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
LRPPRC	10128	broad.mit.edu	37	2	44204416	44204416	+	Splice_Site	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:44204416C>A	ENST00000260665.7	-	4	527		c.e4-1		LRPPRC_ENST00000409946.1_Splice_Site|LRPPRC_ENST00000409659.1_Splice_Site	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	p.?(1)		breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TACACAGCACCTACAAATGAA	0.289000													4	20					3.59834e-05	4.06832e-05	0.021553	1	0
USH2A	7399	broad.mit.edu	37	1	216497577	216497577	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:216497577C>A	ENST00000366943.2	-	7	1647	c.1261G>T	c.(1261-1263)Gct>Tct	p.A421S	USH2A_ENST00000366942.3_Missense_Mutation_p.A421S|USH2A_ENST00000307340.3_Missense_Mutation_p.A421S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	421	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A421S(1)		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)		ATTCCAAAAGCACCACAATTC	0.338000										HNSCC(13;0.011)			4	26					0.014758	0.0154847	0.014758	1	0
TSPYL2	64061	broad.mit.edu	37	X	53114870	53114870	+	Silent	SNP	A	A	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:53114870A>C	ENST00000375442.4	+	6	1428	c.1296A>C	c.(1294-1296)gcA>gcC	p.A432A		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	432					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding	p.A432A(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						ACTATTATGCAGTGGAAGACA	0.488000													31	43					0	0	0.013726	0	0
ZFP14	57677	broad.mit.edu	37	19	36832235	36832235	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:36832235C>G	ENST00000270001.7	-	5	608	c.493G>C	c.(493-495)Gtt>Ctt	p.V165L		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V165L(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCATTATGAACGATCTGATAC	0.383000													50	190					0	0	0.014410	0	0
COL28A1	340267	broad.mit.edu	37	7	7477083	7477083	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:7477083C>T	ENST00000399429.3	-	22	1873	c.1733G>A	c.(1732-1734)gGc>gAc	p.G578D		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	578	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.G578D(1)		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)		GCCCATAATGCCCGGTTCACC	0.393000													19	23					0	0	0.018920	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70712902	70712902	+	RNA	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:70712902G>T	ENST00000530196.1	-	0	1616					NR_003951.1																						AGGGGATCCCGTCCTGCACAT	0.448000													14	51					1.5739e-10	2.08598e-10	0.028581	1	0
C1orf95	375057	broad.mit.edu	37	1	226784558	226784558	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:226784558C>G	ENST00000366788.3	+	2	363	c.258C>G	c.(256-258)gaC>gaG	p.D86E	C1orf95_ENST00000366789.4_Missense_Mutation_p.D86E	NM_001003665.3	NP_001003665.1	Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	86						integral to membrane		p.D86E(1)		large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		ACCTCCCGGACAGGCATGTGT	0.612000													6	242					0	0	0.004482	0	0
SNRPD3	6634	broad.mit.edu	37	22	24964111	24964111	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:24964111G>T	ENST00000215829.3	+	3	873	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SNRPD3_ENST00000402849.1_Missense_Mutation_p.G96C	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	96	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding	p.G96C(1)|p.G96S(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						CTCAGGGGCTGGCCGAGGAAA	0.458000													16	50					2.94398e-08	3.56106e-08	0.007413	1	0
SCGB2A2	4250	broad.mit.edu	37	11	62037700	62037700	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:62037700G>T	ENST00000525380.1	+	1	71	c.12G>T	c.(10-12)ctG>ctT	p.L4L	SCGB2A2_ENST00000227918.2_Silent_p.L4L			Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	4						extracellular region	steroid binding	p.L4L(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						TGAAGTTGCTGATGGTCCTCA	0.602000													46	214					2.12129e-23	3.5829e-23	0.014410	1	0
FAM105B	90268	broad.mit.edu	37	5	14693081	14693081	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:14693081C>T	ENST00000284274.4	+	7	1061	c.983C>T	c.(982-984)cCa>cTa	p.P328L		NM_138348.4	NP_612357.4	Q96BN8	F105B_HUMAN	family with sequence similarity 105, member B	328								p.P328L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					AAGGACTGGCCAGTGGTAACG	0.562000													22	55					0	0	0.014323	0	0
LRRTM4	80059	broad.mit.edu	37	2	77746912	77746912	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:77746912G>T	ENST00000409088.3	-	3	497	c.83C>A	c.(82-84)aCg>aAg	p.T28K	LRRTM4_ENST00000409911.1_Missense_Mutation_p.T29K|LRRTM4_ENST00000409093.1_Missense_Mutation_p.T28K|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T29K|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T28K	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	28						integral to membrane		p.T28M(2)|p.T28K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGAGCACCCGTGAGCATAAC	0.443000													12	31					5.16669e-11	6.98133e-11	0.010729	1	0
ABCB5	340273	broad.mit.edu	37	7	20778656	20778656	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:20778656T>A	ENST00000404938.2	+	24	3570	c.2918T>A	c.(2917-2919)gTt>gAt	p.V973D	ABCB5_ENST00000258738.6_Missense_Mutation_p.V528D	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	528					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.V528D(1)|p.V973D(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAACGCTCGTTTTGGCTCCT	0.423000													16	22					0	0	0.008871	0	0
CRTC1	23373	broad.mit.edu	37	19	18888001	18888001	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:18888001A>T	ENST00000338797.6	+	15	1787	c.1762A>T	c.(1762-1764)Agc>Tgc	p.S588C	CRTC1_ENST00000594658.1_Missense_Mutation_p.S531C|CRTC1_ENST00000321949.8_Missense_Mutation_p.S572C|CRTC1_ENST00000601916.1_Missense_Mutation_p.S330C	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	572					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding	p.S572fs*4(1)|p.S572C(1)|p.S588C(1)	CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GTCCCCCCCCAGCCTCTCTAA	0.627000													21	71					0	0	0.016522	0	0
SENP7	57337	broad.mit.edu	37	3	101047372	101047372	+	Silent	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:101047372T>A	ENST00000394095.2	-	22	2867	c.2814A>T	c.(2812-2814)ctA>ctT	p.L938L	SENP7_ENST00000358203.3_Silent_p.L774L|SENP7_ENST00000394085.3_Silent_p.L126L|SENP7_ENST00000394094.2_Silent_p.L873L|SENP7_ENST00000314261.7_Silent_p.L872L|SENP7_ENST00000348610.3_Silent_p.L905L|SENP7_ENST00000394091.1_Silent_p.L774L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	938	Protease.				proteolysis	nucleus	cysteine-type peptidase activity	p.L872L(1)|p.L938L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAAGGAGTCTAGTATAAGAA	0.308000													13	74					0	0	0.020292	0	0
CCDC132	55610	broad.mit.edu	37	7	92979331	92979331	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:92979331G>T	ENST00000544910.1	+	26	2579	c.2359G>T	c.(2359-2361)Gat>Tat	p.D787Y	CCDC132_ENST00000305866.5_Missense_Mutation_p.D817Y|CCDC132_ENST00000474412.1_3'UTR|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000535481.1_Missense_Mutation_p.D537Y	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	817								p.D817Y(1)		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)			CATATATGTAGATGCACTATT	0.378000													10	86					0.000442599	0.000478906	0.006214	1	0
OBSCN	84033	broad.mit.edu	37	1	228565299	228565299	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:228565299A>G	ENST00000570156.2	+	113	26334	c.26260A>G	c.(26260-26262)Atg>Gtg	p.M8754V	OBSCN_ENST00000366707.4_Missense_Mutation_p.M5431V|OBSCN_ENST00000422127.1_Missense_Mutation_p.M7797V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7797					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.M8379V(1)|p.M8509V(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCCGAGAACATGATCATCAC	0.552000													13	62					0	0	0.013537	0	0
ABCA7	10347	broad.mit.edu	37	19	1046335	1046335	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:1046335C>A	ENST00000263094.6	+	13	1783	c.1552C>A	c.(1552-1554)Ctc>Atc	p.L518I	ABCA7_ENST00000433129.1_Missense_Mutation_p.L518I|ABCA7_ENST00000435683.2_Missense_Mutation_p.L380I|ABCA7_ENST00000533574.1_3'UTR	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	518					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.L518I(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCCGCGTGCTCAGCGGCGC	0.701000													38	363					1.7489e-18	2.7064e-18	0.011902	1	0
TAOK3	51347	broad.mit.edu	37	12	118650764	118650764	+	Missense_Mutation	SNP	C	C	A	rs147202627	byFrequency	TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:118650764C>A	ENST00000392533.3	-	11	1264	c.774G>T	c.(772-774)ttG>ttT	p.L258F	TAOK3_ENST00000419821.2_Missense_Mutation_p.L258F	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	258	Protein kinase.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.L258F(1)		central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTATTTTCTGCAAGCAGTAAT	0.358000													8	28					2.27111e-07	2.72337e-07	0.013537	1	0
LMLN	89782	broad.mit.edu	37	3	197707307	197707307	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:197707307C>T	ENST00000330198.4	+	6	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_ENST00000420910.2_Silent_p.T220T|LMLN_ENST00000482695.1_Silent_p.T168T|LMLN_ENST00000332636.5_Silent_p.T168T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	220					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.T220T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCTGGCCACCGAGAGATGCA	0.502000													32	147					0	0	0.011902	0	0
MYH4	4622	broad.mit.edu	37	17	10355258	10355258	+	Splice_Site	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:10355258C>A	ENST00000255381.2	-	27	3848	c.3738_splice	c.e27+1	p.K1246_splice	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1246					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.K1246N(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TAATGAAGACCTTGGCTTTGG	0.388000													37	117					6.04917e-29	1.05385e-28	0.027894	1	0
MUC17	140453	broad.mit.edu	37	7	100677522	100677522	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:100677522G>C	ENST00000306151.4	+	3	2889	c.2825G>C	c.(2824-2826)aGa>aCa	p.R942T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	942	59 X approximate tandem repeats.|Ser-rich.		R -> S (in dbSNP:rs10238201).			extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.R942T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTAGAACACTTTCA	0.512000													33	621					0	0	0.013726	0	0
DNAH9	1770	broad.mit.edu	37	17	11593391	11593391	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:11593391G>T	ENST00000262442.3	+	20	4320	c.4252G>T	c.(4252-4254)Gat>Tat	p.D1418Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.D1418Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1418	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D1418Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACTATGAGGATGAGGTCCG	0.562000													11	52					5.16669e-11	6.98133e-11	0.010729	1	0
SLC17A2	10246	broad.mit.edu	37	6	25921560	25921560	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:25921560G>T	ENST00000377850.3	-	4	845	c.321C>A	c.(319-321)atC>atA	p.I107I	SLC17A2_ENST00000360488.3_Silent_p.I107I|SLC17A2_ENST00000265425.3_Silent_p.I107I			O00624	NPT3_HUMAN	solute carrier family 17, member 2	107					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.I107I(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						ATCCACTTGGGATCAGAGTCA	0.448000													41	69					4.16155e-14	5.97279e-14	0.008740	1	0
FNIP1	96459	broad.mit.edu	37	5	131008460	131008460	+	Silent	SNP	A	A	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:131008460A>G	ENST00000307968.7	-	13	1592	c.1593T>C	c.(1591-1593)gaT>gaC	p.D531D	FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.D514D|FNIP1_ENST00000510461.1_Silent_p.D559D	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1									p.D559D(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CGATGGCTTCATCTTCTCCAT	0.363000													11	136					0	0	0.020292	0	0
LARP1	23367	broad.mit.edu	37	5	154181956	154181956	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:154181956C>G	ENST00000336314.4	+	11	1899	c.1875C>G	c.(1873-1875)atC>atG	p.I625M		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	702							protein binding|RNA binding	p.I625M(1)|p.I702M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATTCCCAGATCAAGGTGAGGC	0.502000													4	71					0	0	0.009096	0	0
MUC16	94025	broad.mit.edu	37	19	9077673	9077673	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:9077673C>A	ENST00000397910.4	-	3	9976	c.9773G>T	c.(9772-9774)aGc>aTc	p.S3258I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3259	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3258I(2)		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						GTGAGAGATGCTGGTGCTGCC	0.527000													40	124					1.30998e-17	1.99377e-17	0.023175	1	0
ZNF418	147686	broad.mit.edu	37	19	58439201	58439201	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:58439201C>T	ENST00000396147.1	-	4	639	c.348G>A	c.(346-348)ggG>ggA	p.G116G	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000425570.3_Silent_p.G137G|ZNF418_ENST00000599852.1_Silent_p.G31G|ZNF418_ENST00000595830.1_Silent_p.G116G	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G116G(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	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;0.0158)		ACAATTTATTCCCCCATGCCT	0.468000													19	222					0	0	0.007413	0	0
F2R	2149	broad.mit.edu	37	5	76028404	76028404	+	Silent	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:76028404A>T	ENST00000319211.4	+	2	619	c.354A>T	c.(352-354)ccA>ccT	p.P118P		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	118					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity	p.P118P(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCAGCCTCCCACTAAACATCA	0.517000													53	212					0	0	0.014410	0	0
ATRIP	84126	broad.mit.edu	37	3	48501913	48501913	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:48501913G>A	ENST00000412052.1	+	8	1643	c.1181G>A	c.(1180-1182)tGc>tAc	p.C394Y	ATRIP_ENST00000346691.4_Missense_Mutation_p.C487Y|ATRIP_ENST00000357105.6_Missense_Mutation_p.C360Y|ATRIP_ENST00000320211.3_Missense_Mutation_p.C487Y	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	487					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity	p.C487Y(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACCTGGTGTGCCACAGCGGA	0.562000								Other conserved DNA damage response genes					31	113					0	0	0.013726	0	0
ZNF592	9640	broad.mit.edu	37	15	85327613	85327613	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:85327613G>A	ENST00000299927.3	+	1	1729	c.1707G>A	c.(1705-1707)gcG>gcA	p.A569A	ZNF592_ENST00000560079.2_Silent_p.A569A			Q92610	ZN592_HUMAN	zinc finger protein 592	569					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A569A(1)		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)			CCCTCTATGCGCCAAATCTCA	0.597000													27	126					0	0	0.006320	0	0
COL28A1	340267	broad.mit.edu	37	7	7477086	7477086	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:7477086G>A	ENST00000399429.3	-	22	1870	c.1730C>T	c.(1729-1731)cCg>cTg	p.P577L		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	577	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	p.P577L(1)		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)		CATAATGCCCGGTTCACCCTT	0.388000													18	23					0	0	0.016522	0	0
MALAT1	378938	broad.mit.edu	37	11	65272262	65272262	+	RNA	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:65272262C>T	ENST00000534336.1	+	0	7030					NR_002819.2																						TTCTCTCTCCCCTCCCTTGGT	0.418000													16	64					0	0	0.028581	0	0
MGA	23269	broad.mit.edu	37	15	42042148	42042148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:42042148G>T	ENST00000219905.7	+	17	6524	c.6343G>T	c.(6343-6345)Gaa>Taa	p.E2115*	MGA_ENST00000566586.1_Nonsense_Mutation_p.E1906*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E2076*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E2115*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E1906*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2076						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.E2164*(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TGTGAAGGTGGAACAGCAGAA	0.363000													8	31					2.74318e-10	3.60124e-10	0.006214	1	0
CATSPERB	79820	broad.mit.edu	37	14	92074715	92074715	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:92074715C>A	ENST00000256343.3	-	22	2788	c.2632G>T	c.(2632-2634)Gct>Tct	p.A878S		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	878					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.A878S(1)		NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AGTGGAATAGCAATTCCCATA	0.299000													10	50					2.80697e-09	3.5024e-09	0.010729	1	0
EMR2	30817	broad.mit.edu	37	19	14857057	14857057	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:14857057G>A	ENST00000315576.3	-	18	2621	c.2170C>T	c.(2170-2172)Ctc>Ttc	p.L724F	EMR2_ENST00000601345.1_Missense_Mutation_p.L713F|EMR2_ENST00000392967.2_Missense_Mutation_p.L713F|EMR2_ENST00000392964.3_3'UTR|EMR2_ENST00000346057.1_Missense_Mutation_p.L675F|EMR2_ENST00000595839.1_Missense_Mutation_p.L582F|EMR2_ENST00000594294.1_Missense_Mutation_p.L675F|EMR2_ENST00000596991.2_Missense_Mutation_p.L713F|EMR2_ENST00000392965.3_Missense_Mutation_p.L666F|EMR2_ENST00000594076.1_Missense_Mutation_p.L631F|EMR2_ENST00000353005.1_Missense_Mutation_p.L582F|EMR2_ENST00000353876.1_Missense_Mutation_p.L631F	NM_013447.2	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	724					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.L724F(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTGTTCCGGAGGGTGGACACT	0.478000													80	292					0	0	0.014410	0	0
TSG101	7251	broad.mit.edu	37	11	18503192	18503192	+	Silent	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:18503192C>G	ENST00000536719.1	-	9	1202	c.1068G>C	c.(1066-1068)ctG>ctC	p.L356L	TSG101_ENST00000357193.3_Silent_p.L251L|TSG101_ENST00000251968.3_Silent_p.L356L			Q99816	TS101_HUMAN	tumor susceptibility 101	356	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	p.D357Y(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GGAAGACATCCAGGTCTATCA	0.408000													26	76					0	0	0.021523	0	0
RYR2	6262	broad.mit.edu	37	1	237813354	237813354	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:237813354G>T	ENST00000366574.2	+	50	8007	c.7690G>T	c.(7690-7692)Gct>Tct	p.A2564S	RYR2_ENST00000542537.1_Missense_Mutation_p.A2548S|RYR2_ENST00000360064.6_Missense_Mutation_p.A2562S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2564	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A2562S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTTACCAAAGCTCAGCGGGA	0.403000													56	171					3.00063e-23	5.03742e-23	0.014410	1	0
CHRNA1	1134	broad.mit.edu	37	2	175624091	175624091	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:175624091G>A	ENST00000348749.5	-	3	279	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	CHRNA1_ENST00000261007.5_Nonsense_Mutation_p.Q68*|CHRNA1_ENST00000409219.1_Nonsense_Mutation_p.Q68*|CHRNA1_ENST00000409323.1_Nonsense_Mutation_p.Q68*|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Nonsense_Mutation_p.Q68*	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	68					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.Q68*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GTCACGATCTGATTTACTTCA	0.473000													30	126					0	0	0.010818	0	0
MCF2L2	23101	broad.mit.edu	37	3	182897375	182897375	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:182897375C>T	ENST00000328913.3	-	29	3508	c.3211G>A	c.(3211-3213)Gag>Aag	p.E1071K	MCF2L2_ENST00000473233.1_Missense_Mutation_p.E1071K	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	1071					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.E1071K(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GTTTCCTCCTCATCGCGTTCT	0.562000													12	76					0	0	0.016723	0	0
AMER3	205147	broad.mit.edu	37	2	131519874	131519874	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:131519874G>C	ENST00000423981.1	+	2	339	c.229G>C	c.(229-231)Gga>Cga	p.G77R	AMER3_ENST00000321420.4_Missense_Mutation_p.G77R	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3									p.G77R(1)									CCCCAAAGGGGGACCCGCAGC	0.647000													3	18					0	0	0.009096	0	0
CELSR3	1951	broad.mit.edu	37	3	48685348	48685348	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:48685348C>T	ENST00000544264.1	-	21	7350	c.7070G>A	c.(7069-7071)cGa>cAa	p.R2357Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R2352Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2352					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.R2352Q(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATCCTGGCCTCGAAAGAGGTT	0.632000													5	298					0	0	0.001984	0	0
TRIM67	440730	broad.mit.edu	37	1	231349585	231349585	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:231349585G>A	ENST00000444294.3	+	9	3000	c.2142G>A	c.(2140-2142)ggG>ggA	p.G714G	TRIM67_ENST00000366652.2_Silent_p.G716G|TRIM67_ENST00000449018.3_Silent_p.G654G|TRIM67_ENST00000366653.5_Silent_p.G716G	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	716	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding	p.G716G(2)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGTGCAAGGGGGCCACCGTGG	0.592000													24	158					0	0	0.010818	0	0
SSTR3	6753	broad.mit.edu	37	22	37602771	37602771	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:37602771C>A	ENST00000328544.3	-	2	1605	c.1072G>T	c.(1072-1074)Ggg>Tgg	p.G358W	SSTR3_ENST00000402501.1_Missense_Mutation_p.G358W	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	358	Glu-rich (acidic).				G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.G358W(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CTctcctccccatcctcctcc	0.716000													21	48					1.22574e-08	1.49572e-08	0.014323	1	0
NAV2	89797	broad.mit.edu	37	11	19890506	19890506	+	Silent	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:19890506A>T	ENST00000396085.1	+	4	835	c.474A>T	c.(472-474)gcA>gcT	p.A158A	NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000349880.4_Silent_p.A158A|NAV2_ENST00000527559.2_Silent_p.A87A|NAV2_ENST00000540292.1_Silent_p.A89A|NAV2_ENST00000360655.4_Silent_p.A94A|NAV2_ENST00000396087.3_Silent_p.A158A	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	158	CH.					nucleus	ATP binding|helicase activity	p.A158A(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATTTCCTGGCAGCTAAGGGAA	0.433000													16	42					0	0	0.014323	0	0
OR4K15	81127	broad.mit.edu	37	14	20443788	20443788	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:20443788G>T	ENST00000305051.5	+	1	186	c.111G>T	c.(109-111)gtG>gtT	p.V37V		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V37V(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGAATTTGTGTTGCTGGGAC	0.398000													40	155					1.8453e-21	3.06076e-21	0.010771	1	0
DYNC2H1	79659	broad.mit.edu	37	11	103029646	103029646	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:103029646G>A	ENST00000375735.2	+	28	4412	c.4268G>A	c.(4267-4269)cGc>cAc	p.R1423H	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R1423H|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1423	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TAGGAAAAACGCTCAGCATTC	0.279000													3	16					0	0	0.004672	0	0
RARG	5916	broad.mit.edu	37	12	53607014	53607014	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:53607014C>T	ENST00000425354.2	-	9	1519	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	RARG_ENST00000543726.1_Silent_p.L322L|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Silent_p.L344L|RARG_ENST00000338561.5_Silent_p.L333L|RARG_ENST00000327550.3_Silent_p.L272L	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	344	Ligand-binding.				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	p.L344L(1)		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)	CGGGCTCCTCCAGGTCCATGC	0.597000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	56					0	0	0.008291	0	0
LRRK1	79705	broad.mit.edu	37	15	101601410	101601410	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:101601410A>T	ENST00000284395.5	+	31	5105	c.4705A>T	c.(4705-4707)Atg>Ttg	p.M1569L	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.M1572L			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1572					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.M1584L(1)|p.M1572L(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAAGGGCCTCATGGAGGTGCA	0.617000													12	48					0	0	0.013537	0	0
LINC01420	550643	broad.mit.edu	37	X	56763903	56763903	+	RNA	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:56763903A>T	ENST00000374922.4	+	0	468					NR_015367.2													p.D36E(1)									CATATATTGTATCATCTCTCA	0.403000													10	7					0	0	0.006214	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711965	140711965	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:140711965T>A	ENST00000517417.1	+	1	1714	c.1714T>A	c.(1714-1716)Tct>Act	p.S572T	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S572T	NM_018912.2	NP_061735.1												p.S572T(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGATGGTTCTACCGGCGT	0.662000													68	181					0	0	0.014410	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965549	88965549	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:88965549G>T	ENST00000333190.4	+	4	3862	c.3253G>T	c.(3253-3255)Gtg>Ttg	p.V1085L		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1085						intracellular	zinc ion binding	p.V1085L(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATACTGGTGTGACTGATTC	0.348000										HNSCC(36;0.09)			48	65					5.57489e-27	9.59159e-27	0.014410	1	0
KRT79	338785	broad.mit.edu	37	12	53215788	53215788	+	Silent	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:53215788C>A	ENST00000330553.5	-	9	1510	c.1476G>T	c.(1474-1476)ggG>ggT	p.G492G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	492	Tail.					keratin filament	structural molecule activity	p.G492G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCCCACTCCCACCCAGGG	0.612000													17	58					3.41278e-10	4.45915e-10	0.004990	1	0
AGBL1	123624	broad.mit.edu	37	15	87217502	87217502	+	Splice_Site	SNP	A	A	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:87217502A>G	ENST00000441037.2	+	22	3014		c.e22-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.?(1)		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						TTTAACTGGCAGGGTCTACAG	0.478000													6	15					0	0	0.001984	0	0
MLX	6945	broad.mit.edu	37	17	40720536	40720536	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:40720536A>G	ENST00000246912.4	+	3	343	c.290A>G	c.(289-291)aAt>aGt	p.N97S	MLX_ENST00000435881.2_Missense_Mutation_p.N43S|MLX_ENST00000346833.4_Intron	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	97	Helix-loop-helix motif.				energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.N97S(1)		kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TCCAGAGCTAATAGCATCGGT	0.547000													68	254					0	0	0.014410	0	0
PROS1	5627	broad.mit.edu	37	3	93624636	93624636	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:93624636T>A	ENST00000394236.3	-	6	909	c.593A>T	c.(592-594)gAt>gTt	p.D198V	PROS1_ENST00000407433.1_Missense_Mutation_p.D67V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	198	EGF-like 2; calcium-binding (Potential).				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.D198V(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)	ACCTTTACAATCTTTCTTATT	0.303000													22	59					0	0	0.010504	0	0
NYAP1	222950	broad.mit.edu	37	7	100086913	100086913	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:100086913G>T	ENST00000423930.1	+	4	1728	c.1569G>T	c.(1567-1569)ggG>ggT	p.G523G	NYAP1_ENST00000300179.2_Silent_p.G523G|NYAP1_ENST00000454988.1_Silent_p.G466G			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	523								p.G523G(1)									CAGCAGCTGGGGTCCTCCACC	0.692000													11	17					4.36969e-10	5.65609e-10	0.016723	1	0
INSL6	11172	broad.mit.edu	37	9	5185531	5185531	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr9:5185531G>T	ENST00000381641.3	-	1	137	c.72C>A	c.(70-72)agC>agA	p.S24R		NM_007179.2	NP_009110.2	Q9Y581	INSL6_HUMAN	insulin-like 6	24						extracellular region	hormone activity	p.S24R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		TGCTGATGTCGCTCAGTTCAC	0.587000													23	25					1.5548e-18	2.41955e-18	0.027356	1	0
GAN	8139	broad.mit.edu	37	16	81410934	81410934	+	Splice_Site	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:81410934G>C	ENST00000248272.3	+	10	1774		c.e10+1			NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin						cell death	cytoplasm|neurofilament	protein binding	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CTTGATACAGGTAAGAGTGTT	0.408000													45	308					0	0	0.011902	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33092138	33092138	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr13:33092138C>G	ENST00000267068.3	-	6	1717	c.1553G>C	c.(1552-1554)aGg>aCg	p.R518T	N4BP2L2_ENST00000446957.2_Missense_Mutation_p.R518T|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.R89T|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.R74T|N4BP2L2_ENST00000357505.6_Missense_Mutation_p.R74T	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	518								p.R89T(1)|p.R518T(1)		kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGTTTATTCCTCCTAACAAA	0.318000													13	35					0	0	0.020292	0	0
METTL7A	25840	broad.mit.edu	37	12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:51319018C>T	ENST00000548553.1	+	2	1178	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_ENST00000332160.4_Missense_Mutation_p.A66V			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	66						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	p.A66V(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552000													4	77					0	0	0.009096	0	0
KAT6A	7994	broad.mit.edu	37	8	41791382	41791382	+	Silent	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:41791382C>A	ENST00000396930.3	-	18	4899	c.4356G>T	c.(4354-4356)gcG>gcT	p.A1452A	KAT6A_ENST00000265713.2_Silent_p.A1452A|KAT6A_ENST00000406337.1_Silent_p.A1452A	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1452					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.A1452A(1)									GGGTCTGACACGCCGCAAGAG	0.532000													25	148					3.11337e-16	4.63659e-16	0.013726	1	0
TMIGD2	126259	broad.mit.edu	37	19	4298087	4298087	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:4298087G>T	ENST00000301272.2	-	2	347	c.302C>A	c.(301-303)cCt>cAt	p.P101H	TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000595645.1_Missense_Mutation_p.P101H|TMIGD2_ENST00000600349.1_Intron	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	101	Ig-like.					integral to membrane		p.P101L(1)|p.P101H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGGCTCACAGGGTCCAGCTG	0.642000													38	136					6.2361e-21	1.02213e-20	0.007835	1	0
NTS	4922	broad.mit.edu	37	12	86268247	86268247	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:86268247G>T	ENST00000256010.6	+	1	173	c.66G>T	c.(64-66)ctG>ctT	p.L22L	NTS_ENST00000551529.1_Silent_p.L22L	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	22					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	p.L22L(1)		large_intestine(2)|lung(6)	8						CCTGGAGTCTGTGCTCAGGTA	0.423000													15	50					2.32078e-09	2.90886e-09	0.024245	1	0
CRB1	23418	broad.mit.edu	37	1	197390454	197390454	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:197390454G>T	ENST00000367400.3	+	6	1631	c.1496G>T	c.(1495-1497)gGc>gTc	p.G499V	CRB1_ENST00000535699.1_Missense_Mutation_p.G430V|CRB1_ENST00000367399.2_Missense_Mutation_p.G387V|CRB1_ENST00000538660.1_Missense_Mutation_p.G499V|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000543483.1_Missense_Mutation_p.G198V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	499	Laminin G-like 1.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G499V(1)		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						GTCAAAAGTGGCTCAGTGACA	0.502000													32	54					8.4185e-14	1.20202e-13	0.012213	1	0
RAG2	5897	broad.mit.edu	37	11	36614627	36614627	+	Missense_Mutation	SNP	G	G	T	rs150349031	byFrequency	TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:36614627G>T	ENST00000311485.3	-	2	1253	c.1092C>A	c.(1090-1092)aaC>aaA	p.N364K		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	364					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding	p.N364K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATGTTTGACTGTTTGTGAATG	0.368000									Familial Hemophagocytic Lymphohistiocytosis				45	157					1.22674e-20	1.99887e-20	0.008740	1	0
SEC16B	89866	broad.mit.edu	37	1	177911130	177911130	+	Missense_Mutation	SNP	C	C	T	rs139593986	by1000genomes	TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:177911130C>T	ENST00000308284.6	-	16	2016	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	643					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.V644M(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GCCTGGGACACGAGGCCATAA	0.512000													23	44					0	0	0.016522	0	0
PCNXL2	80003	broad.mit.edu	37	1	233344406	233344406	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:233344406T>A	ENST00000258229.8	-	13	2955	c.2721A>T	c.(2719-2721)agA>agT	p.R907S	PCNXL2_ENST00000488780.2_Missense_Mutation_p.R40S|PCNXL2_ENST00000430153.1_Missense_Mutation_p.R206S	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	907						integral to membrane		p.R907S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AATAGATTGGTCTGCTATATG	0.398000													12	65					0	0	0.024245	0	0
ZP2	7783	broad.mit.edu	37	16	21213575	21213575	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:21213575G>A	ENST00000574002.1	-	12	1619	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	ZP2_ENST00000219593.4_Silent_p.D379D|ZP2_ENST00000574091.1_Silent_p.D379D|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	379	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity	p.D379D(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGACCTCGACGTCCATAAACC	0.512000													4	40					0	0	0.014758	0	0
TNKS2	80351	broad.mit.edu	37	10	93576936	93576936	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr10:93576936G>T	ENST00000371627.4	+	3	849	c.470G>T	c.(469-471)gGa>gTa	p.G157V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	157					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.G157V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AATACAGATGGAAGGACAGCA	0.408000													6	14					2.0095e-06	2.36864e-06	0.001984	1	0
TCEAL2	140597	broad.mit.edu	37	X	101382384	101382384	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:101382384G>T	ENST00000372780.1	+	3	801	c.582G>T	c.(580-582)atG>atT	p.M194I	TCEAL2_ENST00000329035.2_Missense_Mutation_p.M194I	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.M194I(1)		NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						TTTTGTGGATGCAAAGAAATT	0.463000													68	122					1.07941e-43	2.00669e-43	0.014410	1	0
NARFL	64428	broad.mit.edu	37	16	781625	781625	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:781625C>A	ENST00000540986.1	-	8	2103	c.668G>T	c.(667-669)cGg>cTg	p.R223L	NARFL_ENST00000568545.1_Missense_Mutation_p.R223L|NARFL_ENST00000251588.2_Missense_Mutation_p.R325L|NARFL_ENST00000301694.5_3'UTR|NARFL_ENST00000562862.1_5'UTR			Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	325					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	p.R325L(1)		autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGCCGCGTGCCGGAACACGTG	0.662000													3	3					0.004672	0.00495841	0.004672	1	0
MICAL3	57553	broad.mit.edu	37	22	18301821	18301821	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:18301821C>A	ENST00000441493.2	-	26	3958	c.3606G>T	c.(3604-3606)ttG>ttT	p.L1202F		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1202	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.L1202F(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CTTTGGGGAGCAAAGGCTCAG	0.602000													6	29					3.59834e-05	4.06832e-05	0.021553	1	0
TECRL	253017	broad.mit.edu	37	4	65274940	65274940	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr4:65274940C>A	ENST00000381210.3	-	1	240	c.130G>T	c.(130-132)Ggc>Tgc	p.G44C	TECRL_ENST00000507440.1_Missense_Mutation_p.G44C	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	44					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.G44C(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTTAGAGGGCCCGCTGAGAGT	0.393000													18	31					8.34094e-07	9.91605e-07	0.008871	1	0
C17orf74	201243	broad.mit.edu	37	17	7330250	7330250	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:7330250C>T	ENST00000333870.3	+	3	1014	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	RP11-104H15.7_ENST00000575310.1_RNA|C17orf74_ENST00000574034.1_3'UTR	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	314						integral to membrane		p.R314W(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CTGGGATCAGCGGCGTCGTGG	0.706000													11	47					0	0	0.024245	0	0
SIGLEC12	89858	broad.mit.edu	37	19	51994930	51994930	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:51994930C>T	ENST00000291707.3	-	8	1808	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G467S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	585					cell adhesion	integral to membrane	sugar binding	p.G585S(1)		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)		TACTCATAGCCGATGGCCTCC	0.582000													52	107					0	0	0.014410	0	0
KCNB2	9312	broad.mit.edu	37	8	73480430	73480430	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:73480430G>T	ENST00000523207.1	+	2	1049	c.461G>T	c.(460-462)cGa>cTa	p.R154L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	154					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.R154L(1)|p.R154Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAACTGAGGCGAGAGGCAGAG	0.453000													36	185					6.5261e-18	1.00429e-17	0.008740	1	0
ZNF423	23090	broad.mit.edu	37	16	49671380	49671380	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:49671380C>G	ENST00000561648.1	-	4	1736	c.1683G>C	c.(1681-1683)gaG>gaC	p.E561D	ZNF423_ENST00000563137.2_Missense_Mutation_p.E501D|ZNF423_ENST00000562520.1_Missense_Mutation_p.E501D|ZNF423_ENST00000535559.1_Missense_Mutation_p.E444D|ZNF423_ENST00000567169.1_Missense_Mutation_p.E444D|ZNF423_ENST00000262383.2_Missense_Mutation_p.E561D|ZNF423_ENST00000562871.1_Missense_Mutation_p.E501D	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	561					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.E561D(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				AGGAATAGACCTCCATGAAGG	0.577000													29	95					0	0	0.012213	0	0
HTR1A	3350	broad.mit.edu	37	5	63256504	63256504	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:63256504C>T	ENST00000323865.3	-	1	1276	c.1043G>A	c.(1042-1044)gGc>gAc	p.G348D	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	348					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.G348D(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CATGATGATGCCCAGCGTCTT	0.602000													32	169					0	0	0.025465	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87436744	87436744	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:87436744C>T	ENST00000338056.3	+	10	1475	c.1064C>T	c.(1063-1065)aCc>aTc	p.T355I	RUNDC3B_ENST00000493037.1_Intron|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.T338I	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	355								p.T355I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					GCCCATCTCACCAACCAGTGG	0.413000													18	138					0	0	0.010504	0	0
HERC2	8924	broad.mit.edu	37	15	28459224	28459224	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:28459224C>A	ENST00000261609.7	-	41	6661	c.6553G>T	c.(6553-6555)Ggg>Tgg	p.G2185W		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2185					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	p.G2185W(1)		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)		AAACCCACCCCTTCGGAAGGC	0.537000													28	71					1.80694e-10	2.38344e-10	0.009535	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19713778	19713778	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr21:19713778G>T	ENST00000284885.3	-	13	1549	c.1516C>A	c.(1516-1518)Ctt>Att	p.L506I		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	506					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.L506I(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTGGATAAAGACTCCCATTG	0.383000													22	91					9.95505e-16	1.47463e-15	0.014323	1	0
WNT5B	81029	broad.mit.edu	37	12	1741938	1741938	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:1741938C>A	ENST00000397196.2	+	3	427	c.195C>A	c.(193-195)taC>taA	p.Y65*	WNT5B_ENST00000310594.3_Nonsense_Mutation_p.Y65*|WNT5B_ENST00000542408.1_Nonsense_Mutation_p.Y65*|WNT5B_ENST00000537031.1_Nonsense_Mutation_p.Y65*	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	65					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding	p.Y65*(1)		skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCCAATTGTACCAGGAGCACA	0.612000													40	140					1.49673e-21	2.49756e-21	0.025465	1	0
CCT8L2	150160	broad.mit.edu	37	22	17072423	17072423	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:17072423G>T	ENST00000359963.3	-	1	1277	c.1018C>A	c.(1018-1020)Cct>Act	p.P340T		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	340					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.P340T(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTCTGGGGAGGGAGCAGACGA	0.552000													17	184					6.49762e-13	9.13625e-13	0.006122	1	0
PTPRJ	5795	broad.mit.edu	37	11	48146645	48146645	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:48146645G>T	ENST00000418331.2	+	6	1352	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PTPRJ_ENST00000440289.2_Missense_Mutation_p.G334W	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	334	Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity	p.G334W(4)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCTGCTTGTCGGGTTAGAGCC	0.607000													50	180					7.06795e-37	1.27962e-36	0.014410	1	0
CSMD1	64478	broad.mit.edu	37	8	3265422	3265422	+	Splice_Site	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:3265422G>T	ENST00000520002.1	-	15	2628	c.2074_splice	c.e15+1	p.T691_splice	CSMD1_ENST00000537824.1_Splice_Site_p.T690_splice|CSMD1_ENST00000400186.3_Splice_Site_p.T691_splice|CSMD1_ENST00000602723.1_Splice_Site_p.T691_splice|CSMD1_ENST00000602557.1_Splice_Site_p.T691_splice|CSMD1_ENST00000542608.1_Splice_Site_p.T690_splice|CSMD1_ENST00000539096.1_Splice_Site_p.T690_splice			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	691	CUB 4.					integral to membrane		p.T419T(1)|p.T690T(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CGTACTTACTGGTGTAAGTGA	0.438000													4	14					2.56e-06	2.99207e-06	0.009096	1	0
KCNJ4	3761	broad.mit.edu	37	22	38822911	38822911	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:38822911C>T	ENST00000303592.3	-	2	1485	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	409					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	p.E409E(1)		endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					TGCCCGCCTCCTCCTTGGAAC	0.677000													15	89					0	0	0.007291	0	0
UGGT2	55757	broad.mit.edu	37	13	96515938	96515938	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr13:96515938C>A	ENST00000376747.3	-	31	3659	c.3589G>T	c.(3589-3591)Gat>Tat	p.D1197Y		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1197					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	p.D1197Y(1)		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						GTAAGGATATCTTCCTTAATT	0.308000													9	73					0.00621372	0.00656946	0.006214	1	0
GRIK1	2897	broad.mit.edu	37	21	31311771	31311771	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr21:31311771G>T	ENST00000399914.1	-	1	569	c.48C>A	c.(46-48)gaC>gaA	p.D16E	GRIK1_ENST00000399907.1_Missense_Mutation_p.D16E|GRIK1_ENST00000389125.3_Missense_Mutation_p.D16E|GRIK1_ENST00000309434.7_Missense_Mutation_p.D16E|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.D16E|GRIK1_ENST00000399913.1_Missense_Mutation_p.D16E|GRIK1_ENST00000327783.4_Missense_Mutation_p.D16E|GRIK1_ENST00000535441.1_Missense_Mutation_p.D16E|GRIK1_ENST00000389124.2_Missense_Mutation_p.D16E			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	16					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	p.D16E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CCCAGCTGGTGTCCCTGGTCC	0.622000													10	16					0.000442599	0.000478906	0.006214	1	0
PTGDR	5729	broad.mit.edu	37	14	52735015	52735015	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:52735015G>T	ENST00000306051.2	+	1	585	c.483G>T	c.(481-483)ctG>ctT	p.L161L	PTGDR_ENST00000553372.1_Silent_p.L161L	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	161						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	p.L161L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	CCTTCTCCCTGGCTTTCTGCG	0.637000													43	152					2.24893e-16	3.36732e-16	0.009718	1	0
NTRK1	4914	broad.mit.edu	37	1	156849038	156849038	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:156849038C>A	ENST00000368196.3	+	14	2032	c.1912C>A	c.(1912-1914)Ctg>Atg	p.L638M	NTRK1_ENST00000358660.3_Missense_Mutation_p.L641M|NTRK1_ENST00000524377.1_Missense_Mutation_p.L644M|NTRK1_ENST00000392302.2_Missense_Mutation_p.L608M	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	644	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.L608M(1)|p.L644M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCTGGCGGGTCTGCATTTTGT	0.632000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)			13	38					0.00136819	0.00146328	0.013537	1	0
SNHG14	104472715	broad.mit.edu	37	15	25328007	25328007	+	RNA	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:25328007A>T	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ACTGAGGTCCAGCACATTGCT	0.483000													23	123					0	0	0.024334	0	0
A2ML1	144568	broad.mit.edu	37	12	8976459	8976459	+	Silent	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:8976459C>G	ENST00000299698.7	+	3	570	c.390C>G	c.(388-390)ctC>ctG	p.L130L	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity	p.L130L(1)		NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						ACAAACCTCTCTACACCCCAG	0.493000													13	76					0	0	0.016723	0	0
USH1C	10083	broad.mit.edu	37	11	17552759	17552759	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:17552759C>A	ENST00000005226.7	-	4	328	c.329G>T	c.(328-330)tGt>tTt	p.C110F	USH1C_ENST00000527720.1_Missense_Mutation_p.C79F|USH1C_ENST00000527020.1_Missense_Mutation_p.C110F|USH1C_ENST00000318024.4_Missense_Mutation_p.C110F	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	110	PDZ 1.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.C110F(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAAGAGCCCACAGCCAAACTC	0.657000													18	81					0.000175454	0.000195184	0.010504	1	0
KIF13A	63971	broad.mit.edu	37	6	17849677	17849677	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:17849677G>T	ENST00000378814.5	-	9	760	c.761C>A	c.(760-762)gCg>gAg	p.A254E	KIF13A_ENST00000378816.5_Missense_Mutation_p.A254E|KIF13A_ENST00000378826.2_Missense_Mutation_p.A254E|KIF13A_ENST00000378843.2_Missense_Mutation_p.A254E|KIF13A_ENST00000259711.6_Missense_Mutation_p.A254E	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	254	Kinesin-motor.				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.A254E(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)			TTCGCTACCCGCCAGGTCTAC	0.458000													9	43					2.17888e-05	2.48374e-05	0.006214	1	0
EXTL3	2137	broad.mit.edu	37	8	28600642	28600642	+	Missense_Mutation	SNP	A	A	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:28600642A>G	ENST00000220562.4	+	6	3363	c.2461A>G	c.(2461-2463)Atc>Gtc	p.I821V	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Missense_Mutation_p.I437V	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	821						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.I821V(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCCCCAGGCCATCCGGGACAT	0.493000													83	271					0	0	0.014410	0	0
RHBDL3	162494	broad.mit.edu	37	17	30611731	30611731	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:30611731G>A	ENST00000269051.4	+	3	203	c.189G>A	c.(187-189)ctG>ctA	p.L63L	RHBDL3_ENST00000538145.1_Silent_p.L55L|RHBDL3_ENST00000536287.1_Intron	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	63	EF-hand 1.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	p.L63L(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGAGTCTTCTGGAGAGCCACA	0.587000													17	59					0	0	0.028581	0	0
HAS3	3038	broad.mit.edu	37	16	69148656	69148656	+	Silent	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:69148656A>T	ENST00000306560.1	+	4	1305	c.1149A>T	c.(1147-1149)tcA>tcT	p.S383S	HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.S383S	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	383					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.S383S(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CCTACGAGTCAGTGGTCACGG	0.547000													58	130					0	0	0.014410	0	0
C10orf53	282966	broad.mit.edu	37	10	50916423	50916423	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr10:50916423T>A	ENST00000374112.3	+	3	246	c.234T>A	c.(232-234)agT>agA	p.S78R	C10orf53_ENST00000535836.1_Missense_Mutation_p.S78R	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	81								p.S78R(1)		endometrium(1)|lung(6)	7		all_neural(218;0.107)				tcaccccaagtagtgacaaga	0.483000													31	83					0	0	0.010818	0	0
SH3RF1	57630	broad.mit.edu	37	4	170017740	170017740	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr4:170017740C>G	ENST00000284637.9	-	12	2938	c.2597G>C	c.(2596-2598)tGg>tCg	p.W866S		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	866	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	p.W866S(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GCCTTTGAACCAGCCATCCTC	0.428000													11	140					0	0	0.010729	0	0
RLF	6018	broad.mit.edu	37	1	40701712	40701712	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:40701712G>A	ENST00000372771.4	+	8	1365	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	446					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.P446P(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAAATGCACCGGTTCCAAATT	0.373000													4	165					0	0	0.009096	0	0
MUC17	140453	broad.mit.edu	37	7	100675478	100675478	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:100675478G>C	ENST00000306151.4	+	3	845	c.781G>C	c.(781-783)Gaa>Caa	p.E261Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	261	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.E261*(1)|p.E261Q(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACAACTGCTGAAGGTCCCAG	0.512000													10	278					0	0	0.020292	0	0
CSMD1	64478	broad.mit.edu	37	8	2944669	2944669	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:2944669C>G	ENST00000520002.1	-	50	7982	c.7427G>C	c.(7426-7428)cGa>cCa	p.R2476P	CSMD1_ENST00000537824.1_Missense_Mutation_p.R2475P|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2476P|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2476P|CSMD1_ENST00000602557.1_Missense_Mutation_p.R2476P|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2475P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2476	Sushi 14.					integral to membrane		p.R2204P(1)|p.R2204Q(1)|p.R2475P(1)|p.R2475Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGGTTTCGTCTACAGGT	0.507000													14	47					0	0	0.020292	0	0
PRKCA	5578	broad.mit.edu	37	17	64785039	64785039	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:64785039G>T	ENST00000413366.3	+	16	1822	c.1796G>T	c.(1795-1797)aGg>aTg	p.R599M		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	599	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R599I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TTCTTCCGGAGGATCGACTGG	0.562000													28	103					1.7881e-09	2.27204e-09	0.008361	1	0
FAM208B	54906	broad.mit.edu	37	10	5777379	5777379	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr10:5777379G>A	ENST00000328090.5	+	12	1942	c.1317G>A	c.(1315-1317)agG>agA	p.R439R	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	439								p.R439R(1)									AAAGGGCAAGGAAACAAGAGA	0.388000													5	214					0	0	0.014758	0	0
BCL7B	9275	broad.mit.edu	37	7	72952325	72952325	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:72952325G>A	ENST00000223368.2	-	5	878	c.455C>T	c.(454-456)tCg>tTg	p.S152L	BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Missense_Mutation_p.S95L	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	152							actin binding	p.S152L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				AGCAACTTCCGAGGAGGGCAG	0.542000													5	188					0	0	0.021553	0	0
ORC5	5001	broad.mit.edu	37	7	103844634	103844634	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:103844634T>C	ENST00000297431.4	-	2	263	c.121A>G	c.(121-123)Agt>Ggt	p.S41G	ORC5_ENST00000447452.2_Missense_Mutation_p.S41G|ORC5_ENST00000545943.1_5'UTR|ORC5_ENST00000485726.1_5'UTR	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5	41					cell cycle checkpoint|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	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	p.S41G(2)		kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GTCTTTCCACTAGCAGTATGT	0.294000													23	15					0	0	0.027356	0	0
GLRA4	441509	broad.mit.edu	37	X	102979534	102979534	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:102979534G>T	ENST00000372617.4	-	3	625	c.205C>A	c.(205-207)Cca>Aca	p.P69T		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	69						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.P69T(2)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTCACGGGTGGGCCTGAGGGT	0.582000													7	18					0.000157383	0.000175787	0.003080	1	0
PRKAG2	51422	broad.mit.edu	37	7	151372540	151372540	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:151372540A>T	ENST00000287878.4	-	4	1154	c.650T>A	c.(649-651)cTg>cAg	p.L217Q	PRKAG2_ENST00000492843.1_Missense_Mutation_p.L93Q|PRKAG2_ENST00000433631.2_Missense_Mutation_p.L93Q|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L173Q	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	217					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding	p.L93Q(1)|p.L217Q(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGGTGATGCCAGTGGAGGCCT	0.622000													34	50					0	0	0.023175	0	0
CLASP2	23122	broad.mit.edu	37	3	33586292	33586292	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:33586292G>A	ENST00000399362.4	-	31	3569	c.3216C>T	c.(3214-3216)acC>acT	p.T1072T	CLASP2_ENST00000307312.7_Silent_p.T554T|CLASP2_ENST00000480013.1_Silent_p.T852T|CLASP2_ENST00000359576.5_Silent_p.T1064T|CLASP2_ENST00000468888.2_Silent_p.T1073T|CLASP2_ENST00000461133.3_Silent_p.T832T|CLASP2_ENST00000539981.1_Silent_p.T842T	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	1074								p.T1065T(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TAAACTCTGGGGTATTGAGTT	0.373000													6	21					0	0	0.003080	0	0
OR4N2	390429	broad.mit.edu	37	14	20296431	20296431	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:20296431A>T	ENST00000315947.1	+	1	824	c.824A>T	c.(823-825)cAc>cTc	p.H275L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H275L(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTCTTCCACACAGTGATT	0.433000													19	144					0	0	0.007413	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102522089	102522089	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:102522089G>T	ENST00000321521.9	+	27	3811	c.3238G>T	c.(3238-3240)Gat>Tat	p.D1080Y	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.D1080Y|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.D1080Y|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1080					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity	p.D1080Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAACCTACAGGATTATGCTCG	0.493000													20	51					3.62473e-10	4.71385e-10	0.012319	1	0
RELN	5649	broad.mit.edu	37	7	103205942	103205942	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:103205942G>T	ENST00000424685.2	-	34	5152	c.4993C>A	c.(4993-4995)Cag>Aag	p.Q1665K	RELN_ENST00000343529.5_Missense_Mutation_p.Q1665K|RELN_ENST00000428762.1_Missense_Mutation_p.Q1665K			P78509	RELN_HUMAN	reelin	1665					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	p.Q1665K(1)		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)		ATTTCAAACTGCAAAAAGGTA	0.433000													10	54					2.23348e-06	2.6215e-06	0.028581	1	0
SLC5A5	6528	broad.mit.edu	37	19	17994525	17994525	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:17994525C>T	ENST00000222248.3	+	11	1625	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	426					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.P426P(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						TCAGCGGCCCCCTGCTGGGAG	0.692000													17	89					0	0	0.008871	0	0
MTERFD1	51001	broad.mit.edu	37	8	97270732	97270732	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:97270732T>A	ENST00000523821.1	-	2	306	c.187A>T	c.(187-189)Act>Tct	p.T63S	MTERFD1_ENST00000287025.3_Missense_Mutation_p.T63S			Q96E29	MTER1_HUMAN	MTERF domain containing 1	63					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding	p.T63S(1)		endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AAGGAGGAAGTCCTGTAAGTC	0.433000													23	103					0	0	0.016522	0	0
LPA	4018	broad.mit.edu	37	6	161071502	161071502	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:161071502T>G	ENST00000447678.1	-	3	197	c.77A>C	c.(76-78)cAg>cCg	p.Q26P	LPA_ENST00000316300.5_Missense_Mutation_p.Q26P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	2534	Kringle 1.				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	p.Q26P(1)		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)	GTAGCAATCCTGGACCACATG	0.433000													35	78					0	0	0.017118	0	0
CDH8	1006	broad.mit.edu	37	16	61761098	61761098	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:61761098C>A	ENST00000577390.1	-	9	2390	c.1436G>T	c.(1435-1437)cGa>cTa	p.R479L	CDH8_ENST00000577730.1_Missense_Mutation_p.R479L|CDH8_ENST00000299345.6_Missense_Mutation_p.R479L|CDH8_ENST00000584337.1_Missense_Mutation_p.R479L	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	479	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R479L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AACAGGTACTCGTGATATCTG	0.408000													29	124					5.91797e-21	9.7576e-21	0.012213	1	0
CWC27	10283	broad.mit.edu	37	5	64081315	64081315	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:64081315G>T	ENST00000508024.1	+	5	605	c.404G>T	c.(403-405)gGg>gTg	p.G135V	CWC27_ENST00000381070.3_Missense_Mutation_p.G135V			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	135	PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	p.G135V(1)|p.?(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						TAGGTTACAGGGGATACAGTA	0.308000													10	72					1.56452e-12	2.17775e-12	0.007413	1	0
RBM10	8241	broad.mit.edu	37	X	47034492	47034492	+	Splice_Site	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:47034492G>T	ENST00000377604.3	+	6	1318		c.e6+1		RBM10_ENST00000468791.1_Intron|RBM10_ENST00000345781.6_Splice_Site|RBM10_ENST00000329236.7_Splice_Site	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10						mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	p.?(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGCCAATCAGGTTGCTTTGCC	0.542000													24	20					1.08312e-15	1.59587e-15	0.009535	1	0
OR5D16	390144	broad.mit.edu	37	11	55607017	55607017	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:55607017C>A	ENST00000378396.1	+	1	790	c.790C>A	c.(790-792)Ccc>Acc	p.P264T		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P264T(2)		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)				CTACTGTGTACCCAACTCCAA	0.522000													18	84					0.000295444	0.00032347	0.014323	1	0
UNC5B	219699	broad.mit.edu	37	10	73056384	73056384	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr10:73056384G>C	ENST00000335350.6	+	15	2791	c.2375G>C	c.(2374-2376)tGc>tCc	p.C792S	UNC5B_ENST00000373192.4_Missense_Mutation_p.C781S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	792					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.C792S(1)		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						GCCCTCCACTGCACTTTCACC	0.612000													3	34					0	0	0.021553	0	0
LCLAT1	253558	broad.mit.edu	37	2	30863299	30863299	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:30863299G>C	ENST00000309052.4	+	7	1268	c.1059G>C	c.(1057-1059)tgG>tgC	p.W353C	LCLAT1_ENST00000379509.3_Missense_Mutation_p.W315C|LCLAT1_ENST00000540623.1_Missense_Mutation_p.W315C|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	353					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	p.W353C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TACTGTATTGGACCCTGTTCA	0.403000													51	158					0	0	0.014410	0	0
ZNF536	9745	broad.mit.edu	37	19	31025803	31025803	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:31025803G>T	ENST00000355537.3	+	3	2367	c.2220G>T	c.(2218-2220)ctG>ctT	p.L740L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	740					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.L740L(1)		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)					AACCAGCGCTGCTTCGCGACA	0.567000													64	204					1.31726e-23	2.23854e-23	0.014410	1	0
SLC22A4	6583	broad.mit.edu	37	5	131663013	131663013	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:131663013T>C	ENST00000200652.3	+	5	1042	c.868T>C	c.(868-870)Ttt>Ctt	p.F290L	AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	290					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	p.F290L(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	CCAGAGAAGATTTAGAGAGGC	0.363000													15	49					0	0	0.024245	0	0
DSCR9	257203	broad.mit.edu	37	21	38593865	38593865	+	RNA	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr21:38593865T>A	ENST00000454482.2	+	0	1472				AP001432.14_ENST00000440629.1_lincRNA	NR_026719.2																						GACTGGAAGGTTCGTTCCCCT	0.522000													27	106					0	0	0.027356	0	0
MRM1	79922	broad.mit.edu	37	17	34964761	34964761	+	Silent	SNP	A	A	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:34964761A>G	ENST00000250156.7	+	5	1211	c.972A>G	c.(970-972)caA>caG	p.Q324Q	MRM1_ENST00000585770.1_Silent_p.Q129Q	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	324					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity	p.Q324Q(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		AAGACCCCCAAGAACCCTCAG	0.567000													63	247					0	0	0.014410	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503215	140503215	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:140503215G>A	ENST00000194152.1	+	1	1635	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		545	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.L545L(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGGCGCTGGTGCGCGTGC	0.692000													8	87					0	0	0.004482	0	0
MED13L	23389	broad.mit.edu	37	12	116413011	116413011	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:116413011C>A	ENST00000281928.3	-	25	5902	c.5696G>T	c.(5695-5697)gGg>gTg	p.G1899V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1899					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.G1899V(1)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCAAGTCGCCCGATTACAAC	0.443000													16	58					0.000308642	0.00033659	0.024245	1	0
CPA2	1358	broad.mit.edu	37	7	129909536	129909536	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:129909536C>G	ENST00000222481.4	+	3	236	c.181C>G	c.(181-183)Cca>Gca	p.P61A		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	61					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.P59A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ACCCACCACCCCAGGGGAGAC	0.498000													67	81					0	0	0.014410	0	0
ADH7	131	broad.mit.edu	37	4	100340244	100340244	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr4:100340244C>A	ENST00000437033.2	-	7	1363	c.860G>T	c.(859-861)gGg>gTg	p.G287V	ADH7_ENST00000482593.1_Missense_Mutation_p.G230V|ADH7_ENST00000476959.1_Missense_Mutation_p.G307V|ADH7_ENST00000209665.4_Missense_Mutation_p.G299V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	299					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	p.G299V(1)|p.G307V(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CACGCTGGTCCCATAGTTCAT	0.493000													22	23					6.44725e-10	8.30646e-10	0.014323	1	0
EGFR	1956	broad.mit.edu	37	7	55259515	55259515	+	Missense_Mutation	SNP	T	T	G	rs121434568		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:55259515T>G	ENST00000275493.2	+	21	2750	c.2573T>G	c.(2572-2574)cTg>cGg	p.L858R	EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.L813R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	858	Protein kinase.		L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L858R(1489)|p.L858Q(1)|p.L858K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATTTTGGGCTGGCCAAACTG	0.537000	L858R(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			98	137					0	0	0.014410	0	0
RELN	5649	broad.mit.edu	37	7	103159823	103159823	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:103159823G>T	ENST00000424685.2	-	49	7968	c.7809C>A	c.(7807-7809)ggC>ggA	p.G2603G	RELN_ENST00000343529.5_Silent_p.G2603G|RELN_ENST00000428762.1_Silent_p.G2603G			P78509	RELN_HUMAN	reelin	2603					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	p.G2603G(1)		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)		TCCAGGTAATGCCTCCATTGA	0.413000													64	81					4.46356e-37	8.13425e-37	0.014410	1	0
KCNA4	3739	broad.mit.edu	37	11	30033103	30033103	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:30033103C>A	ENST00000328224.6	-	2	2356	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	375						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.E375*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAGACTGTTTCCACGATGAAG	0.458000													35	113					2.42023e-17	3.66341e-17	0.015359	1	0
CCDC106	29903	broad.mit.edu	37	19	56160839	56160839	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:56160839G>T	ENST00000586790.1	+	3	1106	c.202G>T	c.(202-204)Gct>Tct	p.A68S	CCDC106_ENST00000308964.3_Missense_Mutation_p.A68S|CCDC106_ENST00000591578.1_Missense_Mutation_p.A68S|CCDC106_ENST00000588740.1_Missense_Mutation_p.A68S|CCDC106_ENST00000591241.1_Missense_Mutation_p.A33S			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	68						nucleus		p.A68S(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		GCTGCACATGGCTCTGGAGAG	0.622000													17	52					9.16793e-09	1.12368e-08	0.004990	1	0
ZNF880	400713	broad.mit.edu	37	19	52876489	52876489	+	Splice_Site	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:52876489G>T	ENST00000422689.2	+	2	153	c.139_splice	c.e2+1	p.L46_splice	ZNF880_ENST00000424032.2_Splice_Site_p.L46_splice|ZNF880_ENST00000600321.1_Splice_Site_p.L46_splice|ZNF880_ENST00000344085.5_Splice_Site_p.L46_splice|ZNF880_ENST00000597976.1_Splice_Site_p.L46_splice	NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	46	KRAB.				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.L46L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TGGTCTTTCTGGGTGAGGATA	0.468000													11	76					9.31168e-06	1.07026e-05	0.016723	1	0
FGD4	121512	broad.mit.edu	37	12	32735088	32735088	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:32735088C>G	ENST00000427716.2	+	4	711	c.287C>G	c.(286-288)gCa>gGa	p.A96G	FGD4_ENST00000525053.1_Missense_Mutation_p.A208G|FGD4_ENST00000531134.1_Missense_Mutation_p.A181G|FGD4_ENST00000472289.1_Missense_Mutation_p.A96G|FGD4_ENST00000534526.2_Missense_Mutation_p.A233G|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000546442.1_Missense_Mutation_p.A3G	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	96	Actin filament-binding (By similarity).				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A96G(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GTAATGGCAGCACAAAACCAG	0.473000													5	66					0	0	0.006214	0	0
PHACTR1	221692	broad.mit.edu	37	6	13283719	13283719	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:13283719C>T	ENST00000332995.7	+	11	1575	c.1575C>T	c.(1573-1575)taC>taT	p.Y525Y	PHACTR1_ENST00000379329.1_Silent_p.Y89Y|PHACTR1_ENST00000379335.3_Silent_p.Y89Y|PHACTR1_ENST00000457702.2_Silent_p.Y380Y|RP1-257A7.4_ENST00000606150.1_RNA			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	525						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity	p.Y525Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TCAGTGACTACGTGGAGGTGG	0.592000													27	143					0	0	0.008361	0	0
AGO2	27161	broad.mit.edu	37	8	141595310	141595310	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:141595310C>G	ENST00000220592.5	-	2	235	c.123G>C	c.(121-123)caG>caC	p.Q41H	AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Missense_Mutation_p.Q41H	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2									p.Q41H(1)									AGAAATTGGCCTGTAATTTGA	0.498000													27	88					0	0	0.027356	0	0
MED12L	116931	broad.mit.edu	37	3	151127077	151127077	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:151127077C>A	ENST00000474524.1	+	38	5800	c.5762C>A	c.(5761-5763)cCc>cAc	p.P1921H	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1921	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.P1921H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGCACGGCCCTCCCCTCAG	0.527000													23	131					1.64293e-13	2.3219e-13	0.018920	1	0
OR4D6	219983	broad.mit.edu	37	11	59225059	59225059	+	Missense_Mutation	SNP	T	T	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:59225059T>A	ENST00000300127.2	+	1	649	c.626T>A	c.(625-627)cTc>cAc	p.L209H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L209H(1)		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						GTGACCCTGCTCTGGTTCCTC	0.557000													38	149					0	0	0.025465	0	0
ATP8B4	79895	broad.mit.edu	37	15	50264909	50264909	+	Silent	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:50264909A>T	ENST00000284509.6	-	13	1254	c.1113T>A	c.(1111-1113)ccT>ccA	p.P371P	ATP8B4_ENST00000559829.1_Silent_p.P371P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	371					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P371P(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GAGCCACTGCAGGTATTGCTT	0.418000													9	30					0	0	0.028581	0	0
PSG3	5671	broad.mit.edu	37	19	43233410	43233410	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:43233410C>T	ENST00000327495.5	-	5	1292	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	PSG3_ENST00000595140.1_Missense_Mutation_p.G370R	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	370	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region		p.G370R(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGAAACTTCCCATTAATTGTC	0.443000													80	309					0	0	0.014410	0	0
ADAM22	53616	broad.mit.edu	37	7	87780637	87780637	+	Splice_Site	SNP	T	T	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:87780637T>G	ENST00000398204.4	+	20	2004		c.e20+2		ADAM22_ENST00000315984.7_Splice_Site|ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	p.?(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GGGGGCAAAGTAAGTAAATAG	0.403000													19	124					0	0	0.012319	0	0
FMN2	56776	broad.mit.edu	37	1	240371509	240371509	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:240371509C>A	ENST00000319653.9	+	5	3627	c.3397C>A	c.(3397-3399)Ccc>Acc	p.P1133T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1133	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1276T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ACCCCCTCCTCCCCCTCTTCC	0.716000													6	15					5.18039e-06	6.02928e-06	0.003080	1	0
UNC13D	201294	broad.mit.edu	37	17	73836332	73836332	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:73836332G>A	ENST00000207549.4	-	10	1211	c.832C>T	c.(832-834)Ctc>Ttc	p.L278F	UNC13D_ENST00000587504.1_5'UTR|UNC13D_ENST00000412096.2_Missense_Mutation_p.L278F	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	278	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.L278F(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGAACTGGAGGTGGCACTGG	0.672000									Familial Hemophagocytic Lymphohistiocytosis				8	44					0	0	0.013537	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342195	94342195	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:94342195G>A	ENST00000436063.2	-	2	1353	c.1296C>T	c.(1294-1296)aaC>aaT	p.N432N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.N432N(1)		NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		CCTGAGATGTGTTGGGCGCAG	0.388000													56	226					0	0	0.014410	0	0
CELF5	60680	broad.mit.edu	37	19	3281249	3281249	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:3281249C>T	ENST00000541430.2	+	6	692	c.656C>T	c.(655-657)aCg>aTg	p.T219M	CELF5_ENST00000292672.2_Missense_Mutation_p.T219M	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	219					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding	p.T219M(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AAGGAGCGGACGCTCCGGCGC	0.677000													11	103					0	0	0.006122	0	0
CPS1	1373	broad.mit.edu	37	2	211459298	211459298	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:211459298C>T	ENST00000233072.5	+	12	1427	c.1231C>T	c.(1231-1233)Ccg>Tcg	p.P411S	CPS1_ENST00000430249.2_Missense_Mutation_p.P417S|CPS1_ENST00000451903.2_5'UTR	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	411					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P411S(1)|p.P417S(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		ATCAGTCTTACCGAAGCCAGC	0.363000													7	32					0	0	0.006214	0	0
OR10H1	26539	broad.mit.edu	37	19	15918047	15918047	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:15918047C>A	ENST00000334920.2	-	1	889	c.801G>T	c.(799-801)caG>caT	p.Q267H		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q267H(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CTTCCAGAGACTGGGGACTTT	0.562000													34	82					1.26612e-14	1.85563e-14	0.015359	1	0
CXorf22	170063	broad.mit.edu	37	X	35993959	35993959	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:35993959G>T	ENST00000297866.5	+	15	2708	c.2642G>T	c.(2641-2643)tGt>tTt	p.C881F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	881								p.C881F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CGTCAGAATTGTTGTGCTCAG	0.383000													61	74					6.2918e-36	1.13171e-35	0.014410	1	0
SOX5	6660	broad.mit.edu	37	12	23818455	23818455	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:23818455G>A	ENST00000546136.1	-	6	817	c.815C>T	c.(814-816)cCt>cTt	p.P272L	SOX5_ENST00000545921.1_Missense_Mutation_p.P275L|SOX5_ENST00000451604.2_Missense_Mutation_p.P285L|SOX5_ENST00000381381.2_Missense_Mutation_p.P272L|SOX5_ENST00000537393.1_Missense_Mutation_p.P250L|SOX5_ENST00000541536.1_Missense_Mutation_p.P272L|SOX5_ENST00000309359.1_Missense_Mutation_p.P272L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	285					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P285L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCGTTGATCAGGAGGGAATAC	0.488000													28	87					0	0	0.013726	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142548567	142548567	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:142548567G>A	ENST00000295992.3	-	6	1138	c.832C>T	c.(832-834)Cag>Tag	p.Q278*	PCOLCE2_ENST00000485766.1_Intron	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	278						extracellular region	collagen binding|heparin binding|peptidase activator activity	p.Q278*(1)		NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTGACAGGCTGTTCTGTAGTT	0.368000													33	167					0	0	0.012213	0	0
NPAP1	23742	broad.mit.edu	37	15	24921511	24921511	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:24921511C>A	ENST00000329468.2	+	1	971	c.497C>A	c.(496-498)cCg>cAg	p.P166Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P166Q(1)									GATGAGGATCCGGTGCAGATC	0.632000													18	68					9.16793e-09	1.12368e-08	0.004990	1	0
BMPER	168667	broad.mit.edu	37	7	34118587	34118587	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:34118587G>A	ENST00000297161.2	+	13	1571	c.1197G>A	c.(1195-1197)tcG>tcA	p.S399S	BMPER_ENST00000426693.1_Silent_p.S399S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	399	VWFD.				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		p.S399S(1)		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						CCCCTGCCTCGCCCTTCCAGG	0.582000													48	292					0	0	0.014410	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													4	45					0	0	0.009096	0	0
TRIM65	201292	broad.mit.edu	37	17	73887248	73887248	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:73887248C>A	ENST00000269383.3	-	6	1231	c.1166G>T	c.(1165-1167)cGc>cTc	p.R389L		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	389	B30.2/SPRY.					intracellular	zinc ion binding	p.R389L(1)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTCTGACGCGCGCACCTCCCA	0.687000													15	82					0.00400662	0.0042686	0.028581	1	0
ICA1L	130026	broad.mit.edu	37	2	203686132	203686132	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:203686132C>T	ENST00000392237.2	-	5	465	c.308G>A	c.(307-309)gGc>gAc	p.G103D	ICA1L_ENST00000418208.1_Intron|ICA1L_ENST00000358299.2_Missense_Mutation_p.G103D|ICA1L_ENST00000425178.1_Missense_Mutation_p.G103D	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	103	AH.							p.G103D(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCATTTTGCCAGCTTGAGT	0.383000													31	110					0	0	0.013726	0	0
CD1A	909	broad.mit.edu	37	1	158226831	158226831	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:158226831G>T	ENST00000289429.5	+	4	1393	c.860G>T	c.(859-861)gGc>gTc	p.G287V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	287	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.G287V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AGTCTAGAGGGCCAGGACATC	0.592000													32	72					2.49991e-28	4.32798e-28	0.015359	1	0
EML3	256364	broad.mit.edu	37	11	62373360	62373360	+	Silent	SNP	T	T	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:62373360T>C	ENST00000394773.2	-	14	2056	c.1749A>G	c.(1747-1749)ggA>ggG	p.G583G	EML3_ENST00000494176.2_Silent_p.G555G|EML3_ENST00000531557.1_Silent_p.G366G|EML3_ENST00000278845.4_Silent_p.G584G|EML3_ENST00000529309.1_Silent_p.G583G	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	583						cytoplasm|microtubule	protein binding	p.G583G(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGGCCAGGTCTCCCCTCAGCA	0.612000													34	118					0	0	0.019004	0	0
FES	2242	broad.mit.edu	37	15	91434895	91434895	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:91434895G>A	ENST00000328850.3	+	12	1784	c.1642G>A	c.(1642-1644)Gct>Act	p.A548T	FES_ENST00000394302.1_Missense_Mutation_p.A420T|FES_ENST00000450438.2_Missense_Mutation_p.A420T|FES_ENST00000394300.3_Missense_Mutation_p.A490T|FES_ENST00000444422.2_Missense_Mutation_p.A478T|FES_ENST00000414248.2_Missense_Mutation_p.A420T	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	548	SH2.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A548T(1)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTGCACAGGGCTGTGCCCAA	0.622000													4	111					0	0	0.009096	0	0
ZNF680	340252	broad.mit.edu	37	7	63982254	63982254	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:63982254G>A	ENST00000309683.6	-	4	1029	c.878C>T	c.(877-879)cCt>cTt	p.P293L		NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P293L(1)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ACATTTGTAAGGTTTGTCTCC	0.348000													4	39					0	0	0.009096	0	0
NFAT5	10725	broad.mit.edu	37	16	69726307	69726307	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:69726307G>T	ENST00000349945.1	+	14	3849	c.2297G>T	c.(2296-2298)aGc>aTc	p.S766I	NFAT5_ENST00000393742.2_Missense_Mutation_p.S766I|NFAT5_ENST00000354436.2_Missense_Mutation_p.S842I|NFAT5_ENST00000567239.1_Missense_Mutation_p.S859I|NFAT5_ENST00000566899.1_Missense_Mutation_p.S766I|NFAT5_ENST00000432919.1_Missense_Mutation_p.S860I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	842					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S860I(1)|p.S766I(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGTGGTGTAAGCCCTGGAATG	0.403000													59	150					1.20869e-33	2.1462e-33	0.014410	1	0
MUC16	94025	broad.mit.edu	37	19	9076674	9076674	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:9076674G>T	ENST00000397910.4	-	3	10975	c.10772C>A	c.(10771-10773)tCc>tAc	p.S3591Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3592	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S3591Y(2)		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						GACAGTCCAGGAATCTGATGC	0.483000													22	135					1.85244e-09	2.34304e-09	0.018920	1	0
ORC4	5000	broad.mit.edu	37	2	148715893	148715893	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:148715893C>A	ENST00000535373.1	-	7	793	c.361G>T	c.(361-363)Gaa>Taa	p.E121*	ORC4_ENST00000542387.1_5'UTR|ORC4_ENST00000536575.1_Nonsense_Mutation_p.E37*|ORC4_ENST00000540442.1_Nonsense_Mutation_p.E47*|ORC4_ENST00000392857.4_Nonsense_Mutation_p.E121*|ORC4_ENST00000392858.1_Nonsense_Mutation_p.E121*|ORC4_ENST00000264169.2_Nonsense_Mutation_p.E121*	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	121					cell cycle checkpoint|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	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	p.E121*(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						ACTACATTTTCCAGATTTAAC	0.254000													6	21					8.12818e-05	9.11541e-05	0.001984	1	0
FGF14	2259	broad.mit.edu	37	13	102375188	102375188	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr13:102375188G>T	ENST00000376131.4	-	5	847	c.752C>A	c.(751-753)aCa>aAa	p.T251K	FGF14_ENST00000376143.4_Missense_Mutation_p.T246K|ITGBL1_ENST00000415285.1_Intron	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	246					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T246K(1)|p.T251K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TGGCTATGTTGTCTTACTCTT	0.498000													18	47					1.00905e-13	1.43336e-13	0.008871	1	0
TTN	7273	broad.mit.edu	37	2	179650354	179650354	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:179650354C>G	ENST00000589042.1	-	15	2710	c.2486G>C	c.(2485-2487)gGa>gCa	p.G829A	TTN_ENST00000460472.2_Missense_Mutation_p.G783A|TTN_ENST00000359218.5_Missense_Mutation_p.G783A|TTN_ENST00000342175.6_Missense_Mutation_p.G783A|TTN_ENST00000360870.5_Missense_Mutation_p.G829A|TTN_ENST00000591111.1_Missense_Mutation_p.G829A|TTN_ENST00000342992.6_Missense_Mutation_p.G829A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	829							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G829A(3)|p.G783A(3)		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)			TACCTCATATCCATGTTCTGT	0.413000													19	60					0	0	0.008871	0	0
ARRDC2	27106	broad.mit.edu	37	19	18121164	18121164	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:18121164G>C	ENST00000222250.4	+	6	1152	c.1009G>C	c.(1009-1011)Gag>Cag	p.E337Q	ARRDC2_ENST00000379656.2_Missense_Mutation_p.E332Q	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	337								p.E337Q(1)|p.E332Q(1)		endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GGAGCGGCCTGAGGGTAAGCT	0.647000													3	57					0	0	0.004672	0	0
RETSAT	54884	broad.mit.edu	37	2	85571154	85571154	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:85571154C>A	ENST00000295802.4	-	9	1613	c.1501G>T	c.(1501-1503)Gtc>Ttc	p.V501F	RETSAT_ENST00000475624.2_Intron|RETSAT_ENST00000263854.6_Intron|RETSAT_ENST00000457495.2_Missense_Mutation_p.V440F	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	501					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity	p.V501F(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	AGTTTCAGGACCACTGACATA	0.537000													43	170					8.00217e-19	1.25943e-18	0.014410	1	0
TSG101	7251	broad.mit.edu	37	11	18503191	18503191	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:18503191C>A	ENST00000536719.1	-	9	1203	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	TSG101_ENST00000357193.3_Missense_Mutation_p.D252Y|TSG101_ENST00000251968.3_Missense_Mutation_p.D357Y			Q99816	TS101_HUMAN	tumor susceptibility 101	357	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding	p.D357Y(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGAAGACATCCAGGTCTATC	0.403000													25	76					9.57634e-11	1.28147e-10	0.018920	1	0
C14orf28	122525	broad.mit.edu	37	14	45373686	45373686	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:45373686G>A	ENST00000325192.3	+	4	978	c.703G>A	c.(703-705)Gaa>Aaa	p.E235K	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.E205K|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	235								p.E235K(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTGGAAATCTGAAGATCTGGC	0.348000													6	101					0	0	0.021553	0	0
HPS4	89781	broad.mit.edu	37	22	26860631	26860631	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:26860631C>A	ENST00000398145.2	-	11	1581	c.965G>T	c.(964-966)aGg>aTg	p.R322M	HPS4_ENST00000398141.1_Missense_Mutation_p.R335M|HPS4_ENST00000336873.5_Missense_Mutation_p.R322M|HPS4_ENST00000402105.3_Missense_Mutation_p.R317M	NM_022081.4	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	322					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	p.R335M(1)|p.R322M(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GTTCTCCTTCCTGCCATCTGG	0.587000									Hermansky-Pudlak syndrome				21	87					2.44723e-14	3.54913e-14	0.024334	1	0
CYP24A1	1591	broad.mit.edu	37	20	52781004	52781004	+	Silent	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr20:52781004G>T	ENST00000216862.3	-	6	1224	c.831C>A	c.(829-831)acC>acA	p.T277T	CYP24A1_ENST00000395955.3_Silent_p.T277T|CYP24A1_ENST00000395954.3_Silent_p.T135T	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	277					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	p.T277T(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	ATTTGAAAATGGTGTCCCAGG	0.567000													40	131					2.05212e-20	3.32419e-20	0.023175	1	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726670	32726670	+	Missense_Mutation	SNP	T	T	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:32726670T>G	ENST00000435145.2	-	3	664	c.603A>C	c.(601-603)caA>caC	p.Q201H	HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.Q201H|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.Q201H			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	201					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		p.Q201H(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						GGTGCTCCACTTGGCAGGTGT	0.557000													4	51					0	0	0.021553	0	0
BTNL2	56244	broad.mit.edu	37	6	32370728	32370728	+	Silent	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:32370728C>A	ENST00000454136.3	-	3	697	c.693G>T	c.(691-693)tcG>tcT	p.S231S	BTNL2_ENST00000374993.1_Silent_p.S231S|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000540315.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	231	Ig-like V-type 2.					integral to membrane		p.S231S(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						GGCTGATGACCGACCCCTTCT	0.582000													13	22					1.49906e-05	1.71587e-05	0.020292	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299021	125299021	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:125299021G>T	ENST00000538699.1	-	2	967	c.887C>A	c.(886-888)tCc>tAc	p.S296Y	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.S296Y	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	296								p.S296Y(2)		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						CAGGAGCCTGGATAGTGTGCT	0.612000													46	82					4.48484e-38	8.282e-38	0.014410	1	0
CSMD2	114784	broad.mit.edu	37	1	34286094	34286094	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:34286094C>T	ENST00000373381.4	-	8	1351	c.1175G>A	c.(1174-1176)gGc>gAc	p.G392D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	352	Sushi 2.					integral to membrane|plasma membrane	protein binding	p.G352D(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TAGTCTTTTGCCCCTTTCGGG	0.463000													5	352					0	0	0.021553	0	0
ABCC9	10060	broad.mit.edu	37	12	22012531	22012531	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:22012531T>C	ENST00000261200.4	-	20	2493	c.2494A>G	c.(2494-2496)Att>Gtt	p.I832V	ABCC9_ENST00000261201.4_Missense_Mutation_p.I832V|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.I796V	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	832	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.I832V(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAAGACAATGTTGGTGTTT	0.423000													38	120					0	0	0.025465	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179820234	179820234	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:179820234C>A	ENST00000367612.3	-	4	686	c.299G>T	c.(298-300)gGg>gTg	p.G100V		NM_001199260.1|NM_145034.4	NP_001186189.1|NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	100						endoplasmic reticulum membrane|integral to membrane	protein binding	p.G100V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GAGGTGATGCCCTTTTCCGCC	0.458000													43	105					4.16155e-14	5.97279e-14	0.008740	1	0
TLR9	54106	broad.mit.edu	37	3	52257313	52257313	+	Nonstop_Mutation	SNP	T	T	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:52257313T>G	ENST00000494383.1	-	5	1478	c.1479A>C	c.(1477-1479)taA>taC	p.*493Y	TLR9_ENST00000360658.2_Missense_Mutation_p.N340T|TLR9_ENST00000597542.1_Missense_Mutation_p.N364T			Q9NR96	TLR9_HUMAN	toll-like receptor 9	0					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.N340T(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAAGGACAGGTTAAGCTTGCG	0.557000													24	104					0	0	0.006320	0	0
LCT	3938	broad.mit.edu	37	2	136566318	136566318	+	Missense_Mutation	SNP	G	G	C	rs148317168		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:136566318G>C	ENST00000264162.2	-	8	3609	c.3599C>G	c.(3598-3600)aCg>aGg	p.T1200R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1200	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.T1200R(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GACGTCGGCCGTCGCCCTGAT	0.557000													39	174					0	0	0.007835	0	0
C17orf85	55421	broad.mit.edu	37	17	3721736	3721736	+	Silent	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:3721736G>C	ENST00000158149.3	-	11	1186	c.291C>G	c.(289-291)ctC>ctG	p.L97L	C17orf85_ENST00000389005.4_Silent_p.L377L			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	377							nucleotide binding	p.L97L(1)|p.L377L(1)		endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		TGAGAGCCGGGAGCTCCTCGT	0.542000													27	104					0	0	0.010818	0	0
CPT1B	1375	broad.mit.edu	37	22	51012810	51012810	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr22:51012810C>T	ENST00000360719.2	-	9	1061	c.924G>A	c.(922-924)caG>caA	p.Q308Q	CPT1B_ENST00000312108.7_Silent_p.Q308Q|CPT1B_ENST00000395650.2_Silent_p.Q308Q|CPT1B_ENST00000434492.2_Silent_p.Q105Q|CPT1B_ENST00000457250.1_Silent_p.Q274Q|CPT1B_ENST00000405237.3_Silent_p.Q308Q|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000440709.1_Silent_p.Q308Q	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	308					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.Q308Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		TCCTCTCCATCTGGTAGGAGC	0.612000													6	33					0	0	0.021553	0	0
ZNF512	84450	broad.mit.edu	37	2	27844189	27844189	+	Missense_Mutation	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:27844189G>C	ENST00000355467.4	+	14	1648	c.1565G>C	c.(1564-1566)aGa>aCa	p.R522T	ZNF512_ENST00000379717.1_Missense_Mutation_p.R521T|ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Missense_Mutation_p.R445T|ZNF512_ENST00000416005.2_Missense_Mutation_p.R493T			Q96ME7	ZN512_HUMAN	zinc finger protein 512	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R522T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					CTGAGTCTTAGAGTAGGGAAG	0.532000													3	102					0	0	0.004672	0	0
LSM14A	26065	broad.mit.edu	37	19	34706112	34706112	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:34706112G>T	ENST00000544216.3	+	5	699	c.622G>T	c.(622-624)Gct>Tct	p.A208S	LSM14A_ENST00000433627.5_Missense_Mutation_p.A208S|LSM14A_ENST00000540746.2_Missense_Mutation_p.A167S	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	208					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.A208S(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CCACTTACCTGCTCCAGCAGC	0.527000													20	59					8.04996e-18	1.23195e-17	0.012319	1	0
ZNF665	79788	broad.mit.edu	37	19	53678823	53678823	+	Splice_Site	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:53678823C>A	ENST00000396424.3	-	3	106	c.15_splice	c.e3-1	p.G6_splice	ZNF665_ENST00000600412.1_Intron	NM_024733.3	NP_079009.3	Q9H7R5	ZN665_HUMAN	zinc finger protein 665	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G6V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TGTCAACTGTCCCTAAAATGA	0.418000													26	121					1.39806e-14	2.03822e-14	0.008361	1	0
DCAF12L2	340578	broad.mit.edu	37	X	125299047	125299047	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:125299047G>T	ENST00000538699.1	-	2	941	c.861C>A	c.(859-861)caC>caA	p.H287Q	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.H287Q	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	287								p.H287Q(2)		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						CTTTCCACAGGTGGAAGTAGC	0.617000													43	82					1.0331e-37	1.89515e-37	0.014410	1	0
ZNF454	285676	broad.mit.edu	37	5	178392687	178392687	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:178392687G>T	ENST00000320129.3	+	5	1585	c.1282G>T	c.(1282-1284)Gcc>Tcc	p.A428S	ZNF454_ENST00000519564.1_Missense_Mutation_p.A428S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A428S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATCAGCACTAGCCCAACATCA	0.423000													16	86					2.32078e-09	2.90886e-09	0.024245	1	0
GABRG3	2567	broad.mit.edu	37	15	27765182	27765182	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:27765182G>A	ENST00000333743.6	+	7	1031	c.777G>A	c.(775-777)caG>caA	p.Q259Q	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	259					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.Q259Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		TCACCATTCAGACATACATTC	0.343000													3	8					0	0	0.009096	0	0
UBR7	55148	broad.mit.edu	37	14	93686679	93686679	+	Nonsense_Mutation	SNP	C	C	T	rs147191980		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr14:93686679C>T	ENST00000013070.6	+	9	1281	c.1045C>T	c.(1045-1047)Cag>Tag	p.Q349*	UBR7_ENST00000416753.1_Nonsense_Mutation_p.Q273*	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	349							ubiquitin-protein ligase activity|zinc ion binding	p.Q349*(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GAAGATTGCCCAGGCCACTGA	0.418000													32	138					0	0	0.019004	0	0
EGFR	1956	broad.mit.edu	37	7	55249071	55249071	+	Missense_Mutation	SNP	C	C	T	rs121434569		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:55249071C>T	ENST00000275493.2	+	20	2546	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	EGFR_ENST00000454757.2_Missense_Mutation_p.T737M|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.T745M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	790	Protein kinase.		T -> M (found in a lung cancer sample; increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T790M(109)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTCATCACGCAGCTCATG	0.602000	T790M(NCIH1975_LUNG)	8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			109	100					0	0	0.014410	0	0
TRIM27	5987	broad.mit.edu	37	6	28872311	28872311	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr6:28872311C>A	ENST00000377199.3	-	8	1434	c.1078G>T	c.(1078-1080)Gtc>Ttc	p.V360F	TRIM27_ENST00000377194.3_Intron	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	360	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	p.V360F(1)		endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GAGCCCAAGACACAGGGAAAC	0.537000			T	RET	papillary thyroid								26	55					2.47511e-08	3.00704e-08	0.008361	1	0
SIGLEC9	27180	broad.mit.edu	37	19	51628373	51628373	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:51628373C>A	ENST00000440804.3	+	1	209	c.142C>A	c.(142-144)Cat>Aat	p.H48N	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.H48N	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	48	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.H48N(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTACCCCTCGCATGGCTGGAT	0.582000													18	59					1.9806e-07	2.38533e-07	0.014323	1	0
CACNA1E	777	broad.mit.edu	37	1	181745281	181745281	+	Nonsense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:181745281C>A	ENST00000526775.1	+	37	5292	c.5127C>A	c.(5125-5127)taC>taA	p.Y1709*	CACNA1E_ENST00000358338.5_Nonsense_Mutation_p.Y1660*|CACNA1E_ENST00000367570.1_Nonsense_Mutation_p.Y1728*|CACNA1E_ENST00000367573.2_Nonsense_Mutation_p.Y1728*|CACNA1E_ENST00000367567.4_Nonsense_Mutation_p.Y1335*|CACNA1E_ENST00000360108.3_Nonsense_Mutation_p.Y1709*|CACNA1E_ENST00000357570.5_Nonsense_Mutation_p.Y1679*	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1728					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.Y1728*(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTTTGAGTACCTGACTCGGG	0.567000													40	252					9.9191e-30	1.73898e-29	0.008740	1	0
PLEKHA6	22874	broad.mit.edu	37	1	204237400	204237400	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:204237400C>T	ENST00000272203.3	-	4	459	c.143G>A	c.(142-144)cGc>cAc	p.R48H	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R48H	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	48								p.R48H(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGAGTGTGAGCGCTTGCCAAA	0.612000													25	57					0	0	0.024334	0	0
DACH1	1602	broad.mit.edu	37	13	72440283	72440283	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr13:72440283C>T	ENST00000305425.4	-	1	1047	c.625G>A	c.(625-627)Gag>Aag	p.E209K	DACH1_ENST00000354591.4_Missense_Mutation_p.E209K|DACH1_ENST00000359684.2_Missense_Mutation_p.E209K|DACH1_ENST00000313174.7_Missense_Mutation_p.E209K	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	207	DACHbox-N.|Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.E209K(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CAGATCAGCTCGCAGCCCTCC	0.587000													20	56					0	0	0.016522	0	0
URGCP	55665	broad.mit.edu	37	7	43917045	43917045	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:43917045G>A	ENST00000336086.6	-	4	4124	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	URGCP_ENST00000447717.3_Missense_Mutation_p.R630C|URGCP_ENST00000223341.7_Missense_Mutation_p.R630C|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000402306.3_Missense_Mutation_p.R664C|URGCP_ENST00000443736.1_Missense_Mutation_p.R630C|URGCP_ENST00000453200.1_Missense_Mutation_p.R673C|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	673					cell cycle	centrosome|nucleus	GTP binding	p.R673C(1)|p.R630C(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGACCCAGCGGACGGGCATG	0.647000													33	63					0	0	0.017118	0	0
EPHA6	285220	broad.mit.edu	37	3	96706352	96706352	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:96706352G>T	ENST00000389672.5	+	3	667	c.629G>T	c.(628-630)tGg>tTg	p.W210L	EPHA6_ENST00000542517.1_Missense_Mutation_p.W116L|EPHA6_ENST00000470610.2_Missense_Mutation_p.W210L	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	115						integral to plasma membrane	ATP binding|ephrin receptor activity	p.W116L(2)|p.W210L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGCATCCCATGGGTCTTGGGG	0.398000													22	86					1.50039e-11	2.0677e-11	0.012319	1	0
TEX15	56154	broad.mit.edu	37	8	30703484	30703484	+	Missense_Mutation	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:30703484A>T	ENST00000256246.2	-	1	3124	c.3050T>A	c.(3049-3051)cTt>cAt	p.L1017H		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1017								p.L1017H(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTAGTTATAAGCTGCAAAGA	0.338000													29	140					0	0	0.007291	0	0
NOX4	50507	broad.mit.edu	37	11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:89088203G>A	ENST00000535633.1	-	13	1382	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	NOX4_ENST00000263317.4_Nonsense_Mutation_p.R382*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.R382*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAAATCTCGAAATCGTTCT	0.328000													7	42					0	0	0.001984	0	0
RNF165	494470	broad.mit.edu	37	18	44027602	44027602	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr18:44027602C>A	ENST00000269439.7	+	4	613	c.562C>A	c.(562-564)Cta>Ata	p.L188I	RNF165_ENST00000543885.1_5'UTR	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	188							zinc ion binding	p.L188I(1)		NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		TCAGCATTACCTAGCCACTCC	0.547000													42	104					2.35958e-20	3.80003e-20	0.009718	1	0
MYO19	80179	broad.mit.edu	37	17	34883509	34883509	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:34883509C>A	ENST00000431794.3	-	5	695	c.173G>T	c.(172-174)cGg>cTg	p.R58L	MYO19_ENST00000544606.1_Intron|MYO19_ENST00000586007.1_Missense_Mutation_p.R58L|MYO19_ENST00000268852.9_Missense_Mutation_p.R58L	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	58	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.R58L(2)		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)		TGCCATGTACCGGGCCTGCAG	0.517000													11	37					6.40141e-05	7.20809e-05	0.010729	1	0
XIST	7503	broad.mit.edu	37	X	73064626	73064626	+	RNA	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:73064626G>T	ENST00000429829.1	-	0	7962					NR_001564.2																						GCCTTATTCAGATGAGATAGG	0.458000													20	39					1.10513e-12	1.54607e-12	0.014323	1	0
PRKCA	5578	broad.mit.edu	37	17	64785040	64785040	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr17:64785040G>T	ENST00000413366.3	+	16	1823	c.1797G>T	c.(1795-1797)agG>agT	p.R599S		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	599	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R599I(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TCTTCCGGAGGATCGACTGGG	0.567000													28	102					1.7881e-09	2.27204e-09	0.008361	1	0
KIAA1045	23349	broad.mit.edu	37	9	34977191	34977191	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr9:34977191C>A	ENST00000242315.3	+	6	1043	c.961C>A	c.(961-963)Cac>Aac	p.H321N	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.H321N	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	321							calcium ion binding	p.H321N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGGGCCCAGCACTCTTGGTT	0.637000													35	72					4.44401e-20	7.07466e-20	0.010771	1	0
DCAF4L2	138009	broad.mit.edu	37	8	88885425	88885425	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr8:88885425C>A	ENST00000319675.3	-	1	871	c.775G>T	c.(775-777)Ggc>Tgc	p.G259C		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	259								p.G259C(1)		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						CACCCGCTGCCTTGATTTCCA	0.507000													24	80					5.35356e-11	7.19872e-11	0.016522	1	0
OR5B3	441608	broad.mit.edu	37	11	58170034	58170034	+	Silent	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:58170034C>A	ENST00000309403.2	-	1	848	c.849G>T	c.(847-849)ctG>ctT	p.L283L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L283L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCAGAGGGTTCAGCATGGGGA	0.428000													12	81					3.01185e-09	3.74117e-09	0.021523	1	0
CASR	846	broad.mit.edu	37	3	122002643	122002643	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr3:122002643C>T	ENST00000498619.1	+	7	2310	c.1872C>T	c.(1870-1872)atC>atT	p.I624I	CASR_ENST00000490131.1_Silent_p.I614I|CASR_ENST00000296154.5_Silent_p.I614I	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	614					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	p.I614I(1)		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)	CCTTTGGGATCGCACTCACCC	0.537000													24	90					0	0	0.014323	0	0
TAF4	6874	broad.mit.edu	37	20	60575636	60575636	+	Silent	SNP	C	C	A	rs149271691	byFrequency	TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr20:60575636C>A	ENST00000252996.3	-	10	2627	c.2628G>T	c.(2626-2628)gcG>gcT	p.A876A	TAF4_ENST00000488539.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	876					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.A876A(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TCTGCAAAGGCGCTTGGAGGA	0.458000													41	179					5.20006e-24	8.89146e-24	0.011902	1	0
KCNA4	3739	broad.mit.edu	37	11	30033104	30033104	+	Silent	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:30033104C>A	ENST00000328224.6	-	2	2355	c.1122G>T	c.(1120-1122)gtG>gtT	p.V374V		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	374						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.E375*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGACTGTTTCCACGATGAAGA	0.463000													35	112					4.65686e-17	7.0106e-17	0.017118	1	0
TTC30B	150737	broad.mit.edu	37	2	178417000	178417000	+	Silent	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:178417000G>C	ENST00000408939.2	-	1	742	c.492C>G	c.(490-492)ctC>ctG	p.L164L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B	164					cell projection organization	cilium	binding	p.L164L(1)		cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCTCCTTGTAGAGCAAACAAC	0.582000													13	444					0	0	0.016723	0	0
GABRA5	2558	broad.mit.edu	37	15	27128544	27128544	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:27128544G>T	ENST00000335625.5	+	6	1225	c.337G>T	c.(337-339)Ggg>Tgg	p.G113W	GABRA5_ENST00000400081.3_Missense_Mutation_p.G113W|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.G113W|GABRA5_ENST00000557449.1_Intron	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	113					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	p.G113W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCGGTTTAAGGGGCCCATGCA	0.542000													36	84					1.57019e-19	2.48539e-19	0.007835	1	0
KRTAP10-4	386672	broad.mit.edu	37	21	45993646	45993646	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr21:45993646G>A	ENST00000400374.3	+	1	41	c.11G>A	c.(10-12)tGc>tAc	p.C4Y	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	4						keratin filament		p.C4Y(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						ATGTCCGTCTGCTCCAGCGAC	0.632000													21	86					0	0	0.012319	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939237	2939237	+	Silent	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:2939237C>A	ENST00000378404.2	+	1	1192	c.987C>A	c.(985-987)atC>atA	p.I329I		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	329						cytoplasm|cytoskeleton		p.I329I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACACCCCCATCAAGATCACGG	0.622000													25	78					3.78316e-11	5.16224e-11	0.025465	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182645	140182645	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:140182645G>A	ENST00000522353.2	+	1	1863	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.P621P|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1												p.P621P(2)		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)			CGCGCATCCCGTTTCGCGTGG	0.667000													16	79					0	0	0.004990	0	0
FKBP6	8468	broad.mit.edu	37	7	72744332	72744332	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:72744332G>T	ENST00000252037.4	+	4	514	c.445G>T	c.(445-447)Gac>Tac	p.D149Y	FKBP6_ENST00000413573.2_Missense_Mutation_p.D119Y|FKBP6_ENST00000431982.2_Missense_Mutation_p.D144Y	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	149					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.D149Y(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGCTGAGTCAGACAAGTTTTG	0.493000													46	47					1.08114e-33	1.9321e-33	0.014410	1	0
ZNF778	197320	broad.mit.edu	37	16	89294225	89294225	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr16:89294225G>T	ENST00000433976.2	+	6	1777	c.1445G>T	c.(1444-1446)tGt>tTt	p.C482F	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Missense_Mutation_p.C440F	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	482					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C482F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		TGTAAGCAGTGTGGCAAAGCC	0.493000													12	66					9.05144e-12	1.25362e-11	0.016723	1	0
LRP1B	53353	broad.mit.edu	37	2	141751656	141751656	+	Missense_Mutation	SNP	C	C	G			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:141751656C>G	ENST00000389484.3	-	16	3523	c.2552G>C	c.(2551-2553)cGc>cCc	p.R851P		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	851	LDL-receptor class A 3.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R851P(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTTTTTGCAGCGAAACTCTCC	0.438000										TSP Lung(27;0.18)			19	90					0	0	0.010504	0	0
USH1C	10083	broad.mit.edu	37	11	17527437	17527437	+	Silent	SNP	A	A	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:17527437A>T	ENST00000005226.7	-	19	2072	c.2073T>A	c.(2071-2073)ccT>ccA	p.P691P	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	p.P691P(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGACCATGACAGGTTTGGAGA	0.547000													12	53					0	0	0.016723	0	0
NLRP14	338323	broad.mit.edu	37	11	7059986	7059986	+	Missense_Mutation	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr11:7059986G>T	ENST00000299481.4	+	2	515	c.169G>T	c.(169-171)Gac>Tac	p.D57Y		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	57	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	p.D57Y(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		CAGGCGGGAGGACCTGGCCAA	0.453000													13	78					0.000219431	0.00024313	0.020292	1	0
COL11A1	1301	broad.mit.edu	37	1	103352528	103352528	+	Missense_Mutation	SNP	C	C	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:103352528C>A	ENST00000358392.2	-	63	5046	c.4729G>T	c.(4729-4731)Gca>Tca	p.A1577S	COL11A1_ENST00000370096.3_Missense_Mutation_p.A1565S|COL11A1_ENST00000353414.4_Missense_Mutation_p.A1526S|COL11A1_ENST00000512756.1_Missense_Mutation_p.A1449S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1565	Fibrillar collagen NC1.				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	p.A1565S(1)|p.A1577S(1)		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)		TTATCATCTGCATCTGCTTGC	0.393000													16	92					1.5739e-10	2.08598e-10	0.028581	1	0
CCDC33	80125	broad.mit.edu	37	15	74559018	74559018	+	Splice_Site	SNP	G	G	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr15:74559018G>C	ENST00000321288.5	+	6	928		c.e6-1		CCDC33_ENST00000398814.3_Splice_Site			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33								protein binding	p.?(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTCTTTCCAGATGTGATCCT	0.448000													38	177					0	0	0.008740	0	0
VEGFC	7424	broad.mit.edu	37	4	177608435	177608435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr4:177608435G>A	ENST00000280193.2	-	6	1466	c.1051C>T	c.(1051-1053)Caa>Taa	p.Q351*	RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420.1	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	351	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.Q351*(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		TTTAGGGGTTGATTTCTGGGG	0.428000													166	258					0	0	0.014410	0	0
NLRP4	147945	broad.mit.edu	37	19	56363727	56363727	+	Splice_Site	SNP	G	G	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:56363727G>T	ENST00000301295.6	+	2	702		c.e2+1		NLRP4_ENST00000346986.5_Splice_Site	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4								ATP binding	p.?(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAGAGAACAGGTGAGGGAGTC	0.438000													17	88					6.94344e-10	8.90432e-10	0.006122	1	0
ELTD1	64123	broad.mit.edu	37	1	79357333	79357333	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:79357333G>A	ENST00000370742.3	-	14	1949	c.1886C>T	c.(1885-1887)aCc>aTc	p.T629I		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	629					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.T629I(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		GATCCAGGTGGTGCCGAGAAG	0.463000													7	33					0	0	0.006214	0	0
NGEF	25791	broad.mit.edu	37	2	233785096	233785096	+	Silent	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:233785096G>A	ENST00000264051.3	-	5	1004	c.726C>T	c.(724-726)ctC>ctT	p.L242L	NGEF_ENST00000409079.1_Silent_p.L150L|NGEF_ENST00000373552.4_Silent_p.L150L	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	242	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|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	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.L242L(2)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GGGGGTTACTGAGCAGGCAGA	0.617000													6	90					0	0	0.021553	0	0
RTN2	6253	broad.mit.edu	37	19	45992753	45992753	+	Silent	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr19:45992753C>T	ENST00000590526.1	-	6	1396	c.270G>A	c.(268-270)ctG>ctA	p.L90L	RTN2_ENST00000344680.4_Silent_p.L291L|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000245923.4_Silent_p.L364L|RTN2_ENST00000430715.2_Silent_p.L24L			O75298	RTN2_HUMAN	reticulon 2	364						integral to endoplasmic reticulum membrane	signal transducer activity	p.L364L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGAGACCATCAGGCCTGTGA	0.617000													9	15					0	0	0.004482	0	0
TMEM9	252839	broad.mit.edu	37	1	201120964	201120964	+	Missense_Mutation	SNP	C	C	T			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:201120964C>T	ENST00000367330.1	-	2	599	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	TMEM9_ENST00000367334.5_Missense_Mutation_p.R28Q|TMEM9_ENST00000367333.1_Missense_Mutation_p.R31Q|TMEM9_ENST00000367332.1_Missense_Mutation_p.R31Q|TMEM9_ENST00000367329.1_Missense_Mutation_p.R28Q			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	28					transport	integral to membrane|late endosome membrane|lysosomal membrane		p.R28Q(1)		liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				GCATTTGCACCGGATATCTTC	0.488000													13	212					0	0	0.028581	0	0
GIMAP8	155038	broad.mit.edu	37	7	150164352	150164352	+	Missense_Mutation	SNP	T	T	C			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:150164352T>C	ENST00000307271.3	+	2	1140	c.566T>C	c.(565-567)gTt>gCt	p.V189A		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	189						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding	p.V189A(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)		CTTCGCAAGGTTGAGTCTTTG	0.428000													30	228					0	0	0.012213	0	0
THADA	63892	broad.mit.edu	37	2	43801837	43801837	+	Missense_Mutation	SNP	G	G	A			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr2:43801837G>A	ENST00000403856.1	-	12	1514	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	THADA_ENST00000415080.2_Missense_Mutation_p.T166M|THADA_ENST00000405975.2_Missense_Mutation_p.T456M|THADA_ENST00000405006.4_Missense_Mutation_p.T456M|THADA_ENST00000330266.7_Missense_Mutation_p.T166M|THADA_ENST00000402360.2_Missense_Mutation_p.T456M|THADA_ENST00000404790.1_Missense_Mutation_p.T456M			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	456							binding	p.T456M(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				ACCAAGGCACGTGTACTTTCC	0.418000													31	98					0	0	0.012213	0	0
PVRL4	81607	broad.mit.edu	37	1	161049685	161049685	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr1:161049685delC	ENST00000368012.3	-	2	436	c.134delG	c.(133-135)gcfs	p.G45fs		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	45	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TGCGTCCTGGCCCAGCACCAC	0.677													24	124	---	---	---	---					
GZMK	3003	broad.mit.edu	37	5	54320167	54320167	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr5:54320167delC	ENST00000231009.2	+	1	87	c.17delC	c.(16-18)tcfs	p.S6fs	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596909.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	6					proteolysis	extracellular region	serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AAGTTTTCTTCCTTTTCTCTG	0.318													19	45	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													4	8	---	---	---	---					
OR2A5	393046	broad.mit.edu	37	7	143748258	143748258	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:143748258delC	ENST00000408906.2	+	1	798	c.764delC	c.(763-765)gcfs	p.A255fs		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	255			A -> T (in dbSNP:rs6464574).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TTTGGCAGCGCCATTGTCATG	0.587													138	152	---	---	---	---					
SSPO	23145	broad.mit.edu	37	7	149503917	149503920	+	RNA	DEL	GATA	GATA	-	rs72359812		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr7:149503917_149503920delGATA	ENST00000378016.2	+	0	8745							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)			AGGGCCCCGGGATAGATAGAGTGT	0.652													5	6	---	---	---	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs66529359	by1000genomes	TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tac>ta	p.YGSGGSSY552del		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													5	9	---	---	---	---					
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													3	6	---	---	---	---					
ZNF521	25925	broad.mit.edu	37	18	22902131	22902131	+	Frame_Shift_Del	DEL	C	C	-	rs7235917		TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chr18:22902131delC	ENST00000361524.3	-	3	209	c.61delG	c.(61-63)acfs	p.D21fs	ZNF521_ENST00000584787.1_5'UTR|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000538137.2_Frame_Shift_Del_p.D21fs	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	21					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)					TCAGTCTTGTCTTCAAGTTTA	0.433			T	PAX5	ALL								30	163	---	---	---	---					
MAGEA3	4102	broad.mit.edu	37	X	151935379	151935379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-49-4494-01A-01D-1265-08	TCGA-49-4494-11A-01D-1265-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	136bc973-1908-4767-9b22-d43d522b7c71	417cd2e0-404a-4820-be10-b02d26fe89fd	g.chrX:151935379delC	ENST00000393902.3	-	3	1355	c.788delG	c.(787-789)gcfs	p.G263fs	MAGEA3_ENST00000370278.3_Frame_Shift_Del_p.G263fs			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	263	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATCACTGCCGGGGACCTG	0.527													39	92	---	---	---	---