	broad.mit.edu	37	11	4389327	4389327	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:4389327T>G	ENST00000408920.2	-	1	289	c.199A>C	c.(199-201)Atg>Ctg	p.M67L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCAGCCAGCATGCAGAGGAAG	0.532000													11	26					0	0	1	0	0
BEST3	144453	broad.mit.edu	37	12	70066688	70066688	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:70066688A>G	ENST00000330891.5	-	8	1151	c.925T>C	c.(925-927)Tgg>Cgg	p.W309R	BEST3_ENST00000488961.1_Missense_Mutation_p.W96R|BEST3_ENST00000476098.1_Missense_Mutation_p.W96R|BEST3_ENST00000331471.4_Missense_Mutation_p.W309R|BEST3_ENST00000553096.1_Missense_Mutation_p.W203R	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	309						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TCAATGCACCAGTTAGTTTCA	0.323000													22	22					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50280578	50280578	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:50280578A>C	ENST00000404971.1	-	22	5418	c.4079T>G	c.(4078-4080)aTa>aGa	p.I1360R	NRXN1_ENST00000402717.3_Missense_Mutation_p.I1312R|NRXN1_ENST00000401669.2_Missense_Mutation_p.I1320R|NRXN1_ENST00000405472.3_Missense_Mutation_p.I1312R|NRXN1_ENST00000342183.5_Missense_Mutation_p.I255R|NRXN1_ENST00000401710.1_Missense_Mutation_p.I308R|NRXN1_ENST00000406859.3_Missense_Mutation_p.I1290R|NRXN1_ENST00000406316.2_Missense_Mutation_p.I1290R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1290					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)			ATTTCCCACTATGGCGATGTT	0.502000													36	55					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293046	130293046	+	Missense_Mutation	SNP	G	G	T	rs149093613		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:130293046G>T	ENST00000358511.6	+	7	3255	c.3224G>T	c.(3223-3225)gGa>gTa	p.G1075V	COL6A6_ENST00000453409.2_Missense_Mutation_p.G1075V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1075	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CAGATCTTTGGAAACACACAC	0.478000													36	57					5.43694e-19	8.31202e-19	1	1	0
BANF2	140836	broad.mit.edu	37	20	17705668	17705668	+	Splice_Site	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:17705668G>A	ENST00000545418.2	+	2	36	c.18_splice	c.e2-1	p.E7_splice	BANF2_ENST00000246090.5_5'UTR|BANF2_ENST00000377805.3_5'UTR	NM_001159495.1	NP_001152967.1	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	0						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						GCTGTCGCAGGAGATGGACAA	0.577000													27	72					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124627145	124627145	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:124627145T>C	ENST00000311075.3	-	11	1423	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	462						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						ATTTTGAAAGTCTTCGTCAAT	0.423000													15	45					0	0	1	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68788574	68788574	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:68788574G>T	ENST00000508048.1	-	7	623	c.588C>A	c.(586-588)gcC>gcA	p.A196A	TMPRSS11A_ENST00000334830.7_Silent_p.A200A|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11A_ENST00000396188.2_Silent_p.A197A			Q6ZMR5	TM11A_HUMAN	transmembrane protease, serine 11A	200	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GCCAAGGCCAGGCCGCCTTGG	0.453000													16	34					1.3612e-06	1.60536e-06	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25472146	25472146	+	RNA	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:25472146C>G	ENST00000453082.2	+	0	1188					NR_003343.1																						GCCCCCAGTGCGCTGAAGCTC	0.627000													36	8					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15280927	15280927	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:15280927G>T	ENST00000263388.2	-	28	5244	c.5169C>A	c.(5167-5169)gaC>gaA	p.D1723E		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1723					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGCACTCTGTGTCCATCCAGT	0.637000													6	1					5.9392e-07	7.11173e-07	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202976	140202976	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140202976C>T	ENST00000529859.1	+	1	1616	c.1616C>T	c.(1615-1617)gCg>gTg	p.A539V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A539V|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A539V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGACGCGGGCGTGCCG	0.687000													103	17					0	0	1	0	0
VSIG10	54621	broad.mit.edu	37	12	118533341	118533341	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:118533341C>A	ENST00000359236.5	-	2	634	c.358G>T	c.(358-360)Gcc>Tcc	p.A120S	VSIG10_ENST00000536905.1_5'UTR	NM_019086.5	NP_061959.2	Q8N0Z9	VSI10_HUMAN	V-set and immunoglobulin domain containing 10	120						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						CACTTACTGGCCACCTGCAGC	0.582000													38	34					1.57019e-19	2.41794e-19	1	1	0
SUN1	23353	broad.mit.edu	37	7	883161	883161	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:883161A>T	ENST00000457378.2	+	7	961	c.725A>T	c.(724-726)aAg>aTg	p.K242M	SUN1_ENST00000403868.1_Missense_Mutation_p.K221M|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000456758.2_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000389574.3_Intron	NM_001171945.1	NP_001165416.1	O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAAAATGTAAGTCTCAGTCC	0.473000													21	318					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341641	85341641	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:85341641T>A	ENST00000299927.3	+	4	2694	c.2672T>A	c.(2671-2673)gTc>gAc	p.V891D	ZNF592_ENST00000560079.2_Missense_Mutation_p.V891D			Q92610	ZN592_HUMAN	zinc finger protein 592	891					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGTGGGCGTCTTCAAGTGC	0.537000													12	46					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45477749	45477749	+	Silent	SNP	G	G	C	rs147024274	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:45477749G>C	ENST00000541297.2	+	4	786	c.321G>C	c.(319-321)acG>acC	p.T107T	CLPTM1_ENST00000546079.1_Silent_p.T19T|CLPTM1_ENST00000337392.5_Silent_p.T121T			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	121					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCAACGCCACGTCGGCACTCT	0.552000													69	16					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90106336	90106336	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:90106336G>T	ENST00000405460.2	+	74	15355	c.15259G>T	c.(15259-15261)Gaa>Taa	p.E5087*	GPR98_ENST00000425867.2_Nonsense_Mutation_p.E748*	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5087	Calx-beta 33.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTGAGATAGAAGAATTTTT	0.333000													38	59					1.06647e-15	1.54311e-15	1	1	0
ABI3BP	25890	broad.mit.edu	37	3	100617729	100617729	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:100617729C>A	ENST00000471714.1	-	4	468	c.359G>T	c.(358-360)cGt>cTt	p.R120L	ABI3BP_ENST00000495063.1_Missense_Mutation_p.R120L|ABI3BP_ENST00000532144.1_5'UTR|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R120L			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	120	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTGCGAGAACGAGTTTTACC	0.478000													26	77					6.07407e-21	9.58182e-21	1	1	0
C20orf166	128826	broad.mit.edu	37	20	61162264	61162264	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:61162264A>T	ENST00000370527.3	+	3	856	c.77A>T	c.(76-78)cAg>cTg	p.Q26L	C20orf166_ENST00000370523.1_Intron|C20orf166_ENST00000370524.2_Intron	NM_178463.3	NP_848558.1	Q9H1L0	CT166_HUMAN	chromosome 20 open reading frame 166	26										endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			AGGACCCAGCAGGTGGCGCGG	0.672000													4	1					0	0	1	0	0
ZNF706	51123	broad.mit.edu	37	8	102213962	102213962	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:102213962C>G	ENST00000520347.1	-	2	2964	c.8G>C	c.(7-9)cGt>cCt	p.R3P	ZNF706_ENST00000518336.1_Missense_Mutation_p.R3P|ZNF706_ENST00000517844.1_Missense_Mutation_p.R3P|ZNF706_ENST00000519882.1_Missense_Mutation_p.R3P|ZNF706_ENST00000521272.1_Missense_Mutation_p.R3P|ZNF706_ENST00000520984.1_Missense_Mutation_p.R3P|ZNF706_ENST00000311212.4_Missense_Mutation_p.R3P|ZNF706_ENST00000519744.1_Missense_Mutation_p.R3P			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	3						intracellular	zinc ion binding	p.R3P(2)		large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			CTGCTGTCCACGAGCCATATC	0.398000													8	39					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18789788	18789788	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:18789788T>A	ENST00000396576.2	+	4	840	c.339T>A	c.(337-339)tgT>tgA	p.C113*	CACNB2_ENST00000377319.3_Nonsense_Mutation_p.C113*|CACNB2_ENST00000324631.7_Nonsense_Mutation_p.C168*|CACNB2_ENST00000377315.4_Nonsense_Mutation_p.C120*|CACNB2_ENST00000352115.6_Nonsense_Mutation_p.C168*|CACNB2_ENST00000377329.4_Nonsense_Mutation_p.C114*|CACNB2_ENST00000282343.8_Nonsense_Mutation_p.C140*|CACNB2_ENST00000377331.2_Nonsense_Mutation_p.C140*|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	168					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGAAGGCTGTGAAATCGGAT	0.408000													34	40					0	0	1	0	0
FPGT	8790	broad.mit.edu	37	1	74670732	74670732	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:74670732G>T	ENST00000370898.2	+	4	1038	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	FPGT-TNNI3K_ENST00000557284.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370894.4_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron	NM_001199328.1|NM_003838.3	NP_001186257.1|NP_003829.2			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						GTAGAAATGAGGCAGAGAATA	0.363000													11	51					1.58986e-06	1.8632e-06	1	1	0
TRIM60	166655	broad.mit.edu	37	4	165962485	165962485	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:165962485T>A	ENST00000512596.1	+	3	1477	c.1261T>A	c.(1261-1263)Tat>Aat	p.Y421N	TRIM60_ENST00000508504.1_Missense_Mutation_p.Y421N|TRIM60_ENST00000341062.5_Missense_Mutation_p.Y421N	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	421	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTTCTGGACTATGAATTGGG	0.373000													47	60					0	0	1	0	0
PTPN5	84867	broad.mit.edu	37	11	18763889	18763889	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:18763889A>T	ENST00000396170.1	-	7	1813	c.549T>A	c.(547-549)ccT>ccA	p.P183P	PTPN5_ENST00000396171.4_Silent_p.P215P|PTPN5_ENST00000396167.2_Silent_p.P183P|PTPN5_ENST00000396168.1_Silent_p.P191P|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000358540.2_Silent_p.P215P|PTPN5_ENST00000477854.1_Silent_p.P19P	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	215						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AATCAAACACAGGAGTCTCGG	0.602000													45	43					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69058477	69058477	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:69058477G>T	ENST00000288368.4	+	34	4398	c.4121G>T	c.(4120-4122)cGg>cTg	p.R1374L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1374					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			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						GAAGGAAGTCGGCAAGCTCTG	0.328000													16	40					2.48551e-13	3.44539e-13	1	1	0
GPR32	2854	broad.mit.edu	37	19	51274696	51274696	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:51274696T>A	ENST00000270590.4	+	1	976	c.839T>A	c.(838-840)cTg>cAg	p.L280Q		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	280						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TTGGTCCATCTGTGGCGACGG	0.592000													82	14					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37385787	37385787	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:37385787C>A	ENST00000338564.5	-	7	1080	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	MEIS2_ENST00000397620.2_Missense_Mutation_p.D124Y|MEIS2_ENST00000557796.2_Missense_Mutation_p.D199Y|MEIS2_ENST00000559561.1_Missense_Mutation_p.D212Y|MEIS2_ENST00000561208.1_Missense_Mutation_p.D212Y|MEIS2_ENST00000397624.3_Missense_Mutation_p.D124Y|MEIS2_ENST00000559085.1_Missense_Mutation_p.D199Y|MEIS2_ENST00000340545.5_Missense_Mutation_p.D199Y|MEIS2_ENST00000444725.1_Missense_Mutation_p.D212Y|MEIS2_ENST00000219869.9_Missense_Mutation_p.D66Y|MEIS2_ENST00000424352.2_Missense_Mutation_p.D212Y|MEIS2_ENST00000382766.2_Missense_Mutation_p.D212Y	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	212	Ser/Thr-rich.				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		CTTACATGGTCAGCGAGATTT	0.428000													45	15					2.95478e-19	4.53127e-19	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242814847	242814847	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:242814847C>T	ENST00000343216.3	+	2	1168	c.1140C>T	c.(1138-1140)gcC>gcT	p.A380A		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	380						integral to membrane											TCAAGGATGCCGTTGCTGAGG	0.617000													11	30					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53621178	53621178	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:53621178T>A	ENST00000425354.2	-	3	639	c.152A>T	c.(151-153)cAg>cTg	p.Q51L	RARG_ENST00000543762.1_Intron|RARG_ENST00000327550.3_Intron|RARG_ENST00000394426.1_Missense_Mutation_p.Q51L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	51	Modulating.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	GAGGTCAGGCTGGCCCAGGCC	0.602000													11	40					0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93496749	93496749	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:93496749G>C	ENST00000394196.4	+	14	2733	c.1665G>C	c.(1663-1665)tgG>tgC	p.W555C	CHD2_ENST00000557381.1_Missense_Mutation_p.W555C	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	555	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TTGAAATCTGGGCACCAGAGA	0.448000													36	84					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30490663	30490663	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:30490663G>C	ENST00000356798.6	+	6	637	c.457G>C	c.(457-459)Ggc>Cgc	p.G153R	ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Intron|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000358164.5_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	153					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGTATCAAGGGCAACGTAGA	0.473000													19	28					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41337832	41337832	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:41337832G>T	ENST00000551295.2	+	14	1660	c.1543G>T	c.(1543-1545)Gat>Tat	p.D515Y	CNTN1_ENST00000347616.1_Missense_Mutation_p.D515Y|CNTN1_ENST00000348761.2_Missense_Mutation_p.D504Y|CNTN1_ENST00000547702.1_Missense_Mutation_p.D515Y|CNTN1_ENST00000360099.3_Missense_Mutation_p.D515Y|CNTN1_ENST00000547849.1_Missense_Mutation_p.D515Y	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	515	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AATTAATGCCGATATCACAGT	0.383000													21	51					1.2644e-06	1.49594e-06	1	1	0
HTT	3064	broad.mit.edu	37	4	3148599	3148599	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:3148599G>T	ENST00000355072.5	+	25	3364	c.3219G>T	c.(3217-3219)ctG>ctT	p.L1073L		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	1073					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TTCTGACCCTGCTCTCGTCAG	0.502000													94	173					1.52795e-29	2.63708e-29	1	1	0
ZNF382	84911	broad.mit.edu	37	19	37118372	37118372	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:37118372T>C	ENST00000435416.1	+	3	3065	c.1570T>C	c.(1570-1572)Tgt>Cgt	p.C524R	ZNF382_ENST00000292928.2_Missense_Mutation_p.C525R|ZNF382_ENST00000439428.1_Missense_Mutation_p.C524R|ZNF382_ENST00000423582.1_Missense_Mutation_p.C476R			Q96SR6	ZN382_HUMAN	zinc finger protein 382	525	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATGTAAACAGTGTGGGAAGTT	0.418000													26	90					0	0	1	0	0
CTNND1	1500	broad.mit.edu	37	11	57569605	57569605	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:57569605G>T	ENST00000524630.1	+	7	1870	c.1357G>T	c.(1357-1359)Gtg>Ttg	p.V453L	CTNND1_ENST00000531014.1_Missense_Mutation_p.V130L|CTNND1_ENST00000529986.1_Missense_Mutation_p.V352L|CTNND1_ENST00000528621.1_Missense_Mutation_p.V399L|CTNND1_ENST00000527467.1_Missense_Mutation_p.V130L|CTNND1_ENST00000415361.2_Missense_Mutation_p.V352L|CTNND1_ENST00000360682.6_Missense_Mutation_p.V453L|CTNND1_ENST00000428599.2_Missense_Mutation_p.V453L|CTNND1_ENST00000526357.1_Missense_Mutation_p.V399L|CTNND1_ENST00000361332.4_Missense_Mutation_p.V453L|CTNND1_ENST00000532463.1_Missense_Mutation_p.V352L|CTNND1_ENST00000525902.1_Missense_Mutation_p.V130L|CTNND1_ENST00000534579.1_Missense_Mutation_p.V399L|CTNND1_ENST00000530094.1_Missense_Mutation_p.V352L|CTNND1_ENST00000529526.1_Missense_Mutation_p.V399L|CTNND1_ENST00000532844.1_Missense_Mutation_p.V399L|CTNND1_ENST00000532787.1_Missense_Mutation_p.V352L|CTNND1_ENST00000529919.1_Missense_Mutation_p.V453L|CTNND1_ENST00000526772.1_Missense_Mutation_p.V130L|CTNND1_ENST00000528232.1_Missense_Mutation_p.V352L|CTNND1_ENST00000399050.4_Missense_Mutation_p.V453L|CTNND1_ENST00000361796.4_Missense_Mutation_p.V453L|CTNND1_ENST00000532649.1_Missense_Mutation_p.V399L|CTNND1_ENST00000530748.1_Missense_Mutation_p.V399L|CTNND1_ENST00000529873.1_Missense_Mutation_p.V399L|CTNND1_ENST00000526938.1_Missense_Mutation_p.V453L|CTNND1_ENST00000361391.6_Missense_Mutation_p.V453L|CTNND1_ENST00000399039.4_Missense_Mutation_p.V453L|CTNND1_ENST00000532245.1_Missense_Mutation_p.V352L|CTNND1_ENST00000358694.6_Missense_Mutation_p.V453L|CTNND1_ENST00000533667.1_Missense_Mutation_p.V130L|CTNND1_ENST00000426142.2_Missense_Mutation_p.V352L			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	453					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CTGTGATGGTGTGCCTGCCCT	0.458000													57	147					6.3091e-27	1.06902e-26	1	1	0
GIMAP7	168537	broad.mit.edu	37	7	150217354	150217354	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:150217354G>T	ENST00000313543.4	+	2	449	c.292G>T	c.(292-294)Gtt>Ttt	p.V98F		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	98							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTGTCCTAGTTCTGCTGCT	0.547000													29	38					1.17739e-12	1.60809e-12	1	1	0
MAMLD1	10046	broad.mit.edu	37	X	149639150	149639150	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:149639150C>A	ENST00000370401.2	+	4	1615	c.1305C>A	c.(1303-1305)acC>acA	p.T435T	MAMLD1_ENST00000432680.2_Silent_p.T410T|MAMLD1_ENST00000426613.2_Silent_p.T410T|MAMLD1_ENST00000262858.5_Silent_p.T435T			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	435					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCCTCTACCATCAAAACCC	0.602000													106	25					3.36245e-48	6.26141e-48	1	1	0
SLFN12L	100506736	broad.mit.edu	37	17	33802110	33802110	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:33802110C>A	ENST00000260908.7	-	4	1716	c.1599G>T	c.(1597-1599)tcG>tcT	p.S533S	SLFN12L_ENST00000449046.1_Silent_p.S564S|SLFN12L_ENST00000361112.4_Silent_p.S562S	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	565						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						AAATTACTTGCGAGTTTAAAT	0.383000													26	33					4.26978e-12	5.77333e-12	1	1	0
MCF2L	23263	broad.mit.edu	37	13	113730285	113730285	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:113730285G>A	ENST00000397030.1	+	12	1450	c.1413G>A	c.(1411-1413)atG>atA	p.M471I	MCF2L_ENST00000434480.2_Missense_Mutation_p.M444I|MCF2L_ENST00000423482.2_Missense_Mutation_p.M436I|MCF2L_ENST00000442652.2_Missense_Mutation_p.M468I|MCF2L_ENST00000375608.3_Missense_Mutation_p.M468I|MCF2L_ENST00000375604.2_Missense_Mutation_p.M495I|MCF2L_ENST00000421756.1_Missense_Mutation_p.M442I|MCF2L_ENST00000535094.2_Missense_Mutation_p.M438I|MCF2L_ENST00000375597.4_Missense_Mutation_p.M436I|MCF2L_ENST00000375601.3_Missense_Mutation_p.M442I			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	468					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCAGTCCATGAAGTGGTGTG	0.612000													11	9					0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370522	6370522	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:6370522T>A	ENST00000313324.4	-	2	731	c.264A>T	c.(262-264)gaA>gaT	p.E88D		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	88						nucleus											TTCTTACTGATTCTCTCACAT	0.542000													67	37					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764144	184764144	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:184764144C>T	ENST00000367511.3	-	14	2947	c.2754G>A	c.(2752-2754)caG>caA	p.Q918Q	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	918					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GGAAACTCTCCTGACCACCTT	0.512000													52	70					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81392079	81392079	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:81392079A>T	ENST00000222390.5	-	2	424	c.198T>A	c.(196-198)acT>acA	p.T66T	HGF_ENST00000457544.2_Silent_p.T66T|HGF_ENST00000423064.2_Silent_p.T66T|HGF_ENST00000444829.2_Silent_p.T66T|HGF_ENST00000354224.6_Silent_p.T66T|HGF_ENST00000453411.1_Silent_p.T66T|HGF_ENST00000453018.1_5'UTR	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	66	PAN.				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						ATTGGTCTGCAGTATTCACTT	0.308000													34	14					0	0	1	0	0
UNKL	64718	broad.mit.edu	37	16	1417181	1417181	+	Missense_Mutation	SNP	C	C	A	rs35080336		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:1417181C>A	ENST00000248104.7	-	5	1002	c.446G>T	c.(445-447)cGg>cTg	p.R149L	UNKL_ENST00000402641.2_Missense_Mutation_p.R152L|UNKL_ENST00000389221.4_Intron|UNKL_ENST00000397464.1_Intron|UNKL_ENST00000508903.2_Missense_Mutation_p.R653L|UNKL_ENST00000403703.1_Missense_Mutation_p.R152L|UNKL_ENST00000391893.2_Missense_Mutation_p.R149L	NM_001276414.1	NP_001263343.1	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	630						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CCCACAGCCCCGCAGCCCCGG	0.682000													4	3					0.00909568	0.00946511	1	1	0
SPIRE2	84501	broad.mit.edu	37	16	89924885	89924885	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:89924885G>T	ENST00000378247.3	+	8	1285	c.1242G>T	c.(1240-1242)ttG>ttT	p.L414F	SPIRE2_ENST00000393062.2_Missense_Mutation_p.L414F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	414					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CGCCTACCTTGGCTGAAATGG	0.592000													57	10					6.4308e-24	1.05477e-23	1	1	0
RHOXF2B	727940	broad.mit.edu	37	X	119211065	119211065	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:119211065A>T	ENST00000371402.2	-	2	457	c.268T>A	c.(268-270)Tgg>Agg	p.W90R	RP4-755D9.1_ENST00000553843.1_RNA	NM_001099685.1	NP_001093155.1	P0C7M4	RHF2B_HUMAN	Rhox homeobox family, member 2B	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|skin(3)|upper_aerodigestive_tract(1)	7						TTTCCTTCCCATAGGTGGCCA	0.602000													50	5					0	0	1	0	0
PFKFB1	5207	broad.mit.edu	37	X	54982641	54982641	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:54982641T>A	ENST00000375006.3	-	7	653	c.583A>T	c.(583-585)Aag>Tag	p.K195*	PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.K130*|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	195	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCAATTCTCTTTAGAAAGTCT	0.483000													9	5					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21531691	21531691	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:21531691C>T	ENST00000313654.9	+	73	9927	c.9686C>T	c.(9685-9687)tCg>tTg	p.S3229L	LAMA3_ENST00000399516.3_Missense_Mutation_p.S3173L|LAMA3_ENST00000269217.6_Missense_Mutation_p.S1620L|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.S1564L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3229	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTCAACGTCGGTCACACCA	0.542000													46	11					0	0	1	0	0
ZC3H6	376940	broad.mit.edu	37	2	113067564	113067564	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:113067564A>T	ENST00000409871.1	+	4	840	c.439A>T	c.(439-441)Aac>Tac	p.N147Y	ZC3H6_ENST00000343936.4_Missense_Mutation_p.N147Y	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	147							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						CAGTGATGACAACTTCGGTAA	0.368000													11	25					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111681117	111681117	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:111681117T>A	ENST00000374647.5	-	8	1021	c.714A>T	c.(712-714)gcA>gcT	p.A238A	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	238					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GTCCCAGTCCTGCCACAGGCT	0.522000													26	35					0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	56993338	56993338	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:56993338G>T	ENST00000475243.1	+	2	468	c.130G>T	c.(130-132)Gtg>Ttg	p.V44L	VAPB_ENST00000395802.3_Missense_Mutation_p.V44L|VAPB_ENST00000265619.2_3'UTR	NM_004738.4	NP_004729.1	O95292	VAPB_HUMAN	VAMP (vesicle-associated membrane protein)-associated protein B and C	44	MSP.				cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GTGTTTTAAGGTGAAGACTAC	0.502000													29	64					5.60225e-13	7.73694e-13	1	1	0
TTC39C	125488	broad.mit.edu	37	18	21711845	21711845	+	Splice_Site	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:21711845G>C	ENST00000540918.2	+	8	952		c.e8-1		TTC39C_ENST00000317571.3_Splice_Site|TTC39C_ENST00000304621.6_Splice_Site			Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C								binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TTTTCTTATAGACTGTAGGAA	0.368000													33	138					0	0	1	0	0
RXRG	6258	broad.mit.edu	37	1	165380290	165380290	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:165380290C>A	ENST00000359842.5	-	5	981	c.679G>T	c.(679-681)Gct>Tct	p.A227S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	227	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CCACTGGTAGCACATTCTGCC	0.488000													23	54					1.28384e-07	1.55865e-07	1	1	0
FBXO17	115290	broad.mit.edu	37	19	39440854	39440854	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:39440854G>T	ENST00000292852.4	-	2	447	c.106C>A	c.(106-108)Cgc>Agc	p.R36S	FBXO17_ENST00000595329.1_Missense_Mutation_p.R36S	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCAAGGAGCGTGGCGGCACG	0.751000													3	2					0.004672	0.00490296	1	1	0
PPP2R4	5524	broad.mit.edu	37	9	131904749	131904749	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:131904749A>T	ENST00000337738.1	+	10	1184	c.917A>T	c.(916-918)cAc>cTc	p.H306L	PPP2R4_ENST00000435132.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000348141.5_Missense_Mutation_p.H277L|PPP2R4_ENST00000524946.2_Missense_Mutation_p.H9L|PPP2R4_ENST00000358994.4_Missense_Mutation_p.H271L|PPP2R4_ENST00000347048.4_Missense_Mutation_p.H52L|PPP2R4_ENST00000357197.4_Missense_Mutation_p.H242L|PPP2R4_ENST00000393370.2_Missense_Mutation_p.H271L|PPP2R4_ENST00000432124.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000435305.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000452489.2_Missense_Mutation_p.H306L|PPP2R4_ENST00000432651.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000434095.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000423100.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000355007.3_Missense_Mutation_p.H229L|PPP2R4_ENST00000419582.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000414510.1_Missense_Mutation_p.H9L|PPP2R4_ENST00000436883.1_Missense_Mutation_p.H9L	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	306					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TTTGCAGAGCACTCCAACCAG	0.567000											OREG0003933	type=REGULATORY REGION|Gene=PPP2R4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	24					0	0	1	0	0
EXD3	54932	broad.mit.edu	37	9	140245519	140245519	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:140245519C>A	ENST00000340951.4	-	14	1660	c.1465G>T	c.(1465-1467)Ggc>Tgc	p.G489C	EXD3_ENST00000342129.4_Missense_Mutation_p.G169C	NM_017820.3	NP_060290.3	Q8N9H8	MUT7_HUMAN	exonuclease 3'-5' domain containing 3	489					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						AGGTCCATGCCGCCCAGAATC	0.667000													3	2					0.00909568	0.00946511	1	1	0
NISCH	11188	broad.mit.edu	37	3	52523629	52523629	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:52523629C>T	ENST00000345716.4	+	17	3525	c.3391C>T	c.(3391-3393)Ctc>Ttc	p.L1131F	NISCH_ENST00000479054.1_Missense_Mutation_p.L1131F	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1131					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CTGCCCGTCGCTCCGGCACGT	0.682000													38	18					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65413416	65413416	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:65413416C>A	ENST00000519389.1	+	8	1646	c.1467C>A	c.(1465-1467)gcC>gcA	p.A489A	HEPH_ENST00000441993.2_Silent_p.A438A|HEPH_ENST00000336279.5_Silent_p.A168A|HEPH_ENST00000343002.2_Silent_p.A435A|HEPH_ENST00000419594.1_Silent_p.A438A|HEPH_ENST00000374727.3_Silent_p.A438A			Q9BQS7	HEPH_HUMAN	hephaestin	435	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GATATGAAGCCTTTCAAGATG	0.373000													11	2					0.00829132	0.0086828	1	1	0
CUX1	1523	broad.mit.edu	37	7	101843431	101843431	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:101843431G>T	ENST00000360264.3	+	17	2094	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*	CUX1_ENST00000292535.7_Nonsense_Mutation_p.E681*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.E659*|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.E579*|CUX1_ENST00000560541.1_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	681					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCCAAGAGGGAGCTCCAAGT	0.493000													15	51					1.15088e-07	1.39837e-07	1	1	0
USP38	84640	broad.mit.edu	37	4	144135557	144135557	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:144135557G>T	ENST00000307017.4	+	9	2934	c.2428G>T	c.(2428-2430)Gat>Tat	p.D810Y	USP38_ENST00000510377.1_Missense_Mutation_p.D810Y	NM_032557.5	NP_115946.2	Q8NB14	UBP38_HUMAN	ubiquitin specific peptidase 38	810					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					TTGGTCTGTAGATGTTGACTT	0.378000													43	70					1.15183e-24	1.91243e-24	1	1	0
TG	7038	broad.mit.edu	37	8	133899670	133899670	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:133899670C>T	ENST00000220616.4	+	9	2093	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	TG_ENST00000377869.1_Missense_Mutation_p.P685S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	685	Thyroglobulin type-1 6.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTTGTTTGTCCCTGCTTGTAC	0.557000													64	32					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148465	155148465	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:155148465G>T	ENST00000392451.2	+	3	510	c.427G>T	c.(427-429)Ggt>Tgt	p.G143C	TRIM46_ENST00000334634.4_Missense_Mutation_p.G143C|TRIM46_ENST00000543729.1_Missense_Mutation_p.G150C|TRIM46_ENST00000368383.3_Missense_Mutation_p.G143C|TRIM46_ENST00000368382.1_Missense_Mutation_p.G120C|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Missense_Mutation_p.G17C|TRIM46_ENST00000368385.4_Missense_Mutation_p.G143C			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	143						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGGGAGCGGGGTCTGGCAGG	0.617000													106	253					1.32035e-51	2.4742e-51	1	1	0
LAMA5	3911	broad.mit.edu	37	20	60900455	60900455	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:60900455C>A	ENST00000252999.3	-	41	5512	c.5446G>T	c.(5446-5448)Gcc>Tcc	p.A1816S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1816	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGGGCTGGCCACCTCCAGT	0.662000													9	13					0.000274275	0.000301459	1	1	0
GRM6	2916	broad.mit.edu	37	5	178413298	178413298	+	Missense_Mutation	SNP	G	G	A	rs140491408		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:178413298G>A	ENST00000231188.5	-	8	2135	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	GRM6_ENST00000517717.1_Missense_Mutation_p.R653C|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	653					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAGCCTGCGGGCGGCACAG	0.642000													3	18					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198436807	198436807	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:198436807A>G	ENST00000295049.3	-	9	1967	c.1431T>C	c.(1429-1431)agT>agC	p.S477S		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	477						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGACGTTGTCACTGCTGCTGA	0.557000													31	49					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202807	140202807	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140202807G>T	ENST00000529859.1	+	1	1447	c.1447G>T	c.(1447-1449)Gcg>Tcg	p.A483S	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A483S|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A483S|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGGAGAA	0.667000													74	17					5.32961e-40	9.69376e-40	1	1	0
RTN4RL1	146760	broad.mit.edu	37	17	1840378	1840378	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:1840378G>A	ENST00000331238.5	-	2	756	c.738C>T	c.(736-738)gcC>gcT	p.A246A		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	246					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGAACTCCAGGGCCCCCAGCG	0.672000													6	3					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109680336	109680336	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:109680336G>T	ENST00000338432.7	+	37	5236	c.5117G>T	c.(5116-5118)cGa>cTa	p.R1706L	ACACB_ENST00000377854.5_Missense_Mutation_p.R1636L|ACACB_ENST00000543201.1_Missense_Mutation_p.R372L|ACACB_ENST00000377848.3_Missense_Mutation_p.R1706L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1706					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAGGCCAAGCGATTCCAGGCC	0.587000													26	48					2.44723e-14	3.46342e-14	1	1	0
MRGPRE	116534	broad.mit.edu	37	11	3249999	3249999	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:3249999C>A	ENST00000389832.5	-	2	337	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.V10L			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	10						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)		GCGGCCCCCACGTGCTGTCCA	0.667000													9	18					3.86212e-05	4.35441e-05	1	1	0
COBL	23242	broad.mit.edu	37	7	51287547	51287547	+	Missense_Mutation	SNP	C	C	A	rs149804009	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:51287547C>A	ENST00000395542.2	-	2	320	c.136G>T	c.(136-138)Ggg>Tgg	p.G46W	COBL_ENST00000441453.1_Missense_Mutation_p.G46W|COBL_ENST00000395540.2_Missense_Mutation_p.G46W|COBL_ENST00000265136.7_Missense_Mutation_p.G46W			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	46										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCTGCGACCCGAGGGCCCCA	0.622000													13	75					5.50884e-06	6.34584e-06	1	1	0
MAP3K14	9020	broad.mit.edu	37	17	43351872	43351872	+	RNA	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:43351872C>G	ENST00000344686.2	-	0	1484							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGGCCCTTCTCTCACAGCTCC	0.557000													30	19					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100518297	100518297	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:100518297A>T	ENST00000457717.1	+	9	1239	c.983A>T	c.(982-984)aAc>aTc	p.N328I	MTTP_ENST00000511045.1_Missense_Mutation_p.N355I|MTTP_ENST00000265517.5_Missense_Mutation_p.N328I|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	328	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	GCTGTCAGAAACTTCCTGGCC	0.478000													34	44					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70070470	70070470	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:70070470A>T	ENST00000325845.7	-	0	425				PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TTGTTCTCCAATATTTTGGAT	0.363000													15	92					0	0	1	0	0
MSRA	4482	broad.mit.edu	37	8	10102718	10102718	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:10102718A>G	ENST00000528246.1	+	4	741	c.118A>G	c.(118-120)Aaa>Gaa	p.K40E	MSRA_ENST00000518255.1_Missense_Mutation_p.K106E|MSRA_ENST00000441698.2_Intron|MSRA_ENST00000317173.4_Missense_Mutation_p.K106E|MSRA_ENST00000521209.2_Missense_Mutation_p.K40E|MSRA_ENST00000382490.5_Missense_Mutation_p.K63E	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	106					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	TCCTACTTATAAAGAAGTCTG	0.418000													24	49					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19389226	19389226	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:19389226G>C	ENST00000328405.2	+	5	846	c.580G>C	c.(580-582)Gta>Cta	p.V194L	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	194						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GAATGTTTTTGTAGATAAACC	0.368000													47	18					0	0	1	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820265	35820265	+	Silent	SNP	C	C	T	rs5928990	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:35820265C>T	ENST00000399992.1	+	3	147	c.48C>T	c.(46-48)tgC>tgT	p.C16C	MAGEB16_ENST00000399985.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTTCATTGCCTGCCCTCCT	0.522000													3	13					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1523390	1523390	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:1523390C>A	ENST00000389470.4	-	27	4014	c.4015G>T	c.(4015-4017)Ggc>Tgc	p.G1339C	INTS1_ENST00000404767.3_Missense_Mutation_p.G1177C			Q8N201	INT1_HUMAN	integrator complex subunit 1	1177					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)		CGAGGCGGGCCCAGCGTCAGC	0.677000													16	39					1.37285e-15	1.98257e-15	1	1	0
ECEL1	9427	broad.mit.edu	37	2	233350867	233350867	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:233350867G>T	ENST00000304546.1	-	2	707	c.497C>A	c.(496-498)gCg>gAg	p.A166E	ECEL1_ENST00000409941.1_Missense_Mutation_p.A166E	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	166					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		cccgggccgcgccAGCAGGCG	0.731000													4	4					0.00024832	0.000274352	1	1	0
CACNA1I	8911	broad.mit.edu	37	22	40055065	40055065	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:40055065C>A	ENST00000336649.4	+	15	2292	c.2292C>A	c.(2290-2292)acC>acA	p.T764T	CACNA1I_ENST00000404898.1_Silent_p.T723T|CACNA1I_ENST00000407673.1_Silent_p.T723T|CACNA1I_ENST00000400164.3_Silent_p.T723T|CACNA1I_ENST00000402142.3_Silent_p.T758T|CACNA1I_ENST00000401624.1_Silent_p.T758T			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	758					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCATGAAGACCATGGACAACG	0.632000													23	4					7.92952e-12	1.06636e-11	1	1	0
HK1	3098	broad.mit.edu	37	10	71158457	71158457	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:71158457A>T	ENST00000448642.2	+	22	2976	c.2587A>T	c.(2587-2589)Agg>Tgg	p.R863W	HK1_ENST00000360289.2_Missense_Mutation_p.R816W|HK1_ENST00000359426.6_Missense_Mutation_p.R828W|HK1_ENST00000404387.2_Missense_Mutation_p.R832W|HK1_ENST00000298649.3_Missense_Mutation_p.R827W			P19367	HXK1_HUMAN	hexokinase 1	828	Catalytic.|Glucose-6-phosphate 2 binding.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGTGGTGTCCAGGAGGGCCGC	0.587000													23	19					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161519452	161519452	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:161519452G>C	ENST00000392142.4	+	17	3815	c.3667G>C	c.(3667-3669)Gat>Cat	p.D1223H	MAP3K4_ENST00000366919.2_Intron|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D1219H|MAP3K4_ENST00000348824.7_Intron	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1223					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CAGTGCCCATGATACCAGGTA	0.597000													46	54					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101520708	101520708	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:101520708C>A	ENST00000392979.3	+	26	2984	c.2623C>A	c.(2623-2625)Cca>Aca	p.P875T	ANO4_ENST00000392977.3_Missense_Mutation_p.P910T|ANO4_ENST00000550015.1_Missense_Mutation_p.P430T|ANO4_ENST00000299222.9_Missense_Mutation_p.P430T	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	910						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCAGACCTCCCAAAAGACCT	0.443000										HNSCC(74;0.22)			21	28					1.96292e-10	2.56544e-10	1	1	0
SPATA31E1	286234	broad.mit.edu	37	9	90500214	90500214	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:90500214C>A	ENST00000325643.5	+	4	878	c.812C>A	c.(811-813)aCa>aAa	p.T271K		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		TGTGGCTCCACAACATGCCCC	0.632000													12	20					1.00905e-13	1.40661e-13	1	1	0
ANKRD36	375248	broad.mit.edu	37	2	97875437	97875437	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:97875437A>T	ENST00000420699.2	+	55	3529	c.3285A>T	c.(3283-3285)ccA>ccT	p.P1095P	ANKRD36_ENST00000461153.2_Silent_p.P1095P	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1095										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						GGAAAAAACCAGCCTTGAAGG	0.333000													9	65					0	0	1	0	0
RNF144A	9781	broad.mit.edu	37	2	7164644	7164644	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:7164644G>T	ENST00000320892.6	+	7	1096	c.654G>T	c.(652-654)ctG>ctT	p.L218L	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	218						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGGAGTCTCTGGACGTGAGTA	0.512000													14	50					2.32078e-09	2.96279e-09	1	1	0
SLC35F1	222553	broad.mit.edu	37	6	118556735	118556735	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:118556735T>C	ENST00000360388.4	+	3	614	c.413T>C	c.(412-414)aTa>aCa	p.I138T		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	138					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGGGACTCATAGACCTGGAA	0.433000													10	43					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38189015	38189015	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:38189015A>G	ENST00000317025.8	-	5	1516	c.999T>C	c.(997-999)caT>caC	p.H333H	WHSC1L1_ENST00000527502.1_Silent_p.H333H|WHSC1L1_ENST00000433384.2_Silent_p.H333H|WHSC1L1_ENST00000316985.3_Silent_p.H333H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	333	PWWP 1.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CATACTGTTTATGACCTTTAT	0.398000			T	NUP98	AML								27	22					0	0	1	0	0
LCE1D	353134	broad.mit.edu	37	1	152770507	152770507	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152770507C>A	ENST00000326233.6	+	2	280	c.237C>A	c.(235-237)caC>caA	p.H79Q		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	79	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGGCGCCACAGGTCCCACC	0.711000													26	47					3.6726e-16	5.36626e-16	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159403692	159403692	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:159403692G>A	ENST00000367069.2	-	5	1157	c.521C>T	c.(520-522)cCa>cTa	p.P174L	RSPH3_ENST00000297262.3_Missense_Mutation_p.P220L|RSPH3_ENST00000252655.1_Missense_Mutation_p.P316L|RSPH3_ENST00000449822.1_Missense_Mutation_p.P78L			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	316										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TTCTAACACTGGTTTAACTTC	0.358000													17	19					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319642	21319642	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:21319642G>T	ENST00000583088.1	+	3	1883	c.988G>T	c.(988-990)Gtg>Ttg	p.V330L	KCNJ12_ENST00000331718.5_Missense_Mutation_p.V330L	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CTTTGAGCCCGTGCTCTTCGA	0.592000										Prostate(3;0.18)			16	144					4.7546e-09	6.01818e-09	1	1	0
NEFL	4747	broad.mit.edu	37	8	24813270	24813270	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:24813270G>T	ENST00000221169.5	-	0	1354							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCGGCGGAAAGGTCGGGCTTG	0.587000													17	12					8.60227e-14	1.20254e-13	1	1	0
MED14	9282	broad.mit.edu	37	X	40531144	40531144	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:40531144C>A	ENST00000324817.1	-	23	3220	c.3102G>T	c.(3100-3102)caG>caT	p.Q1034H		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1034	Pro-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGAGGGAGACTGATTGACTG	0.398000													5	44					0.000602214	0.000653205	1	1	0
NOTCH4	4855	broad.mit.edu	37	6	32187964	32187964	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:32187964C>A	ENST00000375023.3	-	7	1395	c.1257G>T	c.(1255-1257)ctG>ctT	p.L419L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	419	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGGCTGACACAGGCAGAGTG	0.617000													69	12					2.42712e-22	3.90336e-22	1	1	0
MYH7	4625	broad.mit.edu	37	14	23902777	23902777	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:23902777C>A	ENST00000355349.3	-	3	327	c.165G>T	c.(163-165)gaG>gaT	p.E55D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	55	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTTGCCACCCTCTCGAGACA	0.567000													40	72					1.15505e-17	1.72676e-17	1	1	0
MYBPC2	4606	broad.mit.edu	37	19	50939300	50939300	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:50939300C>A	ENST00000357701.5	+	4	279	c.228C>A	c.(226-228)aaC>aaA	p.N76K		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	76	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCAAGGTGAACGGGAAGGAGC	0.602000													4	0					0.150653	0.152397	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168104334	168104334	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:168104334T>A	ENST00000409195.1	+	9	6521	c.6432T>A	c.(6430-6432)ccT>ccA	p.P2144P	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.P1922P|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.P2144P|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1969	Pro-rich.				actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAGAGTCCTAAAAAGACCA	0.408000													19	72					0	0	1	0	0
KRTAP4-12	83755	broad.mit.edu	37	17	39280110	39280110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39280110G>A	ENST00000394014.1	-	1	309	c.265C>T	c.(265-267)Cag>Tag	p.Q89*		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	89	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACTGGGGTCTGCAG	0.677000													43	58					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105397112	105397112	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:105397112A>T	ENST00000540372.1	+	7	964	c.772A>T	c.(772-774)Agc>Tgc	p.S258C	PLD4_ENST00000392593.4_Missense_Mutation_p.S251C			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	251					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)	CTATAACTGCAGCCACCTGGC	0.597000													36	153					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215848574	215848574	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:215848574C>A	ENST00000272895.7	-	29	4398	c.4179G>T	c.(4177-4179)ggG>ggT	p.G1393G	ABCA12_ENST00000389661.4_Silent_p.G1075G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1393	ABC transporter 1.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CCCCAAACAGCCCAGTTAACA	0.403000													28	38					2.44723e-14	3.46342e-14	1	1	0
ANKRD33	341405	broad.mit.edu	37	12	52282556	52282556	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:52282556G>T	ENST00000301190.6	+	2	577	c.350G>T	c.(349-351)gGt>gTt	p.G117V	ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	177										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ATACTGGATGGTGGGGTCTCC	0.642000													22	36					6.44725e-10	8.36005e-10	1	1	0
PCDHB1	29930	broad.mit.edu	37	5	140433353	140433353	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140433353T>C	ENST00000306549.3	+	1	2375	c.2298T>C	c.(2296-2298)agT>agC	p.S766S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		766					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGGTAATAGTGAGTTTCGCT	0.463000													72	24					0	0	1	0	0
PANK1	53354	broad.mit.edu	37	10	91359245	91359245	+	Silent	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:91359245C>G	ENST00000307534.4	-	3	1229	c.1074G>C	c.(1072-1074)ctG>ctC	p.L358L	PANK1_ENST00000342512.3_Silent_p.L133L|PANK1_ENST00000322191.6_Silent_p.L133L|PANK1_ENST00000371774.2_Silent_p.L160L	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	358					coenzyme A biosynthetic process|pantothenate metabolic process	cytosol|nucleus	ATP binding|pantothenate kinase activity	p.L358L(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11					Bezafibrate(DB01393)	CCAGTTTATGCAGCTGCAGGT	0.428000													44	23					0	0	1	0	0
UBE2Q1	55585	broad.mit.edu	37	1	154525295	154525295	+	Splice_Site	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:154525295C>T	ENST00000292211.4	-	6	810	c.729_splice	c.e6-1	p.G244_splice	UBE2Q1_ENST00000497453.1_5'UTR	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	244							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGACACTGCACCCTGTGAGGG	0.532000													28	83					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37795163	37795163	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:37795163A>G	ENST00000307599.4	-	3	501	c.402T>C	c.(400-402)tcT>tcC	p.S134S		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	134					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			AACCTTTTTGAGAAGAGATGA	0.483000													7	6					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160309	41160309	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:41160309A>C	ENST00000263413.3	-	11	1883	c.1619T>G	c.(1618-1620)cTg>cGg	p.L540R	C6_ENST00000337836.5_Missense_Mutation_p.L540R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	540	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACACACACACAGACATTCAGT	0.468000													52	72					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755282	76755282	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:76755282C>A	ENST00000536229.3	+	2	3385	c.2676C>A	c.(2674-2676)ggC>ggA	p.G892G	SALL3_ENST00000575389.2_Silent_p.G1025G|SALL3_ENST00000537592.2_Silent_p.G1097G			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1097					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGGGCCCGGGCCTGGCGCCCA	0.736000													5	4					0.014758	0.0152718	1	1	0
OR7G2	390882	broad.mit.edu	37	19	9213344	9213344	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:9213344G>T	ENST00000305456.2	-	1	638	c.639C>A	c.(637-639)acC>acA	p.T213T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						TATTGATGAGGGTGTCTGAAC	0.463000													64	16					5.82218e-30	1.01072e-29	1	1	0
KLK3	354	broad.mit.edu	37	19	51361739	51361739	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:51361739G>T	ENST00000360617.3	+	4	518	c.518G>T	c.(517-519)tGt>tTt	p.C173F	KLK3_ENST00000326003.2_Missense_Mutation_p.C173F|KLK3_ENST00000595952.1_Missense_Mutation_p.C130F|KLK3_ENST00000593997.1_Missense_Mutation_p.C173F|KLK3_ENST00000597483.1_Missense_Mutation_p.C130F			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	173	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		AAACTTCAGTGTGTGGACCTC	0.552000													117	13					7.82945e-61	1.484e-60	1	1	0
CDH7	1005	broad.mit.edu	37	18	63547683	63547683	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:63547683C>A	ENST00000397968.2	+	12	2337	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P	CDH7_ENST00000323011.3_Silent_p.P637P	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	637					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AAAAAGAGCCCCTTATTTTTG	0.458000													5	28					1	1	1	1	0
MALT1	10892	broad.mit.edu	37	18	56377243	56377243	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:56377243C>G	ENST00000348428.3	+	6	1122	c.864C>G	c.(862-864)taC>taG	p.Y288*	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Nonsense_Mutation_p.Y288*	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	288	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAGGAACCTACTGGTGTCATG	0.363000			T	BIRC3	MALT								42	39					0	0	1	0	0
EPHA5	2044	broad.mit.edu	37	4	66467704	66467704	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:66467704C>A	ENST00000273854.3	-	3	1165	c.565G>T	c.(565-567)Ggt>Tgt	p.G189C	EPHA5_ENST00000432638.2_Missense_Mutation_p.G189C|EPHA5_ENST00000354839.4_Missense_Mutation_p.G189C|EPHA5_ENST00000511294.1_Missense_Mutation_p.G189C	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	189					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	p.G189S(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACACGGTCACCAAGATCAAGT	0.393000										TSP Lung(17;0.13)			32	55					6.00712e-18	9.04416e-18	1	1	0
GAD2	2572	broad.mit.edu	37	10	26534849	26534849	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:26534849G>T	ENST00000376261.3	+	8	1343		c.e8-1		GAD2_ENST00000259271.3_Splice_Site	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)						glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTTTTTTACAGAGTCATTTTT	0.378000													5	18					0.00116845	0.00125275	1	1	0
GPR112	139378	broad.mit.edu	37	X	135430972	135430972	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:135430972A>C	ENST00000394143.1	+	6	5398	c.5107A>C	c.(5107-5109)Act>Cct	p.T1703P	GPR112_ENST00000370652.1_Missense_Mutation_p.T1703P|GPR112_ENST00000412101.1_Missense_Mutation_p.T1498P|GPR112_ENST00000394141.1_Missense_Mutation_p.T1498P|GPR112_ENST00000287534.4_Missense_Mutation_p.T1640P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1703					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCTATCAGCAACTCAACAGTC	0.453000													45	89					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75658918	75658918	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:75658918C>A	ENST00000565683.1	-	4	378	c.367G>T	c.(367-369)Ggt>Tgt	p.G123C	MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000563622.1_Missense_Mutation_p.G123C|MAN2C1_ENST00000267978.5_Missense_Mutation_p.G123C|MAN2C1_ENST00000569482.1_Missense_Mutation_p.G123C	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	123					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GTCTTCTCACCCTCTTTGGTT	0.562000													3	6					0.004672	0.00490296	1	1	0
TTN	7273	broad.mit.edu	37	2	179612967	179612967	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179612967A>G	ENST00000360870.5	-	46	14382	c.14160T>C	c.(14158-14160)tcT>tcC	p.S4720S	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	829	Ig-like 27.						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)			AGGATTTAAGAGAAAGATCAG	0.333000													45	60					0	0	1	0	0
BLK	640	broad.mit.edu	37	8	11418941	11418941	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:11418941G>T	ENST00000259089.4	+	11	1752	c.1160G>T	c.(1159-1161)aGt>aTt	p.S387I	BLK_ENST00000529894.1_Missense_Mutation_p.S316I	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	387	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		ATCATCGACAGTGAATACACG	0.537000													4	17					1.23904e-05	1.41306e-05	1	1	0
SLC16A6	9120	broad.mit.edu	37	17	66267740	66267740	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:66267740G>T	ENST00000327268.4	-	6	725	c.561C>A	c.(559-561)ggC>ggA	p.G187G	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Silent_p.G187G	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	187						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	ACTGTAGTAGGCCCACGAAGA	0.453000													63	40					1.1362e-29	1.96782e-29	1	1	0
PCDHB8	56128	broad.mit.edu	37	5	140558223	140558223	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140558223G>T	ENST00000239444.2	+	1	853	c.608G>T	c.(607-609)cGa>cTa	p.R203L		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		203	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGACCGAGAGGAAGAA	0.532000													61	166					2.73361e-28	4.67451e-28	1	1	0
CYP11B1	1584	broad.mit.edu	37	8	143956677	143956677	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:143956677C>A	ENST00000292427.4	-	7	1205	c.1173G>T	c.(1171-1173)gtG>gtT	p.V391V	CYP11B1_ENST00000517471.1_Silent_p.V391V|CYP11B1_ENST00000377675.3_Silent_p.V462V	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	391					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGTTCTGAAGCACCAAGTCTG	0.612000									Familial Hyperaldosteronism type I				6	37					0.0215528	0.022195	1	1	0
DCAF12L1	139170	broad.mit.edu	37	X	125686260	125686260	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:125686260A>G	ENST00000371126.1	-	1	574	c.332T>C	c.(331-333)gTg>gCg	p.V111A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	111										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCGCACACCACCTGCCTGGA	0.637000													44	10					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936627	30936627	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:30936627C>A	ENST00000355537.3	+	2	2305	c.2158C>A	c.(2158-2160)Cca>Aca	p.P720T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	720					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCTCCTCGCCATCCTCCTC	0.667000													7	20					2.7689e-08	3.45183e-08	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123329111	123329111	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:123329111G>T	ENST00000296513.2	+	8	958	c.773G>T	c.(772-774)aGc>aTc	p.S258I	ADAD1_ENST00000388725.2_Missense_Mutation_p.S240I|ADAD1_ENST00000388724.2_Missense_Mutation_p.S258I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	258	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TACAATTACAGCCAGGACATT	0.393000													7	54					0.000157383	0.000174923	1	1	0
UBBP4	23666	broad.mit.edu	37	17	21731020	21731020	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:21731020G>T	ENST00000584755.1	+	2	719	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.D108Y																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CAAGATCCAAGATAAAGAAGG	0.532000													34	33					5.8336e-16	8.47384e-16	1	1	0
CCDC132	55610	broad.mit.edu	37	7	92938212	92938212	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:92938212G>T	ENST00000544910.1	+	20	1836	c.1616G>T	c.(1615-1617)cGa>cTa	p.R539L	CCDC132_ENST00000535481.1_Missense_Mutation_p.R289L|CCDC132_ENST00000305866.5_Missense_Mutation_p.R569L|CCDC132_ENST00000317751.6_Missense_Mutation_p.R300L|CCDC132_ENST00000541136.1_Missense_Mutation_p.R380L	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	569										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GAACTCAAACGAGACTATGTG	0.373000													23	19					4.16121e-05	4.68807e-05	1	1	0
UBAP2L	9898	broad.mit.edu	37	1	154218751	154218751	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:154218751C>T	ENST00000428931.1	+	11	1081	c.914C>T	c.(913-915)tCt>tTt	p.S305F	UBAP2L_ENST00000361546.2_Missense_Mutation_p.S305F|UBAP2L_ENST00000343815.6_Missense_Mutation_p.S305F|UBAP2L_ENST00000271877.7_Missense_Mutation_p.S316F	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	305					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGGATCCGTCTCAGGCTCCT	0.478000													43	121					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73681072	73681072	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:73681072G>T	ENST00000264448.6	+	8	7526	c.7415G>T	c.(7414-7416)gGt>gTt	p.G2472V	ALMS1_ENST00000409009.1_Missense_Mutation_p.G2430V|ALMS1_ENST00000377715.1_Missense_Mutation_p.G2472V	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2472					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GATGGTGGTGGTAGCAGTGTA	0.428000													31	30					6.04164e-23	9.77983e-23	1	1	0
MDN1	23195	broad.mit.edu	37	6	90463860	90463860	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:90463860C>A	ENST00000369393.3	-	21	3021	c.2906G>T	c.(2905-2907)cGg>cTg	p.R969L	MDN1_ENST00000428876.1_Missense_Mutation_p.R969L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	969					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCGCAGGGCCCGGCACAGAGT	0.502000													26	30					1.5548e-18	2.35999e-18	1	1	0
RTBDN	83546	broad.mit.edu	37	19	12936646	12936646	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:12936646C>A	ENST00000322912.5	-	7	977	c.660G>T	c.(658-660)gcG>gcT	p.A220A	RTBDN_ENST00000592204.1_Silent_p.A198A|RTBDN_ENST00000589272.1_3'UTR|RTBDN_ENST00000458671.2_Silent_p.A188A|RTBDN_ENST00000393233.2_3'UTR|CTD-2265O21.3_ENST00000588469.1_RNA	NM_031429.2	NP_113617.1	Q9BSG5	RTBDN_HUMAN	retbindin	188						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						GACGAGGTACCGCGGAGATGG	0.697000											OREG0025275	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	6					0.00400662	0.00423159	1	1	0
AGPS	8540	broad.mit.edu	37	2	178257522	178257522	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:178257522C>A	ENST00000264167.4	+	1	151	c.5C>A	c.(4-6)gCg>gAg	p.A2E	AGPS_ENST00000409888.1_Missense_Mutation_p.A2E	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	2	Poly-Ala.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTAGCCATGGCGGAGGCGGCG	0.771000													3	2					1	1	1	1	0
SHANK3	85358	broad.mit.edu	37	22	51143400	51143400	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:51143400G>C	ENST00000414786.2	+	16	2090	c.1863G>C	c.(1861-1863)ggG>ggC	p.G621G	SHANK3_ENST00000445220.2_Silent_p.G636G|SHANK3_ENST00000262795.3_Silent_p.G651G			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	651								p.G651G(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		AGGTGAACGGGGTGAACGTGG	0.632000													22	41					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57335835	57335835	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:57335835A>G	ENST00000342756.5	+	2	847	c.126A>G	c.(124-126)aaA>aaG	p.K42K	SRP72_ENST00000510663.1_Silent_p.K42K|SRP72_ENST00000504757.1_Silent_p.K42K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	42					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					AGATCAACAAAGATGACGTAA	0.363000													6	79					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49933244	49933244	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:49933244G>A	ENST00000257981.6	+	1	305	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	15					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACACCTTCCTGGACACCATCG	0.751000													7	9					0	0	1	0	0
OASL	8638	broad.mit.edu	37	12	121461868	121461868	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:121461868C>G	ENST00000257570.5	-	5	1242	c.972G>C	c.(970-972)caG>caC	p.Q324H	OASL_ENST00000339275.5_Missense_Mutation_p.E244Q	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	324				Q -> L (in Ref. 2; AAD28541).	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGAGGCCCTCTGAGCAACGA	0.582000													22	37					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9928001	9928001	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:9928001T>A	ENST00000396573.2	-	9	2047	c.1738A>T	c.(1738-1740)Agc>Tgc	p.S580C	GRIN2A_ENST00000535259.1_Missense_Mutation_p.S423C|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S580C|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S580C|GRIN2A_ENST00000562109.1_Missense_Mutation_p.S580C|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S580C	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	580					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAACAGGGCTGAAGTATTCA	0.398000													55	69					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825641	4825641	+	Silent	SNP	G	G	A	rs75367908	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:4825641G>A	ENST00000380382.1	-	1	206	c.207C>T	c.(205-207)tgC>tgT	p.C69C	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGGGAACGCAATCTACTC	0.453000													20	45					0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684077	6684077	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:6684077G>C	ENST00000321535.4	+	2	1020	c.890G>C	c.(889-891)cGc>cCc	p.R297P		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	297										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AAGTACGAACGCTTGGCCCGA	0.527000													27	11					0	0	1	0	0
LOXL2	4017	broad.mit.edu	37	8	23174526	23174526	+	Missense_Mutation	SNP	G	G	T	rs142665521	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:23174526G>T	ENST00000389131.3	-	9	1941	c.1572C>A	c.(1570-1572)gaC>gaA	p.D524E		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	524	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGTCCTCCCCGTCGTGGCGGC	0.652000													24	38					1.96895e-08	2.46077e-08	1	1	0
VAV2	7410	broad.mit.edu	37	9	136650949	136650949	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:136650949C>A	ENST00000371851.1	-	15	1776	c.1451G>T	c.(1450-1452)tGc>tTc	p.C484F	VAV2_ENST00000371850.3_Missense_Mutation_p.C494F|VAV2_ENST00000406606.3_Missense_Mutation_p.C484F			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	494	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TTCTGTTTTGCAGAAAAACTG	0.532000													5	17					0.217242	0.218566	1	1	0
HTR1E	3354	broad.mit.edu	37	6	87725863	87725863	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:87725863G>T	ENST00000305344.4	+	2	1514	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	HTR1E_ENST00000369584.1_Missense_Mutation_p.D271Y	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	271					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	CTTCGACAATGATCTAGATCA	0.512000													40	107					2.87052e-16	4.2067e-16	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129581891	129581891	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:129581891A>G	ENST00000421865.2	+	15	2181	c.2132A>G	c.(2131-2133)tAt>tGt	p.Y711C		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	711	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCTGTCTCCTATCCTACTGAT	0.438000													37	81					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92592414	92592414	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:92592414G>C	ENST00000298047.6	+	20	11601	c.11584G>C	c.(11584-11586)Gct>Cct	p.A3862P	FAT3_ENST00000525166.1_Missense_Mutation_p.A3712P|FAT3_ENST00000409404.2_Missense_Mutation_p.A3862P|FAT3_ENST00000533797.1_Missense_Mutation_p.A197P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3862	Laminin G-like.				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)				TTTCAAACTAGCTCTGCGTCT	0.388000										TCGA Ovarian(4;0.039)			23	18					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55203962	55203962	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:55203962C>A	ENST00000392067.3	+	3	936	c.936C>A	c.(934-936)acC>acA	p.T312T	SAMD4A_ENST00000357634.3_Silent_p.T311T|SAMD4A_ENST00000251091.5_Intron|SAMD4A_ENST00000554335.1_Silent_p.T312T	NM_015589.5	NP_056404.4	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	312					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AAGATCAGACCACTGCTCGTA	0.517000													56	72					2.17126e-26	3.6623e-26	1	1	0
ZNF607	84775	broad.mit.edu	37	19	38200657	38200657	+	Missense_Mutation	SNP	C	C	A	rs142136563		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:38200657C>A	ENST00000355202.4	-	3	671	c.76G>T	c.(76-78)Gtt>Ttt	p.V26F	CTD-2528L19.4_ENST00000586606.2_Missense_Mutation_p.V26F|ZNF607_ENST00000395835.3_Missense_Mutation_p.V26F	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	26	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GTCTTCTGAACCAGGCTGAGA	0.413000													32	70					5.45727e-16	7.93493e-16	1	1	0
PRTG	283659	broad.mit.edu	37	15	55931849	55931849	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:55931849T>A	ENST00000389286.4	-	13	2362	c.2315A>T	c.(2314-2316)tAc>tTc	p.Y772F		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	772	Fibronectin type-III 4.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGTTTGAAGGTACAGAACCAA	0.488000													64	11					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24911637	24911637	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:24911637C>G	ENST00000313367.2	-	3	599	c.148G>C	c.(148-150)Gag>Cag	p.E50Q	OSBPL3_ENST00000396431.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E50Q|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E50Q|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E50Q	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	50					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACTGGTGGCTCCTGGGTGTAA	0.443000													25	62					0	0	1	0	0
SOST	50964	broad.mit.edu	37	17	41835995	41835995	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:41835995C>A	ENST00000301691.2	-	1	161	c.115G>T	c.(115-117)Gag>Tag	p.E39*		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	39					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TCTCCGAGCTCGGGGATGATT	0.632000													34	40					4.3181e-19	6.60834e-19	1	1	0
AXDND1	126859	broad.mit.edu	37	1	179460790	179460790	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:179460790C>A	ENST00000367618.3	+	19	2596	c.2209C>A	c.(2209-2211)Cat>Aat	p.H737N		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	737										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGCTGAGAAACATGATATAGG	0.413000													69	114					7.59065e-32	1.33804e-31	1	1	0
DPP6	1804	broad.mit.edu	37	7	154595626	154595626	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:154595626T>G	ENST00000404039.1	+	14	1855	c.1268T>G	c.(1267-1269)gTg>gGg	p.V423G	DPP6_ENST00000332007.3_Missense_Mutation_p.V425G|DPP6_ENST00000427557.1_Missense_Mutation_p.V380G|DPP6_ENST00000377770.3_Missense_Mutation_p.V487G	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	487					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACTGGGACGTGACCAAGATC	0.547000													10	8					0	0	1	0	0
HENMT1	113802	broad.mit.edu	37	1	109191484	109191484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:109191484C>A	ENST00000370032.5	-	8	1306	c.886G>T	c.(886-888)Gaa>Taa	p.E296*	HENMT1_ENST00000370031.1_Nonsense_Mutation_p.E327*|HENMT1_ENST00000402983.1_Nonsense_Mutation_p.E296*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	296					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						TCACCCCGTTCCCCAGCCTGT	0.507000													15	23					1.02788e-11	1.37731e-11	1	1	0
LAMTOR2	28956	broad.mit.edu	37	1	156027835	156027835	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:156027835G>T	ENST00000368305.4	+	3	436	c.298G>T	c.(298-300)Ggc>Tgc	p.G100C	LAMTOR2_ENST00000368302.3_Missense_Mutation_p.G100C|LAMTOR2_ENST00000368304.5_Intron	NM_014017.3	NP_054736.1	Q9Y2Q5	LTOR2_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 2	100					cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosomal membrane|Ragulator complex				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						GGAGACCGTGGGCTTTGGAAT	0.572000													15	74					2.23348e-06	2.60515e-06	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118989789	118989789	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:118989789C>T	ENST00000328252.3	+	6	2560	c.2191C>T	c.(2191-2193)Ccc>Tcc	p.P731S	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	731					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						CTCCCCAATGCCCTGCAGCCC	0.537000													11	38					0	0	1	0	0
APOL1	8542	broad.mit.edu	37	22	36661455	36661455	+	Silent	SNP	C	C	T	rs150846072	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:36661455C>T	ENST00000319136.4	+	7	888	c.621C>T	c.(619-621)ctC>ctT	p.L207L	APOL1_ENST00000397279.4_Silent_p.L191L|APOL1_ENST00000397278.3_Silent_p.L191L|APOL1_ENST00000426053.1_Silent_p.L173L|APOL1_ENST00000347595.7_Silent_p.L70L|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000422706.1_Silent_p.L191L	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	191					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding	p.I204fs*52(1)|p.L207L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTGACCCTCGTCGGCATGG	0.577000													8	114					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64597714	64597714	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:64597714C>A	ENST00000342711.5	-	29	3318	c.3319G>T	c.(3319-3321)Gcg>Tcg	p.A1107S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1107	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GTGCCAAGCGCAAGTCGATCc	0.632000													5	6					0.184627	0.18613	1	1	0
AJUBA	84962	broad.mit.edu	37	14	23450492	23450492	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:23450492T>A	ENST00000262713.2	-	1	1359	c.984A>T	c.(982-984)ccA>ccT	p.P328P	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Silent_p.P328P	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	328	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CCCTGGCCTCTGGCTCCCGCA	0.672000													44	51					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494984	161494984	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:161494984C>A	ENST00000309758.4	+	1	949	c.536C>A	c.(535-537)aCg>aAg	p.T179K		NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	179					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATGAGCCCACGGCAGCTGCC	0.647000													25	33					2.44723e-14	3.46342e-14	1	1	0
C19orf57	79173	broad.mit.edu	37	19	14006295	14006295	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:14006295G>C	ENST00000454313.1	-	3	154	c.96C>G	c.(94-96)ccC>ccG	p.P32P	C19orf57_ENST00000346736.2_Silent_p.P32P|C19orf57_ENST00000591586.1_Silent_p.P32P|C19orf57_ENST00000586783.1_Silent_p.P32P			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	32					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGGAACTCTGGGGGTCCCCAT	0.552000													140	42					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	105970514	105970514	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:105970514G>T	ENST00000255499.2	+	1	621	c.371G>T	c.(370-372)gGg>gTg	p.G124V	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	124	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAACGCGGCGGGGGCTGCACC	0.607000													23	13					2.52088e-20	3.9349e-20	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153245480	153245480	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:153245480C>A	ENST00000281708.4	-	11	2940	c.1711G>T	c.(1711-1713)Ggg>Tgg	p.G571W	FBXW7_ENST00000603548.1_Missense_Mutation_p.G571W|FBXW7_ENST00000603841.1_Missense_Mutation_p.G571W|FBXW7_ENST00000393956.3_Missense_Mutation_p.G395W|FBXW7_ENST00000296555.5_Missense_Mutation_p.G453W|FBXW7_ENST00000263981.5_Missense_Mutation_p.G491W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	571					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATGCAATTCCCTGTCTCCACA	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								22	26					7.45023e-12	1.00372e-11	1	1	0
AHDC1	27245	broad.mit.edu	37	1	27877071	27877071	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:27877071G>A	ENST00000374011.2	-	6	2524	c.1556C>T	c.(1555-1557)cCg>cTg	p.P519L	AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Missense_Mutation_p.P519L	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	519							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTTCAGCAGCGGGGTGGGCTC	0.607000													23	21					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436163	7436163	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:7436163G>T	ENST00000319098.4	-	1	537	c.444C>A	c.(442-444)gcC>gcA	p.A148A	SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron|SORCS2_ENST00000329016.9_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	148					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCCTCAGGGTGGCCAGGTGCC	0.667000													4	7					0.150653	0.152397	1	1	0
B3GAT1	27087	broad.mit.edu	37	11	134252717	134252717	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:134252717T>A	ENST00000524765.1	-	4	5349	c.805A>T	c.(805-807)Agc>Tgc	p.S269C	B3GAT1_ENST00000312527.4_Missense_Mutation_p.S269C|B3GAT1_ENST00000537389.1_Missense_Mutation_p.S282C|B3GAT1_ENST00000392580.1_Missense_Mutation_p.S269C			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	269					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		TAGGCCTGGCTTCGCTGCAGA	0.587000													14	18					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94159551	94159551	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:94159551A>G	ENST00000282020.4	+	8	1413	c.1155A>G	c.(1153-1155)ctA>ctG	p.L385L	GRID2_ENST00000510992.1_Silent_p.L290L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	385					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTGGAGAGCTAGAATTTGGAG	0.378000													39	33					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179632615	179632615	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:179632615A>G	ENST00000444136.1	+	16	2888	c.2638A>G	c.(2638-2640)Agg>Ggg	p.R880G	TDRD5_ENST00000367614.1_Missense_Mutation_p.R826G|TDRD5_ENST00000294848.8_Missense_Mutation_p.R826G	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	852					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGGCACAAACAGGACTCAAAA	0.383000													31	33					0	0	1	0	0
PTPRG	5793	broad.mit.edu	37	3	61734634	61734634	+	Silent	SNP	C	C	T	rs150368253		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:61734634C>T	ENST00000474889.1	+	2	545	c.168C>T	c.(166-168)ggC>ggT	p.G56G	PTPRG_ENST00000295874.10_Silent_p.G56G|PTPRG_ENST00000495879.1_3'UTR	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	56					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AGGCTTCAGGCGACCCGTACT	0.532000													15	7					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52336197	52336197	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:52336197T>A	ENST00000356297.4	-	14	1833	c.1733A>T	c.(1732-1734)tAt>tTt	p.Y578F	PXDNL_ENST00000543296.1_Missense_Mutation_p.Y578F	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	578	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.Y578C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CACACATTCATATCTTCCCTG	0.468000													20	9					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3626627	3626627	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:3626627C>A	ENST00000429344.2	-	1	186	c.134G>T	c.(133-135)cGg>cTg	p.R45L	CACTIN_ENST00000221899.3_5'UTR|CACTIN_ENST00000248420.5_Missense_Mutation_p.R45L	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CCGTCTGCGCCGTCCCTCGTC	0.756000													2	0					1	1	1	1	0
ZSCAN10	84891	broad.mit.edu	37	16	3139854	3139854	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:3139854G>T	ENST00000252463.2	-	5	1503	c.1416C>A	c.(1414-1416)tgC>tgA	p.C472*	ZSCAN10_ENST00000538082.2_Nonsense_Mutation_p.C390*|ZSCAN10_ENST00000575108.1_Nonsense_Mutation_p.C133*	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	472					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AGGCCTTGCCGCAGTCGCTGC	0.736000													4	2					0.00909568	0.00946511	1	1	0
C20orf194	25943	broad.mit.edu	37	20	3251131	3251131	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:3251131T>C	ENST00000252032.9	-	30	2795	c.2728A>G	c.(2728-2730)Atc>Gtc	p.I910V	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	910										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						GCAGCCCTGATGAGGCTCTGC	0.512000													14	37					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107080753	107080753	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:107080753G>C	ENST00000392842.1	+	6	883	c.469G>C	c.(469-471)Ggc>Cgc	p.G157R	RFX4_ENST00000229387.5_Missense_Mutation_p.G63R|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.G166R	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	157					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGTGAGACGGGCAAGAAAGA	0.473000													56	74					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70751764	70751764	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:70751764G>T	ENST00000358731.4	+	1	323	c.60G>T	c.(58-60)agG>agT	p.R20S	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	20	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGCGCCAGGGGCTCCACAG	0.697000													10	16					4.68919e-08	5.78268e-08	1	1	0
FBXW7	55294	broad.mit.edu	37	4	153303400	153303400	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:153303400C>G	ENST00000296555.5	-	1	267	c.88G>C	c.(88-90)Gtg>Ctg	p.V30L	FBXW7_ENST00000281708.4_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000603841.1_Intron	NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	0					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCTTCATCACAGTTTGATGT	0.383000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								19	50					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493205	3493205	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:3493205G>A	ENST00000174621.6	-	5	1223	c.934C>T	c.(934-936)Ctg>Ttg	p.L312L	SHPK_ENST00000572705.1_Silent_p.L314L|TRPV1_ENST00000399759.3_Silent_p.L314L|TRPV1_ENST00000576351.1_Silent_p.L314L|TRPV1_ENST00000310522.5_Silent_p.L314L|TRPV1_ENST00000399756.4_Silent_p.L314L|TRPV1_ENST00000571088.1_Silent_p.L314L|TRPV1_ENST00000425167.2_Silent_p.L314L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	314					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCAGCATCAGAATCTCATTG	0.607000													5	2					0	0	1	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453822	100453822	+	Splice_Site	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:100453822C>T	ENST00000279907.7	-	13	1762		c.e13-1		UHRF1BP1L_ENST00000545232.2_Splice_Site	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GGAGATGGAACTGTGGAGACA	0.323000													26	28					0	0	1	0	0
LOC100505782	100505782	broad.mit.edu	37	17	39567645	39567645	+	RNA	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39567645C>T	ENST00000432258.1	+	0	2103				AC003958.2_ENST00000430006.1_RNA																							CTGGTAGTTTCGGCACACGCT	0.572000													14	13					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73915849	73915849	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:73915849C>G	ENST00000586717.1	-	19	2269	c.1996G>C	c.(1996-1998)Gaa>Caa	p.E666Q	FBF1_ENST00000389570.4_Missense_Mutation_p.E666Q|FBF1_ENST00000319129.5_Missense_Mutation_p.E665Q			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	665										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CGGGCCTGTTCGGCCTCCTGG	0.637000													15	60					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31142903	31142903	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:31142903A>T	ENST00000304166.4	+	14	1388	c.1099A>T	c.(1099-1101)Aca>Tca	p.T367S	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.T395S|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.T423S|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.T346S	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	367					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						AATCCACTACACAGTATTTGC	0.572000													13	164					0	0	1	0	0
KCNN4	3783	broad.mit.edu	37	19	44280783	44280783	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:44280783C>T	ENST00000262888.3	-	2	560	c.165G>A	c.(163-165)gcG>gcA	p.A55A		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	55					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	ACAGGTAGAGCGCCCACTGTC	0.532000													6	30					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131559	142131559	+	RNA	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142131559A>C	ENST00000390375.2	-	0	236																											TAATACTGAAAGATAAACTGG	0.512000													67	63					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71009791	71009791	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:71009791A>T	ENST00000357250.6	-	4	412	c.254T>A	c.(253-255)gTg>gAg	p.V85E	COL9A1_ENST00000370496.3_Missense_Mutation_p.V85E	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	85	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTGTAAGCCACCTGCAATGT	0.368000													13	30					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57193805	57193805	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:57193805T>A	ENST00000331162.4	-	4	452	c.182A>T	c.(181-183)aAg>aTg	p.K61M		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CAAGTCTGGCTTAGAGACAGC	0.353000													44	129					0	0	1	0	0
FDFT1	2222	broad.mit.edu	37	8	11667314	11667314	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:11667314G>A	ENST00000220584.4	+	3	558	c.336G>A	c.(334-336)atG>atA	p.M112I	FDFT1_ENST00000530664.1_Missense_Mutation_p.M48I|FDFT1_ENST00000528643.1_Missense_Mutation_p.M27I|FDFT1_ENST00000525900.1_Missense_Mutation_p.M105I|FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000538689.1_Start_Codon_SNP_p.M1I|FDFT1_ENST00000525777.1_Missense_Mutation_p.M27I|FDFT1_ENST00000528812.1_Missense_Mutation_p.M48I|FDFT1_ENST00000443614.2_Missense_Mutation_p.M112I	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	112					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		GGCGGTTCATGGAGAGCAAGG	0.498000													14	33					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142569573	142569573	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142569573A>T	ENST00000359396.3	-	15	2310	c.2065T>A	c.(2065-2067)Tcc>Acc	p.S689T		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	689					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGCTGCGGGAGGTACTTCGA	0.577000													33	52					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92671693	92671693	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:92671693G>A	ENST00000318445.6	+	7	1700	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	SLCO3A1_ENST00000424469.2_Missense_Mutation_p.A496T|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	496	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTACCTGTCTGCCTGCTTTGC	0.552000													30	36					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34806022	34806022	+	Silent	SNP	C	C	A	rs141701592		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:34806022C>A	ENST00000374789.3	-	3	613	c.288G>T	c.(286-288)acG>acT	p.T96T	PARD3_ENST00000374788.3_Silent_p.T96T|PARD3_ENST00000350537.4_Silent_p.T96T|PARD3_ENST00000374794.3_Silent_p.T96T|PARD3_ENST00000340077.5_Silent_p.T96T|PARD3_ENST00000374773.1_Silent_p.T96T|PARD3_ENST00000545693.1_Silent_p.T96T|PARD3_ENST00000374790.3_Silent_p.T96T|PARD3_ENST00000545260.1_Silent_p.T96T|PARD3_ENST00000374776.1_Silent_p.T96T|PARD3_ENST00000346874.4_Silent_p.T96T	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	96					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TCTGGGTACCCGTGGAACTGG	0.468000													13	55					1.05317e-09	1.35382e-09	1	1	0
SBSN	374897	broad.mit.edu	37	19	36018920	36018920	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:36018920C>G	ENST00000452271.2	-	1	292	c.264G>C	c.(262-264)caG>caC	p.Q88H	SBSN_ENST00000518157.1_Missense_Mutation_p.Q88H	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	88	Ala/Gly/His-rich.					extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGTTGAGCCCCTGGACGCCTT	0.547000													181	201					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716728	13716728	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:13716728G>T	ENST00000279593.3	-	13	3653	c.3444C>A	c.(3442-3444)caC>caA	p.H1148Q		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1148					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCAGGTCTACGTGCTCCCAGT	0.577000													22	6					5.26018e-13	7.27128e-13	1	1	0
OR4A5	81318	broad.mit.edu	37	11	51412048	51412048	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:51412048C>T	ENST00000319760.6	-	1	400	c.348G>A	c.(346-348)atG>atA	p.M116I		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GATCACAGGCCATCACCACCA	0.468000													21	19					0	0	1	0	0
USP48	84196	broad.mit.edu	37	1	22028008	22028008	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:22028008C>A	ENST00000308271.9	-	22	3358	c.2710G>T	c.(2710-2712)Gat>Tat	p.D904Y	USP48_ENST00000400301.1_Missense_Mutation_p.D904Y|USP48_ENST00000529637.1_Missense_Mutation_p.D916Y|USP48_ENST00000374732.3_Missense_Mutation_p.D442Y	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	904					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		AAATCTGGATCTTTTTCTCCA	0.443000													12	35					0.00136819	0.00146269	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19183811	19183811	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:19183811C>T	ENST00000263200.10	-	26	4229	c.4157G>A	c.(4156-4158)tGg>tAg	p.W1386*	CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.W1386*|CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.W1386*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1386	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACCCTCCTTCCAGGCCTCAGT	0.572000			T	?	ALCL								28	26					0	0	1	0	0
NELFCD	51497	broad.mit.edu	37	20	57567018	57567018	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:57567018A>G	ENST00000602795.1	+	10	1274	c.1226A>G	c.(1225-1227)gAg>gGg	p.E409G	NELFCD_ENST00000479207.1_3'UTR|NELFCD_ENST00000344018.3_Missense_Mutation_p.E400G					negative elongation factor complex member C/D																		TGTTGCAACGAGAACAAAGGG	0.418000													37	28					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86919206	86919206	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:86919206T>A	ENST00000370565.4	+	13	2472	c.2310T>A	c.(2308-2310)atT>atA	p.I770I	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	770					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCAAAATTATTGACCTGGAAG	0.498000													32	43					0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53612319	53612319	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:53612319G>T	ENST00000455735.2	-	7	1443	c.1123C>A	c.(1123-1125)Cct>Act	p.P375T	ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000448501.1_Missense_Mutation_p.P375T|ZNF415_ENST00000421033.1_Missense_Mutation_p.P339T|ZNF415_ENST00000243643.4_Missense_Mutation_p.P327T|ZNF415_ENST00000500065.4_Missense_Mutation_p.P327T|ZNF415_ENST00000601493.1_Missense_Mutation_p.P97T|ZNF415_ENST00000440291.1_Missense_Mutation_p.P314T|ZNF415_ENST00000595193.1_3'UTR			Q09FC8	ZN415_HUMAN	zinc finger protein 415	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		CATGTGTAAGGTTTCTCTCCA	0.398000													38	26					1.90571e-15	2.74673e-15	1	1	0
DLL3	10683	broad.mit.edu	37	19	39989984	39989984	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:39989984G>A	ENST00000205143.4	+	2	229	c.222G>A	c.(220-222)gaG>gaA	p.E74E	DLL3_ENST00000356433.5_Silent_p.E74E|DLL3_ENST00000600579.1_3'UTR	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	74					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGCCGCCGAGTCCCCGTGCG	0.756000													9	7					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566043	142566043	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142566043T>C	ENST00000392957.2	+	14	2750	c.1963T>C	c.(1963-1965)Tgt>Cgt	p.C655R	EPHB6_ENST00000411471.2_Missense_Mutation_p.C378R|EPHB6_ENST00000442129.1_Missense_Mutation_p.C655R	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	655						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGAGGACCCCTGTCAGGCCAT	0.562000													31	47					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14106295	14106295	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:14106295C>G	ENST00000235372.7	+	8	2861	c.2005C>G	c.(2005-2007)Ctt>Gtt	p.L669V	PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L468V|PRDM2_ENST00000311066.5_Missense_Mutation_p.L669V|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L468V	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	669						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAGTCTTCCTCTTAGCATATC	0.453000													16	44					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604684	160604684	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:160604684T>A	ENST00000302035.6	-	3	768	c.419A>T	c.(418-420)cAg>cTg	p.Q140L	SLAMF1_ENST00000355199.3_Missense_Mutation_p.Q140L|SLAMF1_ENST00000235739.5_Missense_Mutation_p.Q140L|SLAMF1_ENST00000538290.1_Missense_Mutation_p.Q140L	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	140					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AGTGGAGACCTGCTCTGTCAG	0.498000													32	32					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1090898	1090898	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:1090898C>T	ENST00000441003.2	+	28	3820	c.3793C>T	c.(3793-3795)Ctg>Ttg	p.L1265L	MUC2_ENST00000359061.5_Silent_p.L1266L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1265						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)	CCCGTCCACCCTGaccacctt	0.627000													7	13					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38122186	38122186	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:38122186G>T	ENST00000406386.3	+	7	3878	c.3623G>T	c.(3622-3624)gGc>gTc	p.G1208V	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1208					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCTCTGCATGGCTCCCCAGTG	0.652000													34	14					6.70999e-13	9.21538e-13	1	1	0
SEMA3D	223117	broad.mit.edu	37	7	84727204	84727204	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:84727204C>G	ENST00000284136.6	-	2	272	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	SEMA3D_ENST00000444867.1_Missense_Mutation_p.E77Q	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	77	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCTCTTTCCTCATCTAAGAGA	0.368000													84	43					0	0	1	0	0
RAB9BP1	9366	broad.mit.edu	37	5	104435558	104435558	+	RNA	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:104435558G>C	ENST00000522464.1	-	0	68				RP11-6N13.1_ENST00000503650.1_lincRNA																							GACTGACAGTGAACAGCAGGT	0.428000													24	26					0	0	1	0	0
FBXL4	26235	broad.mit.edu	37	6	99323339	99323339	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:99323339C>G	ENST00000369244.2	-	9	2082	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	FBXL4_ENST00000229971.1_Missense_Mutation_p.D552H			Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	552					ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GCCAATTCATCAATGTCTGTG	0.408000													21	31					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26856037	26856037	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:26856037A>T	ENST00000376236.4	+	15	2076	c.1621A>T	c.(1621-1623)Aca>Tca	p.T541S	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	541	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GGCCAAGGGCACAGGCGGCGG	0.796000													5	1					0	0	1	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15871632	15871632	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:15871632C>A	ENST00000595525.1	+	0	448				CYP4F24P_ENST00000587443.2_RNA																							TACCTGGGTCCCGCAGAGAAG	0.557000													57	18					1.13205e-32	2.00503e-32	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113650967	113650967	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:113650967C>T	ENST00000297405.5	-	21	3728	c.3484G>A	c.(3484-3486)Gat>Aat	p.D1162N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D1058N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1162N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D1122N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1162	CUB 6.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTGAAAAATCTGAAATGAAA	0.353000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	49					0	0	1	0	0
CNKSR3	154043	broad.mit.edu	37	6	154763227	154763227	+	Silent	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:154763227C>G	ENST00000607772.1	-	3	958	c.414G>C	c.(412-414)ctG>ctC	p.L138L	CNKSR3_ENST00000479339.1_Silent_p.L58L	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	138	CRIC.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CTTACCGGTCCAGCCACGCCA	0.567000													22	24					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65826401	65826401	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:65826401G>T	ENST00000528302.1	+	9	1070	c.1016G>T	c.(1015-1017)cGg>cTg	p.R339L	SF3B2_ENST00000322535.6_Missense_Mutation_p.R356L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	356					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GACTCAACCCGGTCCCGTGGC	0.512000													26	43					4.72057e-08	5.81656e-08	1	1	0
PSG5	5673	broad.mit.edu	37	19	43689065	43689065	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:43689065G>T	ENST00000404580.1	-	2	387	c.299C>A	c.(298-300)aCa>aAa	p.T100K	PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000366175.3_Missense_Mutation_p.T100K|PSG5_ENST00000342951.6_Missense_Mutation_p.T100K|PSG5_ENST00000599812.1_Missense_Mutation_p.T100K|PSG5_ENST00000407568.1_Missense_Mutation_p.T100K|PSG5_ENST00000407356.1_Missense_Mutation_p.T100K			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	100	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GGAATATACTGTTTCTCGTCC	0.438000													379	77					6.28522e-213	1.20049e-212	1	1	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657087	72657087	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:72657087G>T	ENST00000425256.1	-	0	2824					NR_002164.1																						tgtagtcccagctgctcggga	0.572000													4	1					0.000602214	0.000653205	1	1	0
AKR1B1	231	broad.mit.edu	37	7	134136347	134136347	+	Silent	SNP	G	G	A	rs115549384	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:134136347G>A	ENST00000285930.4	-	2	304	c.225C>T	c.(223-225)atC>atT	p.I75I	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	75					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	CCTTGCTGACGATGAAGAGCT	0.562000													10	78					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131704165	131704165	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:131704165G>A	ENST00000409359.1	+	4	4150	c.2952G>A	c.(2950-2952)acG>acA	p.T984T	ARHGEF4_ENST00000525839.1_Silent_p.T128T|ARHGEF4_ENST00000392953.3_Silent_p.T128T|ARHGEF4_ENST00000409303.1_Silent_p.T128T|ARHGEF4_ENST00000428230.2_Silent_p.T128T|ARHGEF4_ENST00000326016.5_Silent_p.T128T			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GTGCTCCAACGGGACTGAACC	0.527000													63	20					0	0	1	0	0
VAX1	11023	broad.mit.edu	37	10	118897451	118897451	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:118897451G>T	ENST00000277905.2	-	1	361	c.117C>A	c.(115-117)ctC>ctA	p.L39L	VAX1_ENST00000369206.5_Silent_p.L39L	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	39						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		AGGCGGCTGGGAGGTTCCCCT	0.622000													30	10					1.13719e-10	1.49018e-10	1	1	0
CXorf66	347487	broad.mit.edu	37	X	139038282	139038282	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:139038282A>T	ENST00000370540.1	-	3	882	c.859T>A	c.(859-861)Tct>Act	p.S287T		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	287						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTGCCTCAGAAATATCATTG	0.388000													86	15					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333280	70333280	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:70333280A>T	ENST00000373644.4	+	2	1394	c.1185A>T	c.(1183-1185)ctA>ctT	p.L395L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	395					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCCCAGATCTACCAGAGATTC	0.507000													80	125					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153245479	153245479	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:153245479C>A	ENST00000281708.4	-	11	2941	c.1712G>T	c.(1711-1713)gGg>gTg	p.G571V	FBXW7_ENST00000603548.1_Missense_Mutation_p.G571V|FBXW7_ENST00000603841.1_Missense_Mutation_p.G571V|FBXW7_ENST00000393956.3_Missense_Mutation_p.G395V|FBXW7_ENST00000296555.5_Missense_Mutation_p.G453V|FBXW7_ENST00000263981.5_Missense_Mutation_p.G491V	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	571					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGCAATTCCCTGTCTCCAC	0.398000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								21	26					3.51602e-12	4.76715e-12	1	1	0
LILRB5	10990	broad.mit.edu	37	19	54758764	54758764	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:54758764G>T	ENST00000450632.1	-	6	1139	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	LILRB5_ENST00000316219.5_Silent_p.P363P|LILRB5_ENST00000449561.2_Silent_p.P363P|LILRB5_ENST00000345866.6_Silent_p.P263P			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	363	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACACAGCGGGGGATGGGCTG	0.547000													65	10					4.73848e-44	8.71458e-44	1	1	0
ZNF34	80778	broad.mit.edu	37	8	145999668	145999668	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:145999668T>C	ENST00000429371.2	-	6	756	c.603A>G	c.(601-603)acA>acG	p.T201T	ZNF34_ENST00000343459.4_Silent_p.T222T	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GAACTGTATTTGTTTTTTTTG	0.353000													42	13					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115423621	115423621	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:115423621A>G	ENST00000369358.4	-	1	265	c.21T>C	c.(19-21)tcT>tcC	p.S7S	NRAP_ENST00000360478.3_Silent_p.S7S|NRAP_ENST00000369360.3_Silent_p.S7S|NRAP_ENST00000359988.3_Silent_p.S7S			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	7	LIM zinc-binding.					fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ACCCACACCTAGAACAGGGCT	0.453000													27	10					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100190915	100190915	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:100190915G>A	ENST00000355295.4	+	2	463	c.168G>A	c.(166-168)gtG>gtA	p.V56V	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	56	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				TGAGAAGTGTGCCAGCAGTGG	0.478000													15	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237868566	237868566	+	Missense_Mutation	SNP	T	T	C	rs144672421	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:237868566T>C	ENST00000366574.2	+	67	9820	c.9503T>C	c.(9502-9504)gTa>gCa	p.V3168A	RYR2_ENST00000542537.1_Missense_Mutation_p.V3152A|RYR2_ENST00000360064.6_Missense_Mutation_p.V3166A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3168					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTTTCCTGTAGCATTTTTG	0.398000													3	15					0	0	1	0	0
TRBV19	28568	broad.mit.edu	37	7	142326756	142326756	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142326756C>A	ENST00000390393.3	+	0	262																											TTCCAGACACCGTGGATGGTG	0.522000													50	57					1.86633e-21	2.963e-21	1	1	0
KRT3	3850	broad.mit.edu	37	12	53188083	53188083	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:53188083C>T	ENST00000417996.2	-	2	752	c.678G>A	c.(676-678)ctG>ctA	p.L226L	KRT3_ENST00000309505.3_Silent_p.L226L	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	226	Coil 1A.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						ACTTGGTCTCCAGGACTTTGT	0.527000													38	59					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1247900	1247900	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:1247900C>A	ENST00000447027.1	+	4	313	c.255C>A	c.(253-255)taC>taA	p.Y85*	MUC5B_ENST00000529681.1_Nonsense_Mutation_p.Y85*			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	85	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTTCCACTACAAGACCTTCG	0.647000													9	7					1.58986e-06	1.8632e-06	1	1	0
CD96	10225	broad.mit.edu	37	3	111317006	111317006	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:111317006G>A	ENST00000352690.4	+	6	1087	c.847G>A	c.(847-849)Gca>Aca	p.A283T	CD96_ENST00000283285.5_Missense_Mutation_p.A299T|CD96_ENST00000438817.2_Missense_Mutation_p.A283T	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	299	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATTTCCCAAAGCAAATATCAC	0.318000									Opitz Trigonocephaly syndrome				49	93					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306919	120306919	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:120306919G>T	ENST00000369406.3	-	2	484	c.435C>A	c.(433-435)ctC>ctA	p.L145L	HMGCS2_ENST00000544913.2_Silent_p.L145L|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	145					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AGAGTTCCATGAGCACTGTTT	0.517000													14	49					3.27435e-08	4.05474e-08	1	1	0
MUC16	94025	broad.mit.edu	37	19	9047942	9047942	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:9047942C>A	ENST00000397910.4	-	5	33892	c.33689G>T	c.(33688-33690)aGt>aTt	p.S11230I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11232	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						CTCTGGTTGACTTGAGGCAAC	0.483000													20	7					5.03518e-11	6.65683e-11	1	1	0
IPPK	64768	broad.mit.edu	37	9	95411781	95411781	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:95411781G>A	ENST00000287996.3	-	5	644	c.368C>T	c.(367-369)aCc>aTc	p.T123I		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	123					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						AAAGCGGTAGGTTTGGAGTCT	0.517000													11	36					0	0	1	0	0
QRSL1	55278	broad.mit.edu	37	6	107100441	107100441	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:107100441G>T	ENST00000369046.4	+	7	937	c.833G>T	c.(832-834)tGt>tTt	p.C278F	QRSL1_ENST00000369044.1_Missense_Mutation_p.C278F	NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	278					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AGCAAACTATGTATAGGAATT	0.448000													10	43					7.48243e-07	8.93083e-07	1	1	0
HIVEP3	59269	broad.mit.edu	37	1	41976631	41976631	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:41976631C>A	ENST00000372584.1	-	8	7723	c.6709G>T	c.(6709-6711)Gcc>Tcc	p.A2237S	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A2238S|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A2237S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A2238S|HIVEP3_ENST00000460604.1_5'UTR	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2238					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTCCTGGGCCTCCCGGGCC	0.701000													46	30					4.44401e-20	6.90052e-20	1	1	0
SP140L	93349	broad.mit.edu	37	2	231264874	231264874	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:231264874G>T	ENST00000243810.6	+	15	1230	c.1230G>T	c.(1228-1230)cgG>cgT	p.R410R	SP140L_ENST00000415673.2_Silent_p.R410R|SP140L_ENST00000396563.4_Silent_p.R375R|SP140L_ENST00000444636.1_Silent_p.R410R			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	410						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AGGTGTGCCGGGACGGAGGGG	0.522000													27	56					7.26314e-15	1.03381e-14	1	1	0
RYR1	6261	broad.mit.edu	37	19	38976770	38976770	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:38976770C>A	ENST00000355481.4	+	34	5606	c.5475C>A	c.(5473-5475)caC>caA	p.H1825Q	RYR1_ENST00000360985.3_Missense_Mutation_p.H1825Q|RYR1_ENST00000359596.3_Missense_Mutation_p.H1825Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1825	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGGGCAGCACGCTCGCGACC	0.687000													88	96					7.63117e-38	1.37454e-37	1	1	0
SEMA5B	54437	broad.mit.edu	37	3	122630826	122630826	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:122630826G>C	ENST00000195173.4	-	20	3284	c.2981C>G	c.(2980-2982)tCc>tGc	p.S994C	SEMA5B_ENST00000451055.2_Missense_Mutation_p.S1050C|SEMA5B_ENST00000357599.3_Missense_Mutation_p.S996C			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	996	TSP type-1 5.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		ACAGGCGCTGGACCCTGGGAG	0.657000													11	15					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789582	6789582	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:6789582C>A	ENST00000338569.2	-	1	704	c.607G>T	c.(607-609)Ggt>Tgt	p.G203C		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AAAGTCACACCTGTCACGTAT	0.493000													19	25					6.94344e-10	8.97214e-10	1	1	0
MATN3	4148	broad.mit.edu	37	2	20202957	20202957	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:20202957C>T	ENST00000407540.3	-	3	943	c.881G>A	c.(880-882)gGa>gAa	p.G294E	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Intron	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	294	EGF-like 1.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGGTGTATCCTTGGCTACA	0.542000													33	29					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100374055	100374055	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:100374055A>G	ENST00000262233.6	+	10	1228	c.1089A>G	c.(1087-1089)aaA>aaG	p.K363K	EML1_ENST00000327921.9_Silent_p.K351K|EML1_ENST00000334192.4_Silent_p.K382K	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	363						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAGAAGAAAAACTAGCAGATG	0.483000													9	55					0	0	1	0	0
ACSL6	23305	broad.mit.edu	37	5	131329896	131329896	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:131329896C>A	ENST00000379264.2	-	2	206	c.98G>T	c.(97-99)aGg>aTg	p.R33M	ACSL6_ENST00000379246.1_Missense_Mutation_p.R19M|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000544770.1_De_novo_Start_InFrame|ACSL6_ENST00000379255.1_Missense_Mutation_p.R8M|ACSL6_ENST00000296869.4_Missense_Mutation_p.R33M|ACSL6_ENST00000431707.1_Missense_Mutation_p.R8M|ACSL6_ENST00000379272.2_Missense_Mutation_p.R8M|ACSL6_ENST00000379244.1_Missense_Mutation_p.R8M|ACSL6_ENST00000379240.1_Missense_Mutation_p.R8M|ACSL6_ENST00000357096.1_Missense_Mutation_p.R8M|ACSL6_ENST00000379249.3_Missense_Mutation_p.R8M|ACSL6_ENST00000543479.1_Missense_Mutation_p.R8M	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	8					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCGCAGTATCCTCAGGATCTC	0.552000													10	8					0.000442599	0.00048325	1	1	0
ITGA7	3679	broad.mit.edu	37	12	56094902	56094902	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:56094902C>A	ENST00000257880.7	-	4	670	c.451G>T	c.(451-453)Gac>Tac	p.D151Y	ITGA7_ENST00000394230.2_Missense_Mutation_p.D151Y|ITGA7_ENST00000347027.6_Missense_Mutation_p.D151Y|ITGA7_ENST00000555728.1_Missense_Mutation_p.D151Y|ITGA7_ENST00000553804.1_Missense_Mutation_p.D151Y|ITGA7_ENST00000452168.2_Missense_Mutation_p.D54Y|ITGA7_ENST00000257879.6_Missense_Mutation_p.D151Y|ITGA7_ENST00000394229.2_Missense_Mutation_p.D151Y			Q13683	ITA7_HUMAN	integrin, alpha 7	151					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGGATCTGGTCCACTCGCTGC	0.587000													24	34					2.39556e-15	3.43943e-15	1	1	0
NOVA1	4857	broad.mit.edu	37	14	26917816	26917816	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:26917816A>T	ENST00000539517.2	-	5	1190	c.873T>A	c.(871-873)caT>caA	p.H291Q	NOVA1_ENST00000465357.2_Missense_Mutation_p.H267Q|NOVA1_ENST00000267422.7_Missense_Mutation_p.H169Q	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	294	Ala-rich.				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		CAAGGTTAGCATGTCCTAATA	0.502000													38	56					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133806683	133806683	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:133806683C>A	ENST00000395386.2	+	3	410	c.111C>A	c.(109-111)gaC>gaA	p.D37E	PHF20L1_ENST00000395383.1_Missense_Mutation_p.D37E|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395379.1_Missense_Mutation_p.D37E|PHF20L1_ENST00000395376.1_Missense_Mutation_p.D37E|PHF20L1_ENST00000337920.4_Missense_Mutation_p.D37E|PHF20L1_ENST00000395390.2_Missense_Mutation_p.D37E|PHF20L1_ENST00000315808.10_Missense_Mutation_p.D37E|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	37	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AAAAAATTGACTATGAGGAGG	0.358000													68	34					1.84395e-34	3.2855e-34	1	1	0
OR10W1	81341	broad.mit.edu	37	11	58035060	58035060	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:58035060G>T	ENST00000395079.2	-	1	672	c.271C>A	c.(271-273)Cag>Aag	p.Q91K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AAAGCCATCTGGGTGGCACAG	0.547000													16	24					1.3612e-06	1.60536e-06	1	1	0
C1orf168	199920	broad.mit.edu	37	1	57185863	57185863	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:57185863C>T	ENST00000343433.6	-	18	2194	c.2114G>A	c.(2113-2115)cGt>cAt	p.R705H		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	705										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTTAGAATTACGACATATCAC	0.264000													26	27					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	12956886	12956886	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:12956886C>A	ENST00000276297.4	-	9	3369	c.2960G>T	c.(2959-2961)gGg>gTg	p.G987V	DLC1_ENST00000512044.2_Missense_Mutation_p.G584V|DLC1_ENST00000520226.1_Missense_Mutation_p.G476V|DLC1_ENST00000358919.2_Missense_Mutation_p.G550V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	987					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGCCCCAACCCCAGAATCCCT	0.577000													31	19					5.77227e-19	8.80657e-19	1	1	0
ZNF98	148198	broad.mit.edu	37	19	22586284	22586284	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:22586284C>G	ENST00000357774.5	-	2	182	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	ZNF98_ENST00000601553.1_Missense_Mutation_p.E21Q	NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				AGAGAGAATTCTAAGGCCACA	0.403000													80	25					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037735	148037735	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:148037735C>T	ENST00000370460.2	+	11	2639	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	AFF2_ENST00000286437.5_Silent_p.S361S|AFF2_ENST00000370457.5_Silent_p.S687S|AFF2_ENST00000342251.3_Silent_p.S687S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	720					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CATCTGACTCCAACACAGATC	0.478000													13	95					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174688	140174688	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140174688C>G	ENST00000526136.1	+	1	139	c.139C>G	c.(139-141)Cgc>Ggc	p.R47G	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R47G|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R47G	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGTGGGCCGCATCGCGCA	0.677000													54	22					0	0	1	0	0
C16orf86	388284	broad.mit.edu	37	16	67702446	67702446	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:67702446G>C	ENST00000403458.4	+	4	1052	c.897G>C	c.(895-897)aaG>aaC	p.K299N		NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	299										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		ACATCGACAAGATGCTGAGTG	0.617000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	7					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	64025368	64025368	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:64025368C>T	ENST00000392769.2	-	14	1594	c.1376G>A	c.(1375-1377)cGt>cAt	p.R459H	CEP112_ENST00000537949.1_Missense_Mutation_p.R417H|CEP112_ENST00000541355.1_Missense_Mutation_p.R94H|CEP112_ENST00000535342.2_Missense_Mutation_p.R459H	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	459						centrosome		p.R459H(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						CAGTGTGTTACGCCTAAAAAC	0.279000													14	84					0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821254	5821254	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:5821254G>T	ENST00000381095.3	-	5	2092	c.1465C>A	c.(1465-1467)Cat>Aat	p.H489N	NLGN4X_ENST00000275857.6_Missense_Mutation_p.H489N|NLGN4X_ENST00000381092.1_Missense_Mutation_p.H489N|NLGN4X_ENST00000381093.2_Missense_Mutation_p.H509N|NLGN4X_ENST00000538097.1_Missense_Mutation_p.H489N	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	489					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TCATCACCATGGGCCGAATCT	0.572000													16	17					2.31682e-05	2.62408e-05	1	1	0
KRT20	54474	broad.mit.edu	37	17	39038822	39038822	+	Splice_Site	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39038822A>T	ENST00000167588.3	-	2	515		c.e2+1			NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20						apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TAGGGAACCTACTTCAGTCTG	0.408000													35	45					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105396326	105396326	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:105396326C>A	ENST00000540372.1	+	6	814	c.622C>A	c.(622-624)Cga>Aga	p.R208R	PLD4_ENST00000392593.4_Silent_p.R201R			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	201					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)	TGCCCATGTACGACAGGTGCC	0.557000													49	52					3.21987e-24	5.31046e-24	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139180138	139180138	+	Splice_Site	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:139180138C>T	ENST00000395297.1	-	12	1428	c.1258_splice	c.e12+1	p.G420_splice		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	420										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACAGACAAACCTGTCGCAGGG	0.502000										HNSCC(54;0.14)			26	104					0	0	1	0	0
KDM4D	55693	broad.mit.edu	37	11	94731955	94731955	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:94731955G>T	ENST00000335080.5	+	3	2251	c.1419G>T	c.(1417-1419)agG>agT	p.R473S	KDM4D_ENST00000536741.1_Missense_Mutation_p.R473S	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	473					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			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAGCCAAGAGGCCCCTCTTGG	0.602000													13	52					1.05317e-09	1.35382e-09	1	1	0
TFPI	7035	broad.mit.edu	37	2	188361770	188361770	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:188361770A>G	ENST00000233156.3	-	3	451	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|TFPI_ENST00000339091.4_Missense_Mutation_p.F53L|TFPI_ENST00000392365.1_Missense_Mutation_p.F53L|TFPI_ENST00000409676.1_Missense_Mutation_p.F53L	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	53					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	AATGCACAAAATGAATGCATA	0.333000													23	37					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158622410	158622410	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:158622410G>T	ENST00000368148.3	-	23	3402	c.3222C>A	c.(3220-3222)cgC>cgA	p.R1074R	SPTA1_ENST00000368147.3_Silent_p.R1074R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1074					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GACGACGTCTGCGTTCTTCTG	0.438000													26	58					1.85244e-09	2.36896e-09	1	1	0
CACNG5	27091	broad.mit.edu	37	17	64881147	64881147	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:64881147G>T	ENST00000533854.1	+	6	855	c.618G>T	c.(616-618)gcG>gcT	p.A206A	CACNG5_ENST00000307139.3_Silent_p.A206A			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	206				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			GGTACACCGCGGAGGACATGT	0.612000													21	72					8.34094e-07	9.88408e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179571218	179571218	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179571218C>T	ENST00000589042.1	-	102	29607	c.29383G>A	c.(29383-29385)Gag>Aag	p.E9795K	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E8551K|TTN_ENST00000591111.1_Missense_Mutation_p.E9478K|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9478	Ig-like 79.						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)			TCAATTTTCTCTTGTTTCTTC	0.388000													38	31					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167719496	167719496	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:167719496A>T	ENST00000230256.3	+	6	1109	c.934A>T	c.(934-936)Aag>Tag	p.K312*	UNC93A_ENST00000366829.2_Nonsense_Mutation_p.K270*	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	312						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GTTGTATGGAAAGGTCTCGCA	0.577000													48	52					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134583196	134583196	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:134583196G>T	ENST00000367858.5	-	2	757	c.160C>A	c.(160-162)Cct>Act	p.P54T	SGK1_ENST00000524929.1_Missense_Mutation_p.P54T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0	Necessary for localization to the cytoplasm.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCCCCTGGAGGGATGTGCACC	0.542000													50	65					2.55665e-31	4.47489e-31	1	1	0
COL14A1	7373	broad.mit.edu	37	8	121243835	121243835	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:121243835C>A	ENST00000297848.3	+	19	2597	c.2327C>A	c.(2326-2328)cCt>cAt	p.P776H	COL14A1_ENST00000247781.3_Missense_Mutation_p.P681H|COL14A1_ENST00000309791.4_Missense_Mutation_p.P776H|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	776	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAAGGGGACCCTGAGGAAGAA	0.448000													12	40					0.0809354	0.0828305	1	1	0
GTF2H2C	728340	broad.mit.edu	37	5	68868340	68868340	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:68868340C>G	ENST00000510979.1	+	8	628	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V	GTF2H2C_ENST00000514162.1_Intron|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.L145V|GTF2H2C_ENST00000508344.2_Missense_Mutation_p.L88V|GTF2H2C_ENST00000512736.1_Missense_Mutation_p.L145V	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	general transcription factor IIH, polypeptide 2C	145	VWFA.				DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(1)|lung(1)	2						AGAGCCATCTCTTTATAATTC	0.313000													30	85					0	0	1	0	0
TMPRSS6	164656	broad.mit.edu	37	22	37492000	37492000	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:37492000C>A	ENST00000381792.2	-	5	675	c.535G>T	c.(535-537)Gcc>Tcc	p.A179S	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A179S|TMPRSS6_ENST00000442782.2_Missense_Mutation_p.A188S|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A188S|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A179S			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	188					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TAGGGGACGGCAGCCGAGCTG	0.637000													17	10					1.02788e-11	1.37731e-11	1	1	0
PSG11	5680	broad.mit.edu	37	19	43519507	43519507	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:43519507G>A	ENST00000401740.1	-	4	828	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG11_ENST00000320078.7_Missense_Mutation_p.P242L|PSG11_ENST00000403486.1_Missense_Mutation_p.P120L|PSG11_ENST00000306322.7_Missense_Mutation_p.P120L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	242	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				GAAAATTCTGGGGAGGTCTGG	0.483000													133	47					0	0	1	0	0
ZBTB14	7541	broad.mit.edu	37	18	5291435	5291435	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:5291435T>C	ENST00000357006.4	-	4	1110	c.772A>G	c.(772-774)Aca>Gca	p.T258A	ZBTB14_ENST00000400143.3_Missense_Mutation_p.T258A	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CTGGCGGCTGTTGTCCAGCCT	0.498000													16	66					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30935460	30935460	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:30935460G>T	ENST00000355537.3	+	2	1138	c.991G>T	c.(991-993)Ggc>Tgc	p.G331C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTCGGCCCAGGGCCAGGGCCC	0.652000													75	95					3.83446e-41	7.00861e-41	1	1	0
CHD7	55636	broad.mit.edu	37	8	61654206	61654206	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:61654206A>G	ENST00000423902.2	+	2	694	c.215A>G	c.(214-216)tAt>tGt	p.Y72C	CHD7_ENST00000525508.1_Missense_Mutation_p.Y72C|CHD7_ENST00000524602.1_Missense_Mutation_p.Y72C	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	72					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|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA 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)			TTTGATCACTATAATCAGTAT	0.443000													4	16					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31587069	31587069	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:31587069C>A	ENST00000379416.3	-	24	2634	c.2586G>T	c.(2584-2586)gtG>gtT	p.V862V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	862					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGAAGTGGTCCACCTCAAGAG	0.542000													24	31					8.24728e-16	1.19566e-15	1	1	0
ZNF33A	7581	broad.mit.edu	37	10	38343714	38343714	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:38343714A>T	ENST00000374618.3	+	5	840	c.662A>T	c.(661-663)tAc>tTc	p.Y221F	ZNF33A_ENST00000307441.9_Missense_Mutation_p.Y220F|ZNF33A_ENST00000432900.2_Missense_Mutation_p.Y227F|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000458705.2_Missense_Mutation_p.Y220F	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	220						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AATTTTGAATACAGTATATGT	0.358000													26	50					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934444	68934444	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:68934444C>G	ENST00000356291.2	-	7	706	c.647G>C	c.(646-648)gGg>gCg	p.G216A	RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA|RP11-453E17.1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	216	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGCCATTCCCCTTCCATAGC	0.527000													15	42					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26856033	26856033	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:26856033G>T	ENST00000376236.4	+	15	2072	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N	APBB1IP_ENST00000493857.1_3'UTR	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	539	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TCAAGGCCAAGGGCACAGGCG	0.801000													5	1					0.000602214	0.000653205	1	1	0
ZFP82	284406	broad.mit.edu	37	19	36884661	36884661	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:36884661C>G	ENST00000392161.3	-	5	823	c.581G>C	c.(580-582)gGt>gCt	p.G194A	ZFP82_ENST00000392171.1_Missense_Mutation_p.G194A	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGGTTTTTCACCAGTATGAAT	0.418000													19	131					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343362	248343362	+	Silent	SNP	G	G	T	rs145713159	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:248343362G>T	ENST00000359682.2	+	1	75	c.75G>T	c.(73-75)acG>acT	p.T25T		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-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)			CACCACACACGTTCCTCTTCT	0.498000													92	109					1.06222e-33	1.88812e-33	1	1	0
RUNX2	860	broad.mit.edu	37	6	45514747	45514747	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:45514747C>A	ENST00000371438.1	+	8	1629	c.1271C>A	c.(1270-1272)cCa>cAa	p.P424Q	RUNX2_ENST00000576263.1_Intron|RUNX2_ENST00000541979.1_Missense_Mutation_p.P470Q|RUNX2_ENST00000465038.2_Missense_Mutation_p.P424Q|RUNX2_ENST00000352853.5_Missense_Mutation_p.P492Q|RUNX2_ENST00000371432.3_Missense_Mutation_p.P388Q|RUNX2_ENST00000371436.6_Missense_Mutation_p.P402Q|RUNX2_ENST00000359524.5_Missense_Mutation_p.P410Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	424	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TACCTGCCACCACCCTACCCC	0.567000													25	34					3.93418e-24	6.45988e-24	1	1	0
RSPH3	83861	broad.mit.edu	37	6	159420560	159420560	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:159420560C>A	ENST00000367069.2	-	1	659	c.23G>T	c.(22-24)cGc>cTc	p.R8L	RSPH3_ENST00000297262.3_Missense_Mutation_p.R150L|RSPH3_ENST00000252655.1_Missense_Mutation_p.R150L|RP1-111C20.4_ENST00000607391.1_RNA|RSPH3_ENST00000449822.1_Missense_Mutation_p.R8L			Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	150										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		CCGAGAGGTGCGATCAGTCAG	0.672000													14	47					7.93312e-07	9.41583e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179424241	179424241	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179424241C>A	ENST00000589042.1	-	326	86842	c.86618G>T	c.(86617-86619)gGt>gTt	p.G28873V	TTN_ENST00000359218.5_Missense_Mutation_p.G19933V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20000V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G26305V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27232V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G19808V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27232	Fibronectin type-III 110.						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)			TGGTGCTCCACCATCGTTTTC	0.458000													50	75					3.21987e-24	5.31046e-24	1	1	0
PROS1	5627	broad.mit.edu	37	3	93595823	93595823	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:93595823C>A	ENST00000394236.3	-	14	2173	c.1857G>T	c.(1855-1857)ctG>ctT	p.L619L	PROS1_ENST00000407433.1_Silent_p.L488L	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	619	Laminin G-like 2.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.L619L(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GAAGGCCACCCAGGTATGTGG	0.343000													35	57					6.84511e-11	9.02559e-11	1	1	0
OAS2	4939	broad.mit.edu	37	12	113433240	113433240	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:113433240A>G	ENST00000392583.2	+	3	795	c.588A>G	c.(586-588)ctA>ctG	p.L196L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Silent_p.L196L	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	196	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGGAAAACTAAAGGATTTGA	0.383000													30	58					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1416277	1416277	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:1416277C>A	ENST00000270349.9	-	7	1094	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G323C	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	323					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AACCCCACGCCCAGGGAGAAG	0.627000													19	29					7.41877e-09	9.33471e-09	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128862057	128862057	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:128862057A>T	ENST00000274487.4	+	4	1121	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	326	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCAAGAATACAACATAGAGAC	0.393000													39	79					0	0	1	0	0
MIR1185-2	100302209	broad.mit.edu	37	14	101510584	101510584	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:101510584C>A	ENST00000408687.1	+	0	50					NR_031571.1																						TGATTAATGGCGAATATACAG	0.502000													16	8					9.16793e-09	1.15064e-08	1	1	0
SLC5A12	159963	broad.mit.edu	37	11	26743178	26743178	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:26743178A>G	ENST00000396005.3	-	1	393	c.84T>C	c.(82-84)ttT>ttC	p.F28F	SLC5A12_ENST00000280467.6_Silent_p.F28F	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	28					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCTTAATGGCAAAGAACACCC	0.463000													43	46					0	0	1	0	0
SHANK3	85358	broad.mit.edu	37	22	51160759	51160759	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:51160759C>T	ENST00000414786.2	+	21	4683	c.4456C>T	c.(4456-4458)Cgc>Tgc	p.R1486C	SHANK3_ENST00000445220.2_Missense_Mutation_p.R1502C|SHANK3_ENST00000262795.3_Missense_Mutation_p.R1516C			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1516										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCTCAGCTCCCGCCTGCAGCA	0.642000													7	18					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45387646	45387646	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:45387646G>T	ENST00000389039.6	-	31	4613	c.4228C>A	c.(4228-4230)Ctg>Atg	p.L1410M	DUOX2_ENST00000603300.1_Missense_Mutation_p.L1410M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1410					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTCTTACACAGCATTTGGCTG	0.537000													60	16					2.73361e-28	4.67451e-28	1	1	0
NBL1	4681	broad.mit.edu	37	1	19969872	19969872	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:19969872G>A	ENST00000289749.2	+	1	147	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	MINOS1-NBL1_ENST00000602662.1_Intron	NM_182744.3	NP_877421.2	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	0						extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCAAGCTAGGTAAAACACA	0.537000													7	23					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811042	123811042	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:123811042G>T	ENST00000307033.2	+	1	793	c.719G>T	c.(718-720)tGt>tTt	p.C240F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C240S(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTGTCTACCTGTGCCTCTCAC	0.542000													94	88					2.42943e-58	4.58139e-58	1	1	0
HS3ST5	222537	broad.mit.edu	37	6	114378539	114378539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:114378539C>A	ENST00000312719.5	-	5	2111	c.923G>T	c.(922-924)aGc>aTc	p.S308I	RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.S308I|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	308					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GCGCCCCTTGCTGCCCGCCAG	0.418000													25	33					1.55469e-16	2.2874e-16	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7545644	7545644	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:7545644C>A	ENST00000399429.3	-	11	1167		c.e11+1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTAAGATTACCTTATTGCCT	0.433000													30	89					2.81731e-10	3.67885e-10	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39227604	39227604	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:39227604G>T	ENST00000340369.3	-	2	3561	c.3333C>A	c.(3331-3333)ccC>ccA	p.P1111P	XIRP1_ENST00000396251.1_Silent_p.P1111P|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1111							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTGGGATCCGGGGATCACTTC	0.612000													44	18					2.84425e-11	3.78046e-11	1	1	0
DEFB134	613211	broad.mit.edu	37	8	11851592	11851592	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:11851592T>C	ENST00000526438.1	-	2	158	c.98A>G	c.(97-99)tAt>tGt	p.Y33C	DEFB134_ENST00000382205.4_Missense_Mutation_p.Y33C	NM_001033019.1	NP_001028191.1	Q4QY38	DB134_HUMAN	defensin, beta 134	33					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.159)		GCCATTTTTATAGCATTTCTT	0.373000													15	58					0	0	1	0	0
KIAA1755	85449	broad.mit.edu	37	20	36841786	36841786	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:36841786C>A	ENST00000279024.4	-	14	3532	c.3261G>T	c.(3259-3261)aaG>aaT	p.K1087N		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1087										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CCCACCTCCCCTTGGAAGTGA	0.602000													11	7					0.0692343	0.0709532	1	1	0
KIAA0907	22889	broad.mit.edu	37	1	155884040	155884040	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:155884040C>T	ENST00000368321.3	-	14	1740	c.1717G>A	c.(1717-1719)Gat>Aat	p.D573N	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	573										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCCTCTTCATCAGATGAATCT	0.428000													37	90					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157488304	157488304	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:157488304G>T	ENST00000346085.5	+	10	3011	c.3010G>T	c.(3010-3012)Gtg>Ttg	p.V1004L	ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000350026.5_Missense_Mutation_p.V991L|ARID1B_ENST00000275248.4_Missense_Mutation_p.V933L|ARID1B_ENST00000367148.1_Missense_Mutation_p.V991L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	991					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCCGCCATGGTGAACAGCTC	0.607000													21	60					6.44725e-10	8.36005e-10	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92760661	92760661	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:92760661C>A	ENST00000318238.4	-	5	5840	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.E1542*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.E1542*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1542										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTATTTTTTCCTCTGTTCCA	0.403000													44	15					2.26627e-22	3.64863e-22	1	1	0
PCDH8	5100	broad.mit.edu	37	13	53420605	53420605	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:53420605T>A	ENST00000377942.3	-	1	2170	c.1967A>T	c.(1966-1968)cAg>cTg	p.Q656L	PCDH8_ENST00000338862.4_Missense_Mutation_p.Q656L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	656	Cadherin 6.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCGCGGCTCCTGCTGCTGCAG	0.711000													10	7					0	0	1	0	0
INTS4P1	285905	broad.mit.edu	37	7	64601717	64601717	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:64601717C>A	ENST00000587624.1	+	0	115																											CCATTGGCAGCCTGCGCGGGC	0.692000													3	0					0.115264	0.117317	1	1	0
SLC16A3	9123	broad.mit.edu	37	17	80195044	80195044	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:80195044C>T	ENST00000581287.1	+	3	2720	c.398C>T	c.(397-399)tCg>tTg	p.S133L	SLC16A3_ENST00000582743.1_Missense_Mutation_p.S133L|SLC16A3_ENST00000392341.1_Missense_Mutation_p.S133L|SLC16A3_ENST00000392339.1_Missense_Mutation_p.S133L|SLC16A3_ENST00000584781.1_3'UTR	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	133					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TTCCAGCCCTCGCTCATCATG	0.642000													4	6					0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202025397	202025397	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:202025397C>G	ENST00000309955.2	+	9	1551	c.1036C>G	c.(1036-1038)Cct>Gct	p.P346A	CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Missense_Mutation_p.P250A|CFLAR_ENST00000340870.5_Missense_Mutation_p.P346A|CFLAR_ENST00000479953.2_Missense_Mutation_p.P250A|CFLAR_ENST00000341582.6_Missense_Mutation_p.P311A|CFLAR_ENST00000423241.2_Missense_Mutation_p.P346A|CFLAR_ENST00000457277.1_Missense_Mutation_p.P346A	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	346	Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						AGATTCATGCCCTTATCTAGC	0.547000													23	52					0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	56998708	56998708	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:56998708G>A	ENST00000251047.5	-	12	2155	c.1438C>T	c.(1438-1440)Cac>Tac	p.H480Y		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	480					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATAATGAAGTGGACCGTAGAC	0.353000													33	20					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86581052	86581052	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:86581052C>A	ENST00000370571.2	-	4	1867	c.1501G>T	c.(1501-1503)Ggt>Tgt	p.G501C	COL24A1_ENST00000436319.1_Missense_Mutation_p.G501C	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	501	Collagen-like 1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CCTGCTGGACCAGGTGGACCC	0.443000													6	26					5.18039e-06	5.98605e-06	1	1	0
RIMS3	9783	broad.mit.edu	37	1	41092230	41092230	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:41092230G>A	ENST00000372684.3	-	8	1355	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	RIMS3_ENST00000372683.1_Nonsense_Mutation_p.Q296*	NM_014747.2	NP_055562.2	Q9UJD0	RIMS3_HUMAN	regulating synaptic membrane exocytosis 3	296					neurotransmitter transport	cell junction|synapse				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			AGGGAAGACTGGGACAGGCGC	0.642000													12	21					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80663933	80663933	+	Splice_Site	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:80663933T>A	ENST00000458043.2	+	22	2496	c.2491_splice	c.e22+1	p.A830_splice	OTOGL_ENST00000547103.1_Splice_Site_p.A830_splice	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CGCCCTCTGCTGGTAAGATCT	0.398000											OREG0011204|OREG0022007	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip); Conservation found by scanning with a motif model	6	15					0	0	1	0	0
FAM129C	199786	broad.mit.edu	37	19	17644423	17644423	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:17644423G>T	ENST00000335393.4	+	5	571	c.433G>T	c.(433-435)Ggc>Tgc	p.G145C	FAM129C_ENST00000300971.2_Missense_Mutation_p.G145C|FAM129C_ENST00000599124.1_Missense_Mutation_p.G114C|FAM129C_ENST00000599164.1_Missense_Mutation_p.G114C|FAM129C_ENST00000597887.1_3'UTR|FAM129C_ENST00000600871.1_Missense_Mutation_p.G91C|FAM129C_ENST00000601861.1_Missense_Mutation_p.G114C|FAM129C_ENST00000595684.1_Missense_Mutation_p.G145C|FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000352727.3_Missense_Mutation_p.G145C|FAM129C_ENST00000332386.5_Missense_Mutation_p.G145C	NM_173544.4	NP_775815.2	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	145										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCACTGCCTTGGCTCAACAGC	0.537000													34	14					8.73648e-17	1.28794e-16	1	1	0
CREBBP	1387	broad.mit.edu	37	16	3900443	3900443	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:3900443C>A	ENST00000262367.5	-	2	1462	c.653G>T	c.(652-654)aGa>aTa	p.R218I	CREBBP_ENST00000382070.3_Missense_Mutation_p.R218I	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	218					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCCCTTCCTCTGCCAGCAGC	0.572000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						21	48					1.15919e-05	1.32504e-05	1	1	0
TBR1	10716	broad.mit.edu	37	2	162273126	162273126	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:162273126C>A	ENST00000389554.3	+	1	522	c.205C>A	c.(205-207)Cct>Act	p.P69T		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	69						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AGACAATTTTCCTGACTCCAA	0.493000													41	61					1.96642e-18	2.97869e-18	1	1	0
NLGN4X	57502	broad.mit.edu	37	X	6069136	6069136	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:6069136C>T	ENST00000381095.3	-	2	999	c.372G>A	c.(370-372)ctG>ctA	p.L124L	NLGN4X_ENST00000469740.1_5'UTR|NLGN4X_ENST00000275857.6_Silent_p.L124L|NLGN4X_ENST00000381092.1_Silent_p.L124L|NLGN4X_ENST00000381093.2_Silent_p.L124L|NLGN4X_ENST00000538097.1_Silent_p.L124L	NM_181332.1	NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	124					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						ACCAGATGGGCAGCATGTCAT	0.488000													35	15					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55976589	55976589	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:55976589C>A	ENST00000263923.4	-	9	1531	c.1236G>T	c.(1234-1236)gtG>gtT	p.V412V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	412	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGAGAGACCACATGGCTCT	0.438000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			31	49					3.99451e-17	5.91219e-17	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138669316	138669316	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:138669316C>T	ENST00000298480.5	+	21	2556	c.2482C>T	c.(2482-2484)Cgc>Tgc	p.R828C	KCNT1_ENST00000263604.3_Missense_Mutation_p.R809C|KCNT1_ENST00000371757.2_Missense_Mutation_p.R828C|KCNT1_ENST00000491806.2_Missense_Mutation_p.R795C|KCNT1_ENST00000490355.2_Missense_Mutation_p.R807C|KCNT1_ENST00000488444.2_Missense_Mutation_p.R809C|KCNT1_ENST00000487664.1_Missense_Mutation_p.R783C|KCNT1_ENST00000486577.2_Missense_Mutation_p.R787C			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	828						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTACAGATCCCGCAAGGAGCT	0.632000													14	13					0	0	1	0	0
CRISP2	7180	broad.mit.edu	37	6	49660542	49660542	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:49660542C>A	ENST00000339139.4	-	10	912	c.676G>T	c.(676-678)Gag>Tag	p.E226*		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	226						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TTGAGTAACTCATGTTCACAG	0.398000													26	58					9.57634e-11	1.25933e-10	1	1	0
MNX1	3110	broad.mit.edu	37	7	156798543	156798543	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:156798543G>A	ENST00000252971.6	-	3	1177	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	MNX1_ENST00000469500.1_Intron|MNX1_ENST00000543409.1_Missense_Mutation_p.R81W	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	293			R -> Q (in CURRAS).|R -> W (in CURRAS).		humoral immune response|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATTTCATCCGCCGGTTCTGG	0.687000													20	58					0	0	1	0	0
DTX1	1840	broad.mit.edu	37	12	113533149	113533149	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:113533149C>A	ENST00000257600.3	+	8	2071	c.1568C>A	c.(1567-1569)cCc>cAc	p.P523H	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	523					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						CACCCCAACCCCGGGAAGAAG	0.602000													19	48					0.00074312	0.000802527	1	1	0
PPP1R16B	26051	broad.mit.edu	37	20	37547006	37547006	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:37547006G>A	ENST00000299824.1	+	11	1590	c.1401G>A	c.(1399-1401)ccG>ccA	p.P467P	PPP1R16B_ENST00000373331.2_Silent_p.P425P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	467					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				ACGCCACCCCGCCCTGGAGCA	0.637000													13	64					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46318943	46318943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:46318943C>A	ENST00000245934.7	-	27	3944	c.3700G>T	c.(3700-3702)Ggc>Tgc	p.G1234C	SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1234					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCAGCCCGCCCGCTGCCGTC	0.697000													15	1					0.000422831	0.000463027	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19195815	19195815	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:19195815C>A	ENST00000263200.10	-	22	3521	c.3449G>T	c.(3448-3450)tGg>tTg	p.W1150L	CLTCL1_ENST00000353891.5_Missense_Mutation_p.W1150L|CLTCL1_ENST00000427926.1_Missense_Mutation_p.W1150L	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1150	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TAGATCCTCCCAGTTGTCTAA	0.413000			T	?	ALCL								45	61					4.18559e-23	6.81994e-23	1	1	0
CABS1	85438	broad.mit.edu	37	4	71201323	71201323	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:71201323C>A	ENST00000273936.4	+	1	626	c.567C>A	c.(565-567)agC>agA	p.S189R		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	189						flagellum	calcium ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGATATGAGCAATTATAATT	0.478000													19	36					2.94398e-08	3.65172e-08	1	1	0
LSG1	55341	broad.mit.edu	37	3	194387271	194387271	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:194387271T>A	ENST00000265245.5	-	3	571	c.257A>T	c.(256-258)gAg>gTg	p.E86V		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	86					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AGTTCTAGCCTCAGCAGGCAC	0.383000													28	51					0	0	1	0	0
ATOH1	474	broad.mit.edu	37	4	94750294	94750294	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:94750294T>A	ENST00000306011.3	+	1	253	c.217T>A	c.(217-219)Tgc>Agc	p.C73S		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	73					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		GCAGGGCATCTGCACGGCACG	0.687000													10	11					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39119034	39119034	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:39119034T>C	ENST00000351578.6	-	15	2395	c.2205A>G	c.(2203-2205)ctA>ctG	p.L735L	FYB_ENST00000512982.1_Silent_p.L781L|FYB_ENST00000540520.1_Silent_p.L791L|FYB_ENST00000505428.1_Silent_p.L781L|FYB_ENST00000515010.1_Silent_p.L735L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	735					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GTATAACTTCTAGAGATTCAC	0.343000													18	35					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6807026	6807026	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:6807026G>T	ENST00000307401.4	+	1	779	c.758G>T	c.(757-759)gGa>gTa	p.G253V		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGTTCTATGGAGCTGCCACA	0.478000													46	48					1.00776e-21	1.60679e-21	1	1	0
SHANK2	22941	broad.mit.edu	37	11	70336381	70336381	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:70336381C>A	ENST00000409530.1	-	8	783	c.784G>T	c.(784-786)Ggt>Tgt	p.G262C	SHANK2_ENST00000409161.1_Splice_Site_p.D255_splice|SHANK2_ENST00000357171.3_Missense_Mutation_p.G263C|SHANK2_ENST00000338508.4_Splice_Site_p.D852_splice|SHANK2_ENST00000423696.2_Splice_Site_p.D472_splice|SHANK2_ENST00000449833.2_Splice_Site_p.D256_splice|SHANK2_ENST00000449116.2_Missense_Mutation_p.G253C			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	472	PDZ.				intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACTTCTTACCTATTGATTTC	0.577000													35	30					1.99505e-19	3.06265e-19	1	1	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525637	150525637	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:150525637C>T	ENST00000271643.4	+	5	578	c.342C>T	c.(340-342)taC>taT	p.Y114Y	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.Y114Y|ADAMTSL4_ENST00000369041.5_Silent_p.Y114Y|ADAMTSL4_ENST00000369039.5_Silent_p.Y114Y	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	114					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCCCTTGTACAGGACACAGT	0.667000													18	82					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942512	6942512	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:6942512G>C	ENST00000317834.3	+	1	308	c.280G>C	c.(280-282)Gtc>Ctc	p.V94L		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TACTAGCATTGTCCCTCAAGT	0.393000													9	136					0	0	1	0	0
ZNF343	79175	broad.mit.edu	37	20	2464825	2464825	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:2464825C>A	ENST00000278772.4	-	6	1269	c.782G>T	c.(781-783)aGg>aTg	p.R261M	RP4-734P14.4_ENST00000461548.1_Intron	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						TAAGAGGGTCCTCGGGTTTGT	0.433000													34	37					1.99505e-19	3.06265e-19	1	1	0
C17orf47	284083	broad.mit.edu	37	17	56621440	56621440	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:56621440G>A	ENST00000321691.3	-	1	289	c.108C>T	c.(106-108)gcC>gcT	p.A36A	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	36										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GATGGCTTGAGGCAAGAACGT	0.537000													68	80					0	0	1	0	0
FLII	2314	broad.mit.edu	37	17	18151882	18151882	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:18151882C>T	ENST00000327031.4	-	18	2397	c.2172G>A	c.(2170-2172)ccG>ccA	p.P724P	FLII_ENST00000579294.1_Silent_p.P713P|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Silent_p.P669P|FLII_ENST00000379450.4_Silent_p.P638P	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	724	Interaction with ACTL6A.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					GCTTGGGCTGCGGCGGCCAGA	0.622000											OREG0024225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	68					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830562	61830562	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:61830562T>G	ENST00000280772.1	-	37	10268	c.10077A>C	c.(10075-10077)gaA>gaC	p.E3359D	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3359					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TACTTTCCAGTTCTTTCTGGT	0.398000													73	99					0	0	1	0	0
BEST2	54831	broad.mit.edu	37	19	12866460	12866460	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:12866460T>A	ENST00000549706.1	+	7	1070	c.746T>A	c.(745-747)cTg>cAg	p.L249Q	BEST2_ENST00000553030.1_Missense_Mutation_p.L249Q|BEST2_ENST00000042931.1_Missense_Mutation_p.L249Q			Q8NFU1	BEST2_HUMAN	bestrophin 2	249					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						AGCTACTTCCTGGCTTGCCTC	0.577000													52	12					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196791228	196791228	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:196791228C>G	ENST00000312428.6	-	22	3634	c.3534G>C	c.(3532-3534)tgG>tgC	p.W1178C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1178	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGTCCAGGCCAATCCCTTA	0.368000													15	55					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26529696	26529696	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:26529696G>T	ENST00000256737.3	+	5	1330	c.478G>T	c.(478-480)Ggc>Tgc	p.G160C	ANO3_ENST00000525139.1_Missense_Mutation_p.G144C|ANO3_ENST00000531646.1_Missense_Mutation_p.G160C|ANO3_ENST00000537978.1_Missense_Mutation_p.G144C|ANO3_ENST00000531568.1_Missense_Mutation_p.G14C	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	160						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTTCAAAGATGGCAAAAAGAG	0.333000													17	36					8.60227e-14	1.20254e-13	1	1	0
IGFBP5	3488	broad.mit.edu	37	2	217543652	217543652	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:217543652G>T	ENST00000233813.4	-	2	1237	c.488C>A	c.(487-489)tCc>tAc	p.S163Y		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	163					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACAAACTTGGACTGGGTCAG	0.587000													6	22					2.0095e-06	2.34573e-06	1	1	0
CNBD2	140894	broad.mit.edu	37	20	34572670	34572670	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:34572670A>T	ENST00000373973.3	+	6	859	c.686A>T	c.(685-687)aAg>aTg	p.K229M	CNBD2_ENST00000538900.1_Missense_Mutation_p.K229M|CNBD2_ENST00000349339.1_Missense_Mutation_p.K229M					cyclic nucleotide binding domain containing 2																		GAAGTTCAGAAGGATGCTCAG	0.443000													23	95					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26655804	26655804	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:26655804C>T	ENST00000256737.3	+	19	2779	c.1927C>T	c.(1927-1929)Ctc>Ttc	p.L643F	ANO3_ENST00000525139.1_Missense_Mutation_p.L627F|ANO3_ENST00000537978.1_Missense_Mutation_p.L627F|ANO3_ENST00000531568.1_Missense_Mutation_p.L497F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	643						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GAAGATGTTCCTCTTCCAGTT	0.398000													5	32					0	0	1	0	0
ARF5	381	broad.mit.edu	37	7	127229589	127229589	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:127229589G>T	ENST00000000233.5	+	3	353	c.199G>T	c.(199-201)Gac>Tac	p.D67Y	ARF5_ENST00000467281.1_3'UTR|GCC1_ENST00000497650.1_Intron	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	67					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			cervix(2)|kidney(1)|lung(10)|ovary(1)	14						CACAGTCTGGGACGTGGGAGG	0.473000													18	67					6.49762e-13	8.94024e-13	1	1	0
CECR5	27440	broad.mit.edu	37	22	17619579	17619579	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:17619579C>T	ENST00000336737.4	-	7	821	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	CECR5_ENST00000155674.5_Missense_Mutation_p.V236M|CECR5_ENST00000399852.3_Intron	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	266							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TTGCCCGTCACTTTCTGGTAA	0.562000													65	136					0	0	1	0	0
CLCN5	1184	broad.mit.edu	37	X	49846437	49846437	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:49846437G>T	ENST00000376088.3	+	9	1507	c.866G>T	c.(865-867)tGc>tTc	p.C289F	CLCN5_ENST00000376091.3_Missense_Mutation_p.C289F|CLCN5_ENST00000307367.2_Missense_Mutation_p.C219F|CLCN5_ENST00000376108.3_Missense_Mutation_p.C219F	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	219					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CACGTGGCTTGCTGCTGTGGG	0.498000													13	6					0.00010058	0.000112124	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169461402	169461402	+	Splice_Site	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:169461402G>C	ENST00000256935.8	+	35	3547		c.e35-1		DOCK2_ENST00000520908.1_Splice_Site|DOCK2_ENST00000523351.1_Splice_Site|DOCK2_ENST00000540750.1_Splice_Site	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2						actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTGCCGCAGCCTGATGGAA	0.582000													4	26					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55971129	55971129	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:55971129T>A	ENST00000263923.4	-	13	1963	c.1668A>T	c.(1666-1668)caA>caT	p.Q556H		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	556	Ig-like C2-type 6.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GCATGTCAGGTTGCAAAGTAA	0.468000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			22	34					0	0	1	0	0
MYLK2	85366	broad.mit.edu	37	20	30407986	30407986	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:30407986G>T	ENST00000375994.2	+	2	383	c.110G>T	c.(109-111)gGc>gTc	p.G37V	MYLK2_ENST00000375985.4_Missense_Mutation_p.G37V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	37					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AAAGACCCTGGCCCCCCAGAC	0.592000													75	20					3.4779e-39	6.31032e-39	1	1	0
GABRA1	2554	broad.mit.edu	37	5	161300254	161300254	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:161300254C>A	ENST00000428797.2	+	6	742	c.387C>A	c.(385-387)caC>caA	p.H129Q	GABRA1_ENST00000023897.6_Missense_Mutation_p.H129Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.H129Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.H129Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.H129Q|GABRA1_ENST00000437025.2_Missense_Mutation_p.H129Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	129				Missing (in Ref. 4; CAA31925).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CATTTTTCCACAATGGAAAGA	0.463000													41	18					9.85521e-28	1.67945e-27	1	1	0
LYRM4	57128	broad.mit.edu	37	6	5216971	5216971	+	Splice_Site	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:5216971T>A	ENST00000330636.4	-	2	292	c.86_splice	c.e2-1	p.R29_splice	LYRM4_ENST00000468929.1_Intron|LYRM4_ENST00000464010.1_Splice_Site_p.R29_splice|LYRM4_ENST00000480566.1_Splice_Site_p.R29_splice|LYRM4_ENST00000500576.2_Splice_Site_p.R29_splice	NM_020408.4	NP_065141.3	Q9HD34	LYRM4_HUMAN	LYR motif containing 4	29						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				CAGCATATGTTCTAAATGAAT	0.338000													64	12					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109611946	109611946	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:109611946G>T	ENST00000338432.7	+	7	1246	c.1127G>T	c.(1126-1128)aGt>aTt	p.S376I	ACACB_ENST00000377854.5_Missense_Mutation_p.S376I|ACACB_ENST00000377848.3_Missense_Mutation_p.S376I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	376	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCCCTCCCAGTGAGGCCATG	0.632000													6	13					0.00116845	0.00125275	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186055509	186055509	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:186055509A>T	ENST00000271588.4	+	58	9245	c.9016A>T	c.(9016-9018)Aaa>Taa	p.K3006*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K3006*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3006	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGCCCATCAAACTGAACAC	0.388000													34	33					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79419842	79419842	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:79419842G>T	ENST00000307745.7	+	18	4410	c.4410G>T	c.(4408-4410)acG>acT	p.T1470T																								CACGTCCCACGGGGCCGCTCC	0.711000													11	5					4.68919e-08	5.78268e-08	1	1	0
HS3ST1	9957	broad.mit.edu	37	4	11400839	11400839	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:11400839C>T	ENST00000002596.5	-	2	1965	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	264						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						ATGTAAGCAGCGGTCCCGGCC	0.502000													22	44					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158281283	158281283	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:158281283G>C	ENST00000296526.7	+	13	2604	c.2279G>C	c.(2278-2280)gGa>gCa	p.G760A	GRIA2_ENST00000393815.2_Missense_Mutation_p.G713A|GRIA2_ENST00000449365.1_Missense_Mutation_p.G713A|AC079233.1_ENST00000578227.1_RNA|GRIA2_ENST00000507898.1_Missense_Mutation_p.G713A|GRIA2_ENST00000264426.9_Missense_Mutation_p.G760A	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	760					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACCTAAAGGATCCTCATTA	0.423000													40	48					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725036	7725036	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:7725036C>A	ENST00000303635.7	+	9	2636	c.2429C>A	c.(2428-2430)gCg>gAg	p.A810E	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A810E	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.A810V(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAGGACGGGGCGCGGGCCCCC	0.677000			T	WWTR1	epitheliod hemangioendothelioma								79	67					1.77355e-41	3.24569e-41	1	1	0
ZMAT4	79698	broad.mit.edu	37	8	40554902	40554902	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:40554902C>A	ENST00000297737.6	-	4	357	c.211G>T	c.(211-213)Gtg>Ttg	p.V71L	ZMAT4_ENST00000315769.7_Missense_Mutation_p.V71L	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	71						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTCTTATCCACCATGTCGGCA	0.478000													14	42					7.93312e-07	9.41583e-07	1	1	0
RPA2	6118	broad.mit.edu	37	1	28233752	28233752	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:28233752C>A	ENST00000373912.3	-	3	458	c.159G>T	c.(157-159)caG>caT	p.Q53H	RPA2_ENST00000373909.3_Missense_Mutation_p.Q61H|RPA2_ENST00000313433.7_Missense_Mutation_p.Q141H	NM_002946.3	NP_002937.1	P15927	RFA2_HUMAN	replication protein A2, 32kDa	53					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAAGCAGCTGAGATATAG	0.368000								Direct reversal of damage;Nucleotide excision repair (NER)					23	105					6.44725e-10	8.36005e-10	1	1	0
HOXA10	3206	broad.mit.edu	37	7	27211532	27211532	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:27211532A>T	ENST00000283921.4	-	2	1218	c.1219T>A	c.(1219-1221)Ttt>Att	p.F407I	HOXA10_ENST00000396344.4_Missense_Mutation_p.F91I|HOXA10_ENST00000521421.1_5'UTR|RP1-170O19.20_ENST00000465941.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA-AS4_ENST00000519935.1_RNA	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	407					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						GAAAAATTAAAGTTGGCTGTG	0.517000													18	119					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616383	140616383	+	RNA	SNP	G	G	A	rs1985582	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140616383G>A	ENST00000526308.1	+	0	2446					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCAGTACGAGGTGTGTCTGAC	0.612000													102	14					0	0	1	0	0
FAM76B	143684	broad.mit.edu	37	11	95504787	95504787	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:95504787C>A	ENST00000358780.5	-	10	1270	c.958G>T	c.(958-960)Gtc>Ttc	p.V320F	FAM76B_ENST00000536839.1_Missense_Mutation_p.V319F	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	320										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATGCTGCGACCTGTTTGAGT	0.318000													9	59					3.09899e-07	3.74398e-07	1	1	0
HMCN1	83872	broad.mit.edu	37	1	186008061	186008061	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:186008061A>T	ENST00000271588.4	+	38	6181	c.5952A>T	c.(5950-5952)tcA>tcT	p.S1984S	HMCN1_ENST00000367492.2_Silent_p.S1984S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1984	Ig-like C2-type 17.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGATCTCAGATGCTGGCA	0.418000													18	79					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190250821	190250821	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:190250821G>A	ENST00000367462.3	-	3	527	c.296C>T	c.(295-297)tCt>tTt	p.S99F	FAM5C_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_Intron	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		99						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)					AGGCAGAGGAGAGCCAAGGAA	0.403000													11	42					0	0	1	0	0
SPAM1	6677	broad.mit.edu	37	7	123594234	123594234	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:123594234A>G	ENST00000340011.5	+	3	967	c.610A>G	c.(610-612)Ata>Gta	p.I204V	SPAM1_ENST00000439500.1_Missense_Mutation_p.I204V|SPAM1_ENST00000223028.7_Missense_Mutation_p.I204V|SPAM1_ENST00000402183.2_Missense_Mutation_p.I204V|SPAM1_ENST00000460182.1_Missense_Mutation_p.I204V	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	204					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GGTAGAGACTATAAAATTGGG	0.388000													53	86					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434459	179434459	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179434459T>A	ENST00000589042.1	-	326	76624	c.76400A>T	c.(76399-76401)gAa>gTa	p.E25467V	TTN_ENST00000359218.5_Missense_Mutation_p.E16527V|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E16594V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E22899V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E23826V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E16402V|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23826	Fibronectin type-III 85.						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)			CTTCTCTACTTCTATGTTTGT	0.388000													19	33					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209369	140209369	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140209369C>T	ENST00000529310.1	+	1	1807	c.1693C>T	c.(1693-1695)Ctg>Ttg	p.L565L	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCCGGCGCTGCTGGCGCC	0.692000													13	62					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64167094	64167094	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:64167094G>T	ENST00000395391.1	+	4	1787	c.412G>T	c.(412-414)Gga>Tga	p.G138*	ZNF107_ENST00000344930.3_Nonsense_Mutation_p.G138*|ZNF107_ENST00000423627.1_Nonsense_Mutation_p.G138*			Q9UII5	ZN107_HUMAN	zinc finger protein 107	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGAAGAATGTGGAAAAGCCTT	0.353000													20	9					8.00594e-06	9.2152e-06	1	1	0
TNFRSF8	943	broad.mit.edu	37	1	12144548	12144548	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:12144548G>A	ENST00000263932.2	+	2	313	c.91G>A	c.(91-93)Gga>Aga	p.G31R	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	31					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CACCTGTCATGGAAACCCCAG	0.597000													26	31					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204702	56204702	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:56204702G>A	ENST00000361673.3	-	5	2930	c.2717C>T	c.(2716-2718)gCc>gTc	p.A906V	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	906							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCTCCTGTGGCACCTTCACT	0.527000													25	17					0	0	1	0	0
ALG9	79796	broad.mit.edu	37	11	111747647	111747647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:111747647C>A	ENST00000524880.1	-	3	710	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	FDXACB1_ENST00000542429.1_5'UTR|FDXACB1_ENST00000260257.4_Nonsense_Mutation_p.E140*			Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		TTGTGCCATTCTCTCTGGGGC	0.532000													7	9					8.12818e-05	9.07474e-05	1	1	0
GUCY1A3	2982	broad.mit.edu	37	4	156634249	156634249	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:156634249G>T	ENST00000296518.7	+	7	1295		c.e7-1		GUCY1A3_ENST00000393832.3_Splice_Site|GUCY1A3_ENST00000511507.1_Splice_Site|GUCY1A3_ENST00000455639.2_Splice_Site|GUCY1A3_ENST00000513574.1_Splice_Site|GUCY1A3_ENST00000506455.1_Splice_Site|GUCY1A3_ENST00000511108.1_Splice_Site			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTCCTTCATAGGTTATGGACC	0.388000													39	44					1.07637e-12	1.47554e-12	1	1	0
SEMA3G	56920	broad.mit.edu	37	3	52476874	52476874	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:52476874G>A	ENST00000231721.2	-	2	164	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	55	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGAGGTTCAGGGAGCCCTGGG	0.622000													6	3					0	0	1	0	0
JAK3	3718	broad.mit.edu	37	19	17955043	17955043	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:17955043C>A	ENST00000458235.1	-	2	283	c.184_splice	c.e2+1	p.G62_splice	JAK3_ENST00000534444.1_Splice_Site_p.G62_splice|JAK3_ENST00000527670.1_Splice_Site_p.G62_splice|JAK3_ENST00000526008.1_5'UTR	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	62	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.G62S(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ATGCACTCACCGCTGGCCTTG	0.647000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								5	2					0.000602214	0.000653205	1	1	0
OR2A2	442361	broad.mit.edu	37	7	143807534	143807534	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:143807534C>A	ENST00000408979.2	+	1	928	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L287M(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCTGAACCCCCTGATCTACAG	0.502000													75	117					2.34191e-24	3.87536e-24	1	1	0
RNF216	54476	broad.mit.edu	37	7	5680882	5680882	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:5680882A>C	ENST00000425013.2	-	15	2338	c.2114T>G	c.(2113-2115)gTt>gGt	p.V705G	RNF216_ENST00000389902.3_Missense_Mutation_p.V762G|RNF216_ENST00000469375.1_5'UTR	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	705					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		ATTAATAGAAACTCGACAGAG	0.517000													33	109					0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44144651	44144651	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:44144651G>T	ENST00000398776.1	+	11	1191	c.1153G>T	c.(1153-1155)Gac>Tac	p.D385Y	CAPN11_ENST00000542245.1_Missense_Mutation_p.D385Y	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	385	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACTCTCTGGGGACTACAAGAG	0.612000													103	191					9.6635e-32	1.70142e-31	1	1	0
TACSTD2	4070	broad.mit.edu	37	1	59042733	59042733	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:59042733G>T	ENST00000371225.2	-	1	433	c.96C>A	c.(94-96)gaC>gaA	p.D32E		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	32					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					ACGTGCAGTTGTCCTGCGCGG	0.761000													3	3					0.004672	0.00490296	1	1	0
SERPINA1	5265	broad.mit.edu	37	14	94848951	94848951	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:94848951C>A	ENST00000448921.1	-	4	1196	c.624G>T	c.(622-624)ctG>ctT	p.L208L	SERPINA1_ENST00000402629.1_Silent_p.L208L|SERPINA1_ENST00000355814.4_Silent_p.L208L|SERPINA1_ENST00000393088.4_Silent_p.L208L|SERPINA1_ENST00000393087.4_Silent_p.L208L|SERPINA1_ENST00000449399.3_Silent_p.L208L|SERPINA1_ENST00000440909.1_Silent_p.L208L|SERPINA1_ENST00000404814.4_Silent_p.L208L|SERPINA1_ENST00000437397.1_Silent_p.L208L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	208					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TGTAATTCACCAGAGCAAAAA	0.413000													69	83					1.17253e-29	2.02838e-29	1	1	0
C15orf53	400359	broad.mit.edu	37	15	38990597	38990597	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:38990597C>T	ENST00000318792.1	+	2	401	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C		NM_207444.2	NP_997327.1	Q8NAA6	CO053_HUMAN	chromosome 15 open reading frame 53	131								p.R131G(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	6		all_cancers(109;1.75e-13)|all_epithelial(112;1.02e-11)|Lung NSC(122;1.9e-09)|all_lung(180;4.04e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;8.39e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0321)		AACTGTGCCCCGCCGTTCACC	0.547000													34	13					0	0	1	0	0
CRYBG3	131544	broad.mit.edu	37	3	97605506	97605506	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:97605506C>T	ENST00000182096.4	+	5	1404	c.1340C>T	c.(1339-1341)cCa>cTa	p.P447L		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GAGCTTTTCCCACAATCTGAC	0.418000													40	80					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165961674	165961674	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:165961674C>T	ENST00000512596.1	+	3	666	c.450C>T	c.(448-450)ccC>ccT	p.P150P	TRIM60_ENST00000508504.1_Silent_p.P150P|TRIM60_ENST00000341062.5_Silent_p.P150P	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	150						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GCCTTGAGCCCTTGAGGAATA	0.393000													25	45					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166416783	166416783	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:166416783T>A	ENST00000402744.4	+	8	1566	c.1286T>A	c.(1285-1287)cTg>cAg	p.L429Q		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	429					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGCTATCTGGCAATAACA	0.388000													38	64					0	0	1	0	0
FKBP10	60681	broad.mit.edu	37	17	39975632	39975632	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39975632G>A	ENST00000321562.4	+	5	1002	c.898G>A	c.(898-900)Ggc>Agc	p.G300S	FKBP10_ENST00000544340.1_Missense_Mutation_p.G12S	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	300	PPIase FKBP-type 3.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		CTTGATGGACGGCACCCTCTT	0.652000													31	41					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407969	105407969	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:105407969C>A	ENST00000333244.5	-	7	13938	c.13819G>T	c.(13819-13821)Ggt>Tgt	p.G4607C	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4607						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGCCGCGCACCATCCAGCATG	0.592000													155	116					8.37322e-65	1.59316e-64	1	1	0
TBC1D3P2	440452	broad.mit.edu	37	17	60342480	60342480	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:60342480G>T	ENST00000581291.1	-	0	1673																				breast(2)|kidney(1)|lung(2)	5						TGAAGGGGGTGCCCTGGTCGG	0.622000													31	170					5.77227e-19	8.80657e-19	1	1	0
SPTA1	6708	broad.mit.edu	37	1	158631160	158631160	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:158631160T>A	ENST00000368148.3	-	18	2684	c.2504A>T	c.(2503-2505)cAt>cTt	p.H835L	SPTA1_ENST00000368147.3_Missense_Mutation_p.H835L	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	835					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATGACTCTATGCCTATTCAG	0.423000													75	68					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35090087	35090087	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:35090087G>C	ENST00000311875.5	-	5	841	c.424C>G	c.(424-426)Cag>Gag	p.Q142E	TCP11_ENST00000244645.3_Missense_Mutation_p.Q67E|TCP11_ENST00000418521.2_Missense_Mutation_p.Q66E|TCP11_ENST00000412155.2_Missense_Mutation_p.Q91E|TCP11_ENST00000444780.2_Missense_Mutation_p.Q137E|TCP11_ENST00000512012.1_Missense_Mutation_p.Q129E|TCP11_ENST00000373974.4_Missense_Mutation_p.Q96E|TCP11_ENST00000373979.2_Missense_Mutation_p.Q67E			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	129					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGGCGGTTCTGGCGTGGTAAT	0.463000													94	13					0	0	1	0	0
LVRN	206338	broad.mit.edu	37	5	115336937	115336937	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:115336937G>T	ENST00000357872.4	+	10	1944		c.e10+1		AQPEP_ENST00000395528.2_Splice_Site	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN							proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										TAACCAGCAAGTAGGTAGCTT	0.468000													38	84					1.08052e-11	1.44523e-11	1	1	0
PTBP2	58155	broad.mit.edu	37	1	97272445	97272445	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:97272445G>T	ENST00000236228.6	+	11	1184	c.1102G>T	c.(1102-1104)Gtg>Ttg	p.V368L	PTBP2_ENST00000426398.2_Missense_Mutation_p.V368L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.V373L|PTBP2_ENST00000541987.1_Silent_p.V325V|PTBP2_ENST00000370198.1_Missense_Mutation_p.V373L|PTBP2_ENST00000394184.3_Missense_Mutation_p.V384L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	368	RRM 3.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TGTGCAGCGTGTGAAGATTTT	0.348000													9	46					0.000442599	0.00048325	1	1	0
MGAT4B	11282	broad.mit.edu	37	5	179227064	179227064	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:179227064T>C	ENST00000337755.5	-	7	1731	c.845A>G	c.(844-846)gAg>gGg	p.E282G	MGAT4B_ENST00000292591.7_Missense_Mutation_p.E267G	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	267					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGTCATCCTCCAGCTGCGA	0.627000													45	10					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597426	247597426	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:247597426G>C	ENST00000366497.2	+	6	3129	c.2349G>C	c.(2347-2349)tcG>tcC	p.S783S	NLRP3_ENST00000366496.2_Silent_p.S783S|NLRP3_ENST00000336119.3_Silent_p.S783S|NLRP3_ENST00000391828.3_Silent_p.S783S|NLRP3_ENST00000348069.2_Silent_p.S726S|NLRP3_ENST00000391827.2_Silent_p.S726S	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	840					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTGGCCTCTCGCATGAGTGCT	0.562000													26	74					0	0	1	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552576	106552576	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:106552576C>A	ENST00000390600.2	-	0	142																											CCACCAGCTGCACTTCACACT	0.517000													47	50					1.57945e-13	2.19763e-13	1	1	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351339	118351339	+	Missense_Mutation	SNP	G	G	T	rs116575931	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:118351339G>T	ENST00000528052.1	+	3	177	c.106G>T	c.(106-108)Ggg>Tgg	p.G36W	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.G36W|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.G36W|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.G36W			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	36					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCCCTGGGGCGGGACAGCAAT	0.507000													91	25					1.42074e-37	2.55595e-37	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525578	248525578	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:248525578C>G	ENST00000366475.1	+	1	696	c.696C>G	c.(694-696)taC>taG	p.Y232*		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTTCATGTACTTGTGCTGTG	0.488000													88	67					0	0	1	0	0
MRPS17	51373	broad.mit.edu	37	7	56020943	56020943	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:56020943G>T	ENST00000285298.4	+	2	184	c.55G>T	c.(55-57)Ggg>Tgg	p.G19W	MRPS17_ENST00000426595.1_Missense_Mutation_p.G114W	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	19					translation	mitochondrial small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAAGGTGATTGGGACAAAAAT	0.443000													51	15					3.94638e-17	5.85846e-17	1	1	0
C7	730	broad.mit.edu	37	5	40936442	40936442	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:40936442C>A	ENST00000313164.9	+	5	642	c.283C>A	c.(283-285)Cag>Aag	p.Q95K		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	95	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GTGTTCAGGTCAGTGCATCAG	0.463000													12	22					0.00185496	0.0019788	1	1	0
DSG4	147409	broad.mit.edu	37	18	28986191	28986191	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:28986191G>A	ENST00000359747.4	+	12	1817	c.1788G>A	c.(1786-1788)ctG>ctA	p.L596L	RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.L596L|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	596					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACATGTGCCTGGACTCTGGTG	0.493000													28	42					0	0	1	0	0
OR2D3	120775	broad.mit.edu	37	11	6942412	6942412	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:6942412C>A	ENST00000317834.3	+	1	208	c.180C>A	c.(178-180)ctC>ctA	p.L60L		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GAAACCAGCTCATCATCATTC	0.423000													45	69					2.35958e-20	3.68701e-20	1	1	0
BNC1	646	broad.mit.edu	37	15	83932756	83932756	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:83932756G>T	ENST00000345382.2	-	4	1332	c.1247C>A	c.(1246-1248)cCa>cAa	p.P416Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.P409Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	416					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TCTGTTCATTGGCATGTGCAG	0.542000													68	16					1.33661e-31	2.34776e-31	1	1	0
DMGDH	29958	broad.mit.edu	37	5	78338268	78338268	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:78338268C>T	ENST00000255189.3	-	7	1059	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	DMGDH_ENST00000540686.1_Intron|DMGDH_ENST00000380311.4_Missense_Mutation_p.R143Q	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	344					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TTCCATGATTCGATCTAGATC	0.428000													6	88					0	0	1	0	0
ACSF3	197322	broad.mit.edu	37	16	89169122	89169122	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:89169122G>A	ENST00000317447.4	+	4	1154	c.777G>A	c.(775-777)tgG>tgA	p.W259*	ACSF3_ENST00000406948.3_Nonsense_Mutation_p.W259*|ACSF3_ENST00000378345.4_De_novo_Start_InFrame	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	259					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTCCTCTCTGGGTGGGAGCCA	0.617000													9	47					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000795	142000795	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142000795G>T	ENST00000455382.2	+	0	49																											AGCTAGGAAAGGCCTCATTCC	0.522000													25	40					7.87624e-14	1.10312e-13	1	1	0
H1FOO	132243	broad.mit.edu	37	3	129270135	129270135	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:129270135C>A	ENST00000324382.2	+	5	998	c.993C>A	c.(991-993)ccC>ccA	p.P331P	H1FOO_ENST00000503977.1_Silent_p.P192P	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	331					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						CTGGGCTGCCCATCAAGGCCT	0.592000													16	29					0.00074312	0.000802527	1	1	0
OLFML2B	25903	broad.mit.edu	37	1	161967784	161967784	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:161967784C>T	ENST00000294794.3	-	6	1728	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	OLFML2B_ENST00000367940.2_Silent_p.P436P	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	435										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)			GAGACACTGCCGGAGGAGCTG	0.612000													37	53					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135893221	135893221	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:135893221G>A	ENST00000264158.8	+	17	1685	c.1642G>A	c.(1642-1644)Gat>Aat	p.D548N	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.D504N|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.D548N	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	548						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ATATCCAGGGGATGCTGGAAA	0.403000													17	11					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124393414	124393414	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:124393414G>A	ENST00000360013.3	+	49	7273	c.7146G>A	c.(7144-7146)gcG>gcA	p.A2382A	KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000291478.4_Silent_p.A685A|KALRN_ENST00000393496.1_Silent_p.A722A	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2381	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATCCTGGCGCCCCTCACCA	0.592000													3	17					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21474890	21474890	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:21474890G>T	ENST00000313654.9	+	44	5722	c.5481G>T	c.(5479-5481)atG>atT	p.M1827I	LAMA3_ENST00000399516.3_Missense_Mutation_p.M1827I|LAMA3_ENST00000269217.6_Missense_Mutation_p.M218I|LAMA3_ENST00000587184.1_Missense_Mutation_p.M218I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1827	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGTGTGATGACCCTCCTGA	0.607000													10	89					3.07112e-06	3.56816e-06	1	1	0
RYR2	6262	broad.mit.edu	37	1	237831200	237831200	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:237831200G>T	ENST00000366574.2	+	58	8849	c.8532G>T	c.(8530-8532)atG>atT	p.M2844I	RYR2_ENST00000542537.1_Missense_Mutation_p.M2828I|RYR2_ENST00000360064.6_Missense_Mutation_p.M2842I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2844	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGAAATGATGGCTGAAAACT	0.264000													6	4					0.00198382	0.0021102	1	1	0
ZNF516	9658	broad.mit.edu	37	18	74154840	74154840	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:74154840C>A	ENST00000443185.2	-	3	488	c.171G>T	c.(169-171)acG>acT	p.T57T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTTCTCGCCCGTGTGCTTGC	0.612000													14	6					7.93312e-07	9.41583e-07	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737890	62737890	+	Missense_Mutation	SNP	G	G	C	rs139545244		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:62737890G>C	ENST00000369768.1	-	1	634	c.295C>G	c.(295-297)Ccc>Gcc	p.P99A		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	99						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					ATGTTGACGGGCAGTACCAGC	0.597000													14	10					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231473257	231473257	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:231473257A>G	ENST00000366645.1	-	1	341	c.223T>C	c.(223-225)Tac>Cac	p.Y75H	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_Missense_Mutation_p.Y79H			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	79					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCTCCAGGTAGGAGATCTCG	0.622000													22	21					0	0	1	0	0
TRMT11	60487	broad.mit.edu	37	6	126333971	126333971	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:126333971C>T	ENST00000334379.5	+	10	1101	c.980C>T	c.(979-981)cCa>cTa	p.P327L	TRMT11_ENST00000368332.3_Missense_Mutation_p.P327L	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	327					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		AAGGAGATACCAAAGGGGATA	0.383000													14	28					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316676	40316676	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:40316676G>T	ENST00000593685.1	-	11	2037	c.1569C>A	c.(1567-1569)caC>caA	p.H523Q	DYRK1B_ENST00000323039.5_Missense_Mutation_p.H523Q|DYRK1B_ENST00000430012.2_Missense_Mutation_p.H483Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.H495Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.H495Q			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	523					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GATGTGTCTTGTGGGGCACAT	0.647000													11	46					3.07112e-06	3.56816e-06	1	1	0
OVOL1	5017	broad.mit.edu	37	11	65561584	65561584	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:65561584G>C	ENST00000335987.3	+	2	535	c.183G>C	c.(181-183)ttG>ttC	p.L61F	OVOL1_ENST00000532448.1_5'UTR	NM_004561.3	NP_004552.2	O14753	OVOL1_HUMAN	ovo-like zinc finger 1	61					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		CGCTGGCTTTGAACATGAGCC	0.642000													22	56					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179501842	179501842	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:179501842G>T	ENST00000263966.3	+	21	2976	c.2505G>T	c.(2503-2505)gtG>gtT	p.V835V	USP13_ENST00000496897.1_Silent_p.V770V	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	835					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			TCAGATGGGTGATTTACAATG	0.393000													44	84					3.76604e-16	5.49738e-16	1	1	0
PLEKHG2	64857	broad.mit.edu	37	19	39911931	39911931	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:39911931G>T	ENST00000425673.1	+	14	1733	c.1408G>T	c.(1408-1410)Gga>Tga	p.G470*	PLEKHG2_ENST00000409797.2_Nonsense_Mutation_p.G499*|PLEKHG2_ENST00000378550.1_Nonsense_Mutation_p.G499*|PLEKHG2_ENST00000409794.3_Nonsense_Mutation_p.G499*|PLEKHG2_ENST00000458508.2_Nonsense_Mutation_p.G440*			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	499					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	p.G440R(1)|p.G457R(1)|p.G499R(1)		breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGCTAAGCCTGGATTCAAGGT	0.468000													35	23					9.93527e-08	1.21713e-07	1	1	0
LRP2	4036	broad.mit.edu	37	2	170027171	170027171	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:170027171C>A	ENST00000263816.3	-	59	11555	c.11270G>T	c.(11269-11271)cGg>cTg	p.R3757L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3757	LDL-receptor class A 32.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGTGCACTCCCGGGGAGCTGG	0.542000													60	58					1.4709e-25	2.4504e-25	1	1	0
LCK	3932	broad.mit.edu	37	1	32740506	32740506	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:32740506G>A	ENST00000373564.3	+	2	274	c.274G>A	c.(274-276)Ggt>Agt	p.G92S	LCK_ENST00000333070.4_Intron|LCK_ENST00000336890.5_Intron			P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	201	SH3.				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	CTTTCTCCCCGGTCTTGCCTT	0.597000			T	TRB@	T-ALL								25	18					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34997027	34997027	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:34997027T>A	ENST00000541010.1	+	3	3830	c.818T>A	c.(817-819)cTg>cAg	p.L273Q	DNAJB5_ENST00000454002.2_Missense_Mutation_p.L345Q|DNAJB5_ENST00000312316.5_Missense_Mutation_p.L273Q|DNAJB5_ENST00000453597.3_Missense_Mutation_p.L387Q|DNAJB5_ENST00000545841.1_Missense_Mutation_p.L273Q|DNAJB5_ENST00000335998.3_Missense_Mutation_p.L307Q			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	273					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			TCCCAGGCGCTGTGTGGCTGC	0.552000													62	33					0	0	1	0	0
TNFRSF1B	7133	broad.mit.edu	37	1	12262119	12262119	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:12262119G>C	ENST00000376259.3	+	9	1085	c.996G>C	c.(994-996)gaG>gaC	p.E332D	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	332					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCTCCCTGGAGAGCTCGGCCA	0.706000													5	1					0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699744	136699744	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:136699744C>A	ENST00000445907.2	+	3	660	c.132C>A	c.(130-132)gtC>gtA	p.V44V	AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000453373.1_Silent_p.V44V|CHRM2_ENST00000402486.3_Silent_p.V44V|AC009264.1_ENST00000597642.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Silent_p.V44V|AC009264.1_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Silent_p.V44V|CHRM2_ENST00000401861.1_Silent_p.V44V|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000439694.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	44					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ACATCCTAGTCATGGTTTCCA	0.448000													53	96					6.27289e-28	1.07021e-27	1	1	0
SULT1E1	6783	broad.mit.edu	37	4	70723321	70723321	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:70723321G>C	ENST00000226444.3	-	2	154	c.42C>G	c.(40-42)gtC>gtG	p.V14V		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	14					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAATCCCATGGACTTCTTCAA	0.338000													24	44					0	0	1	0	0
ZIC3	7547	broad.mit.edu	37	X	136649891	136649891	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:136649891C>T	ENST00000287538.5	+	1	1591	c.1041C>T	c.(1039-1041)atC>atT	p.I347I	ZIC3_ENST00000370606.3_Silent_p.I347I	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	347	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					ACCTCAAGATCCACAAGAGGA	0.607000													13	68					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577375	9577375	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:9577375G>T	ENST00000301480.4	-	10	2461	c.2248C>A	c.(2248-2250)Cgt>Agt	p.R750S		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	750					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GAGGATGTACGGAAGGCCTTC	0.443000													97	29					9.47799e-51	1.76938e-50	1	1	0
LINC00639	283547	broad.mit.edu	37	14	39305001	39305001	+	RNA	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:39305001G>C	ENST00000553932.1	-	0	3561																											GAGGACTGACGCTGTTGGCCT	0.597000													12	4					0	0	1	0	0
UBR7	55148	broad.mit.edu	37	14	93688707	93688707	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:93688707C>T	ENST00000013070.6	+	10	1408	c.1172C>T	c.(1171-1173)gCt>gTt	p.A391V	UBR7_ENST00000416753.1_Missense_Mutation_p.A315V	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	391							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						AAGAGATTTGCTGATGAAGGC	0.318000													12	37					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114090	147114090	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:147114090C>A	ENST00000383075.3	-	3	749	c.237G>T	c.(235-237)ccG>ccT	p.P79P	ZIC4_ENST00000473123.1_Silent_p.P79P|ZIC4_ENST00000484399.1_Silent_p.P79P|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Silent_p.P117P|ZIC4_ENST00000525172.2_Silent_p.P129P	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	79						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CAGGCCCTGGCGGGAAGGGCT	0.716000													14	14					4.36969e-10	5.69094e-10	1	1	0
RPAP2	79871	broad.mit.edu	37	1	92789788	92789788	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:92789788G>T	ENST00000370343.3	+	8	1420	c.1311G>T	c.(1309-1311)agG>agT	p.R437S		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	437						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		TACCTTTTAGGGGCTCAGGTA	0.413000													48	51					1.86633e-21	2.963e-21	1	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885612	88885612	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:88885612C>T	ENST00000319675.3	-	1	684	c.588G>A	c.(586-588)gcG>gcA	p.A196A		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGAGTGATACGCGTGGATGC	0.557000													21	139					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236145043	236145043	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:236145043C>T	ENST00000264187.6	-	16	3177	c.3095G>A	c.(3094-3096)gGc>gAc	p.G1032D	NID1_ENST00000366595.3_Missense_Mutation_p.G899D	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1032					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GATGTTGCGGCCAAGGTGATC	0.478000													14	46					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2418817	2418817	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:2418817C>T	ENST00000360876.4	+	17	2337	c.2281C>T	c.(2281-2283)Cgg>Tgg	p.R761W	EIF3B_ENST00000397011.2_Missense_Mutation_p.R761W	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	761					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCGGAAGTACCGGAAAATGGC	0.532000													17	59					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071545	240071545	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:240071545T>A	ENST00000255380.4	+	5	1573	c.794T>A	c.(793-795)cTt>cAt	p.L265H		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	265					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCAAAGAGCTTGCTGGCCTG	0.473000													48	26					0	0	1	0	0
MBNL1	4154	broad.mit.edu	37	3	152150694	152150694	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:152150694A>T	ENST00000282486.6	+	4	2376	c.534A>T	c.(532-534)cgA>cgT	p.R178R	MBNL1_ENST00000498502.1_Silent_p.R178R|MBNL1_ENST00000324210.5_Silent_p.R178R|MBNL1_ENST00000485509.1_Silent_p.R178R|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000492948.1_Silent_p.R178R|MBNL1_ENST00000324196.5_Silent_p.R178R|MBNL1_ENST00000355460.2_Silent_p.R178R|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000463374.1_Silent_p.R178R|MBNL1_ENST00000357472.3_Silent_p.R178R|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000493459.1_Silent_p.R121R			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	178					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATTAATGCGAACAGACAGAC	0.463000													40	56					0	0	1	0	0
MSN	4478	broad.mit.edu	37	X	64955188	64955188	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:64955188G>T	ENST00000360270.5	+	8	1027	c.855G>T	c.(853-855)atG>atT	p.M285I		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	285	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CCTTGTGCATGGGGAACCATG	0.542000			T	ALK	ALCL								6	3					0.00116845	0.00125275	1	1	0
PRDM9	56979	broad.mit.edu	37	5	23526427	23526427	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:23526427T>C	ENST00000296682.3	+	11	1412	c.1230T>C	c.(1228-1230)aaT>aaC	p.N410N		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	410					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACGCAATCACTCCTCTC	0.478000										HNSCC(3;0.000094)			17	129					0	0	1	0	0
TBC1D17	79735	broad.mit.edu	37	19	50384543	50384543	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:50384543C>T	ENST00000221543.5	+	5	637	c.338C>T	c.(337-339)cCc>cTc	p.P113L	TBC1D17_ENST00000598789.1_3'UTR|TBC1D17_ENST00000535102.2_Missense_Mutation_p.P80L	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	113						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCAGCTGCCCCCAGGGCTCC	0.632000													26	9					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191771	66191771	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:66191771G>T	ENST00000311034.2	+	7	1586	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	470					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGATCAGTTGACGCCCAGCA	0.542000													12	209					4.3838e-07	5.27476e-07	1	1	0
TNXB	7148	broad.mit.edu	37	6	32053749	32053749	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:32053749G>A	ENST00000375244.3	-	7	3127	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	TNXB_ENST00000375247.2_Missense_Mutation_p.R976C			P22105	TENX_HUMAN	tenascin XB	1063	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACACGGAGGCGCCCTGTCTCA	0.687000													54	11					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130189806	130189806	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:130189806T>A	ENST00000265379.6	+	39	8063	c.7569T>A	c.(7567-7569)acT>acA	p.T2523T	COL6A5_ENST00000432398.2_Silent_p.T2523T			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2523	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAGAAAACACTGTATTGTGAG	0.403000													5	12					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161012027	161012027	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:161012027G>T	ENST00000447678.1	-	24	3856	c.3736C>A	c.(3736-3738)Cca>Aca	p.P1246T	LPA_ENST00000316300.5_Missense_Mutation_p.P1246T	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3754	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTGTCACTGGACATTGTGTC	0.488000													10	19					2.17888e-05	2.4735e-05	1	1	0
TNRC6A	27327	broad.mit.edu	37	16	24788543	24788543	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:24788543G>C	ENST00000395799.3	+	5	582	c.453G>C	c.(451-453)agG>agC	p.R151S	TNRC6A_ENST00000315183.7_Missense_Mutation_p.R151S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	151					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCTAAAGAGGGGTCAGCATT	0.493000													81	77					0	0	1	0	0
METTL21C	196541	broad.mit.edu	37	13	103343188	103343188	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:103343188C>A	ENST00000267273.6	-	2	262	c.257G>T	c.(256-258)aGt>aTt	p.S86I		NM_001010977.1	NP_001010977.1	Q5VZV1	MT21C_HUMAN	methyltransferase like 21C	86							methyltransferase activity			breast(1)|large_intestine(3)|lung(2)|skin(1)	7						CGCTCCGTAACTCTCTATGGA	0.468000													19	31					1.33834e-09	1.71593e-09	1	1	0
ZEB1	6935	broad.mit.edu	37	10	31809607	31809607	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:31809607C>A	ENST00000446923.2	+	7	1687	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	ZEB1_ENST00000361642.5_Silent_p.P449P|ZEB1_ENST00000560721.2_Silent_p.P428P|ZEB1_ENST00000542815.3_Silent_p.P381P|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.P448P	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	448					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)				ATGCTTCACCCATACAACAAG	0.393000													22	40					1.96292e-10	2.56544e-10	1	1	0
COL4A4	1286	broad.mit.edu	37	2	227968758	227968758	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:227968758C>A	ENST00000396625.3	-	13	953	c.746G>T	c.(745-747)gGt>gTt	p.G249V	COL4A4_ENST00000329662.7_Missense_Mutation_p.G249V	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	249	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCTTGCTGACCAACCTCACC	0.378000													10	24					2.17888e-05	2.4735e-05	1	1	0
PLA2G2E	30814	broad.mit.edu	37	1	20249179	20249179	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:20249179A>T	ENST00000375116.3	-	2	167	c.110T>A	c.(109-111)cTg>cAg	p.L37Q		NM_014589.1	NP_055404.1	Q9NZK7	PA2GE_HUMAN	phospholipase A2, group IIE	37					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGTACTGCAGGGCGGACTT	0.607000													12	39					0	0	1	0	0
WSB1	26118	broad.mit.edu	37	17	25630661	25630661	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:25630661G>T	ENST00000262394.2	+	3	794	c.478_splice	c.e3+1	p.G160_splice	WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000581185.1_Splice_Site_p.G160_splice|WSB1_ENST00000427287.2_Splice_Site_p.G129_splice	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	160					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		TGTATATACAGGTATGGATTC	0.368000													62	113					1.39562e-46	2.5859e-46	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75038040	75038040	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:75038040G>T	ENST00000326665.5	-	14	3572	c.3354C>A	c.(3352-3354)ccC>ccA	p.P1118P	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1118	Glu-rich.							p.P1118P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTCATTTGGGGGAGCTTTTG	0.443000													23	64					7.41877e-09	9.33471e-09	1	1	0
ABCA13	154664	broad.mit.edu	37	7	48356864	48356864	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:48356864A>T	ENST00000435803.1	+	27	9994	c.9970A>T	c.(9970-9972)Act>Tct	p.T3324S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3324					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CACACCAAACACTCCAGAAAT	0.333000													17	33					0	0	1	0	0
CD44	960	broad.mit.edu	37	11	35231568	35231568	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:35231568G>T	ENST00000428726.2	+	13	1696	c.1573G>T	c.(1573-1575)Gac>Tac	p.D525Y	CD44_ENST00000263398.6_Intron|CD44_ENST00000433892.2_Missense_Mutation_p.D276Y|CD44_ENST00000278386.6_Intron|CD44_ENST00000360158.4_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.D482Y|CD44_ENST00000437706.2_Missense_Mutation_p.D525Y|CD44_ENST00000449691.2_Missense_Mutation_p.D482Y|CD44_ENST00000434472.2_Intron|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	525	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	AGAAGATAAAGACCATCCAAC	0.378000													33	61					3.93418e-24	6.45988e-24	1	1	0
AGBL1	123624	broad.mit.edu	37	15	86814851	86814851	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:86814851G>T	ENST00000441037.2	+	14	1946	c.1849_splice	c.e14-1	p.G617_splice	AGBL1_ENST00000421325.2_Splice_Site_p.G617_splice|AGBL1_ENST00000389298.3_Splice_Site_p.G348_splice	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	617					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTGTGTAGGGATGCAGCCCA	0.443000													42	19					2.77807e-22	4.46293e-22	1	1	0
STAC3	246329	broad.mit.edu	37	12	57643084	57643084	+	Missense_Mutation	SNP	C	C	T	rs146128235		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:57643084C>T	ENST00000332782.2	-	3	275	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	STAC3_ENST00000554578.1_5'UTR|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	25					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						CTGCTTTAGCCGCTGTAGCTG	0.547000													32	49					0	0	1	0	0
DNAJB5	25822	broad.mit.edu	37	9	34993419	34993419	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:34993419G>T	ENST00000541010.1	+	1	3201	c.189G>T	c.(187-189)ctG>ctT	p.L63L	DNAJB5_ENST00000454002.2_Silent_p.L135L|DNAJB5_ENST00000312316.5_Silent_p.L63L|DNAJB5_ENST00000453597.3_Silent_p.L177L|DNAJB5_ENST00000545841.1_Silent_p.L63L|DNAJB5_ENST00000335998.3_Silent_p.L97L			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	63	J.				protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AACGGGGCCTGTATGACCAGT	0.552000													42	18					8.69298e-16	1.25904e-15	1	1	0
LILRP2	79166	broad.mit.edu	37	19	55222040	55222040	+	RNA	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:55222040A>T	ENST00000413439.1	+	0	1567																											TGCGTCTGAGATCAGAGCACC	0.592000													122	15					0	0	1	0	0
WNK2	65268	broad.mit.edu	37	9	96079818	96079818	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:96079818C>T	ENST00000297954.4	+	29	6644	c.6644C>T	c.(6643-6645)gCa>gTa	p.A2215V	WNK2_ENST00000395477.2_Missense_Mutation_p.A2178V|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_3'UTR|WNK2_ENST00000471076.1_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1790V|WNK2_ENST00000349097.3_Missense_Mutation_p.A1827V			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2215					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GCACCTCGAGCAGGAGTGGGG	0.647000													9	12					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42357021	42357021	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:42357021C>A	ENST00000554171.1	+	5	3625	c.1193C>A	c.(1192-1194)tCa>tAa	p.S398*	LRFN5_ENST00000554120.1_Nonsense_Mutation_p.S398*|LRFN5_ENST00000298119.4_Nonsense_Mutation_p.S398*			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	398						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TCAGATATCTCAACTTCTACC	0.378000										HNSCC(30;0.082)			24	49					6.44725e-10	8.36005e-10	1	1	0
PTCHD2	57540	broad.mit.edu	37	1	11561834	11561834	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:11561834A>T	ENST00000294484.6	+	2	923	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	PTCHD2_ENST00000389575.3_Missense_Mutation_p.Y262F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	262					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCGCGCGCCTATGTGAGTGCC	0.687000													4	10					0	0	1	0	0
NRROS	375387	broad.mit.edu	37	3	196386988	196386988	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:196386988G>T	ENST00000328557.4	+	3	677	c.474G>T	c.(472-474)tcG>tcT	p.S158S		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		ACCTCTCCTCGCTGCGGTCCG	0.672000													11	26					1.08611e-07	1.324e-07	1	1	0
UNC5C	8633	broad.mit.edu	37	4	96091389	96091389	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:96091389C>T	ENST00000453304.1	-	15	2894	c.2546G>A	c.(2545-2547)cGg>cAg	p.R849Q		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	849					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)		GAGCTTCTGCCGGATAGGGAG	0.602000													22	108					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158590079	158590079	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:158590079T>G	ENST00000368148.3	-	44	6478	c.6298A>C	c.(6298-6300)Aaa>Caa	p.K2100Q	SPTA1_ENST00000368147.3_Missense_Mutation_p.K2097Q	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2100					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAAACATTTAAAGTCTGCT	0.522000													40	47					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846823	140846823	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:140846823T>A	ENST00000371372.1	+	7	1209	c.1064T>A	c.(1063-1065)cTc>cAc	p.L355H	CACNA1B_ENST00000371363.1_Missense_Mutation_p.L355H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.L355H|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.L355H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.L355H	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	355					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTGGGCGTGCTCTCGGGGTGA	0.607000													11	25					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58209235	58209235	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:58209235C>G	ENST00000377918.3	+	1	2581	c.2555C>G	c.(2554-2556)tCc>tGc	p.S852C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	852					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ACTCGGATGTCCATAATTCAG	0.547000													22	5					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140080784	140080784	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:140080784C>A	ENST00000323927.2	-	3	769	c.765G>T	c.(763-765)cgG>cgT	p.R255R		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	255					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CGGCACTGACCCGCTCCAGCA	0.667000													4	7					0.00024832	0.000274352	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168101943	168101943	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:168101943G>A	ENST00000409195.1	+	9	4130	c.4041G>A	c.(4039-4041)gtG>gtA	p.V1347V	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V1125V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Silent_p.V1347V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1172					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGGAGATGTGCGAGGAACAA	0.383000													46	71					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767509	31767509	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:31767509G>T	ENST00000240587.4	-	2	3517	c.3190C>A	c.(3190-3192)Cac>Aac	p.H1064N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1064					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GATTTCCCGTGTGTTTTGCTA	0.478000													44	49					2.35958e-20	3.68701e-20	1	1	0
PNPLA7	375775	broad.mit.edu	37	9	140356425	140356425	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:140356425C>A	ENST00000406427.1	-	32	4050	c.3714G>T	c.(3712-3714)atG>atT	p.M1238I	PNPLA7_ENST00000277531.4_Missense_Mutation_p.M1213I|PNPLA7_ENST00000371457.1_Missense_Mutation_p.M819I|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1213					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTCGCGGAGCATCTTCTCCA	0.706000													6	1					8.12818e-05	9.07474e-05	1	1	0
CTR9	9646	broad.mit.edu	37	11	10778370	10778370	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:10778370A>G	ENST00000361367.2	+	5	1003	c.577A>G	c.(577-579)Aac>Gac	p.N193D		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	193					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ATTGCGTACTAACCCAGGATG	0.338000													26	72					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47969538	47969538	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:47969538C>A	ENST00000236877.6	-	2	518	c.123G>T	c.(121-123)ggG>ggT	p.G41G	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	41					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTGGCAGCCCCCTGTGCTGG	0.736000													15	4					0.000308642	0.000338731	1	1	0
LIME1	54923	broad.mit.edu	37	20	62369202	62369202	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:62369202A>T	ENST00000309546.3	+	3	214	c.127A>T	c.(127-129)Agg>Tgg	p.R43W	LIME1_ENST00000490824.1_3'UTR|ZGPAT_ENST00000490623.1_3'UTR	NM_017806.2	NP_060276.2			Lck interacting transmembrane adaptor 1											kidney(1)|large_intestine(1)|liver(1)	3	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCCAGGAAGAGGGCGCGGAG	0.766000													4	2					0	0	1	0	0
RASA4CP	401331	broad.mit.edu	37	7	44073841	44073841	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:44073841C>A	ENST00000446874.1	-	0	271																											TGGTAGGAGCCCAGCAGTCCG	0.597000													12	14					0.00136819	0.00146269	1	1	0
CCSAP	126731	broad.mit.edu	37	1	229478113	229478113	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:229478113G>A	ENST00000284617.2	-	2	224	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	CCSAP_ENST00000483092.1_5'UTR|CCSAP_ENST00000452552.1_Missense_Mutation_p.R34C|CCSAP_ENST00000366687.1_Missense_Mutation_p.R34C	NM_145257.3	NP_660300.3			centriole, cilia and spindle-associated protein																		CGGCCTAGGCGGTAGTGCAGC	0.716000													3	3					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99258147	99258147	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:99258147T>C	ENST00000343703.5	-	11	1357	c.971A>G	c.(970-972)gAg>gGg	p.E324G	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Missense_Mutation_p.E334G					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TGCATCAATCTCCTTTTGCAG	0.478000													10	63					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123600464	123600464	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:123600464A>C	ENST00000336139.4	-	4	834	c.472T>G	c.(472-474)Tca>Gca	p.S158A	ZNF202_ENST00000529691.1_Missense_Mutation_p.S158A|ZNF202_ENST00000530393.1_Missense_Mutation_p.S158A			O95125	ZN202_HUMAN	zinc finger protein 202	158					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCATTAGGTGACTCAGGCTCC	0.572000													8	25					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3738615	3738615	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:3738615G>A	ENST00000541714.2	+	12	1809	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	TJP3_ENST00000589378.1_Silent_p.L458L|TJP3_ENST00000539908.2_Silent_p.L413L|TJP3_ENST00000587686.1_Silent_p.L468L|TJP3_ENST00000262968.9_Silent_p.L482L|TJP3_ENST00000382008.3_Silent_p.L463L	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	463	PDZ 3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTGGGGCTGCCACCAGGCG	0.597000													51	16					0	0	1	0	0
CALCRL	10203	broad.mit.edu	37	2	188228128	188228128	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:188228128T>G	ENST00000409998.1	-	10	1383	c.602A>C	c.(601-603)aAc>aCc	p.N201T	AC007319.1_ENST00000412276.1_RNA|AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.N201T|CALCRL_ENST00000392370.3_Missense_Mutation_p.N201T			Q16602	CALRL_HUMAN	calcitonin receptor-like	201						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			TAAGGCCTGGTTGTTGGCCAC	0.423000													16	67					0	0	1	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29972708	29972708	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:29972708G>T	ENST00000378993.1	+	10	1944	c.1271G>T	c.(1270-1272)gGg>gTg	p.G424V	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.G424V	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	424	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CAAGAGACTGGGGAAGAAGAA	0.363000													18	4					1.00905e-13	1.40661e-13	1	1	0
PEAR1	375033	broad.mit.edu	37	1	156880456	156880456	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:156880456C>A	ENST00000338302.3	+	16	2097	c.1872C>A	c.(1870-1872)tgC>tgA	p.C624*	PEAR1_ENST00000292357.7_Nonsense_Mutation_p.C624*			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	624	EGF-like 8.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCAAGTGCGCTAACCACT	0.622000													27	27					1.1804e-14	1.67693e-14	1	1	0
CHST8	64377	broad.mit.edu	37	19	34263062	34263062	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:34263062G>T	ENST00000262622.3	+	4	1127	c.369G>T	c.(367-369)gcG>gcT	p.A123A	CHST8_ENST00000438847.2_Silent_p.A123A|CHST8_ENST00000434302.1_Silent_p.A123A	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	123					carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CAGCTGCGGCGACCATCCCGG	0.711000													17	22					1.02788e-11	1.37731e-11	1	1	0
ACTN2	88	broad.mit.edu	37	1	236924324	236924324	+	Nonsense_Mutation	SNP	G	G	T	rs145450474		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:236924324G>T	ENST00000366578.4	+	20	2543	c.2377G>T	c.(2377-2379)Gaa>Taa	p.E793*	ACTN2_ENST00000546208.1_Nonsense_Mutation_p.E287*|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.E793*	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	793	EF-hand 2.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGGTGAAGCCGAATTTGCCCG	0.512000													20	48					4.96729e-08	6.11042e-08	1	1	0
ACSF3	197322	broad.mit.edu	37	16	89169021	89169021	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:89169021C>T	ENST00000317447.4	+	4	1053	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	ACSF3_ENST00000406948.3_Silent_p.L226L|ACSF3_ENST00000378345.4_5'UTR	NM_001127214.2|NM_001243279.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	226					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GGTGACCGGGCTGGTCCACAA	0.622000													46	12					0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162279914	162279914	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:162279914C>T	ENST00000389554.3	+	6	1542	c.1225C>T	c.(1225-1227)Ccc>Tcc	p.P409S	TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000410035.1_Missense_Mutation_p.P122S	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	409						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCGCCTGACCCCCTCGCCCAA	0.682000													16	30					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807962	8807962	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:8807962C>A	ENST00000324436.3	-	1	1210	c.1090G>T	c.(1090-1092)Gcc>Tcc	p.A364S		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	364						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGGGTCTCGGCTGGCAGAGCG	0.677000													38	6					3.21399e-22	5.15766e-22	1	1	0
XIRP1	165904	broad.mit.edu	37	3	39227605	39227605	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:39227605G>T	ENST00000340369.3	-	2	3560	c.3332C>A	c.(3331-3333)cCc>cAc	p.P1111H	XIRP1_ENST00000396251.1_Missense_Mutation_p.P1111H|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1111							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGGATCCGGGGATCACTTCC	0.612000													44	18					2.84425e-11	3.78046e-11	1	1	0
ZNF12	7559	broad.mit.edu	37	7	6731966	6731966	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:6731966C>T	ENST00000405858.1	-	5	1148	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.E129K|ZNF12_ENST00000342651.5_Missense_Mutation_p.E165K	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	203					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AGACTTTCTTCATTTAGAGTA	0.338000													47	32					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140554760	140554760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140554760G>T	ENST00000231137.3	+	1	2518	c.2344G>T	c.(2344-2346)Gaa>Taa	p.E782*		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		782					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGGGAAGTGGAAGAAAATCG	0.448000													31	120					6.04164e-23	9.77983e-23	1	1	0
U2AF1L4	199746	broad.mit.edu	37	19	36234925	36234925	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:36234925T>C	ENST00000412391.2	-	6	483	c.470A>G	c.(469-471)cAg>cGg	p.Q157R	AD000671.6_ENST00000589807.1_Intron|U2AF1L4_ENST00000378975.3_Missense_Mutation_p.Q118R|U2AF1L4_ENST00000292879.5_Intron			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	157					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CATCTCATACTGGCGACAGCA	0.572000													58	53					0	0	1	0	0
KRT31	3881	broad.mit.edu	37	17	39551619	39551619	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39551619C>T	ENST00000251645.2	-	5	806	c.754G>A	c.(754-756)Gag>Aag	p.E252K		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	252	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TTCAGCTCCTCGGTCTGAAAC	0.622000													48	66					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165547659	165547659	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:165547659C>T	ENST00000264381.3	-	2	1329	c.1163G>A	c.(1162-1164)gGa>gAa	p.G388E	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	388					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTCACTCACTCCTGGAAAAAA	0.383000													23	40					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112968605	112968605	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:112968605C>A	ENST00000495514.1	+	0	660				BOC_ENST00000355385.3_De_novo_Start_OutOfFrame|BOC_ENST00000484034.1_De_novo_Start_OutOfFrame|BOC_ENST00000273395.4_De_novo_Start_OutOfFrame|BOC_ENST00000485230.1_De_novo_Start_OutOfFrame			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated						cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTTGTGTGACCCTGGCGGCTT	0.567000													9	23					1.12685e-05	1.29006e-05	1	1	0
TMEM260	54916	broad.mit.edu	37	14	57070541	57070541	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:57070541G>C	ENST00000261556.6	+	4	475	c.353G>C	c.(352-354)gGc>gCc	p.G118A	TMEM260_ENST00000536419.1_Intron|TMEM260_ENST00000538838.1_Missense_Mutation_p.G118A	NM_017799.3	NP_060269.3			transmembrane protein 260																		AGGCTTTCTGGCTCATCTGCT	0.398000													45	48					0	0	1	0	0
NOTUM	147111	broad.mit.edu	37	17	79916234	79916234	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:79916234C>T	ENST00000409678.3	-	5	952	c.569G>A	c.(568-570)gGg>gAg	p.G190E		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	190						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGATGAAGCCCCGCTCCAAAC	0.642000													7	28					0	0	1	0	0
DNAI2	64446	broad.mit.edu	37	17	72297276	72297276	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:72297276G>T	ENST00000579490.1	+	7	1262	c.1127G>T	c.(1126-1128)gGg>gTg	p.G376V	DNAI2_ENST00000311014.6_Missense_Mutation_p.G319V|DNAI2_ENST00000307504.5_Missense_Mutation_p.G176V|DNAI2_ENST00000446837.2_Missense_Mutation_p.G319V|DNAI2_ENST00000582036.1_Missense_Mutation_p.G319V			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	319					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AATGCCTTGGGGGCCATCTCC	0.537000									Kartagener syndrome				123	105					8.39346e-61	1.58685e-60	1	1	0
ADH7	131	broad.mit.edu	37	4	100349273	100349273	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:100349273G>T	ENST00000437033.2	-	4	821	c.318C>A	c.(316-318)aaC>aaA	p.N106K	ADH7_ENST00000209665.4_Missense_Mutation_p.N118K|ADH7_ENST00000476959.1_Missense_Mutation_p.N126K|ADH7_ENST00000482593.1_Missense_Mutation_p.N49K			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	118					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TGCCATCTGGGTTGCGACAAG	0.343000													34	36					1.22384e-17	1.82409e-17	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129634131	129634131	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:129634131C>G	ENST00000421865.2	+	23	3349	c.3300C>G	c.(3298-3300)taC>taG	p.Y1100*		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1100	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACTGGAACTACCCTCGCTGCA	0.468000													18	42					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204957970	204957970	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:204957970C>A	ENST00000367171.4	+	24	3407	c.3079C>A	c.(3079-3081)Ccc>Acc	p.P1027T	NFASC_ENST00000367172.4_Intron|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000367170.4_Intron|NFASC_ENST00000338586.6_Intron|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000339876.6_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000401399.1_Intron|NFASC_ENST00000495396.1_Intron			O94856	NFASC_HUMAN	neurofascin	1042					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGTAAAAGGTCCCAGCTAATT	0.592000													8	22					0.000274275	0.000301459	1	1	0
FKBP15	23307	broad.mit.edu	37	9	115946630	115946630	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:115946630C>A	ENST00000238256.3	-	17	1775	c.1658G>T	c.(1657-1659)aGc>aTc	p.S553I		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	553					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTGACATGCTAGGAATAAG	0.388000													3	12					1	1	1	1	0
COL9A1	1297	broad.mit.edu	37	6	70948955	70948955	+	Splice_Site	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:70948955A>T	ENST00000357250.6	-	33	2271		c.e33+1		COL9A1_ENST00000370499.4_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000489611.1_Splice_Site	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CACCATACTTACAGATCCCTT	0.259000													18	37					0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55240533	55240533	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:55240533C>G	ENST00000262093.5	-	3	410	c.259G>C	c.(259-261)Gac>Cac	p.D87H	FECH_ENST00000382873.3_Missense_Mutation_p.D93H|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	87					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				AGAAGGAAGTCGTGAACATCT	0.383000													11	37					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152081140	152081140	+	Missense_Mutation	SNP	A	A	C	rs71585886		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152081140A>C	ENST00000368804.1	-	2	4552	c.4553T>G	c.(4552-4554)cTc>cGc	p.L1518R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1518	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCGAGGAATTTTCT	0.587000													27	171					0	0	1	0	0
ERG	2078	broad.mit.edu	37	21	39775464	39775464	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:39775464C>T	ENST00000442448.1	-	6	848	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ERG_ENST00000398910.1_Missense_Mutation_p.D193N|ERG_ENST00000417133.2_Missense_Mutation_p.D193N|ERG_ENST00000398897.1_Missense_Mutation_p.D94N|ERG_ENST00000453032.2_Missense_Mutation_p.D94N|ERG_ENST00000398907.1_Missense_Mutation_p.D186N|ERG_ENST00000398919.2_Missense_Mutation_p.D193N|ERG_ENST00000429727.2_Intron|ERG_ENST00000288319.7_Missense_Mutation_p.D186N|ERG_ENST00000398911.1_Missense_Mutation_p.D193N|ERG_ENST00000398905.1_Missense_Mutation_p.D186N	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	193	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AGAAGGATGTCGGCGTTGTAG	0.512000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""								15	82					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619125	43619125	+	Silent	SNP	C	C	G	rs146662047	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:43619125C>G	ENST00000360835.3	-	11	1431	c.1305G>C	c.(1303-1305)ccG>ccC	p.P435P		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	435					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTGTGTGAGCCGGGCAGGAAA	0.647000													5	60					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72960041	72960041	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:72960041G>T	ENST00000264839.7	+	13	2250	c.2250G>T	c.(2248-2250)ttG>ttT	p.L750F	RIMS1_ENST00000522291.1_Missense_Mutation_p.L750F|RIMS1_ENST00000521978.1_Missense_Mutation_p.L750F|RIMS1_ENST00000348717.5_Missense_Mutation_p.L750F|RIMS1_ENST00000517827.1_Missense_Mutation_p.L209F|RIMS1_ENST00000518273.1_Missense_Mutation_p.L750F|RIMS1_ENST00000523963.1_Missense_Mutation_p.L224F|RIMS1_ENST00000491071.2_Missense_Mutation_p.L750F|RIMS1_ENST00000520567.1_Missense_Mutation_p.L750F|RIMS1_ENST00000401910.3_Missense_Mutation_p.L224F|RIMS1_ENST00000517960.1_Missense_Mutation_p.L750F|RIMS1_ENST00000425662.2_Missense_Mutation_p.L143F			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	750	C2 1.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGTGAAGTTGTGGTATGATA	0.348000													11	16					3.86212e-05	4.35441e-05	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47917145	47917145	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:47917145G>C	ENST00000289672.2	-	22	3655	c.3605C>G	c.(3604-3606)cCc>cGc	p.P1202R		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1202	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCATGGTGGGGCTGCACCTG	0.547000													40	67					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99642361	99642361	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:99642361G>T	ENST00000345514.2	-	3	865	c.599C>A	c.(598-600)cCg>cAg	p.P200Q	BCL11B_ENST00000443726.2_Missense_Mutation_p.P77Q|BCL11B_ENST00000357195.3_Missense_Mutation_p.P271Q	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	271						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CACGGCCTCCGGCCCGAGCGG	0.721000			T	TLX3	T-ALL								5	10					0.014758	0.0152718	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31039535	31039535	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:31039535C>T	ENST00000355537.3	+	4	3156	c.3009C>T	c.(3007-3009)tgC>tgT	p.C1003C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACGGCTGCTTGTTTTGTG	0.572000													59	66					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126746583	126746583	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:126746583C>A	ENST00000339582.2	-	3	1502	c.694G>T	c.(694-696)Gtg>Ttg	p.V232L	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000405249.1_Missense_Mutation_p.V232L|GRM8_ENST00000358373.3_Missense_Mutation_p.V232L|GRM8_ENST00000444921.2_Missense_Mutation_p.V232L			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	232					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AAGGCCTCCACACCGCTCTCA	0.493000										HNSCC(24;0.065)			26	30					8.24728e-16	1.19566e-15	1	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799784	119799784	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:119799784G>A	ENST00000355624.3	-	2	1085	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.L216F|RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	216					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GGACCCAAGAGAAAAGGCTTT	0.438000													118	36					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299885	125299885	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:125299885C>T	ENST00000538699.1	-	2	103	c.23G>A	c.(22-24)aGc>aAc	p.S8N	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S8N	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	8										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTTTCCTGCTACCTGTTTG	0.761000													7	5					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47253067	47253067	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:47253067C>A	ENST00000396220.1	-	32	4123	c.4101G>T	c.(4099-4101)tgG>tgT	p.W1367C	PREX1_ENST00000371941.3_Missense_Mutation_p.W1367C			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1367					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTGCTCCAGCCACTTGCGGC	0.697000													17	4					1.15088e-07	1.39837e-07	1	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237417	84237417	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:84237417C>A	ENST00000324537.5	+	7	840	c.348C>A	c.(346-348)tcC>tcA	p.S116S	SH3GL3_ENST00000434347.1_Silent_p.S116S|SH3GL3_ENST00000427482.2_Silent_p.S108S|SH3GL3_ENST00000535412.1_Silent_p.S108S			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	108	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GGGAAGACTCCACCTTTGGTG	0.512000													35	19					2.68265e-12	3.64521e-12	1	1	0
TECPR1	25851	broad.mit.edu	37	7	97854379	97854379	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:97854379G>T	ENST00000447648.2	-	18	2848	c.2549C>A	c.(2548-2550)gCc>gAc	p.A850D	TECPR1_ENST00000379795.3_Missense_Mutation_p.A852D|TECPR1_ENST00000479975.1_5'UTR			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	850						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCCCCGAGGCATCGCTCCA	0.682000													3	3					1.23904e-05	1.41306e-05	1	1	0
TTN	7273	broad.mit.edu	37	2	179454313	179454313	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179454313A>T	ENST00000589042.1	-	304	62363	c.62139T>A	c.(62137-62139)gaT>gaA	p.D20713E	TTN_ENST00000359218.5_Missense_Mutation_p.D11773E|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11840E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D18145E|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D19072E|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D11648E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19072							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)			TTTCCCAGTCATCGGAGCCCT	0.418000													16	152					0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43890087	43890087	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:43890087C>T	ENST00000562955.1	+	16	2455	c.2455C>T	c.(2455-2457)Ctc>Ttc	p.L819F	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	819						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGCCCAGCTCCTCTCCATCCT	0.587000													21	49					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123785833	123785833	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:123785833G>T	ENST00000422452.2	-	8	1573	c.1510C>A	c.(1510-1512)Cct>Act	p.P504T	TENM1_ENST00000371130.3_Missense_Mutation_p.P504T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGATACCAAGGTCCTTGATCC	0.433000													37	70					3.76114e-14	5.28765e-14	1	1	0
CNTFR	1271	broad.mit.edu	37	9	34557932	34557932	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:34557932C>A	ENST00000378980.3	-	5	663	c.370G>T	c.(370-372)Ggc>Tgc	p.G124C	CNTFR_ENST00000351266.4_Missense_Mutation_p.G124C	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	124	Fibronectin type-III 1.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		CAGTAGAAGCCCTTGGGGTAA	0.627000													28	16					7.38237e-10	9.52274e-10	1	1	0
SLCO2A1	6578	broad.mit.edu	37	3	133654686	133654686	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:133654686C>A	ENST00000310926.4	-	13	2019	c.1746G>T	c.(1744-1746)cgG>cgT	p.R582R	SLCO2A1_ENST00000493729.1_Silent_p.R506R	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	582					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GCGAGTTCCACCGGATGCAGG	0.602000													6	11					3.59834e-05	4.06317e-05	1	1	0
NID1	4811	broad.mit.edu	37	1	236145047	236145047	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:236145047G>T	ENST00000264187.6	-	16	3173	c.3091C>A	c.(3091-3093)Ctt>Att	p.L1031I	NID1_ENST00000366595.3_Missense_Mutation_p.L898I	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1031					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TTGCGGCCAAGGTGATCAACA	0.478000													15	47					0.000422831	0.000463027	1	1	0
CCDC87	55231	broad.mit.edu	37	11	66359147	66359147	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:66359147C>A	ENST00000333861.3	-	1	1407	c.1340G>T	c.(1339-1341)cGg>cTg	p.R447L		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	447										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCAGAGACCCGTACGGCAGC	0.527000													32	64					3.99451e-17	5.91219e-17	1	1	0
SYP	6855	broad.mit.edu	37	X	49050734	49050734	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:49050734G>T	ENST00000263233.4	-	4	384	c.312C>A	c.(310-312)gcC>gcA	p.A104A	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Silent_p.A104A	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	104	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CAAAGAATTCGGCTGACGAGG	0.547000													25	5					1.85244e-09	2.36896e-09	1	1	0
TMEM26	219623	broad.mit.edu	37	10	63170201	63170201	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:63170201C>A	ENST00000399298.3	-	6	1354	c.986G>T	c.(985-987)cGg>cTg	p.R329L	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	329						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGTCTGTGCCCGGCAACCATG	0.597000													19	47					7.07596e-05	7.92977e-05	1	1	0
NID2	22795	broad.mit.edu	37	14	52478301	52478301	+	Missense_Mutation	SNP	C	C	T	rs142002042		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:52478301C>T	ENST00000216286.5	-	17	3520	c.3521G>A	c.(3520-3522)gGa>gAa	p.G1174E	NID2_ENST00000541773.1_Missense_Mutation_p.G1073E	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1174						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)					AGGCTCTGCTCCCAGTTCCAG	0.507000													49	88					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54914579	54914579	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:54914579C>A	ENST00000545554.1	+	30	6161	c.6161C>A	c.(6160-6162)gCc>gAc	p.A2054D	UNC13C_ENST00000539562.2_5'UTR|UNC13C_ENST00000260323.11_Missense_Mutation_p.A2054D|UNC13C_ENST00000537900.1_Missense_Mutation_p.A2052D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2054	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GACATCACTGCCACCCCAGGA	0.443000													54	10					1.17673e-23	1.92367e-23	1	1	0
ACOX1	51	broad.mit.edu	37	17	73945404	73945404	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:73945404T>C	ENST00000537812.1	-	12	2156	c.1508A>G	c.(1507-1509)gAa>gGa	p.E503G	ACOX1_ENST00000293217.5_Missense_Mutation_p.E541G|ACOX1_ENST00000301608.4_Missense_Mutation_p.E541G	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	541					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						GAGGAGTTTTTCTGAAAAGAG	0.378000													23	154					0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153069054	153069054	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:153069054G>C	ENST00000164640.4	-	8	2255	c.2064C>G	c.(2062-2064)gcC>gcG	p.A688A	PDZD4_ENST00000393758.2_Silent_p.A613A|PDZD4_ENST00000544474.1_Silent_p.A579A	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	688						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGCTCACGGGCCCGGATCA	0.642000													49	9					0	0	1	0	0
LRRC28	123355	broad.mit.edu	37	15	99901705	99901705	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:99901705G>T	ENST00000301981.3	+	8	1100	c.860G>T	c.(859-861)aGc>aTc	p.S287I	LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.S218I|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.S287I|LRRC28_ENST00000442993.2_3'UTR	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	287										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			ACCTACCACAGCTTGCTGAAA	0.468000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	52	50					3.39706e-21	5.37596e-21	1	1	0
PHIP	55023	broad.mit.edu	37	6	79726270	79726270	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:79726270C>A	ENST00000275034.4	-	13	1393	c.1226G>T	c.(1225-1227)cGt>cTt	p.R409L		NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	409					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CCCTGCTGGACGAGTAGCCAT	0.358000													27	77					1.77063e-15	2.55452e-15	1	1	0
SLC26A10	65012	broad.mit.edu	37	12	58014207	58014207	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:58014207G>T	ENST00000379218.2	+	1	515	c.204G>T	c.(202-204)ttG>ttT	p.L68F	SLC26A10_ENST00000320442.4_Missense_Mutation_p.L68F			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	68						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TCTACAGCTTGCTAGGTACTG	0.532000													66	278					9.61844e-40	1.74731e-39	1	1	0
HRNR	388697	broad.mit.edu	37	1	152190877	152190877	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152190877A>T	ENST00000368801.2	-	3	3303	c.3228T>A	c.(3226-3228)caT>caA	p.H1076Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1076					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGCCCATGGGTAGAGG	0.562000													249	390					0	0	1	0	0
HOXA4	3201	broad.mit.edu	37	7	27168919	27168919	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:27168919T>C	ENST00000360046.5	-	2	953	c.888A>G	c.(886-888)aaA>aaG	p.K296K	HOXA4_ENST00000428284.2_Silent_p.K296K|HOXA3_ENST00000467897.2_5'UTR|HOXA-AS2_ENST00000521159.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	296						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						GAGTTTGTGCTTTCCCTGGTG	0.557000													51	57					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698450	150698450	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:150698450C>A	ENST00000297494.3	+	11	1722	c.1365C>A	c.(1363-1365)agC>agA	p.S455R	NOS3_ENST00000467517.1_Missense_Mutation_p.S455R|NOS3_ENST00000461406.1_Missense_Mutation_p.S249R|NOS3_ENST00000484524.1_Missense_Mutation_p.S455R	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	455	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TCTCGGGCAGCCTCACTCCTG	0.637000													45	69					4.67007e-22	7.48621e-22	1	1	0
SERPINA5	5104	broad.mit.edu	37	14	95058418	95058418	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:95058418G>A	ENST00000329597.7	+	6	1273	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	SERPINA5_ENST00000554866.1_Missense_Mutation_p.V355M|SERPINA5_ENST00000554276.1_Missense_Mutation_p.V355M|SERPINA3_ENST00000553947.1_5'UTR|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V355M	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	355					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGTGGTGGAGGTGGACGAGTC	0.577000													95	305					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227968759	227968759	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:227968759C>A	ENST00000396625.3	-	13	952	c.745G>T	c.(745-747)Ggt>Tgt	p.G249C	COL4A4_ENST00000329662.7_Missense_Mutation_p.G249C	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	249	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTTGCTGACCAACCTCACCC	0.383000													10	24					2.17888e-05	2.4735e-05	1	1	0
MTFMT	123263	broad.mit.edu	37	15	65316079	65316079	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:65316079G>A	ENST00000220058.4	-	3	486	c.473C>T	c.(472-474)cCt>cTt	p.P158L	MTFMT_ENST00000561025.1_Intron	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	158						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	ATGGATTACAGGGGCTGGGCC	0.418000													22	11					0	0	1	0	0
NTSR2	23620	broad.mit.edu	37	2	11798750	11798750	+	Missense_Mutation	SNP	G	G	A	rs145400490		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:11798750G>A	ENST00000306928.5	-	4	1122	c.1088C>T	c.(1087-1089)tCc>tTc	p.S363F		NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN	neurotensin receptor 2	363					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	TCTGAAGGAGGAGGACACGGC	0.537000													16	47					0	0	1	0	0
TEX26	122046	broad.mit.edu	37	13	31531029	31531029	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:31531029T>C	ENST00000380473.3	+	4	345	c.332T>C	c.(331-333)cTa>cCa	p.L111P		NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	111																	CTGTGGACACTACCTCACTGT	0.398000													21	33					0	0	1	0	0
TIMD4	91937	broad.mit.edu	37	5	156346551	156346551	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:156346551G>T	ENST00000274532.2	-	9	1110	c.1052_splice	c.e9-1	p.L352_splice	TIMD4_ENST00000406964.1_Splice_Site_p.L54_splice|TIMD4_ENST00000407087.3_Splice_Site_p.L324_splice	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	352						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGTAGTCTAGCCTGTAAACA	0.413000													21	12					8.10497e-08	9.94549e-08	1	1	0
ANKS6	203286	broad.mit.edu	37	9	101536273	101536273	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:101536273C>A	ENST00000353234.4	-	9	1754	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L	ANKS6_ENST00000375018.1_Silent_p.L569L|ANKS6_ENST00000540940.1_Silent_p.L374L|ANKS6_ENST00000375019.2_Silent_p.L268L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	569										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGAGCTCCACAGCTCAAAAC	0.622000													8	26					0.00448238	0.00471729	1	1	0
SRCIN1	80725	broad.mit.edu	37	17	36709070	36709070	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:36709070C>A	ENST00000264659.7	-	12	2447	c.2223G>T	c.(2221-2223)gaG>gaT	p.E741D	SRCIN1_ENST00000578925.1_Missense_Mutation_p.E775D|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	613					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTGGATCTTCTCCACCGATT	0.607000													21	42					7.45023e-12	1.00372e-11	1	1	0
MROH2B	133558	broad.mit.edu	37	5	41048527	41048527	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:41048527G>T	ENST00000399564.4	-	16	2033	c.1583C>A	c.(1582-1584)gCt>gAt	p.A528D	MROH2B_ENST00000506092.2_Missense_Mutation_p.A83D	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TATTGCACCAGCCCCACGTAA	0.453000													11	33					5.16669e-11	6.82462e-11	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75884986	75884986	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:75884986C>A	ENST00000322507.8	-	13	2787	c.2478G>T	c.(2476-2478)acG>acT	p.T826T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Silent_p.T826T|COL12A1_ENST00000416123.2_Silent_p.T826T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	826	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TAGTAGACGTCGTAGGGTCAG	0.393000													25	46					2.21704e-12	3.02249e-12	1	1	0
RGL1	23179	broad.mit.edu	37	1	183711407	183711407	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:183711407G>C	ENST00000304685.3	+	2	576	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L	RGL1_ENST00000367531.1_Missense_Mutation_p.V39L|RGL1_ENST00000536277.1_Missense_Mutation_p.V39L	NM_015149.3	NP_055964.3	Q9NZL6	RGL1_HUMAN	ral guanine nucleotide dissociation stimulator-like 1	0					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						AATATGGGAAGTTTTAAAGAC	0.428000													39	71					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777080	60777080	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:60777080G>T	ENST00000313421.7	+	5	1004	c.818G>T	c.(817-819)cGc>cTc	p.R273L	CD6_ENST00000344028.5_Missense_Mutation_p.R273L|CD6_ENST00000352009.5_Missense_Mutation_p.R273L|CD6_ENST00000452451.2_Missense_Mutation_p.R273L|CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Missense_Mutation_p.R273L	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	273	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						GGCGCTGACCGCTGCGAGGGG	0.632000													11	23					0.000673444	0.000728339	1	1	0
FZD9	8326	broad.mit.edu	37	7	72849512	72849512	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:72849512G>T	ENST00000344575.3	+	1	1404	c.1175G>T	c.(1174-1176)aGc>aTc	p.S392I		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	392					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TACGTGGCCAGCACGGATGCA	0.652000													23	8					6.32553e-13	8.71153e-13	1	1	0
OR2T12	127064	broad.mit.edu	37	1	248458410	248458410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:248458410C>A	ENST00000317996.1	-	1	470	c.471G>T	c.(469-471)caG>caT	p.Q157H		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TAGCAACAGCCTGCAGGAGGC	0.592000													15	69					0.000422831	0.000463027	1	1	0
UNC5B	219699	broad.mit.edu	37	10	73058922	73058922	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:73058922T>A	ENST00000335350.6	+	17	3142	c.2726T>A	c.(2725-2727)cTc>cAc	p.L909H	UNC5B_ENST00000373192.4_Missense_Mutation_p.L898H	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	909	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ATCCTGGACCTCTGGGAAGCT	0.607000													83	94					0	0	1	0	0
PLAG1	5324	broad.mit.edu	37	8	57079088	57079088	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:57079088G>A	ENST00000316981.3	-	5	1696	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	PLAG1_ENST00000429357.2_Missense_Mutation_p.S406F|PLAG1_ENST00000423799.2_Missense_Mutation_p.S324F	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	406	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Massively activates transcription.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding		CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			GTCACTGATGGAGATAGAGCT	0.453000			T	"""TCEA1, LIFR, CTNNB1, CHCHD7"""	salivary adenoma								46	58					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60786757	60786757	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:60786757C>G	ENST00000313421.7	+	13	2160	c.1974C>G	c.(1972-1974)gaC>gaG	p.D658E	CD6_ENST00000344028.5_Missense_Mutation_p.D626E|CD6_ENST00000352009.5_Missense_Mutation_p.D591E|CD6_ENST00000452451.2_Missense_Mutation_p.D582E|CD6_ENST00000346437.4_Missense_Mutation_p.D585E	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	658					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						ACTCCACCGACAACGATGACT	0.647000													4	19					0	0	1	0	0
SORCS1	114815	broad.mit.edu	37	10	108536371	108536371	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:108536371C>T	ENST00000263054.6	-	4	813	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	SORCS1_ENST00000344440.6_Missense_Mutation_p.R269Q	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	269						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GAAGTTCAGCCGGTACTTTTG	0.418000													39	29					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160969553	160969553	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:160969553C>A	ENST00000447678.1	-	32	5232	c.5112G>T	c.(5110-5112)ccG>ccT	p.P1704P	LPA_ENST00000316300.5_Silent_p.P1704P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4212	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGATGACAGTCGGAGGAGCGA	0.527000													16	36					0.000308642	0.000338731	1	1	0
MORC1	27136	broad.mit.edu	37	3	108836850	108836850	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:108836850G>C	ENST00000232603.5	-	1	139	c.57C>G	c.(55-57)caC>caG	p.H19Q	MORC1_ENST00000483760.1_Missense_Mutation_p.H19Q	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	19					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACGAGTTGGCGTGGATGAAAT	0.627000													2	2					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306399	109306399	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:109306399G>T	ENST00000299134.5	-	14	1362	c.1363C>A	c.(1363-1365)Cca>Aca	p.P455T		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						CCGGTGGCTGGACTCCTGCAG	0.612000													42	88					1.62263e-30	2.83007e-30	1	1	0
INF2	64423	broad.mit.edu	37	14	105176007	105176007	+	Silent	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:105176007C>G	ENST00000392634.4	+	12	2215	c.2103C>G	c.(2101-2103)gcC>gcG	p.A701A	INF2_ENST00000330634.7_Silent_p.A701A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	701	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGCCAGCGCCGACCACTTCT	0.652000													18	153					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566772	55566772	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:55566772C>T	ENST00000373965.2	-	36	5016	c.4622G>A	c.(4621-4623)aGt>aAt	p.S1541N	PCDH15_ENST00000414778.1_Missense_Mutation_p.S1538N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.S1538N(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGATATTACTGTGGATACT	0.453000										HNSCC(58;0.16)			29	44					0	0	1	0	0
ZRSR1	7310	broad.mit.edu	37	5	112227939	112227939	+	Silent	SNP	T	T	C	rs712666	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:112227939T>C	ENST00000391338.1	+	1	627	c.603T>C	c.(601-603)tcT>tcC	p.S201S	REEP5_ENST00000379638.4_Intron|REEP5_ENST00000504247.1_Intron|REEP5_ENST00000474542.2_Intron|SRP19_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron	NM_001204199.1	NP_001191128.1			zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1									p.S201S(1)		breast(1)|skin(1)|stomach(2)	4						TCCCAACATCTAGTCCTACCC	0.453000													8	146					0	0	1	0	0
PTPN12	5782	broad.mit.edu	37	7	77256328	77256328	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:77256328A>G	ENST00000248594.6	+	13	1604	c.1332A>G	c.(1330-1332)caA>caG	p.Q444Q	PTPN12_ENST00000415482.2_Silent_p.Q325Q|PTPN12_ENST00000435495.2_Silent_p.Q314Q	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	444						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCCCTCTCCAAGAGGGACCAA	0.338000													46	7					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67860646	67860646	+	Silent	SNP	T	T	A	rs148445363	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:67860646T>A	ENST00000255674.6	-	8	1171	c.885A>T	c.(883-885)gcA>gcT	p.A295A	RTTN_ENST00000454359.1_Silent_p.A295A|RTTN_ENST00000437017.1_Silent_p.A295A	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	295							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GAGTACCTCTTGCTTCATGAC	0.463000													25	14					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54972379	54972379	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:54972379G>T	ENST00000217109.4	+	3	638	c.286G>T	c.(286-288)Gct>Tct	p.A96S	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	96					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GTCCCCAGAGGCTTCTGAGTA	0.473000													70	70					1.26778e-28	2.17794e-28	1	1	0
IMPDH1	3614	broad.mit.edu	37	7	128035026	128035026	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:128035026G>C	ENST00000338791.6	-	14	1817	c.1467C>G	c.(1465-1467)gaC>gaG	p.D489E	IMPDH1_ENST00000470772.1_Missense_Mutation_p.D403E|IMPDH1_ENST00000354269.5_Missense_Mutation_p.D479E|IMPDH1_ENST00000348127.6_Missense_Mutation_p.D453E|IMPDH1_ENST00000419067.2_Missense_Mutation_p.D456E|IMPDH1_ENST00000343214.4_Missense_Mutation_p.D379E|IMPDH1_ENST00000480861.1_Missense_Mutation_p.D399E|IMPDH1_ENST00000378717.4_Missense_Mutation_p.D420E|IMPDH1_ENST00000496200.1_Missense_Mutation_p.D379E	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	404					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GCCGCACCCCGTCTGAGAAGA	0.607000													41	53					0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751129	19751129	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:19751129T>C	ENST00000400113.3	-	4	1098	c.994A>G	c.(994-996)Atc>Gtc	p.I332V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	332					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATGGTGGCGATGGCCGCGTTG	0.532000													50	11					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19209525	19209525	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:19209525C>T	ENST00000263200.10	-	16	2582	c.2510G>A	c.(2509-2511)aGa>aAa	p.R837K	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R837K|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R837K	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	837	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAACTGTCCTCTCACTGCCAT	0.463000			T	?	ALCL								12	110					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178988949	178988949	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:178988949G>T	ENST00000286070.5	+	8	1256	c.1164G>T	c.(1162-1164)gtG>gtT	p.V388V		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	390					cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			AAACTCCTGTGAAAGAAAGAC	0.338000													34	68					1.22384e-17	1.82409e-17	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18280159	18280159	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:18280159G>A	ENST00000377369.2	+	8	1622	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G450E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G450E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G316E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	450					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AAACTGATGGGATTAATTGGA	0.333000													40	41					0	0	1	0	0
FAM71F1	84691	broad.mit.edu	37	7	128370108	128370108	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:128370108C>A	ENST00000315184.5	+	6	1059	c.1006C>A	c.(1006-1008)Ctg>Atg	p.L336M	FAM71F1_ENST00000485070.1_Missense_Mutation_p.L235M	NM_032599.2	NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	336										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CGGGCCACAGCTGGCCCCACC	0.632000													59	76					7.10676e-39	1.28788e-38	1	1	0
GOLGA3	2802	broad.mit.edu	37	12	133384676	133384676	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:133384676C>T	ENST00000204726.3	-	5	1537	c.979G>A	c.(979-981)Ggg>Agg	p.G327R	GOLGA3_ENST00000450791.2_Missense_Mutation_p.G327R|GOLGA3_ENST00000545875.1_Missense_Mutation_p.G327R|GOLGA3_ENST00000456883.2_Missense_Mutation_p.G327R|GOLGA3_ENST00000537452.1_Missense_Mutation_p.G327R	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	327					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCATAGGTCCCTCGGGTGGAG	0.602000													39	43					0	0	1	0	0
PPTC7	160760	broad.mit.edu	37	12	110989774	110989774	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:110989774C>A	ENST00000354300.3	-	2	512		c.e2-1			NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)								metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TCTGCAACCCCTGAAGAAAAA	0.393000													32	38					1.74807e-11	2.3339e-11	1	1	0
RREB1	6239	broad.mit.edu	37	6	7229492	7229492	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:7229492A>G	ENST00000379938.2	+	10	1697	c.1160A>G	c.(1159-1161)gAc>gGc	p.D387G	RREB1_ENST00000349384.6_Missense_Mutation_p.D387G|RREB1_ENST00000379933.3_Missense_Mutation_p.D387G|RREB1_ENST00000334984.6_Missense_Mutation_p.D387G	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	387					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CTGCCGGATGACAACCAGGCA	0.627000													57	6					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250527	140250527	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140250527G>T	ENST00000398640.2	+	1	1839	c.1839G>T	c.(1837-1839)gcG>gcT	p.A613A	PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGCCGGCGGCGGGCGGCT	0.682000													73	12					2.49587e-40	4.54517e-40	1	1	0
ROCK1	6093	broad.mit.edu	37	18	18547804	18547804	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:18547804T>A	ENST00000399799.1	-	26	4041	c.3101A>T	c.(3100-3102)aAt>aTt	p.N1034I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1034					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAGCTTTCGATTTTCCTTTTC	0.343000													13	180					0	0	1	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283315	7283315	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:7283315C>A	ENST00000436587.2	+	4	1272	c.1049C>A	c.(1048-1050)gCa>gAa	p.A350E	C1GALT1_ENST00000223122.2_Missense_Mutation_p.A350E	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	350					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ATTAGTCAAGCAAACAAAAAT	0.323000													55	196					1.17673e-23	1.92367e-23	1	1	0
CHRND	1144	broad.mit.edu	37	2	233398943	233398943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:233398943C>A	ENST00000258385.3	+	11	1294	c.1262C>A	c.(1261-1263)cCa>cAa	p.P421Q	CHRND_ENST00000543200.1_Missense_Mutation_p.P406Q|CHRND_ENST00000457943.2_Missense_Mutation_p.P227Q	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	421					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.P421Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GGCCGGCCCCCAGCAAGCTCT	0.597000													14	24					7.93312e-07	9.41583e-07	1	1	0
BACH2	60468	broad.mit.edu	37	6	90660405	90660405	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:90660405G>A	ENST00000257749.4	-	7	2127	c.1420C>T	c.(1420-1422)Ctc>Ttc	p.L474F	BACH2_ENST00000537989.1_Missense_Mutation_p.L474F|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.L474F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	474						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GAGCTGGGGAGGGACTGGCCG	0.617000													12	27					0	0	1	0	0
GAS2L1	10634	broad.mit.edu	37	22	29708168	29708168	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:29708168A>T	ENST00000406549.3	+	6	1197	c.1047A>T	c.(1045-1047)aaA>aaT	p.K349N	GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000403764.1_3'UTR			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	366					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						TGGGTGGCAAATGTGGCCAAC	0.667000													31	40					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17202621	17202621	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:17202621G>A	ENST00000261381.6	-	12	2895	c.2811C>T	c.(2809-2811)gcC>gcT	p.A937A		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	937					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGGAGCTCCAGGCCGTCTGGC	0.662000													6	19					0	0	1	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65340055	65340055	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:65340055G>C	ENST00000284037.5	+	17	1908	c.1519G>C	c.(1519-1521)Gat>Cat	p.D507H	ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D507H|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D507H|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D507H|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D507H|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D507H	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	507					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TAGATTAAAAGATGAAGAGAC	0.333000													27	45					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121766213	121766213	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:121766213C>G	ENST00000261819.3	-	10	1331	c.1210G>C	c.(1210-1212)Gac>Cac	p.D404H	ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.D391H|ANAPC5_ENST00000535482.1_Missense_Mutation_p.D70H|ANAPC5_ENST00000441917.2_Missense_Mutation_p.D292H|ANAPC5_ENST00000344395.4_Missense_Mutation_p.D292H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	404					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGTCGGAGTCCTTTAGGGCA	0.542000													27	26					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121219331	121219331	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:121219331G>C	ENST00000297848.3	+	10	1459	c.1189G>C	c.(1189-1191)Gag>Cag	p.E397Q	COL14A1_ENST00000247781.3_Missense_Mutation_p.E302Q|COL14A1_ENST00000309791.4_Missense_Mutation_p.E397Q|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.E397Q	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	397	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AAAACCAGACGAGGTAATAAG	0.378000													8	27					0	0	1	0	0
ACBD5	91452	broad.mit.edu	37	10	27493467	27493467	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:27493467C>A	ENST00000396271.3	-	12	1593	c.1467G>T	c.(1465-1467)tgG>tgT	p.W489C	ACBD5_ENST00000375901.1_Missense_Mutation_p.W380C|ACBD5_ENST00000375905.4_Missense_Mutation_p.W454C|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Missense_Mutation_p.W498C|ACBD5_ENST00000375897.3_Missense_Mutation_p.W312C	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	498					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGAAGGGCCACCAAGATGGTC	0.368000													10	30					1.58986e-06	1.8632e-06	1	1	0
FLAD1	80308	broad.mit.edu	37	1	154962937	154962937	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:154962937G>A	ENST00000292180.3	+	5	1809	c.1487G>A	c.(1486-1488)tGt>tAt	p.C496Y	FLAD1_ENST00000368432.1_Missense_Mutation_p.C399Y|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.C399Y|FLAD1_ENST00000368428.1_Missense_Mutation_p.C37Y|FLAD1_ENST00000405236.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	496	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCTACTCCTGTAGCCTCTGC	0.622000													11	65					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45825049	45825049	+	Missense_Mutation	SNP	G	G	T	rs144022462		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:45825049G>T	ENST00000397928.1	+	17	3008	c.2563G>T	c.(2563-2565)Ggg>Tgg	p.G855W	TRPM2_ENST00000397932.2_Missense_Mutation_p.G855W|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.G835W|TRPM2_ENST00000300482.5_Missense_Mutation_p.G855W	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	855						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGACGAGTGCGGGCTGATGAA	0.537000													109	18					1.00528e-58	1.89816e-58	1	1	0
ARHGAP28	79822	broad.mit.edu	37	18	6851037	6851037	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:6851037G>T	ENST00000419673.2	+	3	288	c.71G>T	c.(70-72)cGt>cTt	p.R24L	ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R24L|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R24L|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R6L|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R24L|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R183L|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R183L|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R131L	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	0					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				CGTTAGCCTCGTGATACCTGT	0.403000													26	16					3.01185e-09	3.82204e-09	1	1	0
RHAG	6005	broad.mit.edu	37	6	49582519	49582519	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:49582519C>A	ENST00000371175.4	-	5	714	c.688G>T	c.(688-690)Gct>Tct	p.A230S	RHAG_ENST00000229810.7_Missense_Mutation_p.A230S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	230					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CCAGGTTCAGCAATGGCCGAG	0.498000													44	42					3.54909e-21	5.61058e-21	1	1	0
SLN	6588	broad.mit.edu	37	11	107578643	107578643	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:107578643G>T	ENST00000531293.1	-	3	366	c.14C>A	c.(13-15)aCc>aAc	p.T5N	SLN_ENST00000305991.2_Missense_Mutation_p.T5N|SLN_ENST00000525934.1_Missense_Mutation_p.T5N			O00631	SARCO_HUMAN	sarcolipin	5					calcium ion transport|regulation of calcium ion transport	integral to membrane|sarcoplasmic reticulum membrane	enzyme regulator activity			large_intestine(1)|lung(1)	2		Melanoma(852;1.46e-05)|all_epithelial(67;1.72e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;2.71e-05)|Epithelial(105;0.000112)|all cancers(92;0.00219)		CAGCTCCCGGGTGTTTATCCC	0.493000													42	29					2.58029e-29	4.44815e-29	1	1	0
ITGA9	3680	broad.mit.edu	37	3	37544799	37544799	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:37544799G>T	ENST00000264741.5	+	6	998		c.e6+1		ITGA9_ENST00000422441.1_Splice_Site	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9						axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		ACCTACCTGGGTGAGTACTCA	0.443000													15	14					1.49906e-05	1.70828e-05	1	1	0
FAT4	79633	broad.mit.edu	37	4	126371800	126371800	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:126371800G>T	ENST00000394329.3	+	9	9642	c.9629G>T	c.(9628-9630)gGa>gTa	p.G3210V	FAT4_ENST00000335110.5_Missense_Mutation_p.G1508V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3210	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCCCCAAGTGGAACAACAGTT	0.408000													45	46					1.36018e-38	2.4619e-38	1	1	0
DNAH17	8632	broad.mit.edu	37	17	76501442	76501442	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:76501442C>T	ENST00000389840.5	-	31	5001	c.4877G>A	c.(4876-4878)gGc>gAc	p.G1626D	DNAH17_ENST00000585328.1_Missense_Mutation_p.G1627D					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CATTCCCAGGCCCACCTTGAG	0.562000													16	43					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80046105	80046105	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:80046105T>A	ENST00000306749.2	-	17	2890	c.2672A>T	c.(2671-2673)tAc>tTc	p.Y891F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	891					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TATGCTCAGGTAGCCAGTGGC	0.662000													19	57					0	0	1	0	0
PLTP	5360	broad.mit.edu	37	20	44536370	44536370	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:44536370C>A	ENST00000542937.1	-	6	1168	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W	PLTP_ENST00000354050.4_Missense_Mutation_p.G140W|PLTP_ENST00000477313.1_Missense_Mutation_p.G192W|PLTP_ENST00000420868.2_Missense_Mutation_p.G97W|PLTP_ENST00000372420.1_Missense_Mutation_p.G104W|PLTP_ENST00000372431.3_Missense_Mutation_p.G192W			P55058	PLTP_HUMAN	phospholipid transfer protein	192					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				AGGACCGTCCCTGCGTGGTAG	0.642000													9	10					1.08611e-07	1.324e-07	1	1	0
CACNA1A	773	broad.mit.edu	37	19	13445269	13445269	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:13445269C>A	ENST00000360228.5	-	8	1120	c.1121G>T	c.(1120-1122)cGg>cTg	p.R374L	CACNA1A_ENST00000573710.2_Missense_Mutation_p.R374L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	374					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CAGAAAAGCCCGCCGGTTCTC	0.502000													52	9					6.81593e-30	1.18185e-29	1	1	0
CYP4F8	11283	broad.mit.edu	37	19	15739116	15739116	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:15739116G>T	ENST00000441682.2	+	0	1181							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTAGGGACGACCTGGCCCA	0.607000													50	46					3.37225e-12	4.5764e-12	1	1	0
PHKA1	5255	broad.mit.edu	37	X	71864287	71864287	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:71864287C>T	ENST00000373545.3	-	14	1822	c.1384G>A	c.(1384-1386)Gtg>Atg	p.V462M	PHKA1_ENST00000541944.1_Missense_Mutation_p.V462M|PHKA1_ENST00000373539.3_Missense_Mutation_p.V462M|PHKA1_ENST00000373542.4_Missense_Mutation_p.V462M|PHKA1_ENST00000339490.3_Missense_Mutation_p.V462M			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	462					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATGGTCTCCACGTAAATTCCC	0.428000													8	3					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67675815	67675815	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:67675815A>C	ENST00000545606.1	+	2	631	c.194A>C	c.(193-195)cAg>cCg	p.Q65P		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	65					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGAGAGGTACAGAATTTAGCT	0.343000													55	53					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367342	64367342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:64367342C>A	ENST00000377574.1	+	7	2012	c.1265C>A	c.(1264-1266)gCc>gAc	p.A422D	SLC22A12_ENST00000377572.1_Missense_Mutation_p.A314D|SLC22A12_ENST00000336464.7_Missense_Mutation_p.A388D|SLC22A12_ENST00000377567.2_Missense_Mutation_p.A314D|SLC22A12_ENST00000473690.1_Missense_Mutation_p.A201D	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	422					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						TGCATTCTGGCCAACACGCTG	0.677000													11	14					1.58986e-06	1.8632e-06	1	1	0
KIAA0947	23379	broad.mit.edu	37	5	5464213	5464213	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:5464213G>T	ENST00000296564.7	+	13	4988	c.4766G>T	c.(4765-4767)gGg>gTg	p.G1589V		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1589										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCATTTTCAGGGGAAAAAGCT	0.388000													25	38					9.57634e-11	1.25933e-10	1	1	0
CNTNAP4	85445	broad.mit.edu	37	16	76523735	76523735	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:76523735G>T	ENST00000307431.8	+	14	2417	c.2032G>T	c.(2032-2034)Gag>Tag	p.E678*	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.E682*|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.E606*|CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.E630*	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	679	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTGTGAACAGGAGTTTACTTA	0.443000													10	4					7.48243e-07	8.93083e-07	1	1	0
CCDC80	151887	broad.mit.edu	37	3	112324500	112324500	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:112324500C>T	ENST00000206423.3	-	8	3570	c.2617G>A	c.(2617-2619)Gga>Aga	p.G873R	CCDC80_ENST00000439685.2_Missense_Mutation_p.G873R	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	873										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTGACATTTCCGTCTTTTCCG	0.448000													23	31					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28725699	28725699	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:28725699G>T	ENST00000257197.3	-	7	1075	c.814C>A	c.(814-816)Cct>Act	p.P272T	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P272T	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	272	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAGTGTCAGGTTCGTCAAGG	0.383000													5	63					0.184627	0.18613	1	1	0
GJA4	2701	broad.mit.edu	37	1	35260505	35260505	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:35260505C>A	ENST00000342280.4	+	2	779	c.691C>A	c.(691-693)Ctg>Atg	p.L231M		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	231					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GTTGGTGCACCTGCTGTGTCG	0.602000													22	30					3.8784e-16	5.65585e-16	1	1	0
IQCB1	9657	broad.mit.edu	37	3	121544910	121544910	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:121544910G>T	ENST00000310864.6	-	5	595	c.381C>A	c.(379-381)atC>atA	p.I127I	IQCB1_ENST00000349820.6_Silent_p.I127I	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	127					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TAGCTGCATTGATAAAACATG	0.328000													6	22					0.00116845	0.00125275	1	1	0
USP34	9736	broad.mit.edu	37	2	61542063	61542063	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:61542063G>A	ENST00000398571.2	-	24	3405	c.3329C>T	c.(3328-3330)tCt>tTt	p.S1110F		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1110					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GACATCACCAGATTGTGCTCT	0.348000													42	65					0	0	1	0	0
MME	4311	broad.mit.edu	37	3	154889952	154889952	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:154889952C>A	ENST00000460393.1	+	21	2147	c.2027C>A	c.(2026-2028)cCt>cAt	p.P676H	MME_ENST00000360490.2_Missense_Mutation_p.P676H|MME_ENST00000462745.1_Missense_Mutation_p.P676H|MME_ENST00000492661.1_Missense_Mutation_p.P676H|MME_ENST00000493237.1_Missense_Mutation_p.P676H|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	676					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	AAATTACTTCCTGGACTTGAC	0.279000													40	54					2.45108e-15	3.51235e-15	1	1	0
LSG1	55341	broad.mit.edu	37	3	194386359	194386359	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:194386359G>A	ENST00000265245.5	-	5	762	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_018385.2	NP_060855.2	Q9H089	LSG1_HUMAN	large 60S subunit nuclear export GTPase 1	150					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		ATCAGCTTCTGTTCCTCTTCT	0.323000													6	38					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17436879	17436879	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:17436879G>C	ENST00000302539.4	-	18	2391	c.2266C>G	c.(2266-2268)Cgg>Ggg	p.R756G	ABCC8_ENST00000389817.3_Missense_Mutation_p.R755G	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	755	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTGTCTCCCGCTCTGGGCTG	0.597000													4	3					0	0	1	0	0
OR4D6	219983	broad.mit.edu	37	11	59224554	59224554	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:59224554G>T	ENST00000300127.2	+	1	144	c.121G>T	c.(121-123)Gga>Tga	p.G41*		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						AACAGTCCTGGGAAATGCACT	0.448000													33	52					4.15321e-07	5.00947e-07	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11505065	11505065	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:11505065C>A	ENST00000379237.1	-	15	2256	c.1862G>T	c.(1861-1863)gGg>gTg	p.G621V	USP6NL_ENST00000277575.5_Missense_Mutation_p.G638V	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	621						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TCGGGCTTCCCCATCTAGCTG	0.512000													21	28					2.37509e-13	3.30158e-13	1	1	0
KCNG4	93107	broad.mit.edu	37	16	84270968	84270968	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:84270968G>A	ENST00000568181.1	-	2	244	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	KCNG4_ENST00000308251.4_Missense_Mutation_p.R42W			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	42						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CGCACCCTCCGGTAGTAAAGG	0.632000													41	10					0	0	1	0	0
TTYH3	80727	broad.mit.edu	37	7	2698074	2698074	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:2698074G>T	ENST00000258796.7	+	12	1610	c.1405G>T	c.(1405-1407)Gcc>Tcc	p.A469S	TTYH3_ENST00000403167.1_Missense_Mutation_p.A298S|TTYH3_ENST00000407643.1_Missense_Mutation_p.A437S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	469						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGTCAGCAACGCCCCGGTCAC	0.667000													12	34					9.31168e-06	1.06851e-05	1	1	0
RNASE9	390443	broad.mit.edu	37	14	21025165	21025165	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:21025165G>C	ENST00000557068.1	-	4	1789	c.64C>G	c.(64-66)Cag>Gag	p.Q22E	RNASE9_ENST00000556208.1_Missense_Mutation_p.Q27E|RNASE9_ENST00000555230.1_Missense_Mutation_p.Q22E|RNASE9_ENST00000557209.1_Missense_Mutation_p.Q27E|RNASE9_ENST00000553706.1_Missense_Mutation_p.Q27E|RNASE9_ENST00000553541.1_Missense_Mutation_p.Q22E|RNASE9_ENST00000338904.3_Missense_Mutation_p.Q22E|RNASE9_ENST00000429244.2_Missense_Mutation_p.Q22E|RNASE9_ENST00000404716.3_Missense_Mutation_p.Q27E|RNASE9_ENST00000554964.1_Missense_Mutation_p.Q22E			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	22						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		TGCACCAGCTGCAGCAGCTGC	0.418000													39	22					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20807011	20807011	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:20807011C>A	ENST00000359062.3	+	15	3096	c.3056C>A	c.(3055-3057)gCa>gAa	p.A1019E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1019	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TATGATTCAGCAGGACTAATG	0.502000													36	12					1.36161e-19	2.1011e-19	1	1	0
PODN	127435	broad.mit.edu	37	1	53535629	53535629	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:53535629C>A	ENST00000371500.3	+	4	530	c.189C>A	c.(187-189)ggC>ggA	p.G63G	PODN_ENST00000312553.5_Silent_p.G82G|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.G82G	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	34	LRRNT.				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCCGAAGTGGCGGCCACAGCC	0.692000													5	3					0.00116845	0.00125275	1	1	0
ZNF521	25925	broad.mit.edu	37	18	22806812	22806812	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:22806812G>A	ENST00000361524.3	-	4	1218	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	ZNF521_ENST00000538137.2_Missense_Mutation_p.T357M|ZNF521_ENST00000584787.1_Missense_Mutation_p.T137M	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	357					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					ATCTGGAGTCGTACTGGACAC	0.572000			T	PAX5	ALL								86	28					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107012560	107012560	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:107012560C>G	ENST00000369701.3	+	23	3360	c.3133C>G	c.(3133-3135)Ctc>Gtc	p.L1045V		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1045						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGACCAGATCCTCATTGCCGT	0.527000													45	23					0	0	1	0	0
HP	3240	broad.mit.edu	37	16	72094555	72094555	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:72094555G>A	ENST00000355906.5	+	7	1045	c.987G>A	c.(985-987)ggG>ggA	p.G329G	HPR_ENST00000356967.5_Intron|HP_ENST00000562526.1_Intron|HP_ENST00000398131.2_Silent_p.G270G|HP_ENST00000570083.1_Silent_p.G270G|HP_ENST00000565574.1_Silent_p.G270G	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	329	Peptidase S1.				cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GCCCTGTAGGGGTGCAGCCCA	0.527000													70	10					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228335979	228335979	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:228335979G>T	ENST00000366723.1	+	7	584	c.583G>T	c.(583-585)Gcc>Tcc	p.A195S	GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366726.1_Intron|GUK1_ENST00000366721.1_Intron|GUK1_ENST00000366730.1_Intron|GUK1_ENST00000366718.1_Intron|GUK1_ENST00000312726.4_Intron|GUK1_ENST00000391865.3_Intron|GUK1_ENST00000366716.1_Intron|GUK1_ENST00000470040.1_Intron|GUK1_ENST00000366722.1_Intron			Q16774	KGUA_HUMAN	guanylate kinase 1	0					nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				AGTGAGGACAGCCGCAGGCCA	0.706000													3	8					0.115264	0.117317	1	1	0
PCDH10	57575	broad.mit.edu	37	4	134072611	134072611	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:134072611G>T	ENST00000264360.4	+	1	2142	c.1316G>T	c.(1315-1317)gGc>gTc	p.G439V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	439	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CGGGACCGGGGCGAGCCTGCG	0.587000													61	92					2.31391e-43	4.25027e-43	1	1	0
MUC5B	727897	broad.mit.edu	37	11	1265811	1265811	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:1265811C>A	ENST00000447027.1	+	31	7768	c.7710C>A	c.(7708-7710)ccC>ccA	p.P2570P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2567P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2567	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGCCACACCCTCCTCCACTC	0.657000													31	69					1.47857e-17	2.20156e-17	1	1	0
PLAGL2	5326	broad.mit.edu	37	20	30785260	30785260	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:30785260C>A	ENST00000246229.4	-	3	750	c.486G>T	c.(484-486)ctG>ctT	p.L162L		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CAAAGGTCTGCAGGCACACCT	0.612000													7	28					0.00198382	0.0021102	1	1	0
DNPH1	10591	broad.mit.edu	37	6	43197174	43197174	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:43197174C>A	ENST00000393987.2	-	1	42	c.21G>T	c.(19-21)ccG>ccT	p.P7P	DNPH1_ENST00000230431.6_Silent_p.P7P	NM_199184.1	NP_954653.1			2'-deoxynucleoside 5'-phosphate N-hydrolase 1																		CGCTGCGCCCCGGCACCATGG	0.776000													4	2					0.150653	0.152397	1	1	0
DHCR7	1717	broad.mit.edu	37	11	71146436	71146436	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:71146436C>A	ENST00000355527.3	-	9	1689	c.1413G>T	c.(1411-1413)ctG>ctT	p.L471L	DHCR7_ENST00000407721.2_Silent_p.L471L	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	471					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	AGATTCCAGGCAGCAGGCGGT	0.667000									Smith-Lemli-Opitz syndrome				13	69					7.93312e-07	9.41583e-07	1	1	0
KCNA10	3744	broad.mit.edu	37	1	111061111	111061111	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:111061111T>A	ENST00000369771.2	-	1	686	c.299A>T	c.(298-300)cAg>cTg	p.Q100L		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	100						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGTTCTGAGCTGGGTCTCAAA	0.517000													14	31					0	0	1	0	0
ETV3	2117	broad.mit.edu	37	1	157106102	157106102	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:157106102C>G	ENST00000368192.4	-	2	107	c.43G>C	c.(43-45)Gga>Cga	p.G15R	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.G15R	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	15							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGCTCACCTCCACCTCCTTCT	0.468000													116	137					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488259	121488259	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:121488259G>A	ENST00000296600.4	+	2	957	c.574G>A	c.(574-576)Gag>Aag	p.E192K	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	192						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GCCAAAGGGTGAGGGTCCCAG	0.527000													33	51					0	0	1	0	0
C6orf58	352999	broad.mit.edu	37	6	127911457	127911457	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:127911457G>T	ENST00000329722.7	+	5	912	c.900G>T	c.(898-900)gtG>gtT	p.V300V		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	300						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTGACAATGTGGATAAATCTA	0.308000													45	64					4.44401e-20	6.90052e-20	1	1	0
CNR1	1268	broad.mit.edu	37	6	88853845	88853845	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:88853845A>G	ENST00000537554.1	-	2	4711	c.1149T>C	c.(1147-1149)agT>agC	p.S383S	CNR1_ENST00000369501.2_Silent_p.S383S|CNR1_ENST00000535130.1_Silent_p.S383S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000428600.2_Silent_p.S383S|CNR1_ENST00000468898.1_Silent_p.S350S|CNR1_ENST00000369499.2_Silent_p.S383S|CNR1_ENST00000549890.1_Silent_p.S383S|CNR1_ENST00000549716.1_Silent_p.S322S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	383					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGCAGAGCATACTGCAGAATG	0.502000													24	57					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24342862	24342862	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:24342862C>A	ENST00000175238.6	+	10	1031	c.948C>A	c.(946-948)acC>acA	p.T316T	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.T88T|ADAM7_ENST00000380789.1_Silent_p.T316T|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	316	Peptidase M12B.				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)		ATTATTCCACCAGTATCATTA	0.373000													30	37					2.65835e-16	3.89961e-16	1	1	0
KCND1	3750	broad.mit.edu	37	X	48825920	48825920	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:48825920G>T	ENST00000218176.3	-	1	2056	c.759C>A	c.(757-759)gcC>gcA	p.A253A		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	253						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						AACGGCTGGGGGCGGCAAACA	0.582000													14	4					2.61681e-11	3.4844e-11	1	1	0
IL18R1	8809	broad.mit.edu	37	2	103010974	103010974	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:103010974G>T	ENST00000409599.1	+	11	1513	c.1157G>T	c.(1156-1158)cGa>cTa	p.R386L	IL18R1_ENST00000233957.1_Missense_Mutation_p.R386L			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	386	TIR.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGAATGCCGACCTGAAAAT	0.358000													19	51					2.94398e-08	3.65172e-08	1	1	0
CPAMD8	27151	broad.mit.edu	37	19	17104275	17104275	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:17104275C>A	ENST00000443236.1	-	12	1389	c.1358G>T	c.(1357-1359)gGg>gTg	p.G453V	CPAMD8_ENST00000388925.4_Missense_Mutation_p.G406V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	406						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GATTTCAAACCCCACTAGTCC	0.577000													22	4					8.04996e-18	1.20587e-17	1	1	0
SYT15	83849	broad.mit.edu	37	10	46967678	46967678	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:46967678C>T	ENST00000374323.3	-	3	1145	c.558G>A	c.(556-558)aaG>aaA	p.K186K	SYT15_ENST00000374325.3_Silent_p.K133K|SYT15_ENST00000503753.1_Silent_p.K133K|SYT15_ENST00000374321.4_Silent_p.K133K			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	133	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTCCGGGAACTTGTACAGCT	0.622000													11	148					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149522430	149522430	+	RNA	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:149522430G>C	ENST00000378016.2	+	0	14060							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCACACAGCTGTGCCGACCTC	0.622000													32	64					0	0	1	0	0
ATHL1	80162	broad.mit.edu	37	11	293727	293727	+	Splice_Site	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:293727G>C	ENST00000409548.2	+	10	1729	c.1614_splice	c.e10+1	p.W538_splice	ATHL1_ENST00000409655.1_Splice_Site_p.W290_splice|ATHL1_ENST00000409479.1_Splice_Site_p.W565_splice	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	538					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCATGACCTGGGTGAGCACCC	0.612000													16	66					0	0	1	0	0
HDAC1	3065	broad.mit.edu	37	1	32782332	32782332	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:32782332C>T	ENST00000373548.3	+	3	313	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C	HDAC1_ENST00000373541.2_5'UTR	NM_004964.2	NP_004955.2	Q13547	HDAC1_HUMAN	histone deacetylase 1	77	Histone deacetylase.				anti-apoptosis|blood coagulation|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|histone H3 deacetylation|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of androgen receptor signaling pathway|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytosol|NuRD complex|Sin3 complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|identical protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|RNA polymerase II transcription corepressor activity|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18		Breast(348;0.000523)|Lung NSC(340;0.000992)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Lung SC(1967;0.113)		KIRC - Kidney renal clear cell carcinoma(1967;0.138)	Vorinostat(DB02546)	TAAATTCTTGCGCTCCATCCG	0.498000													62	62					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146125936	146125936	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:146125936A>G	ENST00000237281.4	-	2	1772	c.1606T>C	c.(1606-1608)Ttt>Ctt	p.F536L		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	536							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ACATTCTTAAAGTGGGAAGAA	0.418000													31	67					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872493	51872493	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:51872493C>T	ENST00000371497.5	+	2	3383	c.2496C>T	c.(2494-2496)tcC>tcT	p.S832S	TSHZ2_ENST00000603338.2_Silent_p.S829S|TSHZ2_ENST00000329613.6_Silent_p.S829S	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	832					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGGATGTCTCCAGTGAAGTCT	0.537000													36	32					0	0	1	0	0
IFNA14	3448	broad.mit.edu	37	9	21239720	21239720	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:21239720T>A	ENST00000380222.2	-	1	258	c.215A>T	c.(214-216)cAg>cTg	p.Q72L		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	72					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTGAGCTTTCTGGAACTGGTT	0.478000													75	55					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29933477	29933477	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:29933477G>T	ENST00000431530.3	+	6	3072	c.3014G>T	c.(3013-3015)cGg>cTg	p.R1005L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	995	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGCTGAGCGGCAGCTGGTG	0.627000													14	3					9.31168e-06	1.06851e-05	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11567387	11567387	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:11567387T>A	ENST00000379237.1	-	4	547	c.153A>T	c.(151-153)ttA>ttT	p.L51F	USP6NL_ENST00000277575.5_Missense_Mutation_p.L68F	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	51						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TGACTTACTGTAAAAAGCCAA	0.323000													32	51					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1321356	1321356	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:1321356T>A	ENST00000381567.3	-	4	398	c.399A>T	c.(397-399)gcA>gcT	p.A133A	CRLF2_ENST00000381566.1_Silent_p.A133A|CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	133	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				TCACCGTCACTGCATCCTGAT	0.572000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								23	18					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166223866	166223866	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:166223866G>T	ENST00000357398.3	+	19	3950	c.3660G>T	c.(3658-3660)ctG>ctT	p.L1220L	SCN2A_ENST00000283256.6_Silent_p.L1220L|SCN2A_ENST00000375427.2_Silent_p.L1220L|SCN2A_ENST00000375437.2_Silent_p.L1220L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1220					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGATTCTGCTGAGCAGTGGGG	0.418000													39	41					1.57019e-19	2.41794e-19	1	1	0
TTI1	9675	broad.mit.edu	37	20	36640474	36640474	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:36640474C>A	ENST00000373448.2	-	3	1983	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V	TTI1_ENST00000449821.1_Missense_Mutation_p.G582V|TTI1_ENST00000487362.1_5'UTR|TTI1_ENST00000373447.3_Missense_Mutation_p.G582V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	582							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CAGCTCCTCTCCCATTTCCTC	0.453000													87	73					7.7321e-48	1.43803e-47	1	1	0
LTB	4050	broad.mit.edu	37	6	31548608	31548608	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:31548608C>A	ENST00000429299.2	-	4	620	c.613G>T	c.(613-615)Gtg>Ttg	p.V205L	LTB_ENST00000446745.2_3'UTR|LTB_ENST00000483972.1_5'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	205					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCGAACCCCACGCTCGTGTAC	0.662000													35	4					3.03874e-20	4.73827e-20	1	1	0
BNIP1	662	broad.mit.edu	37	5	172581411	172581411	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:172581411G>T	ENST00000231668.9	+	4	497	c.393G>T	c.(391-393)atG>atT	p.M131I	BNIP1_ENST00000351486.5_Missense_Mutation_p.M88I|BNIP1_ENST00000352523.6_Missense_Mutation_p.M131I|BNIP1_ENST00000393770.4_Missense_Mutation_p.M88I	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	88					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AAAAGCAGATGCTCAGGTAGG	0.502000													11	4					0.000978159	0.00105559	1	1	0
KLK6	5653	broad.mit.edu	37	19	51470521	51470521	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:51470521G>T	ENST00000376851.3	-	3	540	c.101C>A	c.(100-102)cCc>cAc	p.P34H	KLK6_ENST00000391808.1_5'UTR|KLK6_ENST00000376853.4_Missense_Mutation_p.P34H|KLK6_ENST00000310157.2_Missense_Mutation_p.P34H|KLK6_ENST00000594641.1_Missense_Mutation_p.P34H|KLK6_ENST00000424910.2_Intron	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	34	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGCTTGGTAGGGGTGAGATGT	0.572000													53	15					8.72198e-27	1.47283e-26	1	1	0
IGFBP5	3488	broad.mit.edu	37	2	217543651	217543651	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:217543651G>T	ENST00000233813.4	-	2	1238	c.489C>A	c.(487-489)tcC>tcA	p.S163S		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	163					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGACAAACTTGGACTGGGTCA	0.582000													6	22					2.0095e-06	2.34573e-06	1	1	0
CLINT1	9685	broad.mit.edu	37	5	157216423	157216423	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:157216423C>A	ENST00000523094.1	-	11	1684	c.1479G>T	c.(1477-1479)atG>atT	p.M493I	CLINT1_ENST00000530742.1_Missense_Mutation_p.M493I|CLINT1_ENST00000523908.1_Missense_Mutation_p.M511I|CLINT1_ENST00000296951.5_Missense_Mutation_p.M493I|CLINT1_ENST00000411809.2_Missense_Mutation_p.M493I	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	493					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGAAGGCTGCATACCAGGTA	0.443000													91	24					2.01383e-38	3.64057e-38	1	1	0
ALOX12	239	broad.mit.edu	37	17	6902062	6902062	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:6902062C>A	ENST00000251535.6	+	4	501	c.448C>A	c.(448-450)Ctg>Atg	p.L150M	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	150	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						AGGGTTACCCCTGACCATCGC	0.557000													13	3					0.0135373	0.0140674	1	1	0
AMMECR1L	83607	broad.mit.edu	37	2	128628475	128628475	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:128628475G>A	ENST00000272647.5	-	5	806	c.546C>T	c.(544-546)ccC>ccT	p.P182P	AMMECR1L_ENST00000393001.1_Silent_p.P182P	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	182	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTCGGGTCAGGGGGGGAAATC	0.542000													12	7					0	0	1	0	0
FAM73A	374986	broad.mit.edu	37	1	78325063	78325063	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:78325063G>C	ENST00000370791.3	+	10	1212	c.1180G>C	c.(1180-1182)Gct>Cct	p.A394P	FAM73A_ENST00000443751.2_Missense_Mutation_p.A356P	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	394						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TATTCGACAGGCTTTTCAGGT	0.423000													8	57					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275448	238275448	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:238275448G>C	ENST00000295550.4	-	11	5834	c.5382C>G	c.(5380-5382)gcC>gcG	p.A1794A	COL6A3_ENST00000472056.1_Silent_p.A1187A|COL6A3_ENST00000347401.3_Silent_p.A1593A|COL6A3_ENST00000353578.4_Silent_p.A1588A|COL6A3_ENST00000346358.4_Silent_p.A1594A|COL6A3_ENST00000409809.1_Silent_p.A1588A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1794	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAACGCTGTGGCGCTGTTGG	0.557000													23	63					0	0	1	0	0
BDP1	55814	broad.mit.edu	37	5	70751763	70751763	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:70751763G>T	ENST00000358731.4	+	1	322	c.59G>T	c.(58-60)aGg>aTg	p.R20M	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	20	Interaction with ZBTB43.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GTAGGCGCCAGGGGCTCCACA	0.697000													10	16					4.68919e-08	5.78268e-08	1	1	0
PLEC	5339	broad.mit.edu	37	8	144993577	144993577	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:144993577G>C	ENST00000322810.4	-	32	10992	c.10823C>G	c.(10822-10824)aCg>aGg	p.T3608R	PLEC_ENST00000357649.2_Missense_Mutation_p.T3475R|PLEC_ENST00000356346.3_Missense_Mutation_p.T3457R|PLEC_ENST00000345136.3_Missense_Mutation_p.T3471R|PLEC_ENST00000354589.3_Missense_Mutation_p.T3471R|PLEC_ENST00000436759.2_Missense_Mutation_p.T3498R|PLEC_ENST00000398774.2_Missense_Mutation_p.T3439R|PLEC_ENST00000527096.1_Missense_Mutation_p.T3494R|PLEC_ENST00000354958.2_Missense_Mutation_p.T3449R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3608	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GATGCCGCCCGTGGCGATCTG	0.677000													57	46					0	0	1	0	0
OR1L1	26737	broad.mit.edu	37	9	125424135	125424135	+	Silent	SNP	G	G	A	rs145519727	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:125424135G>A	ENST00000373686.1	+	1	291	c.291G>A	c.(289-291)ctG>ctA	p.L97L				Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TTATCATCCTGGCCATCCGCT	0.483000													6	91					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32893954	32893954	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:32893954C>A	ENST00000330048.5	-	0	1303					NR_003083.2																						GATCTCCACACAGTCGGGAGT	0.587000													17	93					3.32936e-07	4.01903e-07	1	1	0
ITGB8	3696	broad.mit.edu	37	7	20438509	20438509	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:20438509G>T	ENST00000222573.3	+	9	1857	c.1173G>T	c.(1171-1173)caG>caT	p.Q391H	ITGB8_ENST00000537992.1_Missense_Mutation_p.Q256H	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	391					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TGAAAGTTCAGGTGGAAAACC	0.418000													73	50					1.48481e-22	2.39309e-22	1	1	0
PNN	5411	broad.mit.edu	37	14	39650316	39650316	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:39650316C>T	ENST00000216832.4	+	9	1470	c.1403C>T	c.(1402-1404)cCc>cTc	p.P468L	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	468	Glu-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAATCTGAGCCCCAACCTGAG	0.498000													88	46					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179590171	179590171	+	Splice_Site	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:179590171T>C	ENST00000444136.1	+	6	1167	c.915_splice	c.e6-1	p.V306_splice	TDRD5_ENST00000367614.1_Splice_Site_p.V306_splice|TDRD5_ENST00000294848.8_Splice_Site_p.V306_splice	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	306	Lotus/OST-HTH 3.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATTTGTTAGGTTGTATCTAAG	0.313000													33	59					0	0	1	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98165888	98165888	+	RNA	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:98165888T>A	ENST00000443455.1	-	0	1581							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		TTACCTGTCCTAGATTTTTCT	0.358000													3	3					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49005780	49005780	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:49005780C>T	ENST00000226432.4	+	7	1014	c.831C>T	c.(829-831)taC>taT	p.Y277Y	CWH43_ENST00000513409.1_Silent_p.Y250Y	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	277					GPI anchor biosynthetic process	integral to membrane		p.Y277*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGCTCCTTTACCTGCACACAT	0.488000													16	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9069689	9069689	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:9069689G>T	ENST00000397910.4	-	3	17960	c.17757C>A	c.(17755-17757)ccC>ccA	p.P5919P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5921	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						CTTCCACAGAGGGAGGGCTTT	0.498000													56	24					1.63038e-21	2.59394e-21	1	1	0
MYBPHL	343263	broad.mit.edu	37	1	109849517	109849517	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:109849517C>G	ENST00000357155.1	-	1	146	c.97G>C	c.(97-99)Gga>Cga	p.G33R	MYBPHL_ENST00000477962.1_5'UTR	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	33										central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GCCCCCTGTCCAGGTGAAGCC	0.672000													8	19					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11676040	11676040	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:11676040C>A	ENST00000423059.3	-	2	990	c.739G>T	c.(739-741)Gag>Tag	p.E247*		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	247	TSP type-1 2.					integral to membrane		p.E247K(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCCTCGGCCTCGCATGGACTG	0.632000										HNSCC(18;0.044)			67	37					5.08636e-23	8.25146e-23	1	1	0
SSFA2	6744	broad.mit.edu	37	2	182787005	182787005	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:182787005G>C	ENST00000431877.2	+	16	3720	c.3541G>C	c.(3541-3543)Gct>Cct	p.A1181P	SSFA2_ENST00000428267.2_Missense_Mutation_p.A1006P|SSFA2_ENST00000409001.1_Missense_Mutation_p.A1159P|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000409136.1_Missense_Mutation_p.A690P|SSFA2_ENST00000320370.7_Missense_Mutation_p.A1181P	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	1181						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			AGTTGATGCAGCTGAAGGAGC	0.488000													22	76					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39472801	39472801	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:39472801C>G	ENST00000518318.2	+	7	1194	c.1152C>G	c.(1150-1152)atC>atG	p.I384M	POU6F2_ENST00000403058.1_Missense_Mutation_p.I384M|POU6F2_ENST00000559001.1_Missense_Mutation_p.I329M			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	384	Gln-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCCAGATCATCGCCACAGTCA	0.602000													27	41					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29627268	29627268	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:29627268T>C	ENST00000376894.4	+	2	379	c.261T>C	c.(259-261)gaT>gaC	p.D87D	MOG_ENST00000490427.1_Intron|MOG_ENST00000469603.1_3'UTR|MOG_ENST00000431798.2_Silent_p.D87D|MOG_ENST00000483013.1_Intron|MOG_ENST00000396701.2_Silent_p.D87D|MOG_ENST00000396704.3_Silent_p.D87D|MOG_ENST00000494692.1_Silent_p.D87D|MOG_ENST00000376888.2_Intron|MOG_ENST00000376891.4_Silent_p.D87D|MOG_ENST00000376898.3_Silent_p.D87D|MOG_ENST00000376902.3_Silent_p.D87D|MOG_ENST00000533330.2_Silent_p.D87D|MOG_ENST00000376917.3_Silent_p.D87D|MOG_ENST00000416766.2_Silent_p.D87D			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	87	Ig-like V-type.				cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane		p.D87D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AGGACCAAGATGGAGACCAGG	0.547000													137	26					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768134	140768134	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140768134T>C	ENST00000519479.1	+	1	683	c.683T>C	c.(682-684)aTa>aCa	p.I228T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCACAGATACACGTTCTA	0.488000													104	31					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84520162	84520162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:84520162G>T	ENST00000360700.4	+	6	1703	c.817G>T	c.(817-819)Gga>Tga	p.G273*	ZNF711_ENST00000395402.1_Nonsense_Mutation_p.G251*|ZNF711_ENST00000373165.3_Nonsense_Mutation_p.G273*|ZNF711_ENST00000542798.1_Nonsense_Mutation_p.G69*|ZNF711_ENST00000276123.3_Nonsense_Mutation_p.G273*			Q9Y462	ZN711_HUMAN	zinc finger protein 711	273					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTACACCAGTGGACATTCAGT	0.388000													22	43					2.89027e-11	3.83819e-11	1	1	0
SAE1	10055	broad.mit.edu	37	19	47656282	47656282	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:47656282A>G	ENST00000413379.3	+	4	614	c.512A>G	c.(511-513)gAg>gGg	p.E171G	SAE1_ENST00000392776.3_Missense_Mutation_p.E171G|SAE1_ENST00000270225.7_Missense_Mutation_p.E171G|SAE1_ENST00000598840.1_Intron|SAE1_ENST00000540850.1_Intron	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	171					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AATCTAGGAGAGCATGAGTTT	0.333000													50	167					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50850583	50850583	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:50850583G>T	ENST00000404971.1	-	7	2441	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	NRXN1_ENST00000402717.3_Missense_Mutation_p.L335M|NRXN1_ENST00000401669.2_Missense_Mutation_p.L335M|NRXN1_ENST00000405472.3_Missense_Mutation_p.L335M|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Missense_Mutation_p.L335M|NRXN1_ENST00000406316.2_Missense_Mutation_p.L335M	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	335	Laminin G-like 2.				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)			CCATTTTTCAGGGCAAGATTG	0.433000													47	78					3.86236e-30	6.71283e-30	1	1	0
PDE2A	5138	broad.mit.edu	37	11	72290584	72290584	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:72290584G>A	ENST00000334456.5	-	26	2495	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S	PDE2A_ENST00000444035.2_Silent_p.S741S|PDE2A_ENST00000418754.2_Silent_p.S635S|PDE2A_ENST00000376450.3_Silent_p.S494S|PDE2A_ENST00000544570.1_Silent_p.S743S|PDE2A_ENST00000540345.1_Silent_p.S741S	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	750	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	tcaccTTCCGGGAGAAATGAT	0.622000													6	12					0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150529143	150529143	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:150529143T>A	ENST00000271643.4	+	10	1859	c.1623T>A	c.(1621-1623)gcT>gcA	p.A541A	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369038.2_Silent_p.A541A|ADAMTSL4_ENST00000369041.5_Silent_p.A541A|ADAMTSL4_ENST00000369039.5_Silent_p.A564A	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	541					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GGAACTGGGCTGTGGATCCCC	0.617000													72	131					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3242243	3242243	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:3242243C>T	ENST00000217939.6	-	5	1637	c.1483G>A	c.(1483-1485)Ggt>Agt	p.G495S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	495	Ig-like C2-type 1.					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)				TGGCATGGACCCCCTTCCAGG	0.527000													40	16					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65928032	65928032	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:65928032C>T	ENST00000321892.4	+	20	6595	c.6534C>T	c.(6532-6534)atC>atT	p.I2178I	BPTF_ENST00000306378.6_Silent_p.I2052I|BPTF_ENST00000335221.5_Silent_p.I2178I|BPTF_ENST00000424123.3_Silent_p.I2039I			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2178					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TATAGGTAATCACAGGGCCTC	0.358000													12	74					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002434	52002434	+	Silent	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:52002434T>G	ENST00000291707.3	-	4	1180	c.1125A>C	c.(1123-1125)ggA>ggC	p.G375G	SIGLEC12_ENST00000598614.1_Silent_p.G257G	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	375	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTGTGCCATCTCCTTGGAAGA	0.562000													42	11					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187629379	187629379	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:187629379T>A	ENST00000441802.2	-	2	1812	c.1603A>T	c.(1603-1605)Act>Tct	p.T535S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	535	Cadherin 4.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCCTCAGAGTATAAACCCGA	0.468000										HNSCC(5;0.00058)			34	63					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932911	148932911	+	RNA	SNP	G	G	A	rs2531445	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:148932911G>A	ENST00000539543.1	+	0	167					NR_027355.1																						CCAAGACTCCGTCCTGCAAGG	0.612000													11	169					0	0	1	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564195	140564195	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140564195T>C	ENST00000361016.2	+	1	3216	c.2061T>C	c.(2059-2061)acT>acC	p.T687T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		687					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.T687T(1)		breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGCTCACTGTCTACCTGG	0.692000													82	28					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18691801	18691801	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:18691801A>C	ENST00000251296.1	+	6	1008	c.625A>C	c.(625-627)Agc>Cgc	p.S209R		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	209						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTACAGGACAGCAGGCCCTT	0.602000													31	30					0	0	1	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785273	111785273	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:111785273C>T	ENST00000452346.2	+	13	1593	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	TMPRSS7_ENST00000419127.1_Silent_p.F404F			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	530	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCAGCTCCTTCAGGCAGCATG	0.507000													27	48					0	0	1	0	0
PAPL	390928	broad.mit.edu	37	19	39590885	39590885	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:39590885T>C	ENST00000331256.5	+	5	798	c.524T>C	c.(523-525)cTg>cCg	p.L175P	PAPL_ENST00000594229.1_Intron	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		175						extracellular region	acid phosphatase activity|metal ion binding										GCCTACAACCTGGATCAGGAC	0.582000													67	92					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88766516	88766516	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:88766516G>T	ENST00000497649.2	+	6	802	c.424G>T	c.(424-426)Gaa>Taa	p.E142*	MEPE_ENST00000540395.1_Nonsense_Mutation_p.E53*|MEPE_ENST00000424957.3_Nonsense_Mutation_p.E166*|MEPE_ENST00000395102.4_Nonsense_Mutation_p.E197*|MEPE_ENST00000560249.1_Nonsense_Mutation_p.E53*|MEPE_ENST00000361056.3_Nonsense_Mutation_p.E166*|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	166					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ACTCCTGGGGGAAGAAAACAA	0.403000													37	30					3.76114e-14	5.28765e-14	1	1	0
SIKE1	80143	broad.mit.edu	37	1	115319023	115319023	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:115319023C>A	ENST00000369528.5	-	4	555	c.478G>T	c.(478-480)Gtt>Ttt	p.V160F	SIKE1_ENST00000060969.5_Missense_Mutation_p.V156F|SIKE1_ENST00000506320.1_5'UTR	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	156						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCACCTGAACTGCTTTCCTC	0.363000													21	49					3.7963e-18	5.72722e-18	1	1	0
PLXNA2	5362	broad.mit.edu	37	1	208270130	208270130	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:208270130C>A	ENST00000367033.3	-	7	2587	c.1830G>T	c.(1828-1830)caG>caT	p.Q610H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	610					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCAGATGACCTGGCTCCCGG	0.557000													14	40					1.52009e-12	2.07425e-12	1	1	0
PC	5091	broad.mit.edu	37	11	66638805	66638805	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:66638805C>A	ENST00000393960.1	-	6	749	c.468G>T	c.(466-468)cgG>cgT	p.R156R	PC_ENST00000393958.2_Silent_p.R156R|PC_ENST00000393955.2_Silent_p.R156R|PC_ENST00000355677.3_Silent_p.R156R|PC_ENST00000524491.1_Silent_p.R116R	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	156	ATP-grasp.|Biotin carboxylation.		R -> Q (in PC deficiency).		gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGCGATGGCCCGGGCCTCCA	0.662000													36	61					9.17885e-22	1.46507e-21	1	1	0
TP53AIP1	63970	broad.mit.edu	37	11	128807680	128807680	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:128807680C>A	ENST00000602346.1	-	2	243	c.34G>T	c.(34-36)Gct>Tct	p.A12S	TP53AIP1_ENST00000531399.1_Missense_Mutation_p.A12S|TP53AIP1_ENST00000530777.1_Missense_Mutation_p.A12S|TP53AIP1_ENST00000458238.2_Missense_Mutation_p.A12S	NM_001251964.1	NP_001238893.1	Q9HCN2	TPIP1_HUMAN	tumor protein p53 regulated apoptosis inducing protein 1	12					apoptosis	mitochondrion				large_intestine(1)|lung(1)|skin(1)	3						GAAGCTTGAGCAGATCTGAAG	0.597000													6	51					0.0215528	0.022195	1	1	0
FCRL4	83417	broad.mit.edu	37	1	157556223	157556223	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:157556223G>T	ENST00000271532.1	-	6	1005	c.870C>A	c.(868-870)ctC>ctA	p.L290L	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	290	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GGGTCTCCAGGAGCACCCCAG	0.622000													37	38					3.76114e-14	5.28765e-14	1	1	0
MED12	9968	broad.mit.edu	37	X	70356320	70356320	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:70356320C>T	ENST00000333646.6	+	37	5414	c.5215C>T	c.(5215-5217)Ctg>Ttg	p.L1739L	MED12_ENST00000478889.1_Intron|MED12_ENST00000374080.3_Silent_p.L1739L|MED12_ENST00000374102.1_Silent_p.L1739L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1739	Interaction with CTNNB1 and GLI3.|Pro-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CGCCTATTACCTGGAGCCACT	0.632000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						14	3					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24593575	24593575	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:24593575G>A	ENST00000264463.4	-	2	532	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	9					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AATAGAAACAGTAGCAAAAAT	0.403000										HNSCC(23;0.051)			72	61					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283878	152283878	+	Nonsense_Mutation	SNP	G	G	A	rs76017272	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152283878G>A	ENST00000368799.1	-	3	3519	c.3484C>T	c.(3484-3486)Cag>Tag	p.Q1162*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1162	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGTCCTGACCCTCTTGG	0.607000									Ichthyosis				133	683					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885068	88885068	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:88885068C>A	ENST00000319675.3	-	1	1228	c.1132G>T	c.(1132-1134)Gca>Tca	p.A378S		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	378										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGCCCTGGTGCTCCTCGGAAG	0.567000													16	48					7.07596e-05	7.92977e-05	1	1	0
PIGQ	9091	broad.mit.edu	37	16	633311	633311	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:633311A>T	ENST00000026218.5	+	10	2048	c.1960A>T	c.(1960-1962)Agc>Tgc	p.S654C	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	654					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGGCGAGCACAGCAACCCCAG	0.682000													21	55					0	0	1	0	0
WASL	8976	broad.mit.edu	37	7	123336783	123336783	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:123336783G>A	ENST00000223023.4	-	6	811	c.479C>T	c.(478-480)gCt>gTt	p.A160V		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	160					actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCAACTGTAGCCATGGGTAG	0.289000													26	25					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99936171	99936171	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:99936171A>G	ENST00000264255.3	-	5	910	c.655T>C	c.(655-657)Tat>Cat	p.Y219H	C2orf15_ENST00000465095.1_Intron	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	219					cell redox homeostasis		protein binding			lung(1)	1						TCTGAATCATATTTCTTTCCT	0.284000													22	33					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94776256	94776256	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:94776256A>G	ENST00000341584.3	-	3	847	c.701T>C	c.(700-702)aTg>aCg	p.M234T		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	234					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CGACTGCAACATCATGGGCAC	0.542000													54	50					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47938466	47938466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:47938466G>T	ENST00000402813.3	-	10	2394	c.2252C>A	c.(2251-2253)gCg>gAg	p.A751E	CNGA1_ENST00000514170.1_Missense_Mutation_p.A682E|CNGA1_ENST00000544810.1_Missense_Mutation_p.A682E|CNGA1_ENST00000358519.4_Missense_Mutation_p.A682E|CNGA1_ENST00000420489.2_Missense_Mutation_p.A682E			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	682					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CCCACTTTCCGCTCCAGGTCC	0.423000													22	40					1.10923e-09	1.42465e-09	1	1	0
ZFHX4	79776	broad.mit.edu	37	8	77776198	77776198	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:77776198C>A	ENST00000521891.2	+	11	10696	c.10248C>A	c.(10246-10248)gaC>gaA	p.D3416E	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D3390E|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D3367E|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D3371E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3367						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CTGATGAAGACGCCGCAGTAA	0.418000										HNSCC(33;0.089)			9	14					0.00448238	0.00471729	1	1	0
SLAMF9	89886	broad.mit.edu	37	1	159921458	159921458	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:159921458G>A	ENST00000368093.3	-	4	979	c.863C>T	c.(862-864)cCt>cTt	p.P288L	SLAMF9_ENST00000368092.3_Missense_Mutation_p.P197L|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	288						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGTCAGGCAGGGCTGGAGCC	0.522000													34	52					0	0	1	0	0
AGXT2	64902	broad.mit.edu	37	5	35039561	35039561	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:35039561A>G	ENST00000231420.6	-	3	430	c.230T>C	c.(229-231)gTg>gCg	p.V77A		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	77					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TGCCGTCACCACAGGAGAAAG	0.473000													29	66					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77775632	77775632	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:77775632G>T	ENST00000521891.2	+	11	10130	c.9682G>T	c.(9682-9684)Gtg>Ttg	p.V3228L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V3202L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V3179L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V3183L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			TGCTCTTTCAGTGTTGGGCAA	0.428000										HNSCC(33;0.089)			57	79					6.60958e-23	1.06875e-22	1	1	0
MACF1	23499	broad.mit.edu	37	1	39788298	39788298	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:39788298A>G	ENST00000564288.1	+	32	4825	c.4048A>G	c.(4048-4050)Atg>Gtg	p.M1350V	MACF1_ENST00000317713.7_Missense_Mutation_p.M1355V|MACF1_ENST00000372915.3_Missense_Mutation_p.M1355V|MACF1_ENST00000539005.1_Missense_Mutation_p.M1355V|MACF1_ENST00000361689.2_Missense_Mutation_p.M1355V|MACF1_ENST00000567887.1_Missense_Mutation_p.M1387V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.M1355V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1355					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATTGCAACTGATGACATACAA	0.428000													9	122					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577765	9577765	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:9577765G>T	ENST00000301480.4	-	10	2071	c.1858C>A	c.(1858-1860)Cga>Aga	p.R620R		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTGTGTCTTCGTAAATGTTTA	0.398000													130	25					3.78353e-64	7.18968e-64	1	1	0
LRIG3	121227	broad.mit.edu	37	12	59270256	59270256	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:59270256C>A	ENST00000320743.3	-	16	2952	c.2666G>T	c.(2665-2667)gGa>gTa	p.G889V	LRIG3_ENST00000379141.4_Missense_Mutation_p.G829V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	889						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TAAGAAAAATCCAGCACCTGA	0.418000			T	ROS1	NSCLC								11	30					1.58986e-06	1.8632e-06	1	1	0
LMBR1	64327	broad.mit.edu	37	7	156554848	156554848	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:156554848G>A	ENST00000353442.4	-	8	900	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	LMBR1_ENST00000540390.1_Nonsense_Mutation_p.Q201*|LMBR1_ENST00000354505.4_Nonsense_Mutation_p.Q222*|LMBR1_ENST00000359422.4_Nonsense_Mutation_p.Q70*	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1	222						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		ACTAGCAACTGACCCATCACT	0.348000													25	43					0	0	1	0	0
NTNG1	22854	broad.mit.edu	37	1	108023427	108023427	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:108023427A>T	ENST00000370067.1	+	7	1975	c.1348A>T	c.(1348-1350)Acg>Tcg	p.T450S	NTNG1_ENST00000370073.2_Missense_Mutation_p.T529S|NTNG1_ENST00000370074.4_Missense_Mutation_p.T428S|NTNG1_ENST00000370072.3_Missense_Mutation_p.T484S|NTNG1_ENST00000370065.1_Missense_Mutation_p.T484S|NTNG1_ENST00000370070.2_Missense_Mutation_p.T450S|NTNG1_ENST00000370066.1_Missense_Mutation_p.T470S|NTNG1_ENST00000370068.1_Missense_Mutation_p.T529S|NTNG1_ENST00000370061.3_Missense_Mutation_p.T495S|NTNG1_ENST00000542803.1_Missense_Mutation_p.T529S|NTNG1_ENST00000370071.2_Missense_Mutation_p.T470S			Q9Y2I2	NTNG1_HUMAN	netrin G1	529	Laminin EGF-like 3.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GCTGCTGACCACGCTGCTGGG	0.692000													2	2					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	37014784	37014784	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:37014784G>T	ENST00000282516.8	+	22	5059		c.e22-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCATTCTAGATTGACCAGG	0.308000													32	64					4.3181e-19	6.60834e-19	1	1	0
MIR31HG	554202	broad.mit.edu	37	9	21455785	21455785	+	RNA	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:21455785T>A	ENST00000304425.3	-	0	600					NR_027054.1																						GCATGGAACATGACCTTCCTG	0.532000													7	3					0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43788391	43788391	+	Nonstop_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:43788391T>A	ENST00000372476.3	+	23	3494	c.3415T>A	c.(3415-3417)Tga>Aga	p.*1139R	TIE1_ENST00000433781.2_Nonstop_Mutation_p.*784R	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	0					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGAGGAGGCCTGAGCTGCCAT	0.572000													12	21					0	0	1	0	0
EFR3A	23167	broad.mit.edu	37	8	132997196	132997196	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:132997196G>A	ENST00000254624.5	+	16	1983	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	EFR3A_ENST00000334503.4_Silent_p.E586E|EFR3A_ENST00000519656.1_Silent_p.E550E	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	586						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTATCAATGAGGATAATTTGC	0.398000													68	39					0	0	1	0	0
MSH6	2956	broad.mit.edu	37	2	48026796	48026796	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:48026796G>T	ENST00000234420.4	+	4	1826	c.1674G>T	c.(1672-1674)gtG>gtT	p.V558V	MSH6_ENST00000538136.1_Silent_p.V256V|MSH6_ENST00000540021.1_Silent_p.V428V|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	558					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATATGGTGTGTGCTTTGTTG	0.438000			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				85	81					3.1371e-51	5.8712e-51	1	1	0
DNAJC1	64215	broad.mit.edu	37	10	22208761	22208761	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:22208761C>A	ENST00000376980.3	-	5	925	c.635_splice	c.e5+1	p.R212_splice		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	212					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				ATGCTCTCACCTTTCATTTTT	0.299000													50	63					1.19451e-25	1.99668e-25	1	1	0
SLC22A25	387601	broad.mit.edu	37	11	62996884	62996884	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:62996884A>T	ENST00000306494.6	-	1	240	c.241T>A	c.(241-243)Tca>Aca	p.S81T	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	81					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCAGATTTGAGTCGAATGGG	0.527000													32	45					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152553948	152553948	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:152553948T>C	ENST00000397345.3	-	15	1483	c.1281A>G	c.(1279-1281)ttA>ttG	p.L427L	NEB_ENST00000409198.1_Silent_p.L427L|NEB_ENST00000172853.10_Silent_p.L427L|NEB_ENST00000427231.2_Silent_p.L427L|NEB_ENST00000604864.1_Silent_p.L427L|NEB_ENST00000603639.1_Silent_p.L427L	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	427					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATATCTTTTAAGTAGGAAT	0.333000													38	18					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42748971	42748971	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:42748971T>C	ENST00000330714.3	+	2	322	c.138T>C	c.(136-138)ccT>ccC	p.P46P	MX2_ENST00000543692.1_Silent_p.P46P	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	46					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TGATGTTTCCTCCAAACTGGC	0.483000													180	14					0	0	1	0	0
FAM26E	254228	broad.mit.edu	37	6	116832866	116832866	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:116832866G>C	ENST00000368599.3	+	1	58	c.7G>C	c.(7-9)Gct>Cct	p.A3P	TRAPPC3L_ENST00000356128.4_Intron|TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	3						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		CAACATGGATGCTTTTCAGGG	0.468000													11	55					0	0	1	0	0
MAP4K4	9448	broad.mit.edu	37	2	102486090	102486090	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:102486090A>T	ENST00000413150.2	+	19	2027	c.1972A>T	c.(1972-1974)Acc>Tcc	p.T658S	MAP4K4_ENST00000456652.1_Missense_Mutation_p.T542S|MAP4K4_ENST00000347699.4_Missense_Mutation_p.T743S|MAP4K4_ENST00000350878.4_Missense_Mutation_p.T719S|MAP4K4_ENST00000350198.4_Missense_Mutation_p.T662S|MAP4K4_ENST00000425019.1_Missense_Mutation_p.T712S|MAP4K4_ENST00000302217.5_Missense_Mutation_p.T546S|MAP4K4_ENST00000498066.1_3'UTR|MAP4K4_ENST00000324219.4_Missense_Mutation_p.T824S	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	743				S -> SS (in Ref. 3 and 4).	intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TTAGGATCTGACCGCACTGGC	0.498000													6	9					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175334406	175334406	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:175334406G>A	ENST00000367674.1	-	12	3035	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L	TNR_ENST00000263525.2_Missense_Mutation_p.P776L	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	776	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATGAGAGATGGGACGGAAGCC	0.507000													20	15					0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20358694	20358694	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:20358694G>C	ENST00000423676.3	-	5	525	c.462C>G	c.(460-462)ccC>ccG	p.P154P	LGALS9B_ENST00000324290.5_Silent_p.P154P			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	154							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CAGGCTGAACGGGGACTGTGC	0.582000													9	27					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57766386	57766386	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:57766386G>A	ENST00000371030.2	+	1	312	c.312G>A	c.(310-312)caG>caA	p.Q104Q		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	104	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCCCCACCCAGGTGGGGAAGC	0.711000													7	15					0	0	1	0	0
UCP2	7351	broad.mit.edu	37	11	73689368	73689368	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:73689368C>G	ENST00000310473.3	-	3	898	c.56G>C	c.(55-57)gGg>gCg	p.G19A	UCP2_ENST00000536983.1_Missense_Mutation_p.G19A	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	19					proton transport|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					TGTGCCAGCCCCAAGAAACTT	0.532000													40	27					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65174828	65174828	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:65174828C>T	ENST00000358691.5	-	13	1543	c.1377G>A	c.(1375-1377)cgG>cgA	p.R459R	HELZ_ENST00000580168.1_Silent_p.R459R	NM_014877.3	NP_055692.2			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTCATGTAACCGTGACTGAT	0.378000													39	102					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59480985	59480985	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:59480985C>A	ENST00000307552.2	-	1	352	c.334G>T	c.(334-336)Gat>Tat	p.D112Y	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						AGGACACAATCAGCCCCACCC	0.507000													14	16					6.72482e-11	8.87486e-11	1	1	0
FCN1	2219	broad.mit.edu	37	9	137804379	137804379	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:137804379C>T	ENST00000371806.3	-	7	642	c.551G>A	c.(550-552)gGg>gAg	p.G184E		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	184	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CCAGAACTCCCCCAGCTGACT	0.632000													14	14					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117398005	117398005	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:117398005C>A	ENST00000160373.3	-	11	3283	c.3192G>T	c.(3190-3192)gtG>gtT	p.V1064V		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1064										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCTCTGACCCACTGACCACG	0.443000													7	16					0.00307968	0.00325723	1	1	0
GRIA2	2891	broad.mit.edu	37	4	158256958	158256958	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:158256958G>C	ENST00000296526.7	+	10	1727	c.1402G>C	c.(1402-1404)Gat>Cat	p.D468H	GRIA2_ENST00000393815.2_Missense_Mutation_p.D421H|GRIA2_ENST00000449365.1_Missense_Mutation_p.D421H|GRIA2_ENST00000507898.1_Missense_Mutation_p.D421H|GRIA2_ENST00000264426.9_Missense_Mutation_p.D468H	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	468					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AATTGTTGGTGATGGCAAGTA	0.448000													24	21					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53419726	53419726	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:53419726G>A	ENST00000377942.3	-	2	2876	c.2673C>T	c.(2671-2673)ccC>ccT	p.P891P	PCDH8_ENST00000338862.4_Silent_p.P794P	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	891					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		CCGCCACAGGGGGCGCCGGCT	0.557000													15	23					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38621396	38621396	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:38621396G>T	ENST00000222345.6	+	10	3636	c.3127G>T	c.(3127-3129)Gac>Tac	p.D1043Y		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1043					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCCTTTTGAGGACGGCACTCC	0.617000													27	51					1.13719e-10	1.49018e-10	1	1	0
RNF213	57674	broad.mit.edu	37	17	78265623	78265623	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:78265623G>T	ENST00000582970.1	+	8	1611	c.1468G>T	c.(1468-1470)Gga>Tga	p.G490*	RNF213_ENST00000319921.4_Nonsense_Mutation_p.G490*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.G539*|RNF213_ENST00000456466.1_Nonsense_Mutation_p.G490*	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	490										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCTGGGCTCAGGAGGTAAGTC	0.542000													42	32					4.16155e-14	5.83952e-14	1	1	0
SLC22A12	116085	broad.mit.edu	37	11	64366348	64366348	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:64366348C>A	ENST00000377574.1	+	6	1770	c.1023C>A	c.(1021-1023)ctC>ctA	p.L341L	SLC22A12_ENST00000377572.1_Silent_p.L233L|SLC22A12_ENST00000336464.7_Silent_p.L307L|SLC22A12_ENST00000377567.2_Silent_p.L233L|SLC22A12_ENST00000473690.1_Silent_p.L120L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	341					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCACCCTGCTCCGCATGCCCG	0.657000													12	19					5.50884e-06	6.34584e-06	1	1	0
THSD7A	221981	broad.mit.edu	37	7	11630187	11630187	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:11630187C>G	ENST00000423059.3	-	4	1604	c.1353G>C	c.(1351-1353)caG>caC	p.Q451H		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	451	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGAGGGCCGTCTGGTTGCCGC	0.542000										HNSCC(18;0.044)			19	60					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936548	30936548	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:30936548C>T	ENST00000355537.3	+	2	2226	c.2079C>T	c.(2077-2079)aaC>aaT	p.N693N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCTCCTCTAACGTCACCGAGG	0.697000													21	20					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47253707	47253707	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:47253707C>A	ENST00000296861.2	-	2	1114	c.721G>T	c.(721-723)Gtc>Ttc	p.V241F		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	241					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			GAGGAAGGGACTTCATGGGTT	0.507000													28	50					9.80776e-20	1.51816e-19	1	1	0
ARAP1	116985	broad.mit.edu	37	11	72406093	72406093	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:72406093C>A	ENST00000359373.5	-	27	4477	c.3626G>T	c.(3625-3627)cGc>cTc	p.R1209L	ARAP1_ENST00000334211.8_Missense_Mutation_p.R964L|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1209L|ARAP1_ENST00000426523.1_Missense_Mutation_p.R964L|ARAP1_ENST00000429686.1_Missense_Mutation_p.R903L|ARAP1_ENST00000393605.3_Missense_Mutation_p.R969L|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1209L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1209	Ras-associating.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACGTTCCGGCGATCCAGGAT	0.607000													14	22					2.62699e-14	3.71075e-14	1	1	0
RNF125	54941	broad.mit.edu	37	18	29648277	29648277	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:29648277A>C	ENST00000217740.3	+	6	1121	c.629A>C	c.(628-630)gAg>gCg	p.E210A	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	210					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AATATAATTGAGGAAGCTCTT	0.348000													20	105					0	0	1	0	0
ATP11B	23200	broad.mit.edu	37	3	182590198	182590198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:182590198G>T	ENST00000323116.5	+	18	2181	c.1921G>T	c.(1921-1923)Gag>Tag	p.E641*		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	641					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AAAAGAGTATGAGGAAATAGA	0.343000													45	64					5.48756e-27	9.30881e-27	1	1	0
PLCG2	5336	broad.mit.edu	37	16	81819701	81819701	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:81819701C>T	ENST00000359376.3	+	2	321	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	36	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCCGCAAGTCCACCCCCGAG	0.582000													23	6					0	0	1	0	0
ABCC5	10057	broad.mit.edu	37	3	183700298	183700298	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:183700298T>A	ENST00000334444.6	-	7	1180	c.940A>T	c.(940-942)Att>Ttt	p.I314F	ABCC5_ENST00000265586.6_Missense_Mutation_p.I314F|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	314	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.I314F(1)|p.I314Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTCCCAGAATAATTACATTA	0.502000													19	32					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63530136	63530136	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:63530136G>T	ENST00000536984.2	+	11	2541	c.1847G>T	c.(1846-1848)tGt>tTt	p.C616F	CDH7_ENST00000397968.2_Missense_Mutation_p.C616F|CDH7_ENST00000323011.3_Missense_Mutation_p.C616F			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	616					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				ATACTCGCCTGTGTCTTGACA	0.507000													16	8					1.99824e-07	2.42398e-07	1	1	0
COL25A1	84570	broad.mit.edu	37	4	109839346	109839346	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:109839346T>C	ENST00000399132.1	-	13	1292	c.762A>G	c.(760-762)ccA>ccG	p.P254P	COL25A1_ENST00000399127.1_Silent_p.P250P|COL25A1_ENST00000399126.1_Silent_p.P254P	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	254	Collagen-like 3.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CATTCATCCCTGGAATTCCAG	0.289000													21	29					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2048819	2048819	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:2048819C>A	ENST00000262113.4	+	20	2735	c.2594C>A	c.(2593-2595)aCg>aAg	p.T865K	MYOM2_ENST00000523438.1_Missense_Mutation_p.T290K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	865	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTAAATCAGACGACAACAGCC	0.532000													5	13					0.000673444	0.000728339	1	1	0
DPP6	1804	broad.mit.edu	37	7	154595624	154595624	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:154595624C>G	ENST00000404039.1	+	14	1853	c.1266C>G	c.(1264-1266)gaC>gaG	p.D422E	DPP6_ENST00000332007.3_Missense_Mutation_p.D424E|DPP6_ENST00000427557.1_Missense_Mutation_p.D379E|DPP6_ENST00000377770.3_Missense_Mutation_p.D486E	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	486					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GGGACTGGGACGTGACCAAGA	0.557000													10	7					0	0	1	0	0
ZNF777	27153	broad.mit.edu	37	7	149148096	149148096	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:149148096T>A	ENST00000247930.4	-	4	1404	c.1081A>T	c.(1081-1083)Agt>Tgt	p.S361C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	361	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			TCACCAGCACTGGGATCTGTC	0.567000													13	51					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6374563	6374563	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:6374563T>C	ENST00000262483.8	-	12	1629	c.1542A>G	c.(1540-1542)ccA>ccG	p.P514P	ACKR6_ENST00000421306.3_Silent_p.P478P|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					TCCTCCGTCCTGGGCGCTGGA	0.687000													7	6					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3135565	3135565	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:3135565G>T	ENST00000400569.3	-	15	2522	c.2189C>A	c.(2188-2190)aCt>aAt	p.T730N	MYOM1_ENST00000356443.4_Missense_Mutation_p.T730N|MYOM1_ENST00000261606.7_Missense_Mutation_p.T730N			P52179	MYOM1_HUMAN	myomesin 1	730	Fibronectin type-III 2.					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						CCCTACCACAGTCACCTCCGT	0.448000													5	43					5.9392e-07	7.11173e-07	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41060081	41060081	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:41060081G>T	ENST00000352632.3	+	23	4789	c.4703G>T	c.(4702-4704)gGg>gTg	p.G1568V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1568V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1568V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1568V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G244V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G311V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1568					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGGCGCATGGGCCGCGCCTG	0.746000													3	2					0.150653	0.152397	1	1	0
EMX2	2018	broad.mit.edu	37	10	119305185	119305185	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:119305185T>A	ENST00000553456.3	+	2	1273	c.449T>A	c.(448-450)cTg>cAg	p.L150Q	EMX2_ENST00000546446.1_3'UTR|EMX2_ENST00000442245.4_Intron	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	150						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACAACGCGCTGGCCCGAAAG	0.617000													32	9					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30336469	30336469	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:30336469C>T	ENST00000375377.1	-	2	374	c.273G>A	c.(271-273)tcG>tcA	p.S91S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	91										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						ACCCCGCCTCCGAGGTTCTGG	0.552000													18	29					0	0	1	0	0
C15orf52	388115	broad.mit.edu	37	15	40630016	40630016	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:40630016G>T	ENST00000397536.2	-	2	129	c.94C>A	c.(94-96)Cgg>Agg	p.R32R	C15orf52_ENST00000559313.1_Silent_p.R242R			Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	242										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		ATCTGCTCCCGCTCCTGCTTC	0.697000													12	4					1.08611e-07	1.324e-07	1	1	0
IFNA10	3446	broad.mit.edu	37	9	21206547	21206547	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:21206547T>A	ENST00000357374.2	-	1	595	c.550A>T	c.(550-552)Aga>Tga	p.R184*		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	184					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCCTTAATCTTTTTTGCAAG	0.388000													15	174					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17817340	17817340	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:17817340G>C	ENST00000378814.5	-	17	1910	c.1911C>G	c.(1909-1911)ccC>ccG	p.P637P	KIF13A_ENST00000378816.5_Silent_p.P637P|KIF13A_ENST00000378826.2_Silent_p.P637P|KIF13A_ENST00000378843.2_Silent_p.P637P|KIF13A_ENST00000503342.1_5'UTR|KIF13A_ENST00000259711.6_Silent_p.P637P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	637					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	p.P637P(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTGCCTGTCGGGGGAGAGCT	0.592000													10	51					0	0	1	0	0
SERPINC1	462	broad.mit.edu	37	1	173881080	173881080	+	Nonsense_Mutation	SNP	G	G	A	rs121909562		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:173881080G>A	ENST00000367698.3	-	3	599	c.481C>T	c.(481-483)Cga>Tga	p.R161*		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	161			R -> Q (in AT3D; type-II; Geneva).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CGATAGAGTCGGCAGTTCAGT	0.403000													63	99					0	0	1	0	0
ALDH1A1	216	broad.mit.edu	37	9	75533738	75533738	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:75533738C>A	ENST00000297785.3	-	8	802	c.747_splice	c.e8-1	p.V250_splice	ALDH1A1_ENST00000376939.1_Intron	NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	250					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	AACTTGCCAACCTGAAAGGGA	0.463000													11	39					0.00829132	0.0086828	1	1	0
MUC4	4585	broad.mit.edu	37	3	195515800	195515800	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:195515800C>A	ENST00000463781.3	-	2	3110	c.2651G>T	c.(2650-2652)aGa>aTa	p.R884I	MUC4_ENST00000475231.1_Missense_Mutation_p.R884I|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	889	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCTGTCGGTCTCCCTGCAGT	0.597000													8	14					1.06961e-07	1.30819e-07	1	1	0
SATB2	23314	broad.mit.edu	37	2	200173646	200173646	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:200173646T>A	ENST00000443023.1	-	9	2865	c.1400A>T	c.(1399-1401)aAc>aTc	p.N467I	SATB2_ENST00000417098.1_Missense_Mutation_p.N526I|SATB2_ENST00000260926.5_Missense_Mutation_p.N526I|SATB2_ENST00000457245.1_Missense_Mutation_p.N526I|SATB2_ENST00000428695.1_Missense_Mutation_p.N408I			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	526						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGGCTTGGGTTCTCCTTCCA	0.567000													11	37					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103467481	103467481	+	Splice_Site	SNP	T	T	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:103467481T>G	ENST00000358392.2	-	24	2495	c.2178_splice	c.e24+1	p.K726_splice	COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000353414.4_Splice_Site_p.K675_splice|COL11A1_ENST00000370096.3_Splice_Site_p.K714_splice|COL11A1_ENST00000512756.1_Splice_Site_p.K598_splice	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	714	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGTAACTTACTTTTTCACCAG	0.353000													10	48					0	0	1	0	0
ABCA5	23461	broad.mit.edu	37	17	67305517	67305517	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:67305517T>A	ENST00000392676.3	-	4	419	c.355A>T	c.(355-357)Agt>Tgt	p.S119C	ABCA5_ENST00000392677.2_Missense_Mutation_p.S119C|ABCA5_ENST00000588877.1_Missense_Mutation_p.S119C			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	119					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTAGAGAGACTGGATGTTAAC	0.313000													70	62					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237831201	237831201	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:237831201G>C	ENST00000366574.2	+	58	8850	c.8533G>C	c.(8533-8535)Gct>Cct	p.A2845P	RYR2_ENST00000542537.1_Missense_Mutation_p.A2829P|RYR2_ENST00000360064.6_Missense_Mutation_p.A2843P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2845	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAAATGATGGCTGAAAACTA	0.269000													6	4					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982883	57982883	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:57982883C>A	ENST00000309433.6	+	1	667	c.667C>A	c.(667-669)Ccc>Acc	p.P223T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TATCATCTTCCCCTTTACACT	0.448000													33	45					1.30897e-18	1.99296e-18	1	1	0
CACNA1H	8912	broad.mit.edu	37	16	1255247	1255247	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:1255247G>T	ENST00000348261.5	+	11	2833	c.2585G>T	c.(2584-2586)gGc>gTc	p.G862V	CACNA1H_ENST00000565831.1_Missense_Mutation_p.G862V|CACNA1H_ENST00000358590.4_Missense_Mutation_p.G862V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	862					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ATCTTCGACGGCATCATCGTG	0.602000													16	18					1.15919e-05	1.32504e-05	1	1	0
HNRNPA0	10949	broad.mit.edu	37	5	137089563	137089563	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:137089563T>A	ENST00000314940.4	-	1	476	c.193A>T	c.(193-195)Atg>Ttg	p.M65L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	65	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGGCGGCCATGGCGGCGTCC	0.667000													54	12					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247592948	247592948	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:247592948A>T	ENST00000366497.2	+	5	2998	c.2218A>T	c.(2218-2220)Agc>Tgc	p.S740C	NLRP3_ENST00000366496.2_Missense_Mutation_p.S740C|NLRP3_ENST00000336119.3_Missense_Mutation_p.S740C|NLRP3_ENST00000391828.3_Missense_Mutation_p.S740C|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	797					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGAGCACCAGCCAGAGTCT	0.493000													59	39					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186944247	186944247	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:186944247C>A	ENST00000337774.5	-	12	1892	c.1503G>T	c.(1501-1503)ccG>ccT	p.P501P		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	501	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CACGTAGGGTCGGATCTTCCG	0.567000													5	5					0.217242	0.218566	1	1	0
PORCN	64840	broad.mit.edu	37	X	48372702	48372702	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:48372702C>T	ENST00000367574.4	+	7	1053	c.548C>T	c.(547-549)aCg>aTg	p.T183M	PORCN_ENST00000326194.6_Missense_Mutation_p.T265M|PORCN_ENST00000361988.3_Missense_Mutation_p.T254M|PORCN_ENST00000355961.4_Missense_Mutation_p.T260M|PORCN_ENST00000537758.1_Missense_Mutation_p.T265M|PORCN_ENST00000359882.4_Missense_Mutation_p.T259M|PORCN_ENST00000355092.3_Missense_Mutation_p.T259M			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	265					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAGGCCACGGCCACGTTG	0.622000													15	4					0	0	1	0	0
REL	5966	broad.mit.edu	37	2	61149604	61149604	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:61149604A>T	ENST00000295025.7	+	11	2114	c.1794A>T	c.(1792-1794)tcA>tcT	p.S598S	REL_ENST00000394479.3_Silent_p.S566S	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	598					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			GTCAGTATTCAGGTATTGGCA	0.348000			A		Hodgkin Lymphoma								11	60					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392679	140392679	+	Silent	SNP	C	C	A	rs147570932	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:140392679C>A	ENST00000406427.1	-	17	2112	c.1776G>T	c.(1774-1776)ccG>ccT	p.P592P	PNPLA7_ENST00000277531.4_Silent_p.P567P|PNPLA7_ENST00000371457.1_Silent_p.P173P	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	567					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGACGACGGTCGGCTGCTTCC	0.647000													14	18					3.27435e-08	4.05474e-08	1	1	0
CHD4	1108	broad.mit.edu	37	12	6707248	6707248	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:6707248C>G	ENST00000309577.6	-	12	1867	c.1704G>C	c.(1702-1704)caG>caC	p.Q568H	CHD4_ENST00000544484.1_Missense_Mutation_p.Q565H|CHD4_ENST00000357008.2_Missense_Mutation_p.Q568H|CHD4_ENST00000544040.1_Missense_Mutation_p.Q561H			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	568	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGAACATCACCTGACAGTGCA	0.468000													70	34					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127728888	127728888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:127728888G>T	ENST00000508053.1	-	16	2379	c.1405C>A	c.(1405-1407)Cct>Act	p.P469T	FBN2_ENST00000508989.1_Missense_Mutation_p.P436T|FBN2_ENST00000262464.4_Missense_Mutation_p.P469T			P35556	FBN2_HUMAN	fibrillin 2	469					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCAACGCCAGGAGAAAAGCCA	0.582000													50	81					1.21353e-23	1.98166e-23	1	1	0
USP13	8975	broad.mit.edu	37	3	179460065	179460065	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:179460065G>T	ENST00000263966.3	+	12	1932	c.1461G>T	c.(1459-1461)cgG>cgT	p.R487R	USP13_ENST00000496897.1_Silent_p.R422R|USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	487					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GTCAGACCCGGAAAGTCCGCT	0.502000													18	34					0.000566183	0.000617277	1	1	0
CREB3L1	90993	broad.mit.edu	37	11	46321504	46321504	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:46321504G>T	ENST00000529193.1	+	2	572	c.121G>T	c.(121-123)Gac>Tac	p.D41Y	CREB3L1_ENST00000288400.3_Missense_Mutation_p.D41Y			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	41	Required for transcriptional activation.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		TGAGCACCTGGACCACTTTAC	0.532000			T	FUS	myxofibrosarcoma								7	21					0.0293803	0.030214	1	1	0
PSG7	5676	broad.mit.edu	37	19	43439647	43439647	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:43439647G>T	ENST00000446844.3	-	0	428				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGTCTTCCTGGGTGACATTCT	0.433000													361	84					5.58027e-160	1.06448e-159	1	1	0
KCNJ3	3760	broad.mit.edu	37	2	155711652	155711652	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:155711652G>T	ENST00000295101.2	+	3	1810	c.1333G>T	c.(1333-1335)Ggc>Tgc	p.G445C		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	445					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTCAGTTCCGGGCAACTCAGA	0.433000													52	25					1.4374e-25	2.39997e-25	1	1	0
DOCK10	55619	broad.mit.edu	37	2	225635345	225635345	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:225635345C>A	ENST00000409592.3	-	54	6317	c.6204G>T	c.(6202-6204)atG>atT	p.M2068I	DOCK10_ENST00000258390.7_Missense_Mutation_p.M2074I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	2074	DHR-2.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTGCATAGGCCATTGGCCCAG	0.458000													21	16					6.44725e-10	8.36005e-10	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724158	7724158	+	Silent	SNP	C	C	A	rs144983513	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:7724158C>A	ENST00000303635.7	+	9	1758	c.1551C>A	c.(1549-1551)ccC>ccA	p.P517P	CAMTA1_ENST00000439411.2_Silent_p.P517P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACTCGCCACCCGGGGAGCGGA	0.592000			T	WWTR1	epitheliod hemangioendothelioma								19	56					2.94398e-08	3.65172e-08	1	1	0
LGALS17A	400696	broad.mit.edu	37	19	40172730	40172730	+	RNA	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:40172730T>C	ENST00000412609.1	+	0	231																											GGTCATTGGGTGGTCATGAAC	0.512000													6	10					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26455089	26455089	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:26455089G>T	ENST00000265944.5	+	27	3259	c.3093G>T	c.(3091-3093)tgG>tgT	p.W1031C	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1031	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCGATAACTGGGCTCTTGGAA	0.403000													84	108					9.25274e-37	1.66058e-36	1	1	0
CLEC9A	283420	broad.mit.edu	37	12	10217424	10217424	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:10217424C>A	ENST00000355819.1	+	8	1178	c.565C>A	c.(565-567)Caa>Aaa	p.Q189K		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	189	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						CTGGCTTTGGCAAGATGGCTC	0.448000													31	23					2.65835e-16	3.89961e-16	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	41060080	41060080	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:41060080G>T	ENST00000352632.3	+	23	4788	c.4702G>T	c.(4702-4704)Ggg>Tgg	p.G1568W	SPTBN4_ENST00000598249.1_Missense_Mutation_p.G1568W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.G1568W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.G1568W|SPTBN4_ENST00000392023.1_Missense_Mutation_p.G244W|SPTBN4_ENST00000392025.1_Missense_Mutation_p.G311W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1568					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCGCATGGGCCGCGCCT	0.741000													3	2					0.150653	0.152397	1	1	0
CFB	629	broad.mit.edu	37	6	31901533	31901533	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:31901533T>C	ENST00000556679.1	+	3	458	c.403T>C	c.(403-405)Tgg>Cgg	p.W135R	C2_ENST00000299367.5_Missense_Mutation_p.W197R|C2_ENST00000442278.2_Missense_Mutation_p.W65R|C2_ENST00000418949.2_Missense_Mutation_p.W197R|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Silent_p.S28S|CFB_ENST00000456570.1_Missense_Mutation_p.W135R|C2_ENST00000452323.2_Missense_Mutation_p.W74R			P00751	CFAB_HUMAN	complement factor B	211	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CAACGGGGTCTGGAGTGGAAC	0.652000													85	8					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103317388	103317388	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:103317388C>G	ENST00000520539.1	-	21	3358	c.2752G>C	c.(2752-2754)Gga>Cga	p.G918R	UBR5_ENST00000220959.4_Missense_Mutation_p.G918R|UBR5_ENST00000521922.1_Missense_Mutation_p.G912R	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	918					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTTCGATTTCCATCACATCTG	0.393000													61	121					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6014980	6014980	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:6014980G>A	ENST00000259569.5	-	1	638	c.628C>T	c.(628-630)Ctt>Ttt	p.L210F	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	210					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATTAGCAAGTACAAATGCA	0.408000													8	86					0	0	1	0	0
BMP15	9210	broad.mit.edu	37	X	50659413	50659413	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:50659413C>T	ENST00000252677.3	+	2	985	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	329					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCGAGTACTACGCGATGGTCT	0.507000													28	10					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39433587	39433587	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:39433587C>G	ENST00000280481.7	+	14	7595	c.7379C>G	c.(7378-7380)aCg>aGg	p.T2460R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2460					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)		ACCTTTTTTACGTCATCCAAG	0.552000													16	60					0	0	1	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140719963	140719963	+	Silent	SNP	G	G	C	rs147569184		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140719963G>C	ENST00000394576.2	+	1	1425	c.1425G>C	c.(1423-1425)acG>acC	p.T475T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCAGTGACGGCCCATGACC	0.537000													15	87					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55209258	55209258	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:55209258G>C	ENST00000201031.2	+	5	1099	c.856G>C	c.(856-858)Ggg>Cgg	p.G286R	TFAP2C_ENST00000544508.1_Missense_Mutation_p.G117R	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	286					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			GGACAAGATTGGGTTGAATCT	0.463000													12	42					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59912039	59912039	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:59912039G>T	ENST00000256858.6	+	11	1911	c.1663G>T	c.(1663-1665)Gag>Tag	p.E555*	KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.E555*			Q9P260	K1468_HUMAN	KIAA1468	555							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				TCTACATCCTGAGCCTAAAGA	0.373000													17	12					3.52763e-06	4.08897e-06	1	1	0
ZNF792	126375	broad.mit.edu	37	19	35449726	35449726	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:35449726T>A	ENST00000404801.1	-	4	1419	c.1033A>T	c.(1033-1035)Aaa>Taa	p.K345*	ZNF792_ENST00000605484.1_Nonsense_Mutation_p.K278*	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGAAGAATTTCCCACAGTCA	0.512000													29	24					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297552	197297552	+	Splice_Site	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:197297552A>G	ENST00000367400.3	+	2	206	c.70_splice	c.e2-1	p.N24_splice	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Splice_Site_p.N24_splice|CRB1_ENST00000538660.1_Splice_Site_p.N24_splice	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	24					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						TTCCTTGTAGATTCCTTTTGC	0.308000													21	13					0	0	1	0	0
MAGEA10	4109	broad.mit.edu	37	X	151303777	151303777	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:151303777C>G	ENST00000370323.4	-	4	632	c.316G>C	c.(316-318)Gat>Cat	p.D106H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.D106H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	106										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAGCCCTCATCAGATTGATCT	0.527000													133	23					0	0	1	0	0
KLB	152831	broad.mit.edu	37	4	39408722	39408722	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:39408722T>A	ENST00000257408.4	+	1	250	c.153T>A	c.(151-153)acT>acA	p.T51T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	51					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GAGCTGTTACTGGATTCTCTG	0.408000													22	59					0	0	1	0	0
SLC7A10	56301	broad.mit.edu	37	19	33703799	33703799	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:33703799G>T	ENST00000253188.3	-	3	612	c.466C>A	c.(466-468)Ccc>Acc	p.P156T		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	156					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GTGGTGGGGGGGATGCAGTTG	0.632000													42	38					9.9998e-32	1.75854e-31	1	1	0
HNRNPUL1	11100	broad.mit.edu	37	19	41778033	41778033	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:41778033G>T	ENST00000392006.3	+	3	638	c.465G>T	c.(463-465)ccG>ccT	p.P155P	HNRNPUL1_ENST00000352456.3_Silent_p.P55P|HNRNPUL1_ENST00000602130.1_Silent_p.P155P|HNRNPUL1_ENST00000263367.3_Silent_p.P66P|HNRNPUL1_ENST00000593587.1_Silent_p.P55P|HNRNPUL1_ENST00000378215.4_Silent_p.P112P|HNRNPUL1_ENST00000595018.1_Silent_p.P55P|HNRNPUL1_ENST00000594207.1_3'UTR	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	155					nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						GCTTCCTCCCGCCTGAAGCTT	0.517000													27	152					2.41591e-17	3.59004e-17	1	1	0
TRIM54	57159	broad.mit.edu	37	2	27528552	27528552	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:27528552G>T	ENST00000296098.4	+	6	1106	c.836G>T	c.(835-837)cGg>cTg	p.R279L	TRIM54_ENST00000380075.2_Missense_Mutation_p.R237L	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	237	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGCTGGCCCGGGAGCAAGAG	0.627000													9	11					0.000442599	0.00048325	1	1	0
C10orf120	399814	broad.mit.edu	37	10	124457544	124457544	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:124457544C>G	ENST00000329446.4	-	3	744	c.713G>C	c.(712-714)aGa>aCa	p.R238T		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	238								p.R238T(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TATTTCTCGTCTTTTTGTGTT	0.358000													38	11					0	0	1	0	0
HEPN1	641654	broad.mit.edu	37	11	124789807	124789807	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:124789807C>A	ENST00000408930.5	+	1	662	c.161C>A	c.(160-162)cCt>cAt	p.P54H	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	54						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		GCCCTCTCTCCTCACACAGTA	0.498000													50	24					6.61955e-31	1.15725e-30	1	1	0
GPR111	222611	broad.mit.edu	37	6	47646847	47646847	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:47646847C>A	ENST00000398742.2	+	3	293	c.244C>A	c.(244-246)Ctt>Att	p.L82I	GPR111_ENST00000296862.1_Missense_Mutation_p.L150I|GPR111_ENST00000507065.1_Missense_Mutation_p.L82I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L150I(2)|p.L82I(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTGCCAGACTCTTAATGCCCT	0.458000													55	40					3.21867e-24	5.31046e-24	1	1	0
FAT3	120114	broad.mit.edu	37	11	92623878	92623878	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:92623878G>T	ENST00000298047.6	+	27	13386	c.13369G>T	c.(13369-13371)Gag>Tag	p.E4457*	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000525166.1_Nonsense_Mutation_p.E4307*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.E4425*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.E760*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4457	Pro-rich.				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)				TCCTCTCCCGGAGGACTTCCC	0.582000										TCGA Ovarian(4;0.039)			14	23					0.000151284	0.000168396	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121650872	121650872	+	Missense_Mutation	SNP	C	C	A	rs140937221		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:121650872C>A	ENST00000393386.2	+	12	2183	c.1772C>A	c.(1771-1773)cCc>cAc	p.P591H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.P591H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	591					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGCTCCAGTCCCGCAACTTCT	0.398000													32	41					2.70662e-09	3.44943e-09	1	1	0
ST8SIA3	51046	broad.mit.edu	37	18	55024371	55024371	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:55024371G>A	ENST00000324000.3	+	3	2564	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	177					glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		AGCCAGTGTGGACAAGAAATA	0.423000													8	72					0	0	1	0	0
GNG4	2786	broad.mit.edu	37	1	235715445	235715445	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:235715445G>C	ENST00000391854.2	-	4	645	c.192C>G	c.(190-192)ccC>ccG	p.P64P	GNG4_ENST00000450593.1_Silent_p.P64P|GNG4_ENST00000366598.4_Silent_p.P64P|GNG4_ENST00000366597.1_Silent_p.P64P|GNG4_ENST00000484517.1_5'UTR	NM_001098722.1|NM_004485.3	NP_001092192.1|NP_004476.1	P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	64					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			TCTCGCGAAAGGGGTTTTCTG	0.522000													95	68					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622674	38622674	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:38622674G>C	ENST00000413689.1	-	17	3169	c.2976C>G	c.(2974-2976)ccC>ccG	p.P992P	SCN5A_ENST00000449557.2_Silent_p.P992P|SCN5A_ENST00000450102.2_Silent_p.P992P|SCN5A_ENST00000443581.1_Silent_p.P992P|SCN5A_ENST00000451551.2_Silent_p.P992P|SCN5A_ENST00000414099.2_Silent_p.P992P|SCN5A_ENST00000333535.4_Silent_p.P992P|SCN5A_ENST00000423572.2_Silent_p.P992P|SCN5A_ENST00000425664.1_Silent_p.P992P|SCN5A_ENST00000455624.2_Silent_p.P992P	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	992					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAAGGGCTGCGGGCTTCTGAG	0.687000													13	3					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18844903	18844903	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:18844903G>T	ENST00000412938.1	+	0	3153																											GCTTCAGCGTGCCTGCGATGG	0.577000													13	78					0.0135373	0.0140674	1	1	0
PCDHA5	56143	broad.mit.edu	37	5	140202852	140202852	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140202852G>T	ENST00000529859.1	+	1	1492	c.1492G>T	c.(1492-1494)Gtg>Ttg	p.V498L	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V498L|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V498L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGCGGCGGGTGGGCGAGCG	0.677000													86	17					6.71967e-41	1.22671e-40	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67132284	67132284	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:67132284A>T	ENST00000284425.2	-	4	583	c.409T>A	c.(409-411)Tta>Ata	p.L137I	ABCA6_ENST00000590645.1_Missense_Mutation_p.L137I	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	137					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAAATATTAACTTATAAGAG	0.318000													28	13					0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133943133	133943133	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:133943133A>T	ENST00000285928.2	+	19	2392	c.2323A>T	c.(2323-2325)Agt>Tgt	p.S775C		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	775							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AGCCAGTGACAGTGAGACCGA	0.537000													30	51					0	0	1	0	0
CARD17	440068	broad.mit.edu	37	11	104971435	104971435	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:104971435C>A	ENST00000375707.1	-	2	95	c.79G>T	c.(79-81)Ggt>Tgt	p.G27C	CASP1_ENST00000598974.1_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron|CARD16_ENST00000525374.1_Intron	NM_001007232.1	NP_001007233.1			caspase recruitment domain family, member 17											breast(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	6						AATAATTCACCCAGTAAGCCA	0.443000													53	154					8.72198e-27	1.47283e-26	1	1	0
FER	2241	broad.mit.edu	37	5	108207179	108207179	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:108207179A>G	ENST00000281092.4	+	7	1163	c.779A>G	c.(778-780)tAc>tGc	p.Y260C	FER_ENST00000536402.1_Missense_Mutation_p.Y260C|FER_ENST00000438717.2_Missense_Mutation_p.Y85C	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	260	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AGTACAGAATACAATAATTTC	0.323000													25	55					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370111	36370111	+	Missense_Mutation	SNP	G	G	T	rs148071646	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:36370111G>T	ENST00000221891.4	+	16	2041	c.1849G>T	c.(1849-1851)Gtg>Ttg	p.V617L	APLP1_ENST00000537454.2_Missense_Mutation_p.V577L|APLP1_ENST00000586861.1_Missense_Mutation_p.V610L	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	616					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCATGGCGTGGTGGAGGT	0.667000													39	62					1.49673e-21	2.38386e-21	1	1	0
NOP16	51491	broad.mit.edu	37	5	175813905	175813905	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:175813905C>A	ENST00000389158.5	-	3	657	c.222G>T	c.(220-222)aaG>aaT	p.K74N	NOP16_ENST00000509257.1_Missense_Mutation_p.K74N|NOP16_ENST00000507413.1_Intron|NOP16_ENST00000510123.1_Missense_Mutation_p.K74N			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	74						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						CCTCCATGGCCTTCACCTGCA	0.478000													17	46					5.01169e-05	5.64195e-05	1	1	0
PALD1	27143	broad.mit.edu	37	10	72292441	72292441	+	Missense_Mutation	SNP	G	G	T	rs145337663	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:72292441G>T	ENST00000263563.6	+	6	966	c.698G>T	c.(697-699)tGg>tTg	p.W233L		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GAGGACCTGTGGGGGGAGCCC	0.602000													48	83					1.22102e-19	1.88807e-19	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174422	150174422	+	Silent	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:150174422T>C	ENST00000307271.3	+	5	2126	c.1552T>C	c.(1552-1554)Ttg>Ctg	p.L518L		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	518						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CAAGCGCTGTTTGTCCTGCTG	0.527000													50	52					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958585	143958585	+	Missense_Mutation	SNP	G	G	C	rs142484434		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:143958585G>C	ENST00000292427.4	-	3	481	c.449C>G	c.(448-450)tCg>tGg	p.S150W	CYP11B1_ENST00000517471.1_Missense_Mutation_p.S150W|CYP11B1_ENST00000377675.3_Missense_Mutation_p.S221W	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	150					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCGTTGGGCGACAGCACTTC	0.622000									Familial Hyperaldosteronism type I				6	32					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43519229	43519229	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:43519229C>T	ENST00000395891.1	+	17	3725	c.3120C>T	c.(3118-3120)aaC>aaT	p.N1040N	HECW1_ENST00000453890.1_Silent_p.N1006N	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1040	WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGACCACAACAGTCGAGCTA	0.488000													83	101					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159687218	159687218	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:159687218T>C	ENST00000297267.9	+	21	5587	c.5387T>C	c.(5386-5388)gTg>gCg	p.V1796A	FNDC1_ENST00000340366.6_Missense_Mutation_p.V1733A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1796						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGAAAGTTCGTGGGAGTTGTT	0.468000													37	38					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130221303	130221303	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:130221303C>G	ENST00000323301.4	+	6	878	c.274C>G	c.(274-276)Cag>Gag	p.Q92E	LRSAM1_ENST00000373324.4_Missense_Mutation_p.Q92E|LRSAM1_ENST00000373322.1_Missense_Mutation_p.Q92E|LRSAM1_ENST00000300417.6_Missense_Mutation_p.Q92E	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	92					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCACGATAATCAGCTGACAGC	0.572000													15	35					0	0	1	0	0
SLC9A4	389015	broad.mit.edu	37	2	103128688	103128688	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:103128688C>A	ENST00000295269.4	+	7	1972	c.1515C>A	c.(1513-1515)atC>atA	p.I505I		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	505					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AGGCTGGAATCGAAGATGTGT	0.463000													29	65					1.74807e-11	2.3339e-11	1	1	0
SAMD9	54809	broad.mit.edu	37	7	92733351	92733351	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:92733351C>A	ENST00000379958.2	-	3	2329	c.2060G>T	c.(2059-2061)gGc>gTc	p.G687V		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	687						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)			TGACACTTTGCCACCTCGATA	0.353000													64	100					4.09171e-25	6.80121e-25	1	1	0
NAV3	89795	broad.mit.edu	37	12	78579398	78579398	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:78579398G>T	ENST00000397909.2	+	31	5883	c.5710G>T	c.(5710-5712)Gct>Tct	p.A1904S	NAV3_ENST00000536525.2_Missense_Mutation_p.A1882S|NAV3_ENST00000266692.7_Missense_Mutation_p.A1705S|NAV3_ENST00000228327.6_Missense_Mutation_p.A1882S|NAV3_ENST00000552300.1_3'UTR			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1904						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCTAGATGATGCTGGTGATGC	0.358000										HNSCC(70;0.22)			8	31					0.00448238	0.00471729	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58190173	58190173	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:58190173G>T	ENST00000318203.5	+	5	1899	c.1202G>T	c.(1201-1203)tGt>tTt	p.C401F		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	401					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTCCCTTTTGTAAGACAAGC	0.468000													130	25					8.39346e-61	1.58685e-60	1	1	0
ADCY9	115	broad.mit.edu	37	16	4016167	4016167	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:4016167T>C	ENST00000294016.3	-	11	4209	c.3671A>G	c.(3670-3672)gAc>gGc	p.D1224G		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1224					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTCTGTAGTCGAAGTCATA	0.577000													23	99					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33177789	33177789	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:33177789A>G	ENST00000374656.4	+	4	545	c.337A>G	c.(337-339)Agc>Ggc	p.S113G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	113	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GATCTATCCTAGCCGGGAGGA	0.572000													58	6					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065771	23065771	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:23065771G>T	ENST00000246006.4	-	1	1206	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	353	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTGGGCACAGGGGGAGTCCT	0.637000													10	36					9.70103e-10	1.2492e-09	1	1	0
SLC9B1	150159	broad.mit.edu	37	4	103822417	103822417	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:103822417C>T	ENST00000296422.7	-	12	1546	c.1405G>A	c.(1405-1407)Gtg>Atg	p.V469M	SLC9B1_ENST00000512651.2_5'UTR|SLC9B1_ENST00000394789.3_Intron	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	469						integral to membrane	solute:hydrogen antiporter activity										ACTGTCATCACATCCTTCGCA	0.473000													12	196					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160494825	160494825	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:160494825G>A	ENST00000356956.1	+	35	5132	c.4984G>A	c.(4984-4986)Gac>Aac	p.D1662N		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1662					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTCTATTGTTGACTTGTCTCC	0.418000													21	32					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225670000	225670000	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:225670000C>T	ENST00000409592.3	-	36	4069	c.3956G>A	c.(3955-3957)cGa>cAa	p.R1319Q	DOCK10_ENST00000258390.7_Missense_Mutation_p.R1325Q			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1325							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTTGTCAAATCGAAGAGTTGA	0.393000													26	71					0	0	1	0	0
COCH	1690	broad.mit.edu	37	14	31346777	31346777	+	Splice_Site	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:31346777G>A	ENST00000460581.2	+	2	292		c.e2-1		COCH_ENST00000216361.4_Splice_Site|COCH_ENST00000475087.1_Splice_Site|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000396618.3_Splice_Site			O43405	COCH_HUMAN	cochlin						sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTTTTCTTCAGCTCCCATTGC	0.443000													15	80					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70929817	70929817	+	Silent	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:70929817A>C	ENST00000334414.6	-	29	6113	c.6069T>G	c.(6067-6069)gtT>gtG	p.V2023V	PTPRB_ENST00000550857.1_Silent_p.V1715V|PTPRB_ENST00000538708.1_Silent_p.V1715V|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550358.1_Silent_p.V1935V|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000451516.2_Silent_p.V1715V|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000261266.5_Silent_p.V1805V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1805					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGCCCTTCTCAACACACTGGG	0.498000													19	28					0	0	1	0	0
KRT8P12	90133	broad.mit.edu	37	3	160285616	160285616	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:160285616G>T	ENST00000468527.1	+	0	627																											GGTTTAGCCTGCTGCCTCCAC	0.512000													3	6					1	1	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150171653	150171653	+	Silent	SNP	G	G	A	rs149276246	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:150171653G>A	ENST00000307271.3	+	4	1810	c.1236G>A	c.(1234-1236)gcG>gcA	p.A412A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	412						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.A412A(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		AAAGGCAGGCGGACGAGCTCC	0.413000													17	128					0	0	1	0	0
MED15	51586	broad.mit.edu	37	22	20921055	20921055	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:20921055C>T	ENST00000263205.7	+	7	1061	c.992C>T	c.(991-993)gCg>gTg	p.A331V	MED15_ENST00000542773.1_Missense_Mutation_p.A136V|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.A331V|MED15_ENST00000406969.1_Missense_Mutation_p.A305V|MED15_ENST00000541476.1_Missense_Mutation_p.A305V|MED15_ENST00000382974.2_Missense_Mutation_p.A260V|MED15_ENST00000425759.2_Missense_Mutation_p.A220V	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	331	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTCACAGGCGCAAGCTCTC	0.587000													15	104					0	0	1	0	0
MT1HL1	645745	broad.mit.edu	37	1	237167587	237167587	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:237167587C>A	ENST00000464121.2	-	1	131	c.86G>T	c.(85-87)tGc>tTc	p.C29F		NM_001276687.1	NP_001263616.1			metallothionein 1H-like 1																		GCTCTTCTTGCAGGAGGTGCA	0.622000													5	32					0.014758	0.0152718	1	1	0
NOS3	4846	broad.mit.edu	37	7	150696404	150696404	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:150696404G>C	ENST00000297494.3	+	9	1440	c.1083G>C	c.(1081-1083)gaG>gaC	p.E361D	NOS3_ENST00000467517.1_Missense_Mutation_p.E361D|NOS3_ENST00000461406.1_Missense_Mutation_p.E155D|NOS3_ENST00000484524.1_Missense_Mutation_p.E361D	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	361	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGAGCACTGAGATCGGCACGA	0.632000													72	93					0	0	1	0	0
OR9G1	390174	broad.mit.edu	37	11	56468138	56468138	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:56468138C>A	ENST00000312153.1	+	1	275	c.275C>A	c.(274-276)tCc>tAc	p.S92Y		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AAAAGCATCTCCTTTGCTGGC	0.498000													21	85					7.92952e-12	1.06636e-11	1	1	0
E2F7	144455	broad.mit.edu	37	12	77436980	77436980	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:77436980C>A	ENST00000322886.7	-	7	1224		c.e7-1		E2F7_ENST00000416496.2_Splice_Site	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7						cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CGTACCTTTGCTTGAAGATAT	0.443000													44	51					4.01765e-15	5.74061e-15	1	1	0
RNF180	285671	broad.mit.edu	37	5	63509792	63509792	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:63509792G>T	ENST00000389100.4	+	4	711	c.639G>T	c.(637-639)caG>caT	p.Q213H	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.Q213H	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	213						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		TTGTTCCCCAGCTTGTGACTG	0.413000													37	61					1.04352e-10	1.37106e-10	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113299447	113299447	+	Silent	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:113299447T>A	ENST00000297405.5	-	58	9421	c.9177A>T	c.(9175-9177)ccA>ccT	p.P3059P	CSMD3_ENST00000455883.2_Silent_p.P2890P|CSMD3_ENST00000352409.3_Silent_p.P2989P|CSMD3_ENST00000343508.3_Silent_p.P3019P	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3059	Sushi 22.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGGGAGTACCTGGATCGCCAC	0.438000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			40	94					0	0	1	0	0
TMCC1	23023	broad.mit.edu	37	3	129370402	129370402	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:129370402C>A	ENST00000393238.3	-	6	2224	c.1884G>T	c.(1882-1884)gtG>gtT	p.V628V	TMCC1_ENST00000426664.2_Silent_p.V514V|TMCC1_ENST00000432054.2_Silent_p.V304V|TMCC1_ENST00000329333.5_Silent_p.V449V	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	628						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAATAAAAACCACAAGGAATA	0.493000													56	67					3.07002e-29	5.28626e-29	1	1	0
GPHN	10243	broad.mit.edu	37	14	67431988	67431988	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:67431988G>T	ENST00000478722.1	+	9	2030	c.909G>T	c.(907-909)tcG>tcT	p.S303S	GPHN_ENST00000543237.1_Silent_p.S283S|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000315266.5_Silent_p.S270S|GPHN_ENST00000459628.1_Silent_p.S285S|GPHN_ENST00000305960.9_Silent_p.S239S	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	270	Interaction with GABARAP (By similarity).				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		CTTCAGAATCGCCTCGTGCTC	0.498000			T	MLL	AL								74	73					4.14589e-37	7.44958e-37	1	1	0
NFATC2	4773	broad.mit.edu	37	20	50048686	50048686	+	Silent	SNP	C	C	A	rs146886244	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:50048686C>A	ENST00000371564.3	-	9	2859	c.2640G>T	c.(2638-2640)ccG>ccT	p.P880P	NFATC2_ENST00000396009.3_Silent_p.P880P|NFATC2_ENST00000414705.1_Silent_p.P860P	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	880					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGTCACTGACCGGGGGTCCGT	0.547000													52	33					3.76525e-18	5.68614e-18	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32525453	32525453	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr21:32525453C>A	ENST00000286827.3	-	19	3643		c.e19-1		TIAM1_ENST00000541036.1_Splice_Site	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGTTTAAATCCTAAGAATTGA	0.318000													86	16					7.31121e-38	1.3185e-37	1	1	0
TAS2R41	259287	broad.mit.edu	37	7	143175616	143175616	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:143175616C>G	ENST00000408916.1	+	1	651	c.651C>G	c.(649-651)aaC>aaG	p.N217K	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	217					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TGCAGCACAACGGGCACAGCC	0.478000													28	56					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7618870	7618870	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:7618870G>C	ENST00000221249.6	+	22	2687	c.2256G>C	c.(2254-2256)acG>acC	p.T752T	PNPLA6_ENST00000450331.3_Silent_p.T752T|PNPLA6_ENST00000600737.1_Silent_p.T790T|PNPLA6_ENST00000414982.3_Silent_p.T800T|PNPLA6_ENST00000545201.2_Silent_p.T725T	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	791					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGGCCTTCACGCTGGAGCTGC	0.632000													41	7					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196967416	196967416	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:196967416C>A	ENST00000367414.5	+	7	1257	c.1201C>A	c.(1201-1203)Cct>Act	p.P401T	CFHR5_ENST00000256785.4_Missense_Mutation_p.P377T	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	377	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GAAATGGAATCCTGAAGTAGA	0.308000													18	19					1.78486e-19	2.74566e-19	1	1	0
SERPINB11	89778	broad.mit.edu	37	18	61377441	61377441	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:61377441G>T	ENST00000544088.1	+	0	76				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GGTTCTCTCAGCACAGCTAAC	0.393000											OREG0003822	type=REGULATORY REGION|Gene=SERPINB11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	2					3.09899e-07	3.74398e-07	1	1	0
DHX58	79132	broad.mit.edu	37	17	40257126	40257126	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:40257126G>T	ENST00000251642.3	-	10	1533	c.1311C>A	c.(1309-1311)gcC>gcA	p.A437A		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	437	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CCACACTCGTGGCCACCAGAA	0.557000													15	29					0.000219431	0.000243703	1	1	0
CUBN	8029	broad.mit.edu	37	10	17110259	17110259	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:17110259C>A	ENST00000377833.4	-	21	2877	c.2812G>T	c.(2812-2814)Gaa>Taa	p.E938*		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	938	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCTGTTGATTCTGTAAGAATT	0.383000													35	67					1.836e-18	2.78398e-18	1	1	0
SLC2A5	6518	broad.mit.edu	37	1	9107749	9107749	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:9107749G>A	ENST00000377424.4	-	4	517	c.338C>T	c.(337-339)gCg>gTg	p.A113V	SLC2A5_ENST00000536305.1_Missense_Mutation_p.A54V|SLC2A5_ENST00000535586.1_5'UTR|SLC2A5_ENST00000377414.3_Missense_Mutation_p.A113V	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	113					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity	p.A113E(2)		endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CATTAAGATCGCAGGCACGAT	0.403000													22	74					0	0	1	0	0
HRH3	11255	broad.mit.edu	37	20	60793575	60793575	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:60793575T>C	ENST00000340177.5	-	2	673	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	HRH3_ENST00000317393.6_Missense_Mutation_p.Y130C	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	130					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GAAGCGGTCGTAGCTGATGAG	0.652000													3	14					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58482886	58482886	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:58482886G>T	ENST00000344743.3	-	3	233	c.92C>A	c.(91-93)aCt>aAt	p.T31N	GLYAT_ENST00000529732.1_Missense_Mutation_p.T31N|GLYAT_ENST00000278400.3_Missense_Mutation_p.T31N	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	31					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GTGAAAGACAGTTCCATAAAC	0.383000													15	36					0.00244969	0.0026039	1	1	0
FGB	2244	broad.mit.edu	37	4	155487111	155487111	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:155487111C>A	ENST00000302068.4	+	2	329	c.266C>A	c.(265-267)gCc>gAc	p.A89D	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	89			Missing (in New York-1).		platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAAAGAAAAGCCCCTGATGCT	0.577000													19	25					9.7654e-05	0.000108944	1	1	0
IGKV5-2	28907	broad.mit.edu	37	2	89196826	89196826	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:89196826C>A	ENST00000390244.2	+	0	79																											GTCCCAGGTTCACCTCCTCAG	0.463000													3	16					6.4e-05	7.18467e-05	1	1	0
DLX2	1746	broad.mit.edu	37	2	172965286	172965286	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:172965286C>T	ENST00000234198.4	-	3	1333	c.972G>A	c.(970-972)gcG>gcA	p.A324A	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			AAATCGTCCCCGCGCTCACCG	0.682000													19	24					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484274	150484274	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:150484274C>T	ENST00000369047.4	+	7	1175	c.1050C>T	c.(1048-1050)cgC>cgT	p.R350R	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Silent_p.R377R|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	350	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCTGCTGCCGCCAGGGGAACA	0.617000													15	62					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466862	56466862	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:56466862G>T	ENST00000291971.3	+	3	1509	c.1438G>T	c.(1438-1440)Gat>Tat	p.D480Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D480Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	480	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCCAAGCTGGATCAGACGGG	0.502000													126	32					6.25824e-51	1.16978e-50	1	1	0
TUB	7275	broad.mit.edu	37	11	8117131	8117131	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:8117131G>T	ENST00000305253.4	+	6	890	c.649G>T	c.(649-651)Gcc>Tcc	p.A217S	TUB_ENST00000534099.1_Missense_Mutation_p.A168S|TUB_ENST00000299506.2_Missense_Mutation_p.A162S	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	162					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GTCAGACCACGCCCAGGACGC	0.682000													4	11					0.00909568	0.00946511	1	1	0
DNAH3	55567	broad.mit.edu	37	16	20955856	20955856	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr16:20955856G>T	ENST00000261383.3	-	58	11472	c.11473C>A	c.(11473-11475)Ctc>Atc	p.L3825I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3825					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTCTAGGGAGGGTCAGCAGG	0.562000													23	28					3.5997e-14	5.0751e-14	1	1	0
TRIML1	339976	broad.mit.edu	37	4	189063588	189063588	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:189063588C>G	ENST00000332517.3	+	3	827	c.687C>G	c.(685-687)atC>atG	p.I229M	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	229					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAAAATGATCGCACAGATTG	0.403000													39	42					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91843634	91843634	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:91843634G>C	ENST00000370425.3	-	11	1441	c.1343C>G	c.(1342-1344)gCt>gGt	p.A448G	HFM1_ENST00000370424.3_Missense_Mutation_p.A127G|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	448	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CATTGGAATAGCAGTGCTGGT	0.353000													16	56					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209368	140209368	+	Silent	SNP	G	G	T	rs143264790	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140209368G>T	ENST00000529310.1	+	1	1806	c.1692G>T	c.(1690-1692)gcG>gcT	p.A564A	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCGGCGCTGCTGGCGC	0.692000													13	63					2.31682e-05	2.62408e-05	1	1	0
IDO1	3620	broad.mit.edu	37	8	39785377	39785377	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:39785377G>T	ENST00000518237.1	+	10	1524	c.885G>T	c.(883-885)atG>atT	p.M295I	RP11-44K6.3_ENST00000517623.1_RNA|IDO1_ENST00000522495.1_Missense_Mutation_p.M295I	NM_002164.5	NP_002155.1	P14902	I23O1_HUMAN	indoleamine 2,3-dioxygenase 1	295					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	TCCAGGACATGAGAAGATATA	0.483000													5	4					0.000602214	0.000653205	1	1	0
TCHHL1	126637	broad.mit.edu	37	1	152057969	152057969	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152057969G>C	ENST00000368806.1	-	3	2253	c.2189C>G	c.(2188-2190)gCc>gGc	p.A730G		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	730							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGAGGGAGGCTGAATTGTC	0.443000													60	159					0	0	1	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953623	8953623	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:8953623C>A	ENST00000595891.1	+	3	500	c.269C>A	c.(268-270)gCc>gAc	p.A90D	MBD3L1_ENST00000305625.2_Missense_Mutation_p.A90D			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	90	Transcription repressor.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TTGGATCTTGCCAATACCTTG	0.552000													53	17					9.57592e-29	1.64697e-28	1	1	0
C8orf22	492307	broad.mit.edu	37	8	49986616	49986616	+	Splice_Site	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:49986616A>T	ENST00000303202.8	+	3	228		c.e3-1		C8orf22_ENST00000517663.1_Splice_Site|C8orf22_ENST00000399653.4_Splice_Site|C8orf22_ENST00000522267.1_Splice_Site	NM_001256598.1	NP_001243527.1	Q8WWR9	PDPFL_HUMAN	chromosome 8 open reading frame 22											large_intestine(1)|lung(7)|prostate(1)	9		all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TGTTTCCTACAGAGTCCAGTG	0.343000													27	19					0	0	1	0	0
GLUD2	2747	broad.mit.edu	37	X	120181630	120181630	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:120181630G>T	ENST00000328078.1	+	1	169	c.92G>T	c.(91-93)gGc>gTc	p.G31V		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	31					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCGTTGCTGGGCCGGGGCCGC	0.781000													8	0					0.000442599	0.00048325	1	1	0
USH2A	7399	broad.mit.edu	37	1	216498790	216498790	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:216498790G>T	ENST00000366943.2	-	6	1386	c.1000C>A	c.(1000-1002)Cgg>Agg	p.R334R	USH2A_ENST00000307340.3_Silent_p.R334R|USH2A_ENST00000366942.3_Silent_p.R334R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	334	Laminin N-terminal.		R -> Q (in USH2A).|R -> W (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGATTCAACCGTGACACTCTA	0.468000										HNSCC(13;0.011)			44	38					6.68952e-21	1.05415e-20	1	1	0
APOB	338	broad.mit.edu	37	2	21232392	21232392	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:21232392G>C	ENST00000233242.1	-	26	7475	c.7348C>G	c.(7348-7350)Ctc>Gtc	p.L2450V		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2450					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			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)	TCACCATTGAGTCTCTGAGTC	0.378000													53	67					0	0	1	0	0
EPB41L5	57669	broad.mit.edu	37	2	120848001	120848001	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:120848001G>T	ENST00000263713.5	+	12	1166	c.952G>T	c.(952-954)Gag>Tag	p.E318*	EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E318*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E318*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E318*|EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E318*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	318	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATGTGCTGTGGAGCATCATGC	0.383000													53	15					1.07234e-20	1.68625e-20	1	1	0
RASEF	158158	broad.mit.edu	37	9	85615105	85615105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:85615105C>A	ENST00000376447.3	-	12	1962	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	568					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTTATATTTTCTCGAAATTCA	0.428000													29	57					7.63215e-27	1.29173e-26	1	1	0
PRKDC	5591	broad.mit.edu	37	8	48845668	48845668	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:48845668A>T	ENST00000314191.2	-	16	1744	c.1688T>A	c.(1687-1689)tTa>tAa	p.L563*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L563*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	563					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ATCATAAAGTAAATGATTCAG	0.294000								Non-homologous end-joining					9	7					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57974760	57974760	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:57974760C>A	ENST00000455537.2	+	24	2834	c.2560C>A	c.(2560-2562)Ctg>Atg	p.L854M	KIF5A_ENST00000286452.5_Missense_Mutation_p.L765M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	854					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAATGCAGATCTGCGTTGTGA	0.552000													8	22					0.00307968	0.00325723	1	1	0
CCDC120	90060	broad.mit.edu	37	X	48921477	48921477	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:48921477G>T	ENST00000376396.3	+	5	488	c.269G>T	c.(268-270)cGc>cTc	p.R90L	CCDC120_ENST00000422185.2_Missense_Mutation_p.R90L|CCDC120_ENST00000496529.2_Missense_Mutation_p.R90L|CCDC120_ENST00000536628.2_Missense_Mutation_p.R78L|CCDC120_ENST00000603986.1_Missense_Mutation_p.R125L|CCDC120_ENST00000597275.1_Missense_Mutation_p.R90L	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	90							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCCACAGCCCGCGCCTACCCT	0.682000													7	3					0.00307968	0.00325723	1	1	0
DFNA5	1687	broad.mit.edu	37	7	24749964	24749964	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:24749964C>G	ENST00000545231.1	-	8	1399	c.249G>C	c.(247-249)aaG>aaC	p.K83N	DFNA5_ENST00000409775.3_Missense_Mutation_p.K247N|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.K83N|DFNA5_ENST00000419307.1_Missense_Mutation_p.K83N|DFNA5_ENST00000342947.3_Missense_Mutation_p.K247N			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	247					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						CAATTCTCTTCTTGTTCTCGA	0.493000													53	79					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25948960	25948960	+	Nonstop_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:25948960A>T	ENST00000398988.3	+	22	2733	c.2288A>T	c.(2287-2289)tAg>tTg	p.*763L	KSR1_ENST00000319524.6_Intron|KSR1_ENST00000582410.1_Nonstop_Mutation_p.*114L|KSR1_ENST00000578981.1_Intron|KSR1_ENST00000268763.6_Intron	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	0	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		TGTAGGTTGTAGGCCTGGCTG	0.517000													14	13					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3438938	3438938	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:3438938C>G	ENST00000301365.4	-	7	844	c.713G>C	c.(712-714)gGc>gCc	p.G238A	TRPV3_ENST00000572519.1_Missense_Mutation_p.G238A|TRPV3_ENST00000576742.1_Missense_Mutation_p.G238A			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	238						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GACGTCGGCGCCGGCGGCGAT	0.716000													4	3					0	0	1	0	0
SLC22A11	55867	broad.mit.edu	37	11	64335178	64335178	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:64335178G>T	ENST00000301891.4	+	7	1540	c.1166G>T	c.(1165-1167)cGg>cTg	p.R389L	SLC22A11_ENST00000377585.3_Intron|SLC22A11_ENST00000377581.3_Missense_Mutation_p.R389L	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	389					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TTCCTGGGCCGGGCCACCACT	0.642000													13	36					7.03913e-09	8.87958e-09	1	1	0
AAK1	22848	broad.mit.edu	37	2	69784100	69784100	+	Silent	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:69784100A>T	ENST00000409085.4	-	3	550	c.174T>A	c.(172-174)gcT>gcA	p.A58A	AAK1_ENST00000406297.3_Silent_p.A58A|AAK1_ENST00000409068.1_Silent_p.A58A	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	58	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GAAATACAATAGCAAATCCAC	0.448000													6	21					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57372298	57372298	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:57372298G>T	ENST00000607273.1	+	8	791	c.704G>T	c.(703-705)aGg>aTg	p.R235M	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	235					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTAACAGCCAGGTCCTTGCCT	0.418000													7	53					2.7689e-08	3.45183e-08	1	1	0
CD244	51744	broad.mit.edu	37	1	160808277	160808277	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:160808277G>C	ENST00000368034.4	-	5	975	c.798C>G	c.(796-798)taC>taG	p.Y266*	CD244_ENST00000368033.3_Nonsense_Mutation_p.Y271*|CD244_ENST00000322302.7_Nonsense_Mutation_p.Y174*|CD244_ENST00000481677.1_5'UTR|CD244_ENST00000368032.2_Nonsense_Mutation_p.Y266*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	271					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGACATCTTCGTAAATTGTCA	0.468000													11	95					0	0	1	0	0
KRT20	54474	broad.mit.edu	37	17	39034459	39034459	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:39034459T>C	ENST00000167588.3	-	6	1118	c.1077A>G	c.(1075-1077)atA>atG	p.I359M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	359	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCGAGTCTTTATGTCAAGAA	0.463000													82	109					0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52163108	52163108	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:52163108G>A	ENST00000354534.5	+	17	3539	c.3361G>A	c.(3361-3363)Ggc>Agc	p.G1121S	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1121S	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1121					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGATCCTGAAGGCAGCAAAGA	0.527000													10	28					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27465740	27465740	+	Splice_Site	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:27465740G>T	ENST00000264705.4	+	42	6541	c.6378_splice	c.e42-1	p.E2127_splice	CAD_ENST00000403525.1_Splice_Site_p.E2064_splice	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	2127	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CACCCTCCAGGAGGAATTCGA	0.582000													13	18					0.00136819	0.00146269	1	1	0
SH3GL3	6457	broad.mit.edu	37	15	84237416	84237416	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:84237416C>A	ENST00000324537.5	+	7	839	c.347C>A	c.(346-348)tCc>tAc	p.S116Y	SH3GL3_ENST00000434347.1_Missense_Mutation_p.S116Y|SH3GL3_ENST00000427482.2_Missense_Mutation_p.S108Y|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S108Y			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	108	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						GGGGAAGACTCCACCTTTGGT	0.512000													36	19					6.90743e-12	9.32283e-12	1	1	0
ATR	545	broad.mit.edu	37	3	142281470	142281470	+	Silent	SNP	A	A	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:142281470A>C	ENST00000350721.4	-	4	895	c.774T>G	c.(772-774)ctT>ctG	p.L258L	ATR_ENST00000383101.3_Silent_p.L258L	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	258					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GTAGTCCTCCAAGCTGAAAAA	0.363000								Other conserved DNA damage response genes					10	70					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181221	140181221	+	Nonsense_Mutation	SNP	C	C	T	rs139627437		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140181221C>T	ENST00000522353.2	+	1	439	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Nonsense_Mutation_p.Q147*|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAATCCCGACAGCCTGGCTC	0.448000													16	78					0	0	1	0	0
KRT73	319101	broad.mit.edu	37	12	53010074	53010074	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:53010074C>T	ENST00000305748.3	-	2	572	c.538G>A	c.(538-540)Gag>Aag	p.E180K		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	180	Linker 1.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGGATGGGCTCCAGGTTATTC	0.607000													46	80					0	0	1	0	0
CTPS1	1503	broad.mit.edu	37	1	41450645	41450645	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:41450645T>A	ENST00000372621.4	+	3	827	c.319T>A	c.(319-321)Ttg>Atg	p.L107M	CTPS1_ENST00000543104.1_Missense_Mutation_p.L114M|CTPS1_ENST00000541520.1_Intron|CTPS1_ENST00000372616.1_Missense_Mutation_p.L107M	NM_001905.2	NP_001896.2	P17812	PYRG1_HUMAN	CTP synthase 1	107					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	AGGAGATTACTTGGGGAAAAC	0.408000													37	54					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109692000	109692000	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:109692000A>T	ENST00000277225.5	+	3	6096	c.5807A>T	c.(5806-5808)aAa>aTa	p.K1936I	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.K1936I|ZNF462_ENST00000441147.2_Missense_Mutation_p.K781I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1936				K -> E (in Ref. 4; AK027866).	transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGCAAGCAGAAATATGCAGAT	0.483000													33	26					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20156408	20156408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:20156408C>T	ENST00000263754.4	+	7	1533	c.1078C>T	c.(1078-1080)Caa>Taa	p.Q360*		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	360					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						AGTATATAGTCAAAACTCTCC	0.378000													31	10					0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68720479	68720479	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:68720479C>A	ENST00000303145.7	-	3	542	c.456G>T	c.(454-456)ctG>ctT	p.L152L	MDM1_ENST00000430606.2_Silent_p.L152L|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000411698.2_Silent_p.L152L|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000545724.1_5'UTR	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	152						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TAGAATGTTCCAGTTCCACAT	0.393000													40	35					1.04594e-18	1.59412e-18	1	1	0
PAX3	5077	broad.mit.edu	37	2	223066886	223066886	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:223066886G>T	ENST00000350526.4	-	8	1333	c.1197C>A	c.(1195-1197)caC>caA	p.H399Q	PAX3_ENST00000409551.3_Missense_Mutation_p.H398Q|PAX3_ENST00000392069.2_Missense_Mutation_p.H399Q|PAX3_ENST00000392070.2_Missense_Mutation_p.H399Q|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000336840.6_Intron|PAX3_ENST00000344493.4_Intron	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	399					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTACCCCACCGTGGTTGGTCA	0.537000			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						6	4					3.59834e-05	4.06317e-05	1	1	0
CD5L	922	broad.mit.edu	37	1	157803200	157803200	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:157803200C>T	ENST00000368174.4	-	5	917	c.821G>A	c.(820-822)gGa>gAa	p.G274E		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	274	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCCTTTTCTCCCCAGTTGTC	0.582000													18	119					0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28155640	28155640	+	Silent	SNP	A	A	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:28155640A>G	ENST00000316334.3	-	2	330	c.201T>C	c.(199-201)caT>caC	p.H67H		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	67							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGCAGAATGTATGTCCACAGG	0.413000													49	20					0	0	1	0	0
RTN4RL1	146760	broad.mit.edu	37	17	1840534	1840534	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:1840534C>A	ENST00000331238.5	-	2	600	c.582G>T	c.(580-582)cgG>cgT	p.R194R		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1	194					axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCACCAGGCCCCGGAAGGTGC	0.622000													20	7					2.39187e-15	3.43943e-15	1	1	0
PIDD	55367	broad.mit.edu	37	11	800236	800236	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:800236G>T	ENST00000347755.5	-	14	2310	c.2169C>A	c.(2167-2169)ttC>ttA	p.F723L	PIDD_ENST00000411829.2_Missense_Mutation_p.F706L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2	Q9HB75	PIDD_HUMAN	p53-induced death domain protein	723					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										CGCCACGGTAGAAGGACACCT	0.697000													4	26					0.00909568	0.00946511	1	1	0
CACNA1C	775	broad.mit.edu	37	12	2224442	2224442	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:2224442G>T	ENST00000399655.1	+	2	367	c.102G>T	c.(100-102)gcG>gcT	p.A34A	CACNA1C_ENST00000399641.1_Silent_p.A34A|CACNA1C_ENST00000399621.1_Silent_p.A34A|CACNA1C_ENST00000399597.1_Silent_p.A34A|CACNA1C_ENST00000399591.1_Silent_p.A34A|CACNA1C_ENST00000402845.3_Silent_p.A34A|CACNA1C_ENST00000406454.3_Silent_p.A34A|CACNA1C_ENST00000399638.1_Silent_p.A34A|CACNA1C_ENST00000399637.1_Silent_p.A34A|CACNA1C_ENST00000335762.5_Silent_p.A34A|CACNA1C_ENST00000399617.1_Silent_p.A34A|CACNA1C_ENST00000347598.4_Silent_p.A34A|CACNA1C_ENST00000399649.1_Silent_p.A34A|CACNA1C_ENST00000480911.1_Silent_p.A34A|CACNA1C_ENST00000399603.1_Silent_p.A34A|CACNA1C_ENST00000399634.1_Silent_p.A34A|CACNA1C_ENST00000399644.1_Silent_p.A34A|CACNA1C_ENST00000399601.1_Silent_p.A34A|CACNA1C_ENST00000327702.7_Silent_p.A34A|CACNA1C_ENST00000399595.1_Silent_p.A34A|CACNA1C_ENST00000399629.1_Silent_p.A34A|CACNA1C_ENST00000399606.1_Silent_p.A34A|CACNA1C_ENST00000344100.3_Silent_p.A34A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	34					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATGCCAATGCGGCAGCGGGGC	0.622000													7	0					0.00198382	0.0021102	1	1	0
ABCC8	6833	broad.mit.edu	37	11	17483152	17483152	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:17483152C>T	ENST00000302539.4	-	5	925	c.800G>A	c.(799-801)tGc>tAc	p.C267Y	ABCC8_ENST00000389817.3_Missense_Mutation_p.C267Y	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	267					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AAAGGCCTCGCAGAGCCGTTG	0.582000													36	49					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405825	106405825	+	RNA	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:106405825G>T	ENST00000390593.2	-	0	200																											ACTGTTGCTAGAGACACTGTC	0.557000													29	96					7.38237e-10	9.52274e-10	1	1	0
DYSF	8291	broad.mit.edu	37	2	71886041	71886041	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:71886041C>A	ENST00000258104.3	+	43	4949	c.4672C>A	c.(4672-4674)Cca>Aca	p.P1558T	DYSF_ENST00000410041.1_Missense_Mutation_p.P1576T|DYSF_ENST00000394120.2_Missense_Mutation_p.P1559T|DYSF_ENST00000429174.2_Missense_Mutation_p.P1579T|DYSF_ENST00000410020.3_Missense_Mutation_p.P1597T|DYSF_ENST00000413539.2_Missense_Mutation_p.P1589T|DYSF_ENST00000409744.1_Missense_Mutation_p.P1566T|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.P1590T|DYSF_ENST00000409366.1_Missense_Mutation_p.P1580T|DYSF_ENST00000409582.3_Missense_Mutation_p.P1596T|DYSF_ENST00000409762.1_Missense_Mutation_p.P1575T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1558						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAGAAGACCCAGCCATCCC	0.512000													42	65					3.66854e-30	6.38344e-30	1	1	0
GALR1	2587	broad.mit.edu	37	18	74962540	74962540	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:74962540C>T	ENST00000299727.3	+	1	36	c.36C>T	c.(34-36)aaC>aaT	p.N12N		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	12					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)		GCGAGGGCAACGCGAGCTGGC	0.756000													3	1					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27291057	27291057	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:27291057C>T	ENST00000397501.1	+	16	1901	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	PTK2B_ENST00000420218.2_Missense_Mutation_p.H365Y|PTK2B_ENST00000346049.5_Missense_Mutation_p.H365Y|PTK2B_ENST00000338238.4_Missense_Mutation_p.H365Y|PTK2B_ENST00000544172.1_Missense_Mutation_p.H365Y|PTK2B_ENST00000397497.4_Missense_Mutation_p.H111Y|PTK2B_ENST00000517339.1_Missense_Mutation_p.H365Y	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	365					apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCTCATCATCCATCCTAGGAA	0.567000													4	22					0	0	1	0	0
NFIB	4781	broad.mit.edu	37	9	14307214	14307214	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:14307214C>A	ENST00000380959.3	-	2	809	c.336G>T	c.(334-336)aaG>aaT	p.K112N	NFIB_ENST00000397575.3_Missense_Mutation_p.K112N|NFIB_ENST00000397581.2_Missense_Mutation_p.K112N|NFIB_ENST00000380934.4_Missense_Mutation_p.K138N|NFIB_ENST00000397579.2_Missense_Mutation_p.K112N|NFIB_ENST00000380921.3_Missense_Mutation_p.K112N|NFIB_ENST00000380953.1_Missense_Mutation_p.K112N	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	112					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TAATCTTACCCTTCTGGTCGG	0.512000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								8	69					0.00307968	0.00325723	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092564	30092564	+	RNA	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr18:30092564C>T	ENST00000567636.1	+	0	939					NR_003558.1																						GTTTTTAGCACCAGTGAAGAT	0.488000													87	56					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567652	73567652	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:73567652C>A	ENST00000224721.6	+	59	8630	c.8625C>A	c.(8623-8625)gcC>gcA	p.A2875A	CDH23_ENST00000398788.3_Silent_p.A630A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2870	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AGGTGCTGGCCCTGGATGCAG	0.612000													9	8					4.68919e-08	5.78268e-08	1	1	0
YARS	8565	broad.mit.edu	37	1	33276518	33276518	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:33276518C>T	ENST00000373477.4	-	2	1106	c.198G>A	c.(196-198)ggG>ggA	p.G66G		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	66					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	TTACCTCACACCCTGCCTTTA	0.502000													45	244					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55035827	55035827	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:55035827C>A	ENST00000417545.2	+	4	643	c.555_splice	c.e4-1	p.A186_splice		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	170						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTTTACAGGCTTTTGGAGAC	0.343000													15	51					7.93312e-07	9.41583e-07	1	1	0
PLA2R1	22925	broad.mit.edu	37	2	160901606	160901606	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:160901606C>A	ENST00000283243.7	-	2	378	c.172G>T	c.(172-174)Gtt>Ttt	p.V58F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.V58F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	58	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						AGGGTCAGAACCGATTTACCT	0.413000													21	38					2.4624e-09	3.14088e-09	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96592221	96592221	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:96592221T>A	ENST00000376747.3	-	16	1872	c.1802A>T	c.(1801-1803)gAa>gTa	p.E601V		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	601					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CTTTCTTTCTTCATCATATTT	0.343000													18	11					0	0	1	0	0
SERPINA6	866	broad.mit.edu	37	14	94772555	94772555	+	Splice_Site	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:94772555G>C	ENST00000341584.3	-	4	1031	c.884_splice	c.e4-1	p.S295_splice		NM_001756.3	NP_001747.2	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	295					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGTCCACCTGGCTGCTCGGGG	0.552000													5	70					0	0	1	0	0
PLA2G1B	5319	broad.mit.edu	37	12	120760004	120760004	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:120760004G>T	ENST00000308366.4	-	4	474	c.439C>A	c.(439-441)Cag>Aag	p.Q147K	PLA2G1B_ENST00000423423.3_3'UTR|PLA2G1B_ENST00000549767.1_Missense_Mutation_p.Q118K	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	147					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATTCAACTCTGACAATACTTC	0.443000													123	148					1.14919e-56	2.16439e-56	1	1	0
SLAMF1	6504	broad.mit.edu	37	1	160604558	160604558	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:160604558G>T	ENST00000302035.6	-	3	894	c.545C>A	c.(544-546)aCc>aAc	p.T182N	SLAMF1_ENST00000355199.3_Missense_Mutation_p.T182N|SLAMF1_ENST00000235739.5_Missense_Mutation_p.T182N|SLAMF1_ENST00000538290.1_Missense_Mutation_p.T182N	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	182	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAGTGGGTGGGTGCCCGCCTT	0.582000													32	65					4.4194e-11	5.85837e-11	1	1	0
GJA8	2703	broad.mit.edu	37	1	147380931	147380931	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:147380931G>T	ENST00000240986.4	+	2	902	c.849G>T	c.(847-849)gaG>gaT	p.E283D	GJA8_ENST00000369235.1_Missense_Mutation_p.E283D	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	283					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCTTGACCGAGGTTGGGATGG	0.552000													35	53					7.11191e-15	1.01326e-14	1	1	0
PGAM4	441531	broad.mit.edu	37	X	77224683	77224683	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:77224683G>T	ENST00000458128.1	-	1	452	c.453C>A	c.(451-453)ccC>ccA	p.P151P	ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	151					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						TCTCATAGGAGGGTAGCTGAT	0.507000													37	14					1.60099e-16	2.35318e-16	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185803418	185803418	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:185803418C>A	ENST00000302277.6	+	4	3889	c.3295C>A	c.(3295-3297)Cat>Aat	p.H1099N		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1099						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AACCACTATCCATCACACTGT	0.532000													55	65					4.17463e-26	7.0096e-26	1	1	0
ZNF70	7621	broad.mit.edu	37	22	24086000	24086000	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:24086000C>A	ENST00000341976.3	-	2	1788	c.1328G>T	c.(1327-1329)gGg>gTg	p.G443V		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TAGCTTCTCCCCAGAATGAAT	0.537000													19	172					3.99206e-14	5.60699e-14	1	1	0
NKX3-1	4824	broad.mit.edu	37	8	23538998	23538998	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:23538998C>A	ENST00000380871.4	-	2	478	c.441G>T	c.(439-441)aaG>aaT	p.K147N	NKX3-1_ENST00000523261.1_Missense_Mutation_p.K72N	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	147					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		CCGACAGGTACTTCTGATGGC	0.567000													38	101					2.09667e-21	3.32513e-21	1	1	0
OR2F1	26211	broad.mit.edu	37	7	143657821	143657821	+	Missense_Mutation	SNP	G	G	T	rs143396389		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:143657821G>T	ENST00000392899.1	+	1	795	c.758G>T	c.(757-759)gGt>gTt	p.G253V		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					CTGTGCTATGGTGTGGCCATT	0.483000													54	59					6.3008e-33	1.1173e-32	1	1	0
PCDHA10	56139	broad.mit.edu	37	5	140237120	140237120	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140237120G>A	ENST00000307360.5	+	1	1487	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R496Q|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGAGCGGCGGTTGGGC	0.672000													13	92					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33649049	33649049	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:33649049C>A	ENST00000504830.1	-	9	1692	c.1357G>T	c.(1357-1359)Gat>Tat	p.D453Y	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.D453Y	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	453	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGTATGTCATCAAGACAGAAC	0.453000										HNSCC(64;0.19)			36	50					3.33393e-15	4.77286e-15	1	1	0
PEX5L	51555	broad.mit.edu	37	3	179592153	179592153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:179592153C>A	ENST00000467460.1	-	7	1018	c.688G>T	c.(688-690)Gag>Tag	p.E230*	PEX5L_ENST00000485199.1_Nonsense_Mutation_p.E195*|PEX5L_ENST00000476138.1_Nonsense_Mutation_p.E187*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.E171*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.E38*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.E206*|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.E122*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.E122*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.E228*	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	230					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GAAGCCGACTCAGAGTTGAGG	0.403000													29	29					1.08312e-15	1.56568e-15	1	1	0
C10orf2	56652	broad.mit.edu	37	10	102750198	102750198	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:102750198T>A	ENST00000370228.1	+	3	1675	c.1490T>A	c.(1489-1491)gTa>gAa	p.V497E	C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Missense_Mutation_p.V497E	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	497	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCAGGACTGTAATAGATACA	0.478000													43	66					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920140	183920140	+	Splice_Site	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:183920140C>A	ENST00000361927.4	-	8	1508		c.e8+1		COLGALT2_ENST00000546159.1_Splice_Site|COLGALT2_ENST00000367520.3_Splice_Site	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		ACCCAACTCACTTTCCATCCA	0.507000													72	110					9.12251e-31	1.59296e-30	1	1	0
DAAM1	23002	broad.mit.edu	37	14	59797978	59797978	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:59797978G>T	ENST00000395125.1	+	13	1635	c.1612G>T	c.(1612-1614)Ggg>Tgg	p.G538W	DAAM1_ENST00000360909.3_Missense_Mutation_p.G538W|DAAM1_ENST00000351081.1_Missense_Mutation_p.G538W	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	538	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		AGCACCAGGAGGGCCCTTTCC	0.567000													18	127					8.34094e-07	9.88408e-07	1	1	0
A2M	2	broad.mit.edu	37	12	9231860	9231860	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:9231860G>T	ENST00000318602.7	-	25	3406	c.3099C>A	c.(3097-3099)ggC>ggA	p.G1033G	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005.2	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1033					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTGGTTCCTGCCATATCGCT	0.423000													25	10					9.86323e-18	1.47601e-17	1	1	0
ARHGEF37	389337	broad.mit.edu	37	5	148989227	148989227	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:148989227C>A	ENST00000333677.6	+	4	590	c.427C>A	c.(427-429)Cgg>Agg	p.R143R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	143	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						GGAGCTGCAGCGGCACATCCA	0.587000													45	12					1.30916e-28	2.24644e-28	1	1	0
MYO19	80179	broad.mit.edu	37	17	34862945	34862945	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:34862945G>A	ENST00000431794.3	-	17	2023	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	501	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GTCTGGAGCTGGGCTGCGCTG	0.622000													16	29					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59834551	59834551	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:59834551C>A	ENST00000278865.3	+	5	552	c.479C>A	c.(478-480)cCg>cAg	p.P160Q	MS4A3_ENST00000534744.1_Missense_Mutation_p.P114Q|MS4A3_ENST00000358152.2_Missense_Mutation_p.P114Q|MS4A3_ENST00000395032.2_Missense_Mutation_p.P37Q	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	160						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.P160L(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TCAGAGTCACCGGACCTATGC	0.358000													6	14					0.0293803	0.030214	1	1	0
RTCB	51493	broad.mit.edu	37	22	32792121	32792121	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr22:32792121C>A	ENST00000216038.5	-	8	1028	c.930G>T	c.(928-930)atG>atT	p.M310I	RTCB_ENST00000451746.2_Intron	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CAGCAGCTGCCATTCCCTTCA	0.498000													115	50					2.85792e-54	5.36898e-54	1	1	0
FLG	2312	broad.mit.edu	37	1	152278994	152278994	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152278994G>T	ENST00000368799.1	-	3	8403	c.8368C>A	c.(8368-8370)Ccg>Acg	p.P2790T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2790	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACCCCGGGTGTCCACGA	0.602000									Ichthyosis				128	463					1.03292e-53	1.93803e-53	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	71130416	71130416	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:71130416C>A	ENST00000333538.5	+	7	1735	c.1101C>A	c.(1099-1101)agC>agA	p.S367R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	367	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GTGGGGGCAGCATGGAGGTCC	0.517000													54	23					7.89702e-26	1.32151e-25	1	1	0
C3orf72	401089	broad.mit.edu	37	3	138669285	138669285	+	Silent	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:138669285G>C	ENST00000383165.3	+	3	530	c.399G>C	c.(397-399)gcG>gcC	p.A133A		NM_001040061.2	NP_001035150.1	Q6ZUU3	CC072_HUMAN	chromosome 3 open reading frame 72	133										large_intestine(1)|lung(3)	4						CTTTCCTAGCGGGACCCCGAA	0.667000													17	38					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36227600	36227600	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:36227600C>T	ENST00000420124.1	+	31	7169	c.7169C>T	c.(7168-7170)tCg>tTg	p.S2390L	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.S2390L														p.S2392L(1)									GGTGAGGCTTCGAGCTCTGAG	0.587000													7	35					0	0	1	0	0
MFAP3L	9848	broad.mit.edu	37	4	170912915	170912915	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:170912915C>T	ENST00000361618.3	-	3	1151	c.844G>A	c.(844-846)Gac>Aac	p.D282N	MFAP3L_ENST00000393704.3_Missense_Mutation_p.D179N|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	282						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		TCATCCCTGTCTGCGGCCTCC	0.582000													26	47					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37342741	37342741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:37342741C>A	ENST00000231498.3	-	10	1206	c.1003G>T	c.(1003-1005)Gat>Tat	p.D335Y	NUP155_ENST00000513532.1_Missense_Mutation_p.D335Y|NUP155_ENST00000381843.2_Missense_Mutation_p.D276Y	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	335					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACAGAACGATCGATGGTCCTA	0.318000													23	31					1.10513e-12	1.51218e-12	1	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69093777	69093777	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr4:69093777C>A	ENST00000332644.5	-	10	1264	c.1103G>T	c.(1102-1104)gGa>gTa	p.G368V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	368	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGCTAGTGGTCCACCAGAATC	0.393000													6	13					0.0215528	0.022195	1	1	0
ZNF536	9745	broad.mit.edu	37	19	31038993	31038993	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:31038993G>A	ENST00000355537.3	+	4	2614	c.2467G>A	c.(2467-2469)Gat>Aat	p.D823N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGACCACAAGGATGAGATGTC	0.567000													73	76					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086668	56086668	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:56086668G>T	ENST00000312711.1	+	1	886	c.886G>T	c.(886-888)Gta>Tta	p.V296L		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AAACAAAGATGTAAAATATGC	0.328000													15	19					6.31663e-08	7.76386e-08	1	1	0
WBP2	23558	broad.mit.edu	37	17	73851356	73851356	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:73851356G>A	ENST00000591399.1	-	2	447	c.23C>T	c.(22-24)tCg>tTg	p.S8L	WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000433525.2_Missense_Mutation_p.S8L|WBP2_ENST00000590221.1_Missense_Mutation_p.S8L|WBP2_ENST00000344296.4_5'UTR|WBP2_ENST00000585462.1_5'UTR|WBP2_ENST00000254806.3_Missense_Mutation_p.S8L			Q969T9	WBP2_HUMAN	WW domain binding protein 2	8	GRAM.						protein binding	p.S8*(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGCCCTCCGAGTGATTCTT	0.592000													50	148					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573529	38573529	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:38573529G>A	ENST00000222345.6	+	3	1833	c.1324G>A	c.(1324-1326)Gtg>Atg	p.V442M		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	442					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGAGCGCAACGTGAGCTTCTC	0.672000													38	67					0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384237	2384237	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr20:2384237G>T	ENST00000202625.2	+	9	1165	c.1104G>T	c.(1102-1104)cgG>cgT	p.R368R	TGM6_ENST00000381423.1_Silent_p.R368R	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	368					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GTGTGTTCCGGTGCGGCCCAG	0.612000													39	41					1.22674e-20	1.927e-20	1	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121652131	121652131	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:121652131G>T	ENST00000393386.2	+	12	3442	c.3031G>T	c.(3031-3033)Gat>Tat	p.D1011Y	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1011					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACCTGACACAGATGGGCTGAC	0.433000													73	69					4.38816e-42	8.05039e-42	1	1	0
C12orf42	374470	broad.mit.edu	37	12	103699818	103699818	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr12:103699818C>A	ENST00000548048.1	-	8	860	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C	C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.G189C|C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000548883.1_Missense_Mutation_p.G189C			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	189										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						ATGTGTATGCCCTGAGCCTCC	0.468000													74	72					1.94393e-27	3.30136e-27	1	1	0
SCARF1	8578	broad.mit.edu	37	17	1548987	1548987	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:1548987C>A	ENST00000263071.4	-	1	54	c.5G>T	c.(4-6)gGg>gTg	p.G2V	SCARF1_ENST00000571272.1_Missense_Mutation_p.G2V|SCARF1_ENST00000348987.3_Missense_Mutation_p.G2V	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	2					cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGCCCCAGCCCCATGGCAGG	0.682000													5	1					0.014758	0.0152718	1	1	0
BCORL1	63035	broad.mit.edu	37	X	129149296	129149296	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:129149296G>C	ENST00000540052.1	+	3	2592	c.2548G>C	c.(2548-2550)Ggg>Cgg	p.G850R	BCORL1_ENST00000359304.2_Missense_Mutation_p.G850R|BCORL1_ENST00000303743.5_Missense_Mutation_p.G850R|BCORL1_ENST00000218147.7_Missense_Mutation_p.G850R	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	850					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TTCCAGTGCCGGGCAGCTGAC	0.617000													50	13					0	0	1	0	0
MS4A3	932	broad.mit.edu	37	11	59834552	59834552	+	Silent	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:59834552G>A	ENST00000278865.3	+	5	553	c.480G>A	c.(478-480)ccG>ccA	p.P160P	MS4A3_ENST00000534744.1_Silent_p.P114P|MS4A3_ENST00000358152.2_Silent_p.P114P|MS4A3_ENST00000395032.2_Silent_p.P37P	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	160						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGAGTCACCGGACCTATGCA	0.353000													6	14					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021734	120021734	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:120021734G>C	ENST00000379551.2	+	3	533	c.176G>C	c.(175-177)aGt>aCt	p.S59T	PRR16_ENST00000407149.2_Missense_Mutation_p.S82T|PRR16_ENST00000505123.1_Missense_Mutation_p.S12T|PRR16_ENST00000446965.1_Missense_Mutation_p.S12T	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	82										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		ACGCTGAATAGTAGCTCAAGT	0.522000													39	50					0	0	1	0	0
POU3F3	5455	broad.mit.edu	37	2	105473124	105473124	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:105473124G>T	ENST00000361360.2	+	1	1156	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	386	POU-specific.				metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTGGCTGGAGGAGGCGGACTC	0.617000													14	20					2.62699e-14	3.71075e-14	1	1	0
OR10G4	390264	broad.mit.edu	37	11	123886335	123886335	+	Silent	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:123886335C>A	ENST00000320891.4	+	1	54	c.54C>A	c.(52-54)gcC>gcA	p.A18A		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCCCATGCCCCAGGGCTGG	0.567000													31	25					1.4709e-25	2.4504e-25	1	1	0
GOLIM4	27333	broad.mit.edu	37	3	167754688	167754688	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:167754688T>A	ENST00000470487.1	-	8	1468	c.779A>T	c.(778-780)cAg>cTg	p.Q260L	GOLIM4_ENST00000309027.4_Missense_Mutation_p.Q232L	NM_014498.3	NP_055313.1	O00461	GOLI4_HUMAN	golgi integral membrane protein 4	260					transport	cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ATGTGCCACCTGGGTCACATT	0.468000													54	98					0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649958	102649958	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:102649958G>A	ENST00000279441.4	-	3	518	c.482C>T	c.(481-483)tCt>tTt	p.S161F		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	161					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AACTGCAAAAGAGATCATTAT	0.393000													27	96					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823227	47823227	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:47823227G>T	ENST00000355085.3	+	2	215	c.193G>T	c.(193-195)Gag>Tag	p.E65*		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	65					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		GACGGCATTCGAGGCCAAGCG	0.587000													67	18					2.89935e-36	5.19715e-36	1	1	0
ADRA2B	151	broad.mit.edu	37	2	96780812	96780812	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:96780812C>A	ENST00000409345.3	-	1	1172	c.1077G>T	c.(1075-1077)caG>caT	p.Q359H		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	362					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CCCGGGTCAGCTGCGCCCGTC	0.652000													7	22					1.06961e-07	1.30819e-07	1	1	0
TTN	7273	broad.mit.edu	37	2	179593083	179593083	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:179593083T>C	ENST00000589042.1	-	67	19692	c.19468A>G	c.(19468-19470)Atg>Gtg	p.M6490V	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5246V|TTN_ENST00000591111.1_Missense_Mutation_p.M6173V|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6173	Ig-like 46.						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)			ACTTTATCCATTTTGGTTAAT	0.363000													17	15					0	0	1	0	0
TRIM46	80128	broad.mit.edu	37	1	155148068	155148068	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:155148068C>T	ENST00000392451.2	+	2	353	c.270C>T	c.(268-270)cgC>cgT	p.R90R	TRIM46_ENST00000334634.4_Silent_p.R90R|TRIM46_ENST00000543729.1_Silent_p.R97R|TRIM46_ENST00000368383.3_Silent_p.R90R|TRIM46_ENST00000368382.1_Silent_p.R67R|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Intron|TRIM46_ENST00000368385.4_Silent_p.R90R			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	90						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCAGCCCCCGCCTCTCCCGCA	0.667000													16	79					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18662029	18662029	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr9:18662029A>T	ENST00000380548.4	+	9	1382	c.1043A>T	c.(1042-1044)aAa>aTa	p.K348I	ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.K348I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.K348I|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.K348I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	348						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATCAAACCCAAACCCAAGCTT	0.448000													13	79					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38974004	38974004	+	Silent	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:38974004G>T	ENST00000355481.4	+	33	4913	c.4782G>T	c.(4780-4782)ctG>ctT	p.L1594L	RYR1_ENST00000360985.3_Silent_p.L1594L|RYR1_ENST00000359596.3_Silent_p.L1594L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1594	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACCGCGGCTGGAGATGCAGA	0.657000													3	8					0.115264	0.117317	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25427729	25427729	+	RNA	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:25427729C>A	ENST00000424208.1	+	0	272					NR_003305.1																						GTGCCCAACCCTGTCTCTGCG	0.607000													28	9					6.32553e-13	8.71153e-13	1	1	0
ARC	23237	broad.mit.edu	37	8	143695349	143695349	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr8:143695349A>T	ENST00000356613.2	-	1	1484	c.284T>A	c.(283-285)cTg>cAg	p.L95Q		NM_015193.3	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	95	Binds SH3GL1 or SH3GL3 (By similarity).				endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GCAGCGGCACAGGCAGGCCTT	0.672000													12	6					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140580339	140580339	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:140580339C>A	ENST00000354757.3	+	1	992	c.992C>A	c.(991-993)tCt>tAt	p.S331Y	PCDHB11_ENST00000536699.1_5'UTR	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		331	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGGAAAATCTACAGTCATA	0.398000													53	25					4.25531e-23	6.92595e-23	1	1	0
SND1	27044	broad.mit.edu	37	7	127727085	127727085	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:127727085C>A	ENST00000354725.3	+	21	2594	c.2400C>A	c.(2398-2400)ttC>ttA	p.F800L		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	800					gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTTCGCCTTCATCCAGGTGC	0.597000													36	36					1.36161e-19	2.1011e-19	1	1	0
LRRC16B	90668	broad.mit.edu	37	14	24527233	24527233	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:24527233G>T	ENST00000342740.5	+	16	1436	c.1282G>T	c.(1282-1284)Gtc>Ttc	p.V428F	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	428										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ACTGAGCCACGTCAATCTGTC	0.667000											OREG0022615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	58	59					1.03172e-35	1.84716e-35	1	1	0
KMO	8564	broad.mit.edu	37	1	241753361	241753361	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:241753361G>A	ENST00000366559.4	+	13	1457	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	KMO_ENST00000366558.3_Missense_Mutation_p.M369I|KMO_ENST00000366557.4_Intron	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	382					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AGAAGAACATGGAGAGATTTC	0.378000													21	72					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060127	16060127	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:16060127T>A	ENST00000322107.1	+	1	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCAGATGTTCTTCTCCTTCAT	0.507000													246	58					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99779761	99779761	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:99779761C>A	ENST00000426455.1	+	3	572	c.165C>A	c.(163-165)agC>agA	p.S55R	STAG3_ENST00000317296.5_Missense_Mutation_p.S55R|STAG3_ENST00000394018.2_Missense_Mutation_p.S55R			Q9UJ98	STAG3_HUMAN	stromal antigen 3	55					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTGAAGACAGCTTGAATCGCA	0.428000													4	35					0.184627	0.18613	1	1	0
DACH2	117154	broad.mit.edu	37	X	86069728	86069728	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:86069728C>T	ENST00000373131.1	+	9	1699	c.1536C>T	c.(1534-1536)acC>acT	p.T512T	DACH2_ENST00000510272.1_Silent_p.T306T|DACH2_ENST00000508860.1_Silent_p.T358T|DACH2_ENST00000373125.4_Silent_p.T525T|DACH2_ENST00000477378.2_Intron	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	525	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGAAAAAAACCAAGAGAAAAT	0.448000													22	7					0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79386511	79386511	+	Silent	SNP	C	C	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:79386511C>T	ENST00000393878.1	-	1	275	c.21G>A	c.(19-21)ctG>ctA	p.L7L	REG3A_ENST00000305165.2_Silent_p.L7L|AC011754.1_ENST00000415201.1_RNA|REG3A_ENST00000409839.3_Silent_p.L7L	NM_138938.2	NP_620355.1	Q06141	REG3A_HUMAN	regenerating islet-derived 3 alpha	7					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding	p.L7L(1)		breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						ATACACTGGGCAGGGCCATGG	0.532000													16	32					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577541	7577541	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:7577541T>A	ENST00000420246.2	-	7	872	c.740A>T	c.(739-741)aAc>aTc	p.N247I	TP53_ENST00000413465.2_Missense_Mutation_p.N247I|TP53_ENST00000359597.4_Missense_Mutation_p.N247I|TP53_ENST00000269305.4_Missense_Mutation_p.N247I|TP53_ENST00000445888.2_Missense_Mutation_p.N247I|TP53_ENST00000455263.2_Missense_Mutation_p.N247I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	247	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.N247S(7)|p.?(5)|p.N247T(4)|p.N247I(3)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.N247F(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.N247fs*98(1)|p.G245fs*16(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCCTCCGGTTCATGCCGCC	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			26	10					0	0	1	0	0
HFE2	148738	broad.mit.edu	37	1	145415492	145415493	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:145415492_145415493insT	ENST00000336751.5	+	3	549_550	c.311_312insT	c.(310-312)ctcfs	p.L104fs	HFE2_ENST00000357836.5_5'UTR|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	104					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTCGCCTTCCATTCGGCGGTAC	0.723													19	97	---	---	---	---					
FLG	2312	broad.mit.edu	37	1	152286930	152286931	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:152286930_152286931insG	ENST00000368799.1	-	3	466_467	c.431_432insC	c.(430-432)cagfs	p.Q144fs	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	144					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTTCTCTTGGGCTCTTGGA	0.356									Ichthyosis				42	163	---	---	---	---					
FCRL6	343413	broad.mit.edu	37	1	159776394	159776395	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:159776394_159776395insT	ENST00000321935.6	+	3	147_148	c.61_62insT	c.(61-63)tggfs	p.W21fs	FCRL6_ENST00000392235.3_Frame_Shift_Ins_p.W14fs|FCRL6_ENST00000368106.3_Frame_Shift_Ins_p.W14fs|FCRL6_ENST00000339348.5_Frame_Shift_Ins_p.W14fs			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	14	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					AGTTCCCTGTGTTGGGAAAACT	0.455													131	260	---	---	---	---					
PSEN2	5664	broad.mit.edu	37	1	227073315	227073335	+	In_Frame_Del	DEL	ATGATCAGCGTCATCGTGGTT	ATGATCAGCGTCATCGTGGTT	-	rs114334281	byFrequency	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr1:227073315_227073335delATGATCAGCGTCATCGTGGTT	ENST00000366782.1	+	6	1032_1052	c.532_552delATGATCAGCGTCATCGTGGTT	c.(532-552)del	p.MISVIVV178del	PSEN2_ENST00000340188.4_In_Frame_Del_p.MISVIVV145del|PSEN2_ENST00000366783.3_In_Frame_Del_p.MISVIVV145del|PSEN2_ENST00000472139.2_Start_Codon_Del|PSEN2_ENST00000391872.2_In_Frame_Del_p.MISVIVV178del|PSEN2_ENST00000422240.2_In_Frame_Del_p.MISVIVV145del			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	145					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	p.V150L(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				CACCCTCATCATGATCAGCGTCATCGTGGTTATGACCATCT	0.588													7	27	---	---	---	---					
ST3GAL5	8869	broad.mit.edu	37	2	86075204	86075204	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr2:86075204delC	ENST00000377332.3	-	4	550	c.442delG	c.(442-444)ccfs	p.A148fs	ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.A125fs|ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.A120fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	148					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TCTTTGGGGGCCTTCTGCACA	0.498													138	152	---	---	---	---					
MME	4311	broad.mit.edu	37	3	154861310	154861311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr3:154861310_154861311insT	ENST00000460393.1	+	13	1387_1388	c.1267_1268insT	c.(1267-1269)gggfs	p.G423fs	MME_ENST00000360490.2_Frame_Shift_Ins_p.G423fs|MME_ENST00000492661.1_Frame_Shift_Ins_p.G423fs|MME_ENST00000493237.1_Frame_Shift_Ins_p.G423fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.G423fs	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	423					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GGAAAATGCTGTGGGGAGGCTT	0.401													64	89	---	---	---	---					
ITGA2	3673	broad.mit.edu	37	5	52358631	52358631	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:52358631delG	ENST00000296585.5	+	13	1617	c.1474delG	c.(1474-1476)gtfs	p.G492fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	492					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CTCCTATTTTGGTAGTGTGCT	0.373													61	113	---	---	---	---					
DOCK2	1794	broad.mit.edu	37	5	169129342	169129342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr5:169129342delC	ENST00000256935.8	+	14	1374	c.1294delC	c.(1294-1296)aafs	p.Q432fs		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	432	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTCTCTTACAAGGTGACTT	0.493											OREG0017017	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	55	22	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883238	52883238	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:52883238delC	ENST00000356971.3	-	8	1042	c.553delG	c.(553-555)cgfs	p.A185fs	ICK_ENST00000350082.5_Frame_Shift_Del_p.A185fs	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	185	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CAGCCCACCGCCCAGACGTCA	0.517													71	68	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152476030	152476030	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr6:152476030delA	ENST00000367255.5	-	133	24727	c.24126delT	c.(24124-24126)ttfs	p.F8042fs	SYNE1_ENST00000265368.4_Frame_Shift_Del_p.F8042fs|SYNE1_ENST00000539504.1_Frame_Shift_Del_p.F197fs|SYNE1_ENST00000356820.4_Frame_Shift_Del_p.F2566fs|SYNE1_ENST00000341594.5_Frame_Shift_Del_p.F7654fs|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000423061.1_Frame_Shift_Del_p.F7971fs|SYNE1_ENST00000354674.4_Frame_Shift_Del_p.F197fs|SYNE1_ENST00000448038.1_Frame_Shift_Del_p.F7971fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8042					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGATTACCTCAAATTTCTTTA	0.393										HNSCC(10;0.0054)			27	82	---	---	---	---					
RELN	5649	broad.mit.edu	37	7	103205846	103205847	+	Frame_Shift_Ins	INS	-	-	A	rs114551393	by1000genomes	TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:103205846_103205847insA	ENST00000428762.1	-	34	5247_5248	c.5088_5089insT	c.(5086-5091)cttcacfs	p.H1697fs	RELN_ENST00000343529.5_Frame_Shift_Ins_p.H1697fs|RELN_ENST00000424685.2_Frame_Shift_Ins_p.H1697fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1697					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCGGTGACAAGATGCCAGT	0.470													25	35	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142625958	142625958	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:142625958delT	ENST00000265310.1	-	6	938	c.590delA	c.(589-591)acfs	p.N197fs	TRPV5_ENST00000442623.1_Frame_Shift_Del_p.N197fs	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	197					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAATACTGTGTTTCCTGGGGA	0.562													47	67	---	---	---	---					
PTPRN2	5799	broad.mit.edu	37	7	157414097	157414098	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr7:157414097_157414098insT	ENST00000389413.3	-	14	2316_2317	c.2213_2214insA	c.(2212-2214)agafs	p.R738fs	PTPRN2_ENST00000389418.4_Frame_Shift_Ins_p.R767fs|PTPRN2_ENST00000389416.4_Frame_Shift_Ins_p.R750fs|PTPRN2_ENST00000404321.2_Frame_Shift_Ins_p.R790fs|PTPRN2_ENST00000409483.1_Frame_Shift_Ins_p.R729fs	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	767						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTTCTCCTCCCTCTGGGCCAC	0.644													150	206	---	---	---	---					
MLLT10	8028	broad.mit.edu	37	10	21962662	21962662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr10:21962662delG	ENST00000377072.3	+	11	1783	c.1435delG	c.(1435-1437)gcfs	p.G479fs	MLLT10_ENST00000307729.7_Frame_Shift_Del_p.G479fs|MLLT10_ENST00000446906.2_Frame_Shift_Del_p.G479fs|MLLT10_ENST00000377059.3_Frame_Shift_Del_p.G479fs	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	479	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCATGGGCCTGGCAGACCCAA	0.413			T	"""MLL, PICALM, CDK6"""	AL								65	80	---	---	---	---					
OR56B4	196335	broad.mit.edu	37	11	6129103	6129103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:6129103delG	ENST00000316529.3	+	1	190	c.95delG	c.(94-96)tgfs	p.W32fs		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGCACTGGCTCTCCCTG	0.507													32	45	---	---	---	---					
PAX6	5080	broad.mit.edu	37	11	31815604	31815604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:31815604delT	ENST00000419022.1	-	10	1251	c.783delA	c.(781-783)atfs	p.I261fs	PAX6_ENST00000379111.2_Frame_Shift_Del_p.I247fs|PAX6_ENST00000241001.8_Frame_Shift_Del_p.I247fs|PAX6_ENST00000379129.2_Frame_Shift_Del_p.I261fs|PAX6_ENST00000379107.2_Frame_Shift_Del_p.I261fs|PAX6_ENST00000379115.4_Frame_Shift_Del_p.I261fs|PAX6_ENST00000379123.5_Frame_Shift_Del_p.I247fs|PAX6_ENST00000379132.3_Frame_Shift_Del_p.I247fs	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	247					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CAGGTAGATCTATTTTGGCTG	0.413									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				77	102	---	---	---	---					
DRD2	1813	broad.mit.edu	37	11	113283323	113283323	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:113283323delG	ENST00000362072.3	-	7	1437	c.1093delC	c.(1093-1095)agfs	p.Q366fs	DRD2_ENST00000544518.1_Frame_Shift_Del_p.Q365fs|DRD2_ENST00000542968.1_Frame_Shift_Del_p.Q366fs|DRD2_ENST00000346454.3_Frame_Shift_Del_p.Q337fs|DRD2_ENST00000355319.2_Frame_Shift_Del_p.Q368fs|DRD2_ENST00000538967.1_Frame_Shift_Del_p.Q368fs	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	366	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCCTTCTGCTGGGAGAGCTTC	0.567													13	33	---	---	---	---					
DRD2	1813	broad.mit.edu	37	11	113295193	113295193	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:113295193delG	ENST00000362072.3	-	2	525	c.181delC	c.(181-183)gcfs	p.R61fs	DRD2_ENST00000544518.1_Frame_Shift_Del_p.R61fs|DRD2_ENST00000542968.1_Frame_Shift_Del_p.R61fs|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000346454.3_Frame_Shift_Del_p.R61fs|DRD2_ENST00000355319.2_Frame_Shift_Del_p.R61fs|DRD2_ENST00000538967.1_Frame_Shift_Del_p.R61fs	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	61					activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	GCCTTCTCGCGGGACACAGCC	0.607													14	28	---	---	---	---					
HSPA8	3312	broad.mit.edu	37	11	122928528	122928529	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr11:122928528_122928529insT	ENST00000534624.1	-	9	2130_2131	c.1854_1855insA	c.(1852-1857)ccgaggfs	p.R619fs	HSPA8_ENST00000453788.2_Frame_Shift_Ins_p.R466fs|HSPA8_ENST00000533540.1_Frame_Shift_Ins_p.R473fs|HSPA8_ENST00000227378.3_Frame_Shift_Ins_p.R619fs|HSPA8_ENST00000534319.1_Frame_Shift_Ins_p.R383fs|HSPA8_ENST00000532636.1_Frame_Shift_Ins_p.R619fs|HSPA8_ENST00000526110.1_Frame_Shift_Ins_p.R600fs	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	619					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGCATTCCTCCTGGCATGCCTC	0.520													51	61	---	---	---	---					
TEX26	122046	broad.mit.edu	37	13	31540398	31540398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:31540398delG	ENST00000380473.3	+	5	522	c.509delG	c.(508-510)tgfs	p.W170fs	TEX26_ENST00000530916.1_Intron	NM_152325.1	NP_689538.1	Q8N6G2	CM026_HUMAN	testis expressed 26	170																	TCTCTGGAATGGAAAAAGTTA	0.398													29	28	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48954366	48954366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:48954366delC	ENST00000267163.4	+	16	1625	c.1487delC	c.(1486-1488)gcfs	p.A496fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	496	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.A496fs*4(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTGTAATGGCCACATATAGC	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			16	4	---	---	---	---					
NALCN	259232	broad.mit.edu	37	13	101777002	101777002	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr13:101777002delT	ENST00000251127.6	-	18	2230	c.2149delA	c.(2149-2151)ggfs	p.R717fs		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	717						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGAAGGTTCCTTGCCCTGATG	0.333													36	78	---	---	---	---					
RP11-536C10.16	0	broad.mit.edu	37	14	19412612	19412612	+	RNA	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:19412612delG	ENST00000550928.1	+	0	93																											TATGGCGGGAGGGGAATACTT	0.547													7	17	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													3	3	---	---	---	---					
HERC2	8924	broad.mit.edu	37	15	28465785	28465785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr15:28465785delC	ENST00000261609.7	-	37	5766	c.5658delG	c.(5656-5658)ggfs	p.G1886fs		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1886	MIB/HERC2.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTGGAGGAGGCCCATCCTGAG	0.587													63	26	---	---	---	---					
TEX2	55852	broad.mit.edu	37	17	62290280	62290281	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr17:62290280_62290281insC	ENST00000258991.3	-	2	1381_1382	c.1297_1298insG	c.(1297-1299)gagfs	p.E433fs	TEX2_ENST00000584379.1_Frame_Shift_Ins_p.E433fs|TEX2_ENST00000583097.1_Frame_Shift_Ins_p.E433fs			Q8IWB9	TEX2_HUMAN	testis expressed 2	433					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AACTTTACTCTCCCCCTCCGTT	0.485													73	185	---	---	---	---					
ANKLE1	126549	broad.mit.edu	37	19	17397457	17397462	+	In_Frame_Del	DEL	GTGTGT	GTGTGT	-	rs59660863		TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:17397457_17397462delGTGTGT	ENST00000598347.1	+	8	1729_1734	c.1727_1732delGTGTGT	c.(1726-1734)ggt>g	p.GVC576del	ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR|ANKLE1_ENST00000394458.3_3'UTR	NM_001278444.1	NP_001265373.1	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	0						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TTCAGAAGGGgtgtgtgtgtgtgtgt	0.563													2	4	---	---	---	---					
IL4I1	259307	broad.mit.edu	37	19	50399197	50399198	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:50399197_50399198insA	ENST00000595948.1	-	5	812_813	c.192_193insT	c.(190-195)taagcafs	p.*A64fs	IL4I1_ENST00000391826.2_Frame_Shift_Ins_p.*A42fs|IL4I1_ENST00000341114.3_Frame_Shift_Ins_p.*A64fs	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	42						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		AGCAGCTGCTCATAGTCAGGAT	0.629													91	29	---	---	---	---					
ZSCAN22	342945	broad.mit.edu	37	19	58849727	58849727	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chr19:58849727delG	ENST00000329665.4	+	3	658	c.511delG	c.(511-513)gafs	p.G171fs		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	171					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGTTTCCCTTGGACCCGCCTT	0.557													60	9	---	---	---	---					
CFP	5199	broad.mit.edu	37	X	47485755	47485755	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:47485755delC	ENST00000247153.3	-	8	1345	c.1104delG	c.(1102-1104)cgfs	p.R368fs	CFP_ENST00000377005.2_Frame_Shift_Del_p.R368fs|CFP_ENST00000396992.3_Frame_Shift_Del_p.R368fs	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	368	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TGTAGCAGTGCCGGATATCCT	0.607													11	4	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135430723	135430724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-8358-01A-11D-2323-08	TCGA-86-8358-10A-01D-2323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92ba61d-29a2-4cdd-b84f-87b4f35293aa	a4dd8cd0-b74a-4c1e-b680-8e4b1029f636	g.chrX:135430723_135430724insC	ENST00000394143.1	+	6	5149_5150	c.4858_4859insC	c.(4858-4860)aaafs	p.K1620fs	GPR112_ENST00000370652.1_Frame_Shift_Ins_p.K1620fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.K1415fs|GPR112_ENST00000394141.1_Frame_Shift_Ins_p.K1415fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.K1557fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1620					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGGGGCTACTTCAAAAAACAAA	0.426													93	30	---	---	---	---					
