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
PSAP	5660	broad.mit.edu	37	10	73587857	73587857	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:73587857C>G	ENST00000394936.3	-	6	781	c.634G>C	c.(634-636)Gta>Cta	p.V212L	PSAP_ENST00000394934.1_Missense_Mutation_p.V212L			P07602	SAP_HUMAN	prosaposin	212	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTGGTCCGTACAGCAGTCTGG	0.532000													31	57					0	0	0.002836	0	0
ZNF14	7561	broad.mit.edu	37	19	19824913	19824913	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:19824913C>A	ENST00000344099.3	-	3	316	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CGATTTTTCCCCTGGTTTCTG	0.363000													27	23					3.11337e-16	4.49044e-16	0.002836	1	0
SMG8	55181	broad.mit.edu	37	17	57288786	57288786	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr17:57288786G>A	ENST00000543872.2	+	2	1638	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	SMG8_ENST00000300917.5_Silent_p.V458V|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.V458V			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	458					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGTATGAGGTGGCTATTGATG	0.433000													40	53					0	0	0.008740	0	0
PPP6R2	9701	broad.mit.edu	37	22	50832508	50832508	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr22:50832508G>A	ENST00000359139.3	+	3	565	c.171G>A	c.(169-171)ctG>ctA	p.L57L	PPP6R2_ENST00000395741.3_Silent_p.L57L|PPP6R2_ENST00000216061.5_Silent_p.L57L|PPP6R2_ENST00000395744.3_Silent_p.L57L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	57						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGGAGGAGCTGGTGAGCCTCA	0.557000													22	111					0	0	0.002299	0	0
ZNF816	125893	broad.mit.edu	37	19	53459279	53459279	+	Splice_Site	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:53459279C>A	ENST00000357666.4	-	3	364		c.e3+1		ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000535506.1_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000391786.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATATCACTTACCTGAGGAAGA	0.433000													36	71					6.90743e-12	9.14218e-12	0.003755	1	0
SERPINA3	12	broad.mit.edu	37	14	95090116	95090116	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:95090116T>C	ENST00000553947.1	+	8	2200	c.1312T>C	c.(1312-1314)Ttc>Ctc	p.F438L	SERPINA3_ENST00000393080.4_Missense_Mutation_p.F413L|SERPINA3_ENST00000467132.1_Missense_Mutation_p.F413L|SERPINA3_ENST00000482740.1_Missense_Mutation_p.F195L|SERPINA3_ENST00000393078.3_Missense_Mutation_p.F413L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	413					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACATCTTCTTCATGAGCAA	0.498000													4	109					0	0	0.000602	0	0
MUC17	140453	broad.mit.edu	37	7	100676675	100676675	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:100676675G>T	ENST00000306151.4	+	3	2042	c.1978G>T	c.(1978-1980)Gtg>Ttg	p.V660L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	660	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACACTCCTGTGACCACTTC	0.468000													106	492					9.06123e-46	1.58045e-45	0.003610	1	0
SLC4A7	9497	broad.mit.edu	37	3	27442272	27442272	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:27442272T>A	ENST00000295736.5	-	16	2453	c.2383A>T	c.(2383-2385)Aga>Tga	p.R795*	SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R671*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R804*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R787*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R680*|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R791*|SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.R345*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R791*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	795						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTAAGATTTCTCCAGGAAATA	0.328000													52	49					0	0	0.003610	0	0
OR2D3	120775	broad.mit.edu	37	11	6942999	6942999	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:6942999C>T	ENST00000317834.3	+	1	795	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTTTTTCCACCTGTGGCTCC	0.453000													5	43					0	0	0.000602	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684273	75684273	+	Nonsense_Mutation	SNP	G	G	T	rs148196192		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:75684273G>T	ENST00000370855.5	-	17	1544	c.1431C>A	c.(1429-1431)tgC>tgA	p.C477*	SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.C347*|SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.C477*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438000													19	123					1.01871e-10	1.3173e-10	0.008871	1	0
PAX6	5080	broad.mit.edu	37	11	31823152	31823152	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:31823152C>A	ENST00000419022.1	-	7	824	c.356G>T	c.(355-357)aGa>aTa	p.R119I	PAX6_ENST00000379115.4_Missense_Mutation_p.R119I|PAX6_ENST00000379132.3_Missense_Mutation_p.R105I|PAX6_ENST00000379107.2_Missense_Mutation_p.R119I|PAX6_ENST00000379129.2_Missense_Mutation_p.R119I|PAX6_ENST00000379111.2_Missense_Mutation_p.R105I|PAX6_ENST00000379123.5_Missense_Mutation_p.R105I|PAX6_ENST00000241001.8_Missense_Mutation_p.R105I	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	105	Paired.		S -> R (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGACAGTAATCTGTCTCGGAT	0.502000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				15	52					2.23348e-06	2.61736e-06	0.004007	1	0
LRRCC1	85444	broad.mit.edu	37	8	86035739	86035739	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr8:86035739A>C	ENST00000414626.2	+	6	1851	c.962A>C	c.(961-963)aAa>aCa	p.K321T	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K341T			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	341					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGAAACAGAAAAGAATGCAAT	0.323000													20	144					0	0	0.008871	0	0
CDK8	1024	broad.mit.edu	37	13	26974666	26974666	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr13:26974666A>T	ENST00000381527.3	+	10	1513	c.1010A>T	c.(1009-1011)gAa>gTa	p.E337V	CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TATTTCTTAGAAGACCCACTT	0.423000													47	33					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70972618	70972618	+	Silent	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr16:70972618A>T	ENST00000393567.2	-	44	7044	c.6894T>A	c.(6892-6894)cgT>cgA	p.R2298R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2298			R -> G (in dbSNP:rs1774360).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTTTGGAGACGCTCCTTCT	0.537000													13	17					0	0	0.003163	0	0
FOXP1	27086	broad.mit.edu	37	3	71027060	71027060	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:71027060C>A	ENST00000318789.4	-	15	1792	c.1267G>T	c.(1267-1269)Gtc>Ttc	p.V423F	FOXP1_ENST00000468577.1_Missense_Mutation_p.V423F|FOXP1_ENST00000475937.1_Missense_Mutation_p.V423F|FOXP1_ENST00000484350.1_Missense_Mutation_p.V347F|FOXP1_ENST00000491238.1_Missense_Mutation_p.V425F|FOXP1_ENST00000493089.1_Missense_Mutation_p.V423F|FOXP1_ENST00000498215.1_Missense_Mutation_p.V423F	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	423					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTGTGATGACAGAGGGGCCT	0.577000			T	PAX5	ALL								23	74					2.21704e-12	2.98702e-12	0.002780	1	0
ERMARD	55780	broad.mit.edu	37	6	170169675	170169675	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr6:170169675C>G	ENST00000588451.1	+	11	1204	c.691C>G	c.(691-693)Cgc>Ggc	p.R231G	C6orf70_ENST00000366773.3_Missense_Mutation_p.R367G|C6orf70_ENST00000392095.4_Missense_Mutation_p.R241G|C6orf70_ENST00000366772.2_Missense_Mutation_p.R367G|C6orf70_ENST00000418781.3_Missense_Mutation_p.R367G			Q5T6L9	CF070_HUMAN		367						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGAGGGTCCCCGCATAAGAGA	0.408000													12	6					0	0	0.001368	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793497	30793497	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:30793497C>A	ENST00000458257.1	+	2	316	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	INMT_ENST00000013222.5_Missense_Mutation_p.P102Q|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.P101Q																							AAGAAGGAGCCGGGGGCCTAT	0.572000													56	93					1.39843e-22	2.15511e-22	0.003610	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929215	32929215	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr15:32929215C>G	ENST00000361627.3	+	12	2963	c.2241C>G	c.(2239-2241)aaC>aaG	p.N747K	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N558K|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N558K	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	747					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGGAAGGTAACTTACCGAAGT	0.383000													22	36					0	0	0.001882	0	0
IGSF8	93185	broad.mit.edu	37	1	160061724	160061724	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:160061724C>T	ENST00000368086.1	-	6	1947	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	IGSF8_ENST00000314485.7_Silent_p.L577L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	577					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATAGGGTGTCCAGGGCTGGGG	0.562000													29	25					0	0	0.006320	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363102	22363102	+	RNA	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:22363102G>T	ENST00000390438.2	+	0	361																											CTGGTTAAAGGCATCAACGGT	0.502000													42	126					1.8453e-21	2.80535e-21	0.002522	1	0
DMBT1	1755	broad.mit.edu	37	10	124338238	124338238	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:124338238T>G	ENST00000368909.3	+	9	748	c.642T>G	c.(640-642)agT>agG	p.S214R	DMBT1_ENST00000344338.3_Missense_Mutation_p.S214R|DMBT1_ENST00000330163.4_Missense_Mutation_p.S214R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.S214R|DMBT1_ENST00000368955.3_Missense_Mutation_p.S214R|DMBT1_ENST00000338354.3_Missense_Mutation_p.S214R	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	214					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTACAGAAAGTTGGCCTGTCA	0.448000													7	12					0	0	0.003080	0	0
ASXL3	80816	broad.mit.edu	37	18	31226268	31226268	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr18:31226268G>T	ENST00000269197.5	+	4	306	c.306G>T	c.(304-306)ttG>ttT	p.L102F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATCTGAATTGGATGGTACAG	0.383000													26	189					2.12542e-12	2.88083e-12	0.006320	1	0
TYRP1	7306	broad.mit.edu	37	9	12695518	12695518	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:12695518G>T	ENST00000388918.5	+	3	518	c.389G>T	c.(388-390)aGg>aTg	p.R130M	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	130					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CCTAAAGTCAGGAGAAATCTT	0.433000									Oculocutaneous Albinism				29	18					8.88839e-20	1.29863e-19	0.002096	1	0
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2																						CGTTGGTGTTTTTGTAGACCA	0.617000													3	23					0	0	0.004672	0	0
RTN1	6252	broad.mit.edu	37	14	60194383	60194383	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:60194383G>C	ENST00000267484.5	-	3	1354	c.1019C>G	c.(1018-1020)cCa>cGa	p.P340R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	340					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGCAGCAGATGGTTCTGTCGT	0.527000													7	11					0	0	0.003080	0	0
AFF4	27125	broad.mit.edu	37	5	132232907	132232907	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:132232907C>A	ENST00000265343.5	-	11	1794	c.1415G>T	c.(1414-1416)tGg>tTg	p.W472L	AFF4_ENST00000378595.3_Missense_Mutation_p.W472L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	472					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCAAGTTGCCATTTGTTTGT	0.413000													29	105					3.80469e-20	5.59514e-20	0.009535	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178634557	178634557	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:178634557C>A	ENST00000251582.7	-	4	949	c.848G>T	c.(847-849)gGg>gTg	p.G283V	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G283V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	283	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCTCCTTCCCGTGGAACTG	0.632000													45	61					1.21353e-23	1.89615e-23	0.003610	1	0
RABGGTA	5875	broad.mit.edu	37	14	24738879	24738879	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:24738879C>T	ENST00000399409.3	-	5	932	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.R150Q|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	150					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCCACAAACCGCCGATAGTC	0.582000													11	21					0	0	0.001368	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664879	176664879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:176664879C>A	ENST00000367662.3	+	7	3794	c.2630C>A	c.(2629-2631)tCa>tAa	p.S877*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	877					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGGGCCTCAGGCAGCTTG	0.537000													89	52					6.09681e-45	1.05522e-44	0.003610	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434052	72434052	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chrX:72434052C>A	ENST00000373517.3	-	1	632	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	93					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AAAACATAACCGATAAGTCCT	0.448000													42	19					2.54354e-34	4.23923e-34	0.009718	1	0
HEBP1	50865	broad.mit.edu	37	12	13140126	13140126	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:13140126C>T	ENST00000536942.1	-	3	508	c.358G>A	c.(358-360)Gtt>Att	p.V120I	HEBP1_ENST00000014930.4_Missense_Mutation_p.V120I			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	120					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCAATCTTAACGCTTTTGTCA	0.488000													20	142					0	0	0.010504	0	0
ZNF653	115950	broad.mit.edu	37	19	11594670	11594670	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:11594670C>G	ENST00000293771.5	-	9	1811	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCACAGATCTCGCACCTGCCG	0.701000													3	7					0	0	0.001168	0	0
EHBP1	23301	broad.mit.edu	37	2	62974575	62974575	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:62974575G>A	ENST00000263991.5	+	3	632	c.150G>A	c.(148-150)agG>agA	p.R50R	EHBP1_ENST00000354487.3_Silent_p.R50R|EHBP1_ENST00000431489.1_Silent_p.R50R|EHBP1_ENST00000405289.1_Silent_p.R50R|EHBP1_ENST00000405015.3_Silent_p.R50R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	50						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAGCCGAAGGAAGTCTTCTA	0.299000													18	83					0	0	0.010504	0	0
DHX30	22907	broad.mit.edu	37	3	47887703	47887703	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:47887703G>A	ENST00000446256.2	+	12	1596	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	DHX30_ENST00000457607.1_Missense_Mutation_p.D409N|DHX30_ENST00000445061.1_Missense_Mutation_p.D381N|DHX30_ENST00000348968.4_Missense_Mutation_p.D353N	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	381						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGCAGAGTGATGACATCTT	0.542000													28	126					0	0	0.004656	0	0
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	T	rs3211483		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:256470G>T	ENST00000264932.6	+	15	2045	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.V563L|SDHA_ENST00000510361.1_Missense_Mutation_p.V596L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428000									Familial Paragangliomas				7	101					0.00307968	0.0033967	0.003080	1	0
GP6	51206	broad.mit.edu	37	19	55543711	55543711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:55543711C>A	ENST00000310373.3	-	3	148	c.121G>T	c.(121-123)Gag>Tag	p.E41*	CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000417454.1_Nonsense_Mutation_p.E41*|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Nonsense_Mutation_p.E41*	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	41	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACTGGCTTCTCCAGGGGCACC	0.682000													17	14					9.16793e-09	1.1272e-08	0.004990	1	0
SIRPG	55423	broad.mit.edu	37	20	1617082	1617082	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr20:1617082G>T	ENST00000381580.1	-	3	580	c.401C>A	c.(400-402)aCc>aAc	p.T134N	SIRPG_ENST00000216927.4_Missense_Mutation_p.T167N|SIRPG_ENST00000303415.3_Missense_Mutation_p.T167N|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.T167N|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	167	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGACTCACAGGTGAAACTCAC	0.542000													41	81					2.66277e-13	3.6756e-13	0.006999	1	0
TAS2R9	50835	broad.mit.edu	37	12	10962433	10962433	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:10962433A>G	ENST00000240691.2	-	1	334	c.242T>C	c.(241-243)cTa>cCa	p.L81P		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	81					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATGCTTACTAGCACGCTATT	0.398000													52	52					0	0	0.003610	0	0
ASNS	440	broad.mit.edu	37	7	97488526	97488526	+	Splice_Site	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:97488526T>G	ENST00000175506.4	-	6	1200	c.673_splice	c.e6+1	p.P224_splice	ASNS_ENST00000394309.3_Splice_Site_p.P224_splice|ASNS_ENST00000437628.1_Splice_Site_p.P141_splice|ASNS_ENST00000455086.1_Splice_Site_p.P141_splice|ASNS_ENST00000444334.1_Splice_Site_p.P203_splice|ASNS_ENST00000422745.1_Splice_Site_p.P203_splice|ASNS_ENST00000394308.3_Splice_Site_p.P224_splice	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	224	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTGCTACCTGGAAAGAGTT	0.433000													11	64					0	0	0.001855	0	0
MYOC	4653	broad.mit.edu	37	1	171621320	171621320	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:171621320G>T	ENST00000037502.5	-	1	491	c.432C>A	c.(430-432)aaC>aaA	p.N144K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	144					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTCGGAGGAGGTTGCTGTAGG	0.582000													33	139					3.80469e-20	5.59514e-20	0.009535	1	0
AKAP6	9472	broad.mit.edu	37	14	33291383	33291383	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:33291383G>C	ENST00000280979.4	+	13	4534	c.4364G>C	c.(4363-4365)gGa>gCa	p.G1455A	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1455					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTGTTTGGGAGAAGAATTA	0.363000													24	38					0	0	0.002780	0	0
SPTA1	6708	broad.mit.edu	37	1	158653173	158653173	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:158653173G>A	ENST00000368148.3	-	3	558	c.378C>T	c.(376-378)caC>caT	p.H126H	SPTA1_ENST00000368147.3_Silent_p.H126H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	126				Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCGTTTCTTCGTGGGCAGAAT	0.383000													80	50					0	0	0.003610	0	0
FES	2242	broad.mit.edu	37	15	91437239	91437239	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr15:91437239C>T	ENST00000328850.3	+	18	2419	c.2277C>T	c.(2275-2277)tcC>tcT	p.S759S	FES_ENST00000450438.2_Silent_p.S631S|FES_ENST00000444422.2_Silent_p.S689S|FES_ENST00000394300.3_Silent_p.S701S|FES_ENST00000394302.1_Silent_p.S618S|FES_ENST00000414248.2_Silent_p.S631S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	759	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGGGGGCCTCCCCCTATCCCA	0.607000													84	136					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100677571	100677571	+	Silent	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:100677571T>A	ENST00000306151.4	+	3	2938	c.2874T>A	c.(2872-2874)tcT>tcA	p.S958S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	958	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGACCACTTCTACTGAAGCCA	0.502000													42	518					0	0	0.003610	0	0
LEFTY1	10637	broad.mit.edu	37	1	226074602	226074602	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:226074602G>A	ENST00000272134.5	-	4	1005	c.926C>T	c.(925-927)cCg>cTg	p.P309L	RP4-559A3.7_ENST00000432920.2_3'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	309					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CCCCAGAAACGGCCACTTGAA	0.667000													4	35					0	0	0.009096	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244578	1244578	+	RNA	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr4:1244578A>G	ENST00000581398.1	+	0	532				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA	NR_033339.1																						TAATGGAGAGACTTCTGGGGA	0.562000													23	30					0	0	0.002299	0	0
FAM3C	10447	broad.mit.edu	37	7	120991242	120991242	+	Silent	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:120991242G>C	ENST00000359943.3	-	9	762	c.549C>G	c.(547-549)gtC>gtG	p.V183V		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	183					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					CACCACAGAAGACCCAGTTGT	0.428000													24	60					0	0	0.002780	0	0
PHF21B	112885	broad.mit.edu	37	22	45309877	45309877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr22:45309877G>T	ENST00000313237.5	-	5	806	c.656C>A	c.(655-657)tCa>tAa	p.S219*	PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	219							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		aggggacagtgatggggaggg	0.647000													24	30					1.10923e-09	1.38654e-09	0.002780	1	0
TLL1	7092	broad.mit.edu	37	4	166935588	166935588	+	Splice_Site	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr4:166935588G>T	ENST00000061240.2	+	8	1565	c.917_splice	c.e8-1	p.R306_splice	TLL1_ENST00000507499.1_Splice_Site_p.R306_splice|TLL1_ENST00000513213.1_Splice_Site_p.R306_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	306	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTTTTCAGGGGGATGTTTC	0.413000													29	116					2.2171e-23	3.44033e-23	0.009535	1	0
SFTPA1	653509	broad.mit.edu	37	10	81372125	81372125	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:81372125G>T	ENST00000398636.3	+	4	368	c.230G>T	c.(229-231)gGa>gTa	p.G77V	SFTPA1_ENST00000419470.2_Missense_Mutation_p.G92V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G18V|SFTPA1_ENST00000428376.2_Missense_Mutation_p.G77V|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G77V	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	77	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGGCTGCCTGGAGCCCCTGGT	0.612000													71	130					8.13855e-26	1.2987e-25	0.003610	1	0
RTN1	6252	broad.mit.edu	37	14	60194384	60194384	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:60194384G>T	ENST00000267484.5	-	3	1353	c.1018C>A	c.(1018-1020)Cca>Aca	p.P340T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	340					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGCAGATGGTTCTGTCGTC	0.527000													7	11					8.12818e-05	9.09871e-05	0.001984	1	0
SNCB	6620	broad.mit.edu	37	5	176056582	176056582	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:176056582C>A	ENST00000310112.3	-	3	324	c.74G>T	c.(73-75)gGg>gTg	p.G25V	SNCB_ENST00000393693.2_Missense_Mutation_p.G25V|SNCB_ENST00000506696.1_Missense_Mutation_p.G25V|SNCB_ENST00000510387.1_Missense_Mutation_p.G25V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	25	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGGTGACCCCCTGCTTGGT	0.672000													7	14					0.00448238	0.00491969	0.004482	1	0
GABRA6	2559	broad.mit.edu	37	5	161116287	161116287	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:161116287G>T	ENST00000523217.1	+	5	686	c.444G>T	c.(442-444)atG>atT	p.M148I	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.M158I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	158					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGTCCCATGAGGCTGGTTA	0.408000										TCGA Ovarian(5;0.080)			40	39					2.35958e-20	3.51594e-20	0.009718	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	22					1.49906e-05	1.69492e-05	0.002450	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032019	26032019	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr6:26032019C>T	ENST00000244661.2	-	1	269	c.270G>A	c.(268-270)gtG>gtA	p.V90V		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	90					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCAGCGCCATCACCGCAGAGC	0.557000													21	70					0	0	0.001882	0	0
TDRD3	81550	broad.mit.edu	37	13	61103023	61103023	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr13:61103023A>G	ENST00000196169.3	+	11	2173	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	TDRD3_ENST00000535286.1_Missense_Mutation_p.N555S|TDRD3_ENST00000377881.2_Missense_Mutation_p.N462S|TDRD3_ENST00000377894.2_Missense_Mutation_p.N462S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	462					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAAACAATAAATAATGAAGCT	0.284000													34	19					0	0	0.002836	0	0
DHX57	90957	broad.mit.edu	37	2	39088534	39088534	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:39088534C>A	ENST00000295373.6	-	5	1144	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	340							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGATGAGAATCATCTACACTT	0.343000													14	28					9.31168e-06	1.05815e-05	0.001855	1	0
DHX30	22907	broad.mit.edu	37	3	47887871	47887871	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:47887871G>A	ENST00000446256.2	+	12	1764	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	DHX30_ENST00000457607.1_Missense_Mutation_p.D465N|DHX30_ENST00000445061.1_Missense_Mutation_p.D437N|DHX30_ENST00000348968.4_Missense_Mutation_p.D409N	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	437						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTACCTGTGGACCCACATCG	0.657000													13	60					0	0	0.002450	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489080	72489080	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:72489080G>C	ENST00000373208.1	+	5	901	c.901G>C	c.(901-903)Ggg>Cgg	p.G301R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G301R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	301	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGTCCCTGGGGGTTCATAT	0.488000													26	52					0	0	0.008361	0	0
ZNF521	25925	broad.mit.edu	37	18	22804959	22804959	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr18:22804959T>C	ENST00000361524.3	-	4	3071	c.2923A>G	c.(2923-2925)Act>Gct	p.T975A	ZNF521_ENST00000584787.1_Missense_Mutation_p.T755A|ZNF521_ENST00000538137.2_Missense_Mutation_p.T975A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	975					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)					TTGTGTTCAGTAAGAGTTAAA	0.483000			T	PAX5	ALL								41	78					0	0	0.002852	0	0
COPS5	10987	broad.mit.edu	37	8	67974210	67974210	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr8:67974210T>C	ENST00000357849.4	-	1	342	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	8					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTCTGGGCCATACCGCTCCCG	0.537000													45	164					0	0	0.002852	0	0
ROBO1	6091	broad.mit.edu	37	3	78685076	78685076	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:78685076C>A	ENST00000436010.2	-	21	4100	c.3103G>T	c.(3103-3105)Gcc>Tcc	p.A1035S	ROBO1_ENST00000495273.1_Missense_Mutation_p.A1029S|ROBO1_ENST00000464233.1_Missense_Mutation_p.A1074S|ROBO1_ENST00000467549.1_Missense_Mutation_p.A974S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1074					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAGTGGTGGCGTAAGGAGTA	0.488000													18	69					3.62473e-10	4.55623e-10	0.001882	1	0
UMODL1	89766	broad.mit.edu	37	21	43491428	43491428	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr21:43491428G>A	ENST00000408989.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408910.2_Start_Codon_SNP_p.M1I	NM_173568.3	NP_775839.3	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCGGACGATGCTCAGGACCT	0.662000													6	10					0	0	0.001168	0	0
RFX6	222546	broad.mit.edu	37	6	117248302	117248302	+	Silent	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr6:117248302A>C	ENST00000332958.2	+	17	2014	c.1998A>C	c.(1996-1998)ccA>ccC	p.P666P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	666					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGAGGCCCCCAAGTGTGGGCC	0.522000													58	42					0	0	0.003610	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630302	51630302	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:51630302G>T	ENST00000440804.3	+	4	831	c.764G>T	c.(763-765)gGa>gTa	p.G255V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G255V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	255	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			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)		ACAGTCTTGGGAAATGGCTCA	0.507000													22	70					5.26018e-13	7.21671e-13	0.001882	1	0
FLG	2312	broad.mit.edu	37	1	152280910	152280910	+	Missense_Mutation	SNP	C	C	T	rs146106776		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:152280910C>T	ENST00000368799.1	-	3	6487	c.6452G>A	c.(6451-6453)gGg>gAg	p.G2151E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2151	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGTGGGACCCCTGTCTTCC	0.582000									Ichthyosis				293	186					0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202733256	202733256	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:202733256T>C	ENST00000367265.3	-	6	1893	c.729A>G	c.(727-729)atA>atG	p.I243M	KDM5B_ENST00000367264.2_Missense_Mutation_p.I279M	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	243					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTCGGGTTCTATTTTAATAT	0.333000													10	55					0	0	0.000978	0	0
DENND4A	10260	broad.mit.edu	37	15	65983463	65983463	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr15:65983463C>A	ENST00000443035.3	-	23	3681	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	DENND4A_ENST00000431932.2_Missense_Mutation_p.D1113Y	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCCACTTTATCTGCCAAATAG	0.363000													9	22					2.74318e-10	3.48709e-10	0.006214	1	0
XDH	7498	broad.mit.edu	37	2	31602826	31602826	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:31602826G>A	ENST00000379416.3	-	13	1197	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	383	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGTCCATCTGGACAGTTCTCC	0.552000													36	51					0	0	0.006230	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553983	135553983	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:135553983G>A	ENST00000372146.4	+	2	1541	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	326					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CACAATAATCGAAAAATGAGT	0.413000													98	34					0	0	0.003610	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874354	31874354	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr21:31874354C>A	ENST00000334151.2	-	1	81	c.55G>T	c.(55-57)Gat>Tat	p.D19Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	19						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCCAGGTCATCGAAGCCTCCG	0.587000													47	69					1.61863e-15	2.30501e-15	0.003610	1	0
KRT37	8688	broad.mit.edu	37	17	39579093	39579093	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr17:39579093G>T	ENST00000225550.3	-	3	668	c.669C>A	c.(667-669)gaC>gaA	p.D223E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	223	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGGCCTCCAGGTCGGCCTTGG	0.667000													37	30					4.00102e-26	6.47647e-26	0.006230	1	0
KIFAP3	22920	broad.mit.edu	37	1	170015993	170015993	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:170015993C>A	ENST00000367765.1	-	3	1560	c.59G>T	c.(58-60)aGt>aTt	p.S20I	KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.S16I|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.S60I	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	60					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCATTGAGACTCTTAAGTCG	0.313000													42	26					6.1244e-12	8.20232e-12	0.007835	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454777	84454777	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr13:84454777G>A	ENST00000377084.2	-	1	1751	c.866C>T	c.(865-867)cCt>cTt	p.P289L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289						integral to membrane		p.P289H(1)|p.P289L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTTGAAAGGAGTTGGCAG	0.537000													12	15					0	0	0.000978	0	0
CRB2	286204	broad.mit.edu	37	9	126125191	126125191	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:126125191G>A	ENST00000373631.3	+	2	143	c.142G>A	c.(142-144)Gct>Act	p.A48T	CRB2_ENST00000359999.3_Missense_Mutation_p.A48T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	48						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGACCCGTGCGCTCCAGGGAC	0.647000													92	21					0	0	0.003610	0	0
RHOH	399	broad.mit.edu	37	4	40245368	40245368	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr4:40245368G>T	ENST00000381799.4	+	3	1086	c.362G>T	c.(361-363)cGg>cTg	p.R121L	RHOH_ENST00000505618.1_Missense_Mutation_p.R121L	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	121					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						ACTGACCAGCGGGAGATGGGG	0.567000													8	23					5.18039e-06	5.91669e-06	0.003080	1	0
TECRL	253017	broad.mit.edu	37	4	65188467	65188467	+	Silent	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr4:65188467T>A	ENST00000381210.3	-	4	485	c.375A>T	c.(373-375)gcA>gcT	p.A125A	TECRL_ENST00000507440.1_Silent_p.A125A	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	125					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGGAGGAAGCTGCAATACTTT	0.318000													7	25					0	0	0.003080	0	0
HOXA13	3209	broad.mit.edu	37	7	27238817	27238817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:27238817C>A	ENST00000222753.4	-	1	908	c.880G>T	c.(880-882)Gag>Tag	p.E294*	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	294					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGCGCCTGCTCTTTGGGGCAG	0.637000			T	NUP98	AML								15	31					4.7546e-09	5.91042e-09	0.004007	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68274527	68274527	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:68274527C>A	ENST00000347230.4	-	5	612	c.474G>T	c.(472-474)tgG>tgT	p.W158C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.W158C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	158					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCAGGAGATCCCAGAGCACAG	0.602000													69	62					5.80444e-35	9.74625e-35	0.003610	1	0
REG3G	130120	broad.mit.edu	37	2	79255050	79255050	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:79255050A>G	ENST00000272324.5	+	5	635	c.451A>G	c.(451-453)Aga>Gga	p.R151G	REG3G_ENST00000409471.1_Missense_Mutation_p.R105G|REG3G_ENST00000393897.2_Missense_Mutation_p.R151G	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	151	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCCTGTCAAGAAGCACAGG	0.478000													37	47					0	0	0.006999	0	0
ARNT2	9915	broad.mit.edu	37	15	80847406	80847406	+	Splice_Site	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr15:80847406G>C	ENST00000533983.1	+	12	1396	c.1056_splice	c.e12-1	p.D353_splice	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000303329.4_Splice_Site_p.D364_splice|ARNT2_ENST00000527771.1_Splice_Site_p.D353_splice			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	364	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TTTTATTTAGGATCTTCTGGG	0.398000													33	97					0	0	0.002836	0	0
PRDM9	56979	broad.mit.edu	37	5	23522875	23522875	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:23522875C>A	ENST00000296682.3	+	8	945	c.763C>A	c.(763-765)Cag>Aag	p.Q255K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	255	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGCATCCCTCAGGCTGGGCT	0.572000										HNSCC(3;0.000094)			19	31					2.37509e-13	3.29874e-13	0.010504	1	0
RBFOX1	54715	broad.mit.edu	37	16	7383079	7383079	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr16:7383079G>T	ENST00000340209.4	+	1	329	c.32G>T	c.(31-33)gGa>gTa	p.G11V	RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G26V|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G26V|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G26V|RBFOX1_ENST00000547372.1_Intron			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACCTTCCTGGACTGATTCAG	0.453000													39	55					3.33393e-15	4.71783e-15	0.004878	1	0
SLC29A3	55315	broad.mit.edu	37	10	73082704	73082704	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:73082704C>T	ENST00000373189.5	+	2	245	c.193C>T	c.(193-195)Cta>Tta	p.L65L		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	65					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATTGGCAGTCTACTGCCATG	0.597000													5	78					0	0	0.001168	0	0
ZNF43	7594	broad.mit.edu	37	19	22018896	22018896	+	Translation_Start_Site	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:22018896G>T	ENST00000354959.4	-	0	114				ZNF43_ENST00000598288.1_Intron|ZNF43_ENST00000595461.1_Intron|ZNF43_ENST00000598381.1_Intron|ZNF43_ENST00000594012.1_Intron	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATACCCGCAGGTCACAGAGC	0.622000													13	38					1.61879e-10	2.0813e-10	0.001368	1	0
FAM208B	54906	broad.mit.edu	37	10	5790473	5790473	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:5790473G>T	ENST00000328090.5	+	15	5714	c.5089G>T	c.(5089-5091)Ggt>Tgt	p.G1697C		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1697																	GCTTAAGAATGGTGAGCCTGA	0.458000													25	37					7.87624e-14	1.10072e-13	0.002780	1	0
GCM1	8521	broad.mit.edu	37	6	52993452	52993452	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr6:52993452T>A	ENST00000259803.7	-	6	1074	c.863A>T	c.(862-864)tAc>tTc	p.Y288F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	288						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGATCAGAGTAGACTCCGGA	0.473000													21	36					0	0	0.010504	0	0
FAT2	2196	broad.mit.edu	37	5	150911504	150911504	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:150911504A>C	ENST00000261800.5	-	13	9467	c.9455T>G	c.(9454-9456)cTg>cGg	p.L3152R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3152	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATCCGGCAGAGAGTAAAC	0.642000													16	50					0	0	0.004990	0	0
CNGA3	1261	broad.mit.edu	37	2	99012950	99012950	+	Silent	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:99012950G>T	ENST00000393504.1	+	8	1734	c.1317G>T	c.(1315-1317)cgG>cgT	p.R439R	CNGA3_ENST00000272602.2_Silent_p.R439R|CNGA3_ENST00000409937.1_Silent_p.R443R|CNGA3_ENST00000436404.2_Silent_p.R421R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	439			R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGTTATCCGGTGGTTTGACT	0.547000													16	32					1.3612e-06	1.61195e-06	0.003163	1	0
C14orf159	80017	broad.mit.edu	37	14	91671070	91671070	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:91671070G>A	ENST00000518868.1	+	15	2155	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	C14orf159_ENST00000428926.2_Missense_Mutation_p.E484K|C14orf159_ENST00000256324.10_Missense_Mutation_p.E489K|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000525393.2_Missense_Mutation_p.E360K|C14orf159_ENST00000523816.1_Missense_Mutation_p.E484K|C14orf159_ENST00000412671.2_Missense_Mutation_p.E489K|C14orf159_ENST00000523771.1_Missense_Mutation_p.E484K|C14orf159_ENST00000522322.1_Missense_Mutation_p.E484K			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	484						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGAGGCAACGAGCTTGGGAT	0.602000													5	11					0	0	0.000602	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672000													14	12					0	0	0.002450	0	0
PAK1	5058	broad.mit.edu	37	11	77054934	77054934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:77054934C>A	ENST00000356341.3	-	10	1459	c.928G>T	c.(928-930)Gag>Tag	p.E310*	PAK1_ENST00000278568.4_Nonsense_Mutation_p.E310*|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Nonsense_Mutation_p.E212*|PAK1_ENST00000530617.1_Nonsense_Mutation_p.E310*	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	310	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					ATAATCAGCTCTTTCTTGGGC	0.428000													18	76					1.2644e-06	1.50524e-06	0.010504	1	0
SOX6	55553	broad.mit.edu	37	11	16010775	16010775	+	Splice_Site	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:16010775T>G	ENST00000352083.6	-	14	1811	c.1732_splice	c.e14-1	p.G578_splice	SOX6_ENST00000396356.3_Intron|SOX6_ENST00000528252.1_Splice_Site_p.G551_splice|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000528429.1_Splice_Site_p.G578_splice|SOX6_ENST00000527619.1_Splice_Site_p.G554_splice			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	578					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTGCTTTACTTCCTGTAATGT	0.502000											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	19					0	0	0.007413	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454778	84454778	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr13:84454778G>T	ENST00000377084.2	-	1	1750	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTGAAAGGAGTTGGCAGG	0.542000													12	15					0.000978159	0.00108953	0.000978	1	0
FAM47B	170062	broad.mit.edu	37	X	34962130	34962130	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chrX:34962130G>T	ENST00000329357.5	+	1	1218	c.1182G>T	c.(1180-1182)atG>atT	p.M394I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	394								p.M394I(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGAGTCGGATGCCCCATCTCC	0.582000													24	5					1.1804e-14	1.65993e-14	0.003954	1	0
DPY19L2	283417	broad.mit.edu	37	12	64041052	64041052	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:64041052G>C	ENST00000324472.4	-	5	865	c.682C>G	c.(682-684)Cct>Gct	p.P228A	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	228					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCATTAAGAGGTTCTATTCTG	0.318000													19	39					0	0	0.010504	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690271	195690271	+	RNA	SNP	T	T	A	rs115852167	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:195690271T>A	ENST00000427841.1	-	0	2224					NR_003264.2																						TTGTCGATTATGGGTCTATAT	0.403000													11	36					0	0	0.006122	0	0
ZNF442	79973	broad.mit.edu	37	19	12461745	12461745	+	Silent	SNP	A	A	G	rs117398535	byFrequency	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:12461745A>G	ENST00000242804.4	-	6	1236	c.654T>C	c.(652-654)ttT>ttC	p.F218F	ZNF442_ENST00000438182.1_Silent_p.F149F	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAGGCCAAAAAAAGGCTTTCC	0.403000													5	107					0	0	0.000602	0	0
MAGI3	260425	broad.mit.edu	37	1	114189171	114189171	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:114189171A>G	ENST00000369615.1	+	12	2124	c.2062A>G	c.(2062-2064)Atg>Gtg	p.M688V	MAGI3_ENST00000369617.4_Missense_Mutation_p.M713V|MAGI3_ENST00000369611.4_Missense_Mutation_p.M688V|MAGI3_ENST00000307546.9_Missense_Mutation_p.M688V	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	713					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCAGCCTATGCCTTTTCC	0.373000													34	53					0	0	0.007835	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967957	88967957	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr16:88967957C>T	ENST00000268679.4	-	2	655	c.259G>A	c.(259-261)Gca>Aca	p.A87T	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A87T|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A26T|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A26T	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	87	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCCTGGGATGCGGCAGGCGGT	0.697000			T	RUNX1	AML								12	19					0	0	0.001855	0	0
PCNXL2	80003	broad.mit.edu	37	1	233388166	233388166	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:233388166C>A	ENST00000258229.8	-	7	2296	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	688						integral to membrane				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)				GTTTCAGGCCCACTGATGACT	0.388000													16	81					1.99824e-07	2.40429e-07	0.004990	1	0
HK3	3101	broad.mit.edu	37	5	176309050	176309050	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:176309050A>T	ENST00000292432.5	-	16	2223	c.2132T>A	c.(2131-2133)aTc>aAc	p.I711N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	711	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATGTTGATGCACATGCG	0.627000													36	35					0	0	0.003271	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941190	52941190	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:52941190T>A	ENST00000371544.3	-	13	2303	c.2041A>T	c.(2041-2043)Agg>Tgg	p.R681W	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R681W|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	681					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCAACATTCCTCTTGACTGAA	0.403000													8	16					0	0	0.004482	0	0
EIF4B	1975	broad.mit.edu	37	12	53427616	53427616	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:53427616C>G	ENST00000262056.9	+	9	1332	c.1006C>G	c.(1006-1008)Cta>Gta	p.L336V	EIF4B_ENST00000420463.3_Missense_Mutation_p.L336V|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.L297V	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	336					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAAACTGAATCTAAAGCCTCG	0.458000													13	40					0	0	0.001855	0	0
MYO1G	64005	broad.mit.edu	37	7	45010484	45010484	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:45010484T>A	ENST00000258787.7	-	8	1157	c.1021A>T	c.(1021-1023)Aag>Tag	p.K341*		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	341	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GTGTGGCCCTTCTCTATGAGT	0.662000													12	28					0	0	0.001855	0	0
MED27	9442	broad.mit.edu	37	9	134738450	134738450	+	Splice_Site	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:134738450C>A	ENST00000292035.5	-	7	864	c.801_splice	c.e7+1	p.M267_splice	MED27_ENST00000372184.3_Splice_Site_p.M231_splice|MED27_ENST00000357028.2_Splice_Site_p.M193_splice	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	267					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AGCCACTTACCATGAAGGATC	0.537000													24	8					4.72057e-08	5.71037e-08	0.003954	1	0
FGF8	2253	broad.mit.edu	37	10	103530295	103530295	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:103530295C>T	ENST00000347978.2	-	5	608	c.439G>A	c.(439-441)Gag>Aag	p.E147K	FGF8_ENST00000344255.3_Missense_Mutation_p.E165K|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Missense_Mutation_p.E176K|FGF8_ENST00000346714.3_Missense_Mutation_p.E136K	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	165					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TACCAGCCCTCGTACTTGGCA	0.627000													15	28					0	0	0.004990	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146834	52146834	+	Silent	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:52146834A>C	ENST00000360844.6	-	6	1145	c.1104T>G	c.(1102-1104)gcT>gcG	p.A368A	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	368					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGGAAGCCAGCCCCCATGA	0.597000													26	40					0	0	0.004656	0	0
ASPM	259266	broad.mit.edu	37	1	197101446	197101446	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:197101446T>C	ENST00000367409.4	-	7	2712	c.2456A>G	c.(2455-2457)tAc>tGc	p.Y819C	ASPM_ENST00000367408.1_Missense_Mutation_p.Y69C|ASPM_ENST00000294732.7_Missense_Mutation_p.Y819C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	819					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAAGGATTGTAGGACAACAG	0.308000													22	45					0	0	0.005443	0	0
GDF6	392255	broad.mit.edu	37	8	97157010	97157010	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr8:97157010G>A	ENST00000287020.5	-	2	1248	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	383					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATACACCCTCGCAGTGATAGG	0.637000													8	27					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13864539	13864539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:13864539C>A	ENST00000265104.4	-	28	4667	c.4563G>T	c.(4561-4563)gaG>gaT	p.E1521D	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1521	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTGCCTCCATGATAT	0.408000									Kartagener syndrome				27	33					2.79863e-10	3.5376e-10	0.004656	1	0
OR4C16	219428	broad.mit.edu	37	11	55340174	55340174	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:55340174T>A	ENST00000314634.3	+	1	571	c.571T>A	c.(571-573)Tat>Aat	p.Y191N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCAGAAACCTATGTGGTTAA	0.438000													42	50					0	0	0.003610	0	0
HPSE2	60495	broad.mit.edu	37	10	100481488	100481488	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:100481488C>A	ENST00000370552.3	-	5	941	c.882G>T	c.(880-882)cgG>cgT	p.R294R	HPSE2_ENST00000404542.1_Silent_p.R182R|HPSE2_ENST00000370549.1_Silent_p.R236R|HPSE2_ENST00000370546.1_Silent_p.R294R	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	294					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGGAATAAATCCGGATGGGCT	0.493000													28	42					1.17739e-12	1.60554e-12	0.005443	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574220	140574220	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:140574220G>T	ENST00000239446.4	+	1	2279	c.2095G>T	c.(2095-2097)Gtg>Ttg	p.V699L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGGCCTCGGTGTCTTCGCT	0.716000													21	62					1.36615e-20	2.04922e-20	0.002836	1	0
PACSIN3	29763	broad.mit.edu	37	11	47201066	47201066	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:47201066T>A	ENST00000539589.1	-	7	1017	c.675A>T	c.(673-675)gaA>gaT	p.E225D	PACSIN3_ENST00000298838.6_Missense_Mutation_p.E225D	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	225					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAAAGGCCTGTTCCATGTCCT	0.582000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	0.010504	0	0
CPS1	1373	broad.mit.edu	37	2	211503873	211503873	+	Splice_Site	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:211503873G>T	ENST00000233072.5	+	23	3025		c.e23-1		CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000497121.1_Splice_Site|CPS1_ENST00000451903.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						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			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)		TTCTCTTACAGATTGATACAC	0.303000													10	18					1.58986e-06	1.87288e-06	0.008291	1	0
ZNF816	125893	broad.mit.edu	37	19	53459280	53459280	+	Splice_Site	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:53459280C>A	ENST00000357666.4	-	3	363	c.63_splice	c.e3+1	p.Q21_splice	ZNF321P_ENST00000391777.3_Splice_Site_p.Q21_splice|ZNF816_ENST00000535506.1_Splice_Site_p.Q21_splice|ZNF816_ENST00000270457.4_Splice_Site_p.Q21_splice|ZNF816_ENST00000438970.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000391786.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000444460.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000434371.2_Splice_Site_p.Q21_splice	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TATCACTTACCTGAGGAAGAG	0.428000													36	75					6.90743e-12	9.14218e-12	0.003755	1	0
SNCA	6622	broad.mit.edu	37	4	90756779	90756779	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr4:90756779C>T	ENST00000394989.2	-	2	302	c.40G>A	c.(40-42)Gga>Aga	p.G14R	SNCA_ENST00000394991.3_Missense_Mutation_p.G14R|SNCA_ENST00000508895.1_Missense_Mutation_p.G14R|SNCA_ENST00000394986.1_Missense_Mutation_p.G14R|SNCA_ENST00000420646.2_Missense_Mutation_p.G14R|SNCA_ENST00000345009.4_Missense_Mutation_p.G14R|SNCA_ENST00000502987.1_Missense_Mutation_p.G14R|SNCA_ENST00000505199.1_Missense_Mutation_p.G14R|SNCA_ENST00000506244.1_Missense_Mutation_p.G14R|SNCA_ENST00000336904.3_Missense_Mutation_p.G14R			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	14					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	GCCACAACTCCCTCCTTGGCC	0.423000													17	43					0	0	0.004990	0	0
STK11	6794	broad.mit.edu	37	19	1220715	1220715	+	Splice_Site	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:1220715C>T	ENST00000326873.7	+	5	1906	c.734_splice	c.e5+1	p.L245_splice		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	245	Protein kinase.		L -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGTCACCCTGTAAGTGCC	0.706000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			17	9					0	0	0.010504	0	0
DCAF6	55827	broad.mit.edu	37	1	168032861	168032861	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:168032861G>T	ENST00000367840.3	+	18	2397	c.2303G>T	c.(2302-2304)cGc>cTc	p.R768L	DCAF6_ENST00000367843.3_Missense_Mutation_p.R697L|DCAF6_ENST00000312263.6_Missense_Mutation_p.R677L|DCAF6_ENST00000432587.2_Missense_Mutation_p.R737L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	677					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCATATAGACGCTCTGCTGTT	0.299000													6	9					5.9392e-07	7.10809e-07	0.001168	1	0
DHX30	22907	broad.mit.edu	37	3	47887817	47887817	+	Missense_Mutation	SNP	G	G	C	rs71328953		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:47887817G>C	ENST00000446256.2	+	12	1710	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	DHX30_ENST00000457607.1_Missense_Mutation_p.E447Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E419Q|DHX30_ENST00000348968.4_Missense_Mutation_p.E391Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	419						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGTCTGCTAGAACTGTGGCG	0.632000													23	86					0	0	0.002780	0	0
DNAH10	196385	broad.mit.edu	37	12	124414242	124414242	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:124414242C>T	ENST00000409039.3	+	71	12219	c.12194C>T	c.(12193-12195)aCg>aTg	p.T4065M	CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4065					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T4065M(1)|p.T2657M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGTACTTAACGAAAGCCTTC	0.507000													4	23					0	0	0.009096	0	0
LAMB1	3912	broad.mit.edu	37	7	107615715	107615715	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:107615715A>G	ENST00000393561.1	-	9	1589	c.1405T>C	c.(1405-1407)Tat>Cat	p.Y469H	LAMB1_ENST00000393560.1_Missense_Mutation_p.Y445H|LAMB1_ENST00000222399.6_Missense_Mutation_p.Y445H			P07942	LAMB1_HUMAN	laminin, beta 1	445	Laminin EGF-like 4.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTAAATCATAGAAGCCTTCT	0.363000													36	58					0	0	0.002522	0	0
ANO6	196527	broad.mit.edu	37	12	45725191	45725191	+	Silent	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:45725191A>C	ENST00000320560.8	+	3	466	c.264A>C	c.(262-264)acA>acC	p.T88T	ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.T109T|ANO6_ENST00000435642.1_Silent_p.T88T|ANO6_ENST00000441606.2_Silent_p.T70T|ANO6_ENST00000425752.2_Silent_p.T88T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	88					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAAGGGTACAAATGAAAAAC	0.299000													13	24					0	0	0.002450	0	0
COL2A1	1280	broad.mit.edu	37	12	48387269	48387269	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:48387269G>A	ENST00000380518.3	-	15	1105	c.941C>T	c.(940-942)cCg>cTg	p.P314L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P245L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	314	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTTCTCACCCGGGGAACCACT	0.542000													7	35					0	0	0.001984	0	0
LILRB4	11006	broad.mit.edu	37	19	55175722	55175722	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:55175722G>A	ENST00000391736.1	+	6	756	c.441G>A	c.(439-441)cgG>cgA	p.R147R	LILRB4_ENST00000430952.2_Silent_p.R147R|LILRB4_ENST00000391733.3_Silent_p.R147R|LILRB4_ENST00000391734.3_Silent_p.R147R|LILRB4_ENST00000270452.2_Silent_p.R147R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	147	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCAGTCACGGAGCCCAATGG	0.572000													36	71					0	0	0.003271	0	0
TXLNB	167838	broad.mit.edu	37	6	139591688	139591688	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr6:139591688C>A	ENST00000358430.3	-	4	824	c.592G>T	c.(592-594)Gac>Tac	p.D198Y		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	198						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TGTAACTGGTCCTTTTCTTTT	0.443000													28	18					8.24728e-16	1.18194e-15	0.004656	1	0
NLRP7	199713	broad.mit.edu	37	19	55453058	55453058	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:55453058A>T	ENST00000588756.1	-	4	508	c.22T>A	c.(22-24)Tgg>Agg	p.W8R	NLRP7_ENST00000590030.1_Missense_Mutation_p.W8R|NLRP7_ENST00000592784.1_Missense_Mutation_p.W8R|NLRP7_ENST00000340844.2_Missense_Mutation_p.W8R|NLRP7_ENST00000448121.2_Missense_Mutation_p.W8R|NLRP7_ENST00000446217.1_Missense_Mutation_p.W36R|NLRP7_ENST00000328092.5_Missense_Mutation_p.W8R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	8	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCAGAGTCCACTCTAGCTGG	0.478000													18	23					0	0	0.007413	0	0
MUC6	4588	broad.mit.edu	37	11	1025300	1025300	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:1025300C>G	ENST00000421673.2	-	23	2917	c.2867G>C	c.(2866-2868)gGg>gCg	p.G956A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	956	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCGTCACCCCGAGCTGCAC	0.642000													10	51					0	0	0.006214	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785396	178785396	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:178785396C>T	ENST00000311417.2	-	2	886	c.145G>A	c.(145-147)Ggg>Agg	p.G49R	ZMAT3_ENST00000432729.1_Missense_Mutation_p.G49R	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	49					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TCTTCTTCCCCTGCAAGAGGC	0.557000													39	26					0	0	0.004289	0	0
MYH13	8735	broad.mit.edu	37	17	10212750	10212750	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr17:10212750G>A	ENST00000418404.3	-	34	5133	c.4970C>T	c.(4969-4971)tCc>tTc	p.S1657F	MYH13_ENST00000252172.4_Missense_Mutation_p.S1657F|MYH13_ENST00000570743.1_Missense_Mutation_p.S1657F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1657					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATGCAGCTGGGAGTCCTGCAG	0.672000													3	9					0	0	0.004672	0	0
KLF11	8462	broad.mit.edu	37	2	10186425	10186425	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:10186425G>A	ENST00000535335.1	+	2	356	c.140G>A	c.(139-141)gGt>gAt	p.G47D	KLF11_ENST00000540845.1_Missense_Mutation_p.G47D|KLF11_ENST00000305883.1_Missense_Mutation_p.G64D	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	64					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TCCCAGAAAGGTGACCTGTTG	0.527000													17	24					0	0	0.006122	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798727	140798727	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:140798727C>T	ENST00000398594.2	+	1	1301	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTTATCCTCCAGCAAAACC	0.552000													5	41					0	0	0.001168	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136650	40136650	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:40136650G>T	ENST00000278198.2	-	2	3156	c.1193C>A	c.(1192-1194)gCg>gAg	p.A398E	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A398E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	398	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACTTTGTACGCCCCATGTGT	0.463000													55	87					4.32865e-36	7.37838e-36	0.003610	1	0
SMAD4	4089	broad.mit.edu	37	18	48581339	48581339	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr18:48581339C>T	ENST00000342988.3	+	5	1181	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.P215S|SMAD4_ENST00000588745.1_Missense_Mutation_p.P215S	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	215					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCCAACTTTCCCAACATTCC	0.463000													49	37					0	0	0.003610	0	0
USH2A	7399	broad.mit.edu	37	1	216062172	216062172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:216062172C>A	ENST00000366943.2	-	41	8205	c.7819G>T	c.(7819-7821)Gga>Tga	p.G2607*	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.G2607*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2607	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGAACATCCTTTTGAAGTG	0.473000										HNSCC(13;0.011)			62	37					5.19286e-32	8.52842e-32	0.003610	1	0
CASQ1	844	broad.mit.edu	37	1	160171074	160171074	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:160171074C>T	ENST00000368079.3	+	11	1356	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	CASQ1_ENST00000368078.3_Silent_p.L367L|CASQ1_ENST00000467691.1_Silent_p.L88L	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	367	Asp-rich.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGGAGGACCTGCCTTCTGC	0.547000													14	9					0	0	0.003163	0	0
FAM3C	10447	broad.mit.edu	37	7	120991230	120991230	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:120991230C>A	ENST00000359943.3	-	9	774	c.561G>T	c.(559-561)ggG>ggT	p.G187G		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	187					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					TAATGCCCTTCCCACCACAGA	0.418000													26	64					2.16457e-27	3.5292e-27	0.008361	1	0
PTPRB	5787	broad.mit.edu	37	12	71029742	71029742	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:71029742A>G	ENST00000334414.6	-	2	204	c.160T>C	c.(160-162)Tgg>Cgg	p.W54R	PTPRB_ENST00000550358.1_Missense_Mutation_p.W54R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.W53R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCTCAGTCCACATCCACTGC	0.512000													8	14					0	0	0.004482	0	0
CRTAC1	55118	broad.mit.edu	37	10	99664469	99664469	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:99664469C>A	ENST00000370597.3	-	7	1308	c.953G>T	c.(952-954)cGc>cTc	p.R318L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R318L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R318L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	318						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGATAGAGGCGGTGGGGGCC	0.597000													39	73					1.8453e-21	2.80535e-21	0.002522	1	0
FGFR2	2263	broad.mit.edu	37	10	123279634	123279634	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:123279634G>A	ENST00000358487.5	-	7	1070	c.798C>T	c.(796-798)gcC>gcT	p.A266A	FGFR2_ENST00000356226.4_Silent_p.A151A|FGFR2_ENST00000360144.3_Silent_p.A177A|FGFR2_ENST00000369060.4_Silent_p.A266A|FGFR2_ENST00000457416.2_Silent_p.A266A|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369056.1_Silent_p.A266A|FGFR2_ENST00000357555.5_Silent_p.A177A|FGFR2_ENST00000369059.1_Silent_p.A151A|FGFR2_ENST00000478859.1_Silent_p.A38A|FGFR2_ENST00000351936.6_Silent_p.A266A|FGFR2_ENST00000346997.2_Silent_p.A266A|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	266	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCACTGTGGAGGCATTTGCCG	0.577000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	43					0	0	0.000602	0	0
GRM8	2918	broad.mit.edu	37	7	126746607	126746607	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:126746607C>G	ENST00000339582.2	-	3	1478	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	GRM8_ENST00000444921.2_Missense_Mutation_p.E224Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E224Q|GRM8_ENST00000405249.1_Missense_Mutation_p.E224Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	224					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAGTTCCCCTCAGAAGCCAGT	0.498000										HNSCC(24;0.065)			22	29					0	0	0.002780	0	0
MFN2	9927	broad.mit.edu	37	1	12058906	12058906	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:12058906G>A	ENST00000235329.5	+	7	1001	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	MFN2_ENST00000444836.1_Missense_Mutation_p.A227T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	227					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGCTGGTGGCCAACTCAGA	0.562000													72	80					0	0	0.003610	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711687	155711687	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:155711687C>T	ENST00000295101.2	+	3	1845	c.1368C>T	c.(1366-1368)acC>acT	p.T456T		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	456					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTAAAACCACCAAGATGTTAT	0.468000													30	37					0	0	0.008361	0	0
VN1R4	317703	broad.mit.edu	37	19	53770108	53770108	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:53770108C>A	ENST00000311170.4	-	1	864	c.811G>T	c.(811-813)Gcc>Tcc	p.A271S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	271					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTCATTAAGGCTGAAGTGTTC	0.438000										HNSCC(26;0.072)			23	40					3.83957e-06	4.45311e-06	0.002780	1	0
KCNC2	3747	broad.mit.edu	37	12	75601467	75601467	+	Silent	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr12:75601467G>C	ENST00000549446.1	-	2	977	c.297C>G	c.(295-297)ggC>ggG	p.G99G	KCNC2_ENST00000548513.1_Silent_p.G99G|KCNC2_ENST00000393288.2_Silent_p.G99G|KCNC2_ENST00000550433.1_Silent_p.G99G|KCNC2_ENST00000298972.1_Silent_p.G99G|KCNC2_ENST00000341669.3_Silent_p.G99G|KCNC2_ENST00000350228.2_Silent_p.G99G|KCNC2_ENST00000540018.1_Silent_p.G99G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	99	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGAACTCGCGGCCGCCACCGG	0.731000													4	6					0	0	0.001168	0	0
F11R	50848	broad.mit.edu	37	1	160969998	160969998	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:160969998G>A	ENST00000368026.6	-	5	803	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	F11R_ENST00000537746.1_Missense_Mutation_p.P128S|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	177	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTGCTTTTGGGATTCGTAGGC	0.517000													38	84					0	0	0.004289	0	0
FNBP1L	54874	broad.mit.edu	37	1	94014886	94014886	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:94014886C>T	ENST00000260506.8	+	13	1531	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	FNBP1L_ENST00000370253.2_Silent_p.P460P|FNBP1L_ENST00000271234.7_Silent_p.P518P|FNBP1L_ENST00000370256.4_Silent_p.P513P|FNBP1L_ENST00000604705.1_Silent_p.P518P	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	518	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GTGGGCCACCCCAGCAGCATG	0.418000													14	30					0	0	0.006122	0	0
CTR9	9646	broad.mit.edu	37	11	10778300	10778300	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr11:10778300A>C	ENST00000361367.2	+	5	933	c.507A>C	c.(505-507)aaA>aaC	p.K169N		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	169					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTACAGGTAAAGCTTGCATTT	0.333000													18	49					0	0	0.007413	0	0
TTK	7272	broad.mit.edu	37	6	80715587	80715587	+	Silent	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr6:80715587A>G	ENST00000509894.1	+	2	856	c.27A>G	c.(25-27)agA>agG	p.R9R	TTK_ENST00000230510.3_Silent_p.R9R|TTK_ENST00000369798.2_Silent_p.R9R			P33981	TTK_HUMAN	TTK protein kinase	9					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGTGGCAGAGAATTGACAA	0.299000													15	14					0	0	0.003163	0	0
ZNF560	147741	broad.mit.edu	37	19	9582050	9582050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:9582050C>T	ENST00000301480.4	-	6	456	c.243G>A	c.(241-243)tgG>tgA	p.W81*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	81	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTATTGCCCAGTCTGAAA	0.289000													28	17					0	0	0.005443	0	0
MAP3K3	4215	broad.mit.edu	37	17	61769133	61769133	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr17:61769133C>A	ENST00000361357.3	+	15	1796	c.1478C>A	c.(1477-1479)aCa>aAa	p.T493K	MAP3K3_ENST00000584573.1_Missense_Mutation_p.T489K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T458K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.T493K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T462K	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	462	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGTGCTCTGACAGAGAGCGTG	0.597000													40	157					1.32136e-16	1.9181e-16	0.008740	1	0
SLC12A1	6557	broad.mit.edu	37	15	48551450	48551450	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr15:48551450A>T	ENST00000396577.3	+	17	2311	c.2096A>T	c.(2095-2097)gAc>gTc	p.D699V	SLC12A1_ENST00000380993.3_Missense_Mutation_p.D699V|SLC12A1_ENST00000558405.1_Missense_Mutation_p.D699V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	699					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCTCTCCTGGACATAACTCAC	0.502000													34	89					0	0	0.004878	0	0
OR2M5	127059	broad.mit.edu	37	1	248308515	248308515	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:248308515C>A	ENST00000366476.1	+	1	66	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCACAGCCCCACCCACACCT	0.478000													227	141					3.87791e-117	6.81664e-117	0.003610	1	0
BOD1	91272	broad.mit.edu	37	5	173036425	173036425	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:173036425C>A	ENST00000311086.4	-	3	598	c.375G>T	c.(373-375)ttG>ttT	p.L125F	BOD1_ENST00000285908.5_Intron|BOD1_ENST00000480951.1_Intron	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	125					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						CTCCAGCTTCCAACATCCCTG	0.448000													23	102					1.96895e-08	2.39467e-08	0.002780	1	0
SPTBN4	57731	broad.mit.edu	37	19	41019317	41019317	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:41019317G>T	ENST00000352632.3	+	14	2707	c.2621G>T	c.(2620-2622)cGc>cTc	p.R874L	SPTBN4_ENST00000344104.3_Missense_Mutation_p.R874L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R874L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R874L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R874L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	874					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.R874H(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCTGAGGCGCCAGTGGCTG	0.667000													6	5					0.00198382	0.00219881	0.001984	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897176	105897176	+	Missense_Mutation	SNP	C	C	A	rs56016004	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:105897176C>A	ENST00000393359.2	-	6	1552	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G376C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	376					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCAAGCTGGCCGCTTCTGCAA	0.542000													8	14					5.18039e-06	5.91669e-06	0.003080	1	0
CXCL1	2919	broad.mit.edu	37	4	74735447	74735447	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr4:74735447C>T	ENST00000395761.3	+	2	229	c.162C>T	c.(160-162)ccC>ccT	p.P54P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	54					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAATTCACCCCAAGAACATCC	0.627000													31	61					0	0	0.008361	0	0
PKLR	5313	broad.mit.edu	37	1	155271116	155271116	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:155271116G>T	ENST00000342741.4	-	1	109	c.71C>A	c.(70-72)gCa>gAa	p.A24E		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	24					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GATGGACTTTGCTAAGTCTCT	0.537000													67	36					6.20995e-33	1.02738e-32	0.003610	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269373	150269373	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:150269373G>T	ENST00000255945.2	+	3	390	c.215G>T	c.(214-216)cGc>cTc	p.R72L	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86L|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	72							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTGAGAAACGCAGCAGCTCA	0.483000													14	32					6.72482e-11	8.74616e-11	0.003163	1	0
FANCA	2175	broad.mit.edu	37	16	89858414	89858414	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr16:89858414C>A	ENST00000389301.3	-	13	1176	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	FANCA_ENST00000568369.1_Missense_Mutation_p.Q382H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	382					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGTGAACCTCCTGCGTTTCCA	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				22	36					2.70639e-06	3.15512e-06	0.002299	1	0
MYH4	4622	broad.mit.edu	37	17	10363356	10363356	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr17:10363356G>A	ENST00000255381.2	-	14	1439	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	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	443	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TGATGCGGGTGACCATCCACA	0.473000													77	162					0	0	0.003610	0	0
CKB	1152	broad.mit.edu	37	14	103988639	103988639	+	Splice_Site	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:103988639C>T	ENST00000348956.2	-	2	549	c.193_splice	c.e2+1	p.P64_splice		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	64	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCGCGTACCCGGGTTGTCCA	0.741000													5	13					0	0	0.000602	0	0
EHBP1	23301	broad.mit.edu	37	2	63101479	63101479	+	Splice_Site	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:63101479A>T	ENST00000263991.5	+	11	1585		c.e11-1		EHBP1_ENST00000354487.3_Splice_Site|EHBP1_ENST00000431489.1_Splice_Site|EHBP1_ENST00000405289.1_Splice_Site|EHBP1_ENST00000405015.3_Splice_Site	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1							cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTTTCACTTAGATCAAATCC	0.289000													23	33					0	0	0.002780	0	0
PCSK5	5125	broad.mit.edu	37	9	78965780	78965780	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:78965780G>T	ENST00000545128.1	+	35	5460	c.4922G>T	c.(4921-4923)aGt>aTt	p.S1641I		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	806					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTGTGTGGAGTTACCACCTC	0.483000													25	78					5.24475e-26	8.42906e-26	0.004656	1	0
MDGA2	161357	broad.mit.edu	37	14	47566205	47566205	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:47566205G>A	ENST00000426342.1	-	6	899	c.153C>T	c.(151-153)tcC>tcT	p.S51S	MDGA2_ENST00000399232.2_Silent_p.S349S|MDGA2_ENST00000357362.3_Silent_p.S51S|MDGA2_ENST00000439988.2_Silent_p.S280S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	280	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAGTCCCAAAGGACCTGACCC	0.468000													30	58					0	0	0.009535	0	0
FLNB	2317	broad.mit.edu	37	3	58140628	58140628	+	Missense_Mutation	SNP	G	G	T	rs144963323		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:58140628G>T	ENST00000295956.4	+	40	6910	c.6745G>T	c.(6745-6747)Ggt>Tgt	p.G2249C	FLNB_ENST00000490882.1_Missense_Mutation_p.G2280C|FLNB_ENST00000419752.2_Missense_Mutation_p.G2069C|FLNB_ENST00000493452.1_Missense_Mutation_p.G2056C|FLNB_ENST00000429972.2_Missense_Mutation_p.G2238C|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2208C|FLNB_ENST00000358537.3_Missense_Mutation_p.G2225C	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2249	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGGTCGTGCGGTGTATCTTA	0.488000													22	34					5.35356e-11	7.0032e-11	0.002780	1	0
SEMG1	6406	broad.mit.edu	37	20	43837137	43837137	+	Missense_Mutation	SNP	G	G	C	rs147894843		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr20:43837137G>C	ENST00000372781.3	+	2	1256	c.1199G>C	c.(1198-1200)gGt>gCt	p.G400A	SEMG1_ENST00000244069.6_Missense_Mutation_p.G340A	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CCATGGCATGGTGAAAATGCA	0.438000													35	34					0	0	0.002445	0	0
SOX30	11063	broad.mit.edu	37	5	157078524	157078524	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr5:157078524G>T	ENST00000265007.6	-	1	904	c.563C>A	c.(562-564)gCg>gAg	p.A188E	SOX30_ENST00000311371.5_Missense_Mutation_p.A188E|SOX30_ENST00000519442.1_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	188					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTCCTCCGCCTCCAGCTT	0.642000													77	50					3.76054e-38	6.45894e-38	0.003610	1	0
TNFSF14	8740	broad.mit.edu	37	19	6664944	6664944	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:6664944A>G	ENST00000326176.9	-	5	989	c.608T>C	c.(607-609)aTg>aCg	p.M203T	TNFSF14_ENST00000245912.3_Missense_Mutation_p.M203T|TNFSF14_ENST00000599359.1_Missense_Mutation_p.M239T	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	239					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCTTCACACCATGAAAGCCCC	0.582000													55	40					0	0	0.003610	0	0
MKI67	4288	broad.mit.edu	37	10	129902508	129902508	+	Silent	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:129902508G>T	ENST00000368654.3	-	13	7971	c.7596C>A	c.(7594-7596)atC>atA	p.I2532I	MKI67_ENST00000368653.3_Silent_p.I2172I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2532	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGTCCAGGATCTGCTTTG	0.512000													74	107					2.08929e-35	3.53451e-35	0.003610	1	0
KHSRP	8570	broad.mit.edu	37	19	6420440	6420440	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:6420440C>A	ENST00000398148.3	-	5	560	c.468G>T	c.(466-468)gtG>gtT	p.V156V		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	156	Gly-rich.|KH 1.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CACTCAGGCCCACCATGCCGT	0.592000													12	10					1.5842e-08	1.9372e-08	0.001855	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475685	75475685	+	RNA	SNP	A	A	G	rs11128433	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:75475685A>G	ENST00000459803.1	-	0	844					NR_024241.1																						TGGTGCTCCCAGCAGGCAGCC	0.602000													3	48					0	0	0.000602	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217516	150217516	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr7:150217516G>A	ENST00000313543.4	+	2	611	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	152							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGGATGTGGGCCTAAAAAG	0.502000													14	23					0	0	0.001855	0	0
FLRT2	23768	broad.mit.edu	37	14	86088584	86088584	+	Silent	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr14:86088584G>C	ENST00000330753.4	+	2	1493	c.726G>C	c.(724-726)ctG>ctC	p.L242L	FLRT2_ENST00000554746.1_Silent_p.L242L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	242					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTAATTCGCTGTCCCACCCTC	0.502000													47	61					0	0	0.002522	0	0
PSAP	5660	broad.mit.edu	37	10	73587857	73587857	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:73587857C>G	ENST00000394936.3	-	6	781	c.634G>C	c.(634-636)Gta>Cta	p.V212L	PSAP_ENST00000394934.1_Missense_Mutation_p.V212L			P07602	SAP_HUMAN	prosaposin	212	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TTGGTCCGTACAGCAGTCTGG	0.532000													31	57					0	0	0.002836	0	0
ZNF14	7561	broad.mit.edu	37	19	19824913	19824913	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:19824913C>A	ENST00000344099.3	-	3	316	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	60	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				CGATTTTTCCCCTGGTTTCTG	0.363000													27	23					3.11337e-16	4.48167e-16	0.002836	1	0
SMG8	55181	broad.mit.edu	37	17	57288786	57288786	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr17:57288786G>A	ENST00000543872.2	+	2	1638	c.1374G>A	c.(1372-1374)gtG>gtA	p.V458V	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.V458V|SMG8_ENST00000300917.5_Silent_p.V458V|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	458					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TGTATGAGGTGGCTATTGATG	0.433000													40	53					0	0	0.008740	0	0
PPP6R2	9701	broad.mit.edu	37	22	50832508	50832508	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr22:50832508G>A	ENST00000359139.3	+	3	565	c.171G>A	c.(169-171)ctG>ctA	p.L57L	PPP6R2_ENST00000395744.3_Silent_p.L57L|PPP6R2_ENST00000395741.3_Silent_p.L57L|PPP6R2_ENST00000216061.5_Silent_p.L57L	NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4	NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2	O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	57						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGGAGGAGCTGGTGAGCCTCA	0.557000													22	111					0	0	0.002299	0	0
ZNF816	125893	broad.mit.edu	37	19	53459279	53459279	+	Splice_Site	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:53459279C>A	ENST00000357666.4	-	3	364		c.e3+1		ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000391786.2_Splice_Site|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000535506.1_Splice_Site	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ATATCACTTACCTGAGGAAGA	0.433000													36	71					6.90743e-12	9.12911e-12	0.003755	1	0
SERPINA3	12	broad.mit.edu	37	14	95090116	95090116	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:95090116T>C	ENST00000553947.1	+	8	2200	c.1312T>C	c.(1312-1314)Ttc>Ctc	p.F438L	SERPINA3_ENST00000467132.1_Missense_Mutation_p.F413L|SERPINA3_ENST00000482740.1_Missense_Mutation_p.F195L|SERPINA3_ENST00000393080.4_Missense_Mutation_p.F413L|SERPINA3_ENST00000393078.3_Missense_Mutation_p.F413L			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	413					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GAACATCTTCTTCATGAGCAA	0.498000													4	109					0	0	0.000602	0	0
MUC17	140453	broad.mit.edu	37	7	100676675	100676675	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:100676675G>T	ENST00000306151.4	+	3	2042	c.1978G>T	c.(1978-1980)Gtg>Ttg	p.V660L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	660	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACACTCCTGTGACCACTTC	0.468000													106	492					9.06123e-46	1.59987e-45	0.003610	1	0
SLC4A7	9497	broad.mit.edu	37	3	27442272	27442272	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:27442272T>A	ENST00000295736.5	-	16	2453	c.2383A>T	c.(2383-2385)Aga>Tga	p.R795*	SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.R345*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R804*|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R791*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R680*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R791*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R671*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R787*	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	795						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GTAAGATTTCTCCAGGAAATA	0.328000													52	49					0	0	0.003610	0	0
OR2D3	120775	broad.mit.edu	37	11	6942999	6942999	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:6942999C>T	ENST00000317834.3	+	1	795	c.767C>T	c.(766-768)aCc>aTc	p.T256I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTTTTTCCACCTGTGGCTCC	0.453000													5	43					0	0	0.000602	0	0
SLC7A10	56301	broad.mit.edu	37	19	33699842	33699842	+	Silent	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:33699842T>G	ENST00000253188.3	-	11	1673	c.1527A>C	c.(1525-1527)ccA>ccC	p.P509P		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10	509					blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GCAGGGAGGGTGGGCAGGGGC	0.547000													5	17					0	0	0.000978	0	0
SLC44A5	204962	broad.mit.edu	37	1	75684273	75684273	+	Nonsense_Mutation	SNP	G	G	T	rs148196192		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:75684273G>T	ENST00000370855.5	-	17	1544	c.1431C>A	c.(1429-1431)tgC>tgA	p.C477*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.C477*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.C347*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438000													19	123					1.01871e-10	1.31559e-10	0.008871	1	0
PAX6	5080	broad.mit.edu	37	11	31823152	31823152	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:31823152C>A	ENST00000419022.1	-	7	824	c.356G>T	c.(355-357)aGa>aTa	p.R119I	PAX6_ENST00000379123.5_Missense_Mutation_p.R105I|PAX6_ENST00000241001.8_Missense_Mutation_p.R105I|PAX6_ENST00000379115.4_Missense_Mutation_p.R119I|PAX6_ENST00000379111.2_Missense_Mutation_p.R105I|PAX6_ENST00000379132.3_Missense_Mutation_p.R105I|PAX6_ENST00000379129.2_Missense_Mutation_p.R119I|PAX6_ENST00000379107.2_Missense_Mutation_p.R119I	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	105	Paired.		S -> R (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGACAGTAATCTGTCTCGGAT	0.502000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				15	52					2.23348e-06	2.60189e-06	0.004007	1	0
LRRCC1	85444	broad.mit.edu	37	8	86035739	86035739	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr8:86035739A>C	ENST00000414626.2	+	6	1851	c.962A>C	c.(961-963)aAa>aCa	p.K321T	LRRCC1_ENST00000360375.3_Missense_Mutation_p.K341T			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	341					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GGAAACAGAAAAGAATGCAAT	0.323000													20	144					0	0	0.008871	0	0
CDK8	1024	broad.mit.edu	37	13	26974666	26974666	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr13:26974666A>T	ENST00000381527.3	+	10	1513	c.1010A>T	c.(1009-1011)gAa>gTa	p.E337V	CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		TATTTCTTAGAAGACCCACTT	0.423000													47	33					0	0	0.003610	0	0
HYDIN	54768	broad.mit.edu	37	16	70972618	70972618	+	Silent	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr16:70972618A>T	ENST00000393567.2	-	44	7044	c.6894T>A	c.(6892-6894)cgT>cgA	p.R2298R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2298			R -> G (in dbSNP:rs1774360).							breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTTTTGGAGACGCTCCTTCT	0.537000													13	17					0	0	0.003163	0	0
FOXP1	27086	broad.mit.edu	37	3	71027060	71027060	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:71027060C>A	ENST00000318789.4	-	15	1792	c.1267G>T	c.(1267-1269)Gtc>Ttc	p.V423F	FOXP1_ENST00000484350.1_Missense_Mutation_p.V347F|FOXP1_ENST00000475937.1_Missense_Mutation_p.V423F|FOXP1_ENST00000491238.1_Missense_Mutation_p.V425F|FOXP1_ENST00000498215.1_Missense_Mutation_p.V423F|FOXP1_ENST00000493089.1_Missense_Mutation_p.V423F|FOXP1_ENST00000468577.1_Missense_Mutation_p.V423F	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	423					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GTTGTGATGACAGAGGGGCCT	0.577000			T	PAX5	ALL								23	74					2.21704e-12	2.98244e-12	0.002780	1	0
ERMARD	55780	broad.mit.edu	37	6	170169675	170169675	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr6:170169675C>G	ENST00000588451.1	+	11	1204	c.691C>G	c.(691-693)Cgc>Ggc	p.R231G	C6orf70_ENST00000418781.3_Missense_Mutation_p.R367G|C6orf70_ENST00000392095.4_Missense_Mutation_p.R241G|C6orf70_ENST00000366772.2_Missense_Mutation_p.R367G|C6orf70_ENST00000366773.3_Missense_Mutation_p.R367G			Q5T6L9	CF070_HUMAN		367						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		GGAGGGTCCCCGCATAAGAGA	0.408000													12	6					0	0	0.001368	0	0
INMT-FAM188B	100526825	broad.mit.edu	37	7	30793497	30793497	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:30793497C>A	ENST00000458257.1	+	2	316	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	INMT_ENST00000409539.1_Missense_Mutation_p.P101Q|INMT_ENST00000013222.5_Missense_Mutation_p.P102Q|INMT_ENST00000484180.1_3'UTR																							AAGAAGGAGCCGGGGGCCTAT	0.572000													56	93					1.39843e-22	2.16469e-22	0.003610	1	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929215	32929215	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr15:32929215C>G	ENST00000361627.3	+	12	2963	c.2241C>G	c.(2239-2241)aaC>aaG	p.N747K	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N558K|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N558K	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	747					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TGGAAGGTAACTTACCGAAGT	0.383000													22	36					0	0	0.001882	0	0
IGSF8	93185	broad.mit.edu	37	1	160061724	160061724	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:160061724C>T	ENST00000368086.1	-	6	1947	c.1731G>A	c.(1729-1731)ctG>ctA	p.L577L	IGSF8_ENST00000314485.7_Silent_p.L577L			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	577					cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ATAGGGTGTCCAGGGCTGGGG	0.562000													29	25					0	0	0.006320	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22363102	22363102	+	RNA	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:22363102G>T	ENST00000390438.2	+	0	361																											CTGGTTAAAGGCATCAACGGT	0.502000													42	126					1.8453e-21	2.81782e-21	0.002522	1	0
DMBT1	1755	broad.mit.edu	37	10	124338238	124338238	+	Missense_Mutation	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:124338238T>G	ENST00000368909.3	+	9	748	c.642T>G	c.(640-642)agT>agG	p.S214R	DMBT1_ENST00000368956.2_Missense_Mutation_p.S214R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S214R|DMBT1_ENST00000330163.4_Missense_Mutation_p.S214R|DMBT1_ENST00000344338.3_Missense_Mutation_p.S214R|DMBT1_ENST00000338354.3_Missense_Mutation_p.S214R	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	214					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTACAGAAAGTTGGCCTGTCA	0.448000													7	12					0	0	0.003080	0	0
ASXL3	80816	broad.mit.edu	37	18	31226268	31226268	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr18:31226268G>T	ENST00000269197.5	+	4	306	c.306G>T	c.(304-306)ttG>ttT	p.L102F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATCTGAATTGGATGGTACAG	0.383000													26	189					2.12542e-12	2.87631e-12	0.006320	1	0
TYRP1	7306	broad.mit.edu	37	9	12695518	12695518	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:12695518G>T	ENST00000388918.5	+	3	518	c.389G>T	c.(388-390)aGg>aTg	p.R130M	TYRP1_ENST00000381137.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	130					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CCTAAAGTCAGGAGAAATCTT	0.433000									Oculocutaneous Albinism				29	18					8.88839e-20	1.31293e-19	0.002096	1	0
RTN1	6252	broad.mit.edu	37	14	60194383	60194383	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:60194383G>C	ENST00000267484.5	-	3	1354	c.1019C>G	c.(1018-1020)cCa>cGa	p.P340R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	340					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGCAGCAGATGGTTCTGTCGT	0.527000													7	11					0	0	0.003080	0	0
AFF4	27125	broad.mit.edu	37	5	132232907	132232907	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:132232907C>A	ENST00000265343.5	-	11	1794	c.1415G>T	c.(1414-1416)tGg>tTg	p.W472L	AFF4_ENST00000378595.3_Missense_Mutation_p.W472L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	472					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATCAAGTTGCCATTTGTTTGT	0.413000													29	105					3.80469e-20	5.65698e-20	0.009535	1	0
ADAMTS2	9509	broad.mit.edu	37	5	178634557	178634557	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:178634557C>A	ENST00000251582.7	-	4	949	c.848G>T	c.(847-849)gGg>gTg	p.G283V	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G283V	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	283	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCTCCTTCCCGTGGAACTG	0.632000													45	61					1.21353e-23	1.90457e-23	0.003610	1	0
RABGGTA	5875	broad.mit.edu	37	14	24738879	24738879	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:24738879C>T	ENST00000399409.3	-	5	932	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	RABGGTA_ENST00000216840.6_Missense_Mutation_p.R150Q|RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	150					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGCCACAAACCGCCGATAGTC	0.582000													11	21					0	0	0.001368	0	0
PAPPA2	60676	broad.mit.edu	37	1	176664879	176664879	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:176664879C>A	ENST00000367662.3	+	7	3794	c.2630C>A	c.(2629-2631)tCa>tAa	p.S877*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	877					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCCAGGGCCTCAGGCAGCTTG	0.537000													89	52					6.09681e-45	1.06812e-44	0.003610	1	0
NAP1L2	4674	broad.mit.edu	37	X	72434052	72434052	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chrX:72434052C>A	ENST00000373517.3	-	1	632	c.277G>T	c.(277-279)Ggt>Tgt	p.G93C	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	93					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AAAACATAACCGATAAGTCCT	0.448000													42	19					2.54354e-34	4.25807e-34	0.009718	1	0
HEBP1	50865	broad.mit.edu	37	12	13140126	13140126	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:13140126C>T	ENST00000536942.1	-	3	508	c.358G>A	c.(358-360)Gtt>Att	p.V120I	HEBP1_ENST00000014930.4_Missense_Mutation_p.V120I			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	120					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCAATCTTAACGCTTTTGTCA	0.488000													20	142					0	0	0.010504	0	0
ZNF653	115950	broad.mit.edu	37	19	11594670	11594670	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:11594670C>G	ENST00000293771.5	-	9	1811	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						CCACAGATCTCGCACCTGCCG	0.701000													3	7					0	0	0.001168	0	0
EHBP1	23301	broad.mit.edu	37	2	62974575	62974575	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:62974575G>A	ENST00000263991.5	+	3	632	c.150G>A	c.(148-150)agG>agA	p.R50R	EHBP1_ENST00000405015.3_Silent_p.R50R|EHBP1_ENST00000354487.3_Silent_p.R50R|EHBP1_ENST00000405289.1_Silent_p.R50R|EHBP1_ENST00000431489.1_Silent_p.R50R	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	50						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			GAAGCCGAAGGAAGTCTTCTA	0.299000													18	83					0	0	0.010504	0	0
DHX30	22907	broad.mit.edu	37	3	47887703	47887703	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:47887703G>A	ENST00000446256.2	+	12	1596	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	DHX30_ENST00000457607.1_Missense_Mutation_p.D409N|DHX30_ENST00000348968.4_Missense_Mutation_p.D353N|DHX30_ENST00000445061.1_Missense_Mutation_p.D381N	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	381						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTGCAGAGTGATGACATCTT	0.542000													28	126					0	0	0.004656	0	0
SDHA	6389	broad.mit.edu	37	5	256470	256470	+	Missense_Mutation	SNP	G	G	T	rs3211483		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:256470G>T	ENST00000264932.6	+	15	2045	c.1930G>T	c.(1930-1932)Gtg>Ttg	p.V644L	SDHA_ENST00000510361.1_Missense_Mutation_p.V596L|SDHA_ENST00000504309.1_Missense_Mutation_p.V563L|SDHA_ENST00000507522.1_3'UTR	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428000									Familial Paragangliomas				7	101					0.00307968	0.00339516	0.003080	1	0
GP6	51206	broad.mit.edu	37	19	55543711	55543711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:55543711C>A	ENST00000310373.3	-	3	148	c.121G>T	c.(121-123)Gag>Tag	p.E41*	CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Nonsense_Mutation_p.E41*|GP6_ENST00000417454.1_Nonsense_Mutation_p.E41*|CTC-550B14.7_ENST00000593060.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	41	Ig-like C2-type 1.				enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		ACTGGCTTCTCCAGGGGCACC	0.682000													17	14					9.16793e-09	1.11997e-08	0.004990	1	0
SIRPG	55423	broad.mit.edu	37	20	1617082	1617082	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr20:1617082G>T	ENST00000381580.1	-	3	580	c.401C>A	c.(400-402)aCc>aAc	p.T134N	SIRPG_ENST00000381583.2_Missense_Mutation_p.T167N|SIRPG_ENST00000216927.4_Missense_Mutation_p.T167N|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.T167N|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	167	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGACTCACAGGTGAAACTCAC	0.542000													41	81					2.66277e-13	3.66942e-13	0.006999	1	0
TAS2R9	50835	broad.mit.edu	37	12	10962433	10962433	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:10962433A>G	ENST00000240691.2	-	1	334	c.242T>C	c.(241-243)cTa>cCa	p.L81P		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	81					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATGCTTACTAGCACGCTATT	0.398000													52	52					0	0	0.003610	0	0
ASNS	440	broad.mit.edu	37	7	97488526	97488526	+	Splice_Site	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:97488526T>G	ENST00000175506.4	-	6	1200	c.673_splice	c.e6+1	p.P224_splice	ASNS_ENST00000394308.3_Splice_Site_p.P224_splice|ASNS_ENST00000437628.1_Splice_Site_p.P141_splice|ASNS_ENST00000455086.1_Splice_Site_p.P141_splice|ASNS_ENST00000444334.1_Splice_Site_p.P203_splice|ASNS_ENST00000422745.1_Splice_Site_p.P203_splice|ASNS_ENST00000394309.3_Splice_Site_p.P224_splice	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	224	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GTCTGCTACCTGGAAAGAGTT	0.433000													11	64					0	0	0.001855	0	0
MYOC	4653	broad.mit.edu	37	1	171621320	171621320	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:171621320G>T	ENST00000037502.5	-	1	491	c.432C>A	c.(430-432)aaC>aaA	p.N144K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	144					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTCGGAGGAGGTTGCTGTAGG	0.582000													33	139					3.80469e-20	5.65698e-20	0.009535	1	0
AKAP6	9472	broad.mit.edu	37	14	33291383	33291383	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:33291383G>C	ENST00000280979.4	+	13	4534	c.4364G>C	c.(4363-4365)gGa>gCa	p.G1455A	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1455					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTGTTTGGGAGAAGAATTA	0.363000													24	38					0	0	0.002780	0	0
SPTA1	6708	broad.mit.edu	37	1	158653173	158653173	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:158653173G>A	ENST00000368148.3	-	3	558	c.378C>T	c.(376-378)caC>caT	p.H126H	SPTA1_ENST00000368147.3_Silent_p.H126H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	126				Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCGTTTCTTCGTGGGCAGAAT	0.383000													80	50					0	0	0.003610	0	0
FES	2242	broad.mit.edu	37	15	91437239	91437239	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr15:91437239C>T	ENST00000328850.3	+	18	2419	c.2277C>T	c.(2275-2277)tcC>tcT	p.S759S	FES_ENST00000450438.2_Silent_p.S631S|FES_ENST00000444422.2_Silent_p.S689S|FES_ENST00000394300.3_Silent_p.S701S|FES_ENST00000414248.2_Silent_p.S631S|FES_ENST00000394302.1_Silent_p.S618S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	759	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGGGGGCCTCCCCCTATCCCA	0.607000													84	136					0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100677571	100677571	+	Silent	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:100677571T>A	ENST00000306151.4	+	3	2938	c.2874T>A	c.(2872-2874)tcT>tcA	p.S958S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	958	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGACCACTTCTACTGAAGCCA	0.502000													42	518					0	0	0.003610	0	0
LEFTY1	10637	broad.mit.edu	37	1	226074602	226074602	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:226074602G>A	ENST00000272134.5	-	4	1005	c.926C>T	c.(925-927)cCg>cTg	p.P309L	RP4-559A3.7_ENST00000432920.2_3'UTR	NM_020997.3	NP_066277.1	O75610	LFTY1_HUMAN	left-right determination factor 1	309					cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	10	Breast(184;0.197)					CCCCAGAAACGGCCACTTGAA	0.667000													4	35					0	0	0.009096	0	0
CTBP1-AS2	92070	broad.mit.edu	37	4	1244578	1244578	+	RNA	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr4:1244578A>G	ENST00000581398.1	+	0	532				CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA	NR_033339.1																						TAATGGAGAGACTTCTGGGGA	0.562000													23	30					0	0	0.002299	0	0
FAM3C	10447	broad.mit.edu	37	7	120991242	120991242	+	Silent	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:120991242G>C	ENST00000359943.3	-	9	762	c.549C>G	c.(547-549)gtC>gtG	p.V183V		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	183					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					CACCACAGAAGACCCAGTTGT	0.428000													24	60					0	0	0.002780	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538535	27538535	+	RNA	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:27538535G>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCTCCGTAGTGGGTTCTGGAG	0.498000													90	131					9.24773e-40	1.60768e-39	0.003610	1	0
TNFSF14	8740	broad.mit.edu	37	19	6664944	6664944	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:6664944A>G	ENST00000326176.9	-	5	989	c.608T>C	c.(607-609)aTg>aCg	p.M203T	TNFSF14_ENST00000599359.1_Missense_Mutation_p.M239T|TNFSF14_ENST00000245912.3_Missense_Mutation_p.M203T	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	239					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCTTCACACCATGAAAGCCCC	0.582000													55	40					0	0	0.003610	0	0
TLL1	7092	broad.mit.edu	37	4	166935588	166935588	+	Splice_Site	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr4:166935588G>T	ENST00000061240.2	+	8	1565	c.917_splice	c.e8-1	p.R306_splice	TLL1_ENST00000507499.1_Splice_Site_p.R306_splice|TLL1_ENST00000513213.1_Splice_Site_p.R306_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	306	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTTTTCAGGGGGATGTTTC	0.413000													29	116					2.2171e-23	3.45562e-23	0.009535	1	0
SFTPA1	653509	broad.mit.edu	37	10	81372125	81372125	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:81372125G>T	ENST00000398636.3	+	4	368	c.230G>T	c.(229-231)gGa>gTa	p.G77V	SFTPA1_ENST00000428376.2_Missense_Mutation_p.G77V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G18V|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G77V|SFTPA1_ENST00000419470.2_Missense_Mutation_p.G92V	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	77	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			GGGCTGCCTGGAGCCCCTGGT	0.612000													71	130					8.13855e-26	1.30448e-25	0.003610	1	0
RTN1	6252	broad.mit.edu	37	14	60194384	60194384	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:60194384G>T	ENST00000267484.5	-	3	1353	c.1018C>A	c.(1018-1020)Cca>Aca	p.P340T		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	340					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GCAGCAGATGGTTCTGTCGTC	0.527000													7	11					8.12818e-05	9.09391e-05	0.001984	1	0
SNCB	6620	broad.mit.edu	37	5	176056582	176056582	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:176056582C>A	ENST00000310112.3	-	3	324	c.74G>T	c.(73-75)gGg>gTg	p.G25V	SNCB_ENST00000506696.1_Missense_Mutation_p.G25V|SNCB_ENST00000510387.1_Missense_Mutation_p.G25V|SNCB_ENST00000393693.2_Missense_Mutation_p.G25V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	25	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).						calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGGTGACCCCCTGCTTGGT	0.672000													7	14					0.00448238	0.00491756	0.004482	1	0
GABRA6	2559	broad.mit.edu	37	5	161116287	161116287	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:161116287G>T	ENST00000523217.1	+	5	686	c.444G>T	c.(442-444)atG>atT	p.M148I	GABRA6_ENST00000274545.5_Missense_Mutation_p.M158I|RP11-348M17.2_ENST00000521984.1_RNA	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	158					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACTGTCCCATGAGGCTGGTTA	0.408000										TCGA Ovarian(5;0.080)			40	39					2.35958e-20	3.55511e-20	0.009718	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:25398285C>A	ENST00000311936.3	-	2	225	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			12	22					1.49906e-05	1.68551e-05	0.002450	1	0
HIST1H3B	8358	broad.mit.edu	37	6	26032019	26032019	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr6:26032019C>T	ENST00000244661.2	-	1	269	c.270G>A	c.(268-270)gtG>gtA	p.V90V		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	90					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						GCAGCGCCATCACCGCAGAGC	0.557000													21	70					0	0	0.001882	0	0
TDRD3	81550	broad.mit.edu	37	13	61103023	61103023	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr13:61103023A>G	ENST00000196169.3	+	11	2173	c.1385A>G	c.(1384-1386)aAt>aGt	p.N462S	TDRD3_ENST00000377894.2_Missense_Mutation_p.N462S|TDRD3_ENST00000377881.2_Missense_Mutation_p.N462S|TDRD3_ENST00000535286.1_Missense_Mutation_p.N555S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	462					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CAAACAATAAATAATGAAGCT	0.284000													34	19					0	0	0.002836	0	0
MAP3K3	4215	broad.mit.edu	37	17	61769133	61769133	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr17:61769133C>A	ENST00000361357.3	+	15	1796	c.1478C>A	c.(1477-1479)aCa>aAa	p.T493K	MAP3K3_ENST00000579585.1_Missense_Mutation_p.T493K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T458K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T462K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.T489K	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	462	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGTGCTCTGACAGAGAGCGTG	0.597000													40	157					1.32136e-16	1.91427e-16	0.008740	1	0
DHX57	90957	broad.mit.edu	37	2	39088534	39088534	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:39088534C>A	ENST00000295373.6	-	5	1144	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	DHX57_ENST00000479345.2_5'UTR	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	340							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGATGAGAATCATCTACACTT	0.343000													14	28					9.31168e-06	1.05222e-05	0.001855	1	0
DHX30	22907	broad.mit.edu	37	3	47887871	47887871	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:47887871G>A	ENST00000446256.2	+	12	1764	c.1192G>A	c.(1192-1194)Gac>Aac	p.D398N	DHX30_ENST00000457607.1_Missense_Mutation_p.D465N|DHX30_ENST00000348968.4_Missense_Mutation_p.D409N|DHX30_ENST00000445061.1_Missense_Mutation_p.D437N	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	437						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTACCTGTGGACCCACATCG	0.657000													13	60					0	0	0.002450	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72489080	72489080	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:72489080G>C	ENST00000373208.1	+	5	901	c.901G>C	c.(901-903)Ggg>Cgg	p.G301R	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G301R	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	301	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGTCCCTGGGGGTTCATAT	0.488000													26	52					0	0	0.008361	0	0
ZNF521	25925	broad.mit.edu	37	18	22804959	22804959	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr18:22804959T>C	ENST00000361524.3	-	4	3071	c.2923A>G	c.(2923-2925)Act>Gct	p.T975A	ZNF521_ENST00000538137.2_Missense_Mutation_p.T975A|ZNF521_ENST00000584787.1_Missense_Mutation_p.T755A	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	975					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)					TTGTGTTCAGTAAGAGTTAAA	0.483000			T	PAX5	ALL								41	78					0	0	0.002852	0	0
COPS5	10987	broad.mit.edu	37	8	67974210	67974210	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr8:67974210T>C	ENST00000357849.4	-	1	342	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	8					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTCTGGGCCATACCGCTCCCG	0.537000													45	164					0	0	0.002852	0	0
ROBO1	6091	broad.mit.edu	37	3	78685076	78685076	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:78685076C>A	ENST00000436010.2	-	21	4100	c.3103G>T	c.(3103-3105)Gcc>Tcc	p.A1035S	ROBO1_ENST00000495273.1_Missense_Mutation_p.A1029S|ROBO1_ENST00000467549.1_Missense_Mutation_p.A974S|ROBO1_ENST00000464233.1_Missense_Mutation_p.A1074S			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1074					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGAGTGGTGGCGTAAGGAGTA	0.488000													18	69					3.62473e-10	4.55105e-10	0.001882	1	0
UMODL1	89766	broad.mit.edu	37	21	43491428	43491428	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr21:43491428G>A	ENST00000408989.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I	UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408910.2_Start_Codon_SNP_p.M1I|UMODL1_ENST00000400427.1_Intron	NM_173568.3	NP_775839.3	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCGGACGATGCTCAGGACCT	0.662000													6	10					0	0	0.001168	0	0
RFX6	222546	broad.mit.edu	37	6	117248302	117248302	+	Silent	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr6:117248302A>C	ENST00000332958.2	+	17	2014	c.1998A>C	c.(1996-1998)ccA>ccC	p.P666P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	666					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GGAGGCCCCCAAGTGTGGGCC	0.522000													58	42					0	0	0.003610	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630302	51630302	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:51630302G>T	ENST00000440804.3	+	4	831	c.764G>T	c.(763-765)gGa>gTa	p.G255V	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G255V	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	255	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			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)		ACAGTCTTGGGAAATGGCTCA	0.507000													22	70					5.26018e-13	7.20485e-13	0.001882	1	0
FLG	2312	broad.mit.edu	37	1	152280910	152280910	+	Missense_Mutation	SNP	C	C	T	rs146106776		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:152280910C>T	ENST00000368799.1	-	3	6487	c.6452G>A	c.(6451-6453)gGg>gAg	p.G2151E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2151	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGGTGGGACCCCTGTCTTCC	0.582000									Ichthyosis				293	186					0	0	0.003610	0	0
KDM5B	10765	broad.mit.edu	37	1	202733256	202733256	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:202733256T>C	ENST00000367265.3	-	6	1893	c.729A>G	c.(727-729)atA>atG	p.I243M	KDM5B_ENST00000367264.2_Missense_Mutation_p.I279M	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	243					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCTCGGGTTCTATTTTAATAT	0.333000													10	55					0	0	0.000978	0	0
DENND4A	10260	broad.mit.edu	37	15	65983463	65983463	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr15:65983463C>A	ENST00000443035.3	-	23	3681	c.3466G>T	c.(3466-3468)Gat>Tat	p.D1156Y	DENND4A_ENST00000431932.2_Missense_Mutation_p.D1113Y	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TCCACTTTATCTGCCAAATAG	0.363000													9	22					2.74318e-10	3.48291e-10	0.006214	1	0
XDH	7498	broad.mit.edu	37	2	31602826	31602826	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:31602826G>A	ENST00000379416.3	-	13	1197	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	383	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGTCCATCTGGACAGTTCTCC	0.552000													36	51					0	0	0.006230	0	0
GTF3C4	9329	broad.mit.edu	37	9	135553983	135553983	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:135553983G>A	ENST00000372146.4	+	2	1541	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	326					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CACAATAATCGAAAAATGAGT	0.413000													98	34					0	0	0.003610	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874354	31874354	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr21:31874354C>A	ENST00000334151.2	-	1	81	c.55G>T	c.(55-57)Gat>Tat	p.D19Y		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	19						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CCCAGGTCATCGAAGCCTCCG	0.587000													47	69					1.61863e-15	2.30069e-15	0.003610	1	0
KRT37	8688	broad.mit.edu	37	17	39579093	39579093	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr17:39579093G>T	ENST00000225550.3	-	3	668	c.669C>A	c.(667-669)gaC>gaA	p.D223E	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	223	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGGCCTCCAGGTCGGCCTTGG	0.667000													37	30					4.00102e-26	6.50525e-26	0.006230	1	0
KIFAP3	22920	broad.mit.edu	37	1	170015993	170015993	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:170015993C>A	ENST00000367765.1	-	3	1560	c.59G>T	c.(58-60)aGt>aTt	p.S20I	KIFAP3_ENST00000367767.1_Missense_Mutation_p.S16I|KIFAP3_ENST00000361580.2_Missense_Mutation_p.S60I|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	60					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGCATTGAGACTCTTAAGTCG	0.313000													42	26					6.1244e-12	8.19003e-12	0.007835	1	0
SLITRK1	114798	broad.mit.edu	37	13	84454777	84454777	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr13:84454777G>A	ENST00000377084.2	-	1	1751	c.866C>T	c.(865-867)cCt>cTt	p.P289L		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289						integral to membrane		p.P289H(1)|p.P289L(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTCTTGAAAGGAGTTGGCAG	0.537000													12	15					0	0	0.000978	0	0
CRB2	286204	broad.mit.edu	37	9	126125191	126125191	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:126125191G>A	ENST00000373631.3	+	2	143	c.142G>A	c.(142-144)Gct>Act	p.A48T	CRB2_ENST00000359999.3_Missense_Mutation_p.A48T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	48						extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						AGACCCGTGCGCTCCAGGGAC	0.647000													92	21					0	0	0.003610	0	0
RHOH	399	broad.mit.edu	37	4	40245368	40245368	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr4:40245368G>T	ENST00000381799.4	+	3	1086	c.362G>T	c.(361-363)cGg>cTg	p.R121L	RHOH_ENST00000505618.1_Missense_Mutation_p.R121L	NM_001278363.1|NM_001278365.1|NM_004310.3	NP_001265292.1|NP_001265294.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H	121					negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						ACTGACCAGCGGGAGATGGGG	0.567000													8	23					5.18039e-06	5.88326e-06	0.003080	1	0
TECRL	253017	broad.mit.edu	37	4	65188467	65188467	+	Silent	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr4:65188467T>A	ENST00000381210.3	-	4	485	c.375A>T	c.(373-375)gcA>gcT	p.A125A	TECRL_ENST00000507440.1_Silent_p.A125A	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	125					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGGAGGAAGCTGCAATACTTT	0.318000													7	25					0	0	0.003080	0	0
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V		NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway	extracellular region		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692000													3	22					0	0	0.004672	0	0
HOXA13	3209	broad.mit.edu	37	7	27238817	27238817	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:27238817C>A	ENST00000222753.4	-	1	908	c.880G>T	c.(880-882)Gag>Tag	p.E294*	HOTTIP_ENST00000421733.1_RNA	NM_000522.4	NP_000513.2	P31271	HXA13_HUMAN	homeobox A13	294					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						TGCGCCTGCTCTTTGGGGCAG	0.637000			T	NUP98	AML								15	31					4.7546e-09	5.87181e-09	0.004007	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68274527	68274527	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:68274527C>A	ENST00000347230.4	-	5	612	c.474G>T	c.(472-474)tgG>tgT	p.W158C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.W158C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	158					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TCAGGAGATCCCAGAGCACAG	0.602000													69	62					5.80444e-35	9.78957e-35	0.003610	1	0
REG3G	130120	broad.mit.edu	37	2	79255050	79255050	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:79255050A>G	ENST00000272324.5	+	5	635	c.451A>G	c.(451-453)Aga>Gga	p.R151G	REG3G_ENST00000409471.1_Missense_Mutation_p.R105G|REG3G_ENST00000393897.2_Missense_Mutation_p.R151G	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	151	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAGCCTGTCAAGAAGCACAGG	0.478000													37	47					0	0	0.006999	0	0
ARNT2	9915	broad.mit.edu	37	15	80847406	80847406	+	Splice_Site	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr15:80847406G>C	ENST00000533983.1	+	12	1396	c.1056_splice	c.e12-1	p.D353_splice	RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Splice_Site_p.D353_splice|ARNT2_ENST00000303329.4_Splice_Site_p.D364_splice			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	364	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TTTTATTTAGGATCTTCTGGG	0.398000													33	97					0	0	0.002836	0	0
PRDM9	56979	broad.mit.edu	37	5	23522875	23522875	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:23522875C>A	ENST00000296682.3	+	8	945	c.763C>A	c.(763-765)Cag>Aag	p.Q255K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	255	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGGCATCCCTCAGGCTGGGCT	0.572000										HNSCC(3;0.000094)			19	31					2.37509e-13	3.29307e-13	0.010504	1	0
RBFOX1	54715	broad.mit.edu	37	16	7383079	7383079	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr16:7383079G>T	ENST00000340209.4	+	1	329	c.32G>T	c.(31-33)gGa>gTa	p.G11V	RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G26V|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G26V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G26V|RBFOX1_ENST00000535565.2_Intron			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	0					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACCTTCCTGGACTGATTCAG	0.453000													39	55					3.33393e-15	4.70918e-15	0.004878	1	0
SLC29A3	55315	broad.mit.edu	37	10	73082704	73082704	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:73082704C>T	ENST00000373189.5	+	2	245	c.193C>T	c.(193-195)Cta>Tta	p.L65L		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	65					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATTGGCAGTCTACTGCCATG	0.597000													5	78					0	0	0.001168	0	0
SMAD4	4089	broad.mit.edu	37	18	48581339	48581339	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr18:48581339C>T	ENST00000342988.3	+	5	1181	c.643C>T	c.(643-645)Ccc>Tcc	p.P215S	RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.P215S|SMAD4_ENST00000398417.2_Missense_Mutation_p.P215S	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	215					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGCCAACTTTCCCAACATTCC	0.463000													49	37					0	0	0.003610	0	0
ZNF43	7594	broad.mit.edu	37	19	22018896	22018896	+	Translation_Start_Site	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:22018896G>T	ENST00000354959.4	-	0	114				ZNF43_ENST00000594012.1_Intron|ZNF43_ENST00000598288.1_Intron|ZNF43_ENST00000598381.1_Intron|ZNF43_ENST00000595461.1_Intron	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AATACCCGCAGGTCACAGAGC	0.622000													13	38					1.61879e-10	2.07868e-10	0.001368	1	0
FAM208B	54906	broad.mit.edu	37	10	5790473	5790473	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:5790473G>T	ENST00000328090.5	+	15	5714	c.5089G>T	c.(5089-5091)Ggt>Tgt	p.G1697C		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1697																	GCTTAAGAATGGTGAGCCTGA	0.458000													25	37					7.87624e-14	1.09878e-13	0.002780	1	0
GCM1	8521	broad.mit.edu	37	6	52993452	52993452	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr6:52993452T>A	ENST00000259803.7	-	6	1074	c.863A>T	c.(862-864)tAc>tTc	p.Y288F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	288						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					ATGATCAGAGTAGACTCCGGA	0.473000													21	36					0	0	0.010504	0	0
FAT2	2196	broad.mit.edu	37	5	150911504	150911504	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:150911504A>C	ENST00000261800.5	-	13	9467	c.9455T>G	c.(9454-9456)cTg>cGg	p.L3152R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3152	Cadherin 28.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAATCCGGCAGAGAGTAAAC	0.642000													16	50					0	0	0.004990	0	0
CNGA3	1261	broad.mit.edu	37	2	99012950	99012950	+	Silent	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:99012950G>T	ENST00000393504.1	+	8	1734	c.1317G>T	c.(1315-1317)cgG>cgT	p.R439R	CNGA3_ENST00000409937.1_Silent_p.R443R|CNGA3_ENST00000272602.2_Silent_p.R439R|CNGA3_ENST00000436404.2_Silent_p.R421R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	439			R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGGTTATCCGGTGGTTTGACT	0.547000													16	32					1.3612e-06	1.60225e-06	0.003163	1	0
C14orf159	80017	broad.mit.edu	37	14	91671070	91671070	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:91671070G>A	ENST00000518868.1	+	15	2155	c.1465G>A	c.(1465-1467)Gag>Aag	p.E489K	C14orf159_ENST00000256324.10_Missense_Mutation_p.E489K|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000428926.2_Missense_Mutation_p.E484K|C14orf159_ENST00000412671.2_Missense_Mutation_p.E489K|C14orf159_ENST00000523816.1_Missense_Mutation_p.E484K|C14orf159_ENST00000523771.1_Missense_Mutation_p.E484K|C14orf159_ENST00000522322.1_Missense_Mutation_p.E484K|C14orf159_ENST00000525393.2_Missense_Mutation_p.E360K			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	484						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGGAGGCAACGAGCTTGGGAT	0.602000													5	11					0	0	0.000602	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672000													14	12					0	0	0.002450	0	0
PAK1	5058	broad.mit.edu	37	11	77054934	77054934	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:77054934C>A	ENST00000356341.3	-	10	1459	c.928G>T	c.(928-930)Gag>Tag	p.E310*	PAK1_ENST00000278568.4_Nonsense_Mutation_p.E310*|PAK1_ENST00000530617.1_Nonsense_Mutation_p.E310*|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Nonsense_Mutation_p.E212*	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	310	Protein kinase.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					ATAATCAGCTCTTTCTTGGGC	0.428000													18	76					1.2644e-06	1.4961e-06	0.010504	1	0
SOX6	55553	broad.mit.edu	37	11	16010775	16010775	+	Splice_Site	SNP	T	T	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:16010775T>G	ENST00000352083.6	-	14	1811	c.1732_splice	c.e14-1	p.G578_splice	SOX6_ENST00000528252.1_Splice_Site_p.G551_splice|SOX6_ENST00000528429.1_Splice_Site_p.G578_splice|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000396356.3_Intron|SOX6_ENST00000527619.1_Splice_Site_p.G554_splice			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	578					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTGCTTTACTTCCTGTAATGT	0.502000											OREG0020800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	19					0	0	0.007413	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454778	84454778	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr13:84454778G>T	ENST00000377084.2	-	1	1750	c.865C>A	c.(865-867)Cct>Act	p.P289T		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	289						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCTTGAAAGGAGTTGGCAGG	0.542000													12	15					0.000978159	0.00108898	0.000978	1	0
FAM47B	170062	broad.mit.edu	37	X	34962130	34962130	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chrX:34962130G>T	ENST00000329357.5	+	1	1218	c.1182G>T	c.(1180-1182)atG>atT	p.M394I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	394								p.M394I(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGAGTCGGATGCCCCATCTCC	0.582000													24	5					1.1804e-14	1.65695e-14	0.003954	1	0
DPY19L2	283417	broad.mit.edu	37	12	64041052	64041052	+	Missense_Mutation	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:64041052G>C	ENST00000324472.4	-	5	865	c.682C>G	c.(682-684)Cct>Gct	p.P228A	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	228					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TCATTAAGAGGTTCTATTCTG	0.318000													19	39					0	0	0.010504	0	0
OR52E8	390079	broad.mit.edu	37	11	5878253	5878253	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:5878253A>G	ENST00000537935.1	-	1	711	c.680T>C	c.(679-681)cTg>cCg	p.L227P	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACAGCATACAGGATCCTGAC	0.453000													4	37					0	0	0.009096	0	0
SDHAP1	255812	broad.mit.edu	37	3	195690271	195690271	+	RNA	SNP	T	T	A	rs115852167	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:195690271T>A	ENST00000427841.1	-	0	2224					NR_003264.2																						TTGTCGATTATGGGTCTATAT	0.403000													11	36					0	0	0.006122	0	0
ZNF442	79973	broad.mit.edu	37	19	12461745	12461745	+	Silent	SNP	A	A	G	rs117398535	byFrequency	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:12461745A>G	ENST00000242804.4	-	6	1236	c.654T>C	c.(652-654)ttT>ttC	p.F218F	ZNF442_ENST00000438182.1_Silent_p.F149F	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAGGCCAAAAAAAGGCTTTCC	0.403000													5	107					0	0	0.000602	0	0
MAGI3	260425	broad.mit.edu	37	1	114189171	114189171	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:114189171A>G	ENST00000369615.1	+	12	2124	c.2062A>G	c.(2062-2064)Atg>Gtg	p.M688V	MAGI3_ENST00000369611.4_Missense_Mutation_p.M688V|MAGI3_ENST00000307546.9_Missense_Mutation_p.M688V|MAGI3_ENST00000369617.4_Missense_Mutation_p.M713V	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	713					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCAGCCTATGCCTTTTCC	0.373000													34	53					0	0	0.007835	0	0
CBFA2T3	863	broad.mit.edu	37	16	88967957	88967957	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr16:88967957C>T	ENST00000268679.4	-	2	655	c.259G>A	c.(259-261)Gca>Aca	p.A87T	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A26T|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A26T|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A87T	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	87	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCCTGGGATGCGGCAGGCGGT	0.697000			T	RUNX1	AML								12	19					0	0	0.001855	0	0
PCNXL2	80003	broad.mit.edu	37	1	233388166	233388166	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:233388166C>A	ENST00000258229.8	-	7	2296	c.2062G>T	c.(2062-2064)Ggg>Tgg	p.G688W	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	688						integral to membrane				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)				GTTTCAGGCCCACTGATGACT	0.388000													16	81					1.99824e-07	2.38943e-07	0.004990	1	0
HK3	3101	broad.mit.edu	37	5	176309050	176309050	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:176309050A>T	ENST00000292432.5	-	16	2223	c.2132T>A	c.(2131-2133)aTc>aAc	p.I711N		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	711	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATGTTGATGCACATGCG	0.627000													36	35					0	0	0.003271	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52941190	52941190	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:52941190T>A	ENST00000371544.3	-	13	2303	c.2041A>T	c.(2041-2043)Agg>Tgg	p.R681W	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R681W|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	681					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCAACATTCCTCTTGACTGAA	0.403000													8	16					0	0	0.004482	0	0
EIF4B	1975	broad.mit.edu	37	12	53427616	53427616	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:53427616C>G	ENST00000262056.9	+	9	1332	c.1006C>G	c.(1006-1008)Cta>Gta	p.L336V	EIF4B_ENST00000416762.3_Missense_Mutation_p.L297V|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.L336V	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	336					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAAACTGAATCTAAAGCCTCG	0.458000													13	40					0	0	0.001855	0	0
MYO1G	64005	broad.mit.edu	37	7	45010484	45010484	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:45010484T>A	ENST00000258787.7	-	8	1157	c.1021A>T	c.(1021-1023)Aag>Tag	p.K341*		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	341	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GTGTGGCCCTTCTCTATGAGT	0.662000													12	28					0	0	0.001855	0	0
MED27	9442	broad.mit.edu	37	9	134738450	134738450	+	Splice_Site	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:134738450C>A	ENST00000292035.5	-	7	864	c.801_splice	c.e7+1	p.M267_splice	MED27_ENST00000372184.3_Splice_Site_p.M231_splice|MED27_ENST00000357028.2_Splice_Site_p.M193_splice	NM_004269.3	NP_004260.2	Q6P2C8	MED27_HUMAN	mediator complex subunit 27	267					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleolus|transcription factor complex	protein binding|transcription coactivator activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	18		Myeloproliferative disorder(178;0.206)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193)		AGCCACTTACCATGAAGGATC	0.537000													24	8					4.72057e-08	5.67473e-08	0.003954	1	0
FGF8	2253	broad.mit.edu	37	10	103530295	103530295	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:103530295C>T	ENST00000347978.2	-	5	608	c.439G>A	c.(439-441)Gag>Aag	p.E147K	FGF8_ENST00000344255.3_Missense_Mutation_p.E165K|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.E136K|FGF8_ENST00000320185.2_Missense_Mutation_p.E176K	NM_006119.4	NP_006110.1	P55075	FGF8_HUMAN	fibroblast growth factor 8 (androgen-induced)	165					bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation	extracellular region|extracellular space	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TACCAGCCCTCGTACTTGGCA	0.627000													15	28					0	0	0.004990	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29710692	29710692	+	RNA	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:29710692G>T	ENST00000427063.2	+	0	1416				PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA	NR_003930.1																						CAGGTGTACAGGAGTGGGTTG	0.587000													4	4					0.00909568	0.00988281	0.009096	1	0
SIGLEC14	100049587	broad.mit.edu	37	19	52146834	52146834	+	Silent	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:52146834A>C	ENST00000360844.6	-	6	1145	c.1104T>G	c.(1102-1104)gcT>gcG	p.A368A	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	368					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GGAGGAAGCCAGCCCCCATGA	0.597000													26	40					0	0	0.004656	0	0
ASPM	259266	broad.mit.edu	37	1	197101446	197101446	+	Missense_Mutation	SNP	T	T	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:197101446T>C	ENST00000367409.4	-	7	2712	c.2456A>G	c.(2455-2457)tAc>tGc	p.Y819C	ASPM_ENST00000294732.7_Missense_Mutation_p.Y819C|ASPM_ENST00000367408.1_Missense_Mutation_p.Y69C	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	819					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CAAAGGATTGTAGGACAACAG	0.308000													22	45					0	0	0.005443	0	0
GDF6	392255	broad.mit.edu	37	8	97157010	97157010	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr8:97157010G>A	ENST00000287020.5	-	2	1248	c.1149C>T	c.(1147-1149)tgC>tgT	p.C383C		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	383					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ATACACCCTCGCAGTGATAGG	0.637000													8	27					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13864539	13864539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:13864539C>A	ENST00000265104.4	-	28	4667	c.4563G>T	c.(4561-4563)gaG>gaT	p.E1521D	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1521	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTGCCTCCATGATAT	0.408000									Kartagener syndrome				27	33					2.79863e-10	3.53347e-10	0.004656	1	0
OR4C16	219428	broad.mit.edu	37	11	55340174	55340174	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:55340174T>A	ENST00000314634.3	+	1	571	c.571T>A	c.(571-573)Tat>Aat	p.Y191N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TTCAGAAACCTATGTGGTTAA	0.438000													42	50					0	0	0.003610	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	31					0	0	0.004672	0	0
HPSE2	60495	broad.mit.edu	37	10	100481488	100481488	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:100481488C>A	ENST00000370552.3	-	5	941	c.882G>T	c.(880-882)cgG>cgT	p.R294R	HPSE2_ENST00000404542.1_Silent_p.R182R|HPSE2_ENST00000370546.1_Silent_p.R294R|HPSE2_ENST00000370549.1_Silent_p.R236R	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	294					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TGGAATAAATCCGGATGGGCT	0.493000													28	42					1.17739e-12	1.60296e-12	0.005443	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574220	140574220	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:140574220G>T	ENST00000239446.4	+	1	2279	c.2095G>T	c.(2095-2097)Gtg>Ttg	p.V699L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		699					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTGGCCTCGGTGTCTTCGCT	0.716000													21	62					1.36615e-20	2.07214e-20	0.002836	1	0
PACSIN3	29763	broad.mit.edu	37	11	47201066	47201066	+	Missense_Mutation	SNP	T	T	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:47201066T>A	ENST00000539589.1	-	7	1017	c.675A>T	c.(673-675)gaA>gaT	p.E225D	PACSIN3_ENST00000298838.6_Missense_Mutation_p.E225D	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	225					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CAAAGGCCTGTTCCATGTCCT	0.582000											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	0.010504	0	0
CPS1	1373	broad.mit.edu	37	2	211503873	211503873	+	Splice_Site	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:211503873G>T	ENST00000233072.5	+	23	3025		c.e23-1		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000497121.1_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						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			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)		TTCTCTTACAGATTGATACAC	0.303000													10	18					1.58986e-06	1.86171e-06	0.008291	1	0
ZNF816	125893	broad.mit.edu	37	19	53459280	53459280	+	Splice_Site	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:53459280C>A	ENST00000357666.4	-	3	363	c.63_splice	c.e3+1	p.Q21_splice	ZNF816_ENST00000434371.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000391786.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000438970.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000444460.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000270457.4_Splice_Site_p.Q21_splice|ZNF321P_ENST00000391777.3_Splice_Site_p.Q21_splice|ZNF816_ENST00000535506.1_Splice_Site_p.Q21_splice	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TATCACTTACCTGAGGAAGAG	0.428000													36	75					6.90743e-12	9.12911e-12	0.003755	1	0
SNCA	6622	broad.mit.edu	37	4	90756779	90756779	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr4:90756779C>T	ENST00000394989.2	-	2	302	c.40G>A	c.(40-42)Gga>Aga	p.G14R	SNCA_ENST00000420646.2_Missense_Mutation_p.G14R|SNCA_ENST00000394986.1_Missense_Mutation_p.G14R|SNCA_ENST00000502987.1_Missense_Mutation_p.G14R|SNCA_ENST00000345009.4_Missense_Mutation_p.G14R|SNCA_ENST00000394991.3_Missense_Mutation_p.G14R|SNCA_ENST00000508895.1_Missense_Mutation_p.G14R|SNCA_ENST00000336904.3_Missense_Mutation_p.G14R|SNCA_ENST00000505199.1_Missense_Mutation_p.G14R|SNCA_ENST00000506244.1_Missense_Mutation_p.G14R			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	14					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	GCCACAACTCCCTCCTTGGCC	0.423000													17	43					0	0	0.004990	0	0
FGFR2	2263	broad.mit.edu	37	10	123279634	123279634	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:123279634G>A	ENST00000358487.5	-	7	1070	c.798C>T	c.(796-798)gcC>gcT	p.A266A	FGFR2_ENST00000357555.5_Silent_p.A177A|FGFR2_ENST00000346997.2_Silent_p.A266A|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000351936.6_Silent_p.A266A|FGFR2_ENST00000457416.2_Silent_p.A266A|FGFR2_ENST00000369060.4_Silent_p.A266A|FGFR2_ENST00000360144.3_Silent_p.A177A|FGFR2_ENST00000356226.4_Silent_p.A151A|FGFR2_ENST00000369059.1_Silent_p.A151A|FGFR2_ENST00000478859.1_Silent_p.A38A|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Silent_p.A266A	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	266	Ig-like C2-type 3.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CCACTGTGGAGGCATTTGCCG	0.577000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	43					0	0	0.000602	0	0
STK11	6794	broad.mit.edu	37	19	1220715	1220715	+	Splice_Site	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:1220715C>T	ENST00000326873.7	+	5	1906	c.734_splice	c.e5+1	p.L245_splice		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	245	Protein kinase.		L -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGGTCACCCTGTAAGTGCC	0.706000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			17	9					0	0	0.010504	0	0
DCAF6	55827	broad.mit.edu	37	1	168032861	168032861	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:168032861G>T	ENST00000367840.3	+	18	2397	c.2303G>T	c.(2302-2304)cGc>cTc	p.R768L	DCAF6_ENST00000432587.2_Missense_Mutation_p.R737L|DCAF6_ENST00000312263.6_Missense_Mutation_p.R677L|DCAF6_ENST00000367843.3_Missense_Mutation_p.R697L	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	677					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TCATATAGACGCTCTGCTGTT	0.299000													6	9					5.9392e-07	7.06452e-07	0.001168	1	0
DHX30	22907	broad.mit.edu	37	3	47887817	47887817	+	Missense_Mutation	SNP	G	G	C	rs71328953		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:47887817G>C	ENST00000446256.2	+	12	1710	c.1138G>C	c.(1138-1140)Gaa>Caa	p.E380Q	DHX30_ENST00000457607.1_Missense_Mutation_p.E447Q|DHX30_ENST00000348968.4_Missense_Mutation_p.E391Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E419Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	419						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGTCTGCTAGAACTGTGGCG	0.632000													23	86					0	0	0.002780	0	0
DNAH10	196385	broad.mit.edu	37	12	124414242	124414242	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:124414242C>T	ENST00000409039.3	+	71	12219	c.12194C>T	c.(12193-12195)aCg>aTg	p.T4065M	DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4065					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T4065M(1)|p.T2657M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACGTACTTAACGAAAGCCTTC	0.507000													4	23					0	0	0.009096	0	0
LAMB1	3912	broad.mit.edu	37	7	107615715	107615715	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:107615715A>G	ENST00000393561.1	-	9	1589	c.1405T>C	c.(1405-1407)Tat>Cat	p.Y469H	LAMB1_ENST00000393560.1_Missense_Mutation_p.Y445H|LAMB1_ENST00000222399.6_Missense_Mutation_p.Y445H			P07942	LAMB1_HUMAN	laminin, beta 1	445	Laminin EGF-like 4.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTAAATCATAGAAGCCTTCT	0.363000													36	58					0	0	0.002522	0	0
ANO6	196527	broad.mit.edu	37	12	45725191	45725191	+	Silent	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:45725191A>C	ENST00000320560.8	+	3	466	c.264A>C	c.(262-264)acA>acC	p.T88T	ANO6_ENST00000425752.2_Silent_p.T88T|ANO6_ENST00000441606.2_Silent_p.T70T|ANO6_ENST00000423947.3_Silent_p.T109T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.T88T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	88					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						AAAAGGGTACAAATGAAAAAC	0.299000													13	24					0	0	0.002450	0	0
COL2A1	1280	broad.mit.edu	37	12	48387269	48387269	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:48387269G>A	ENST00000380518.3	-	15	1105	c.941C>T	c.(940-942)cCg>cTg	p.P314L	COL2A1_ENST00000337299.6_Missense_Mutation_p.P245L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	314	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GTTCTCACCCGGGGAACCACT	0.542000													7	35					0	0	0.001984	0	0
LILRB4	11006	broad.mit.edu	37	19	55175722	55175722	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:55175722G>A	ENST00000391736.1	+	6	756	c.441G>A	c.(439-441)cgG>cgA	p.R147R	LILRB4_ENST00000391733.3_Silent_p.R147R|LILRB4_ENST00000430952.2_Silent_p.R147R|LILRB4_ENST00000391734.3_Silent_p.R147R|LILRB4_ENST00000270452.2_Silent_p.R147R	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	147	Ig-like C2-type 2.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GTCAGTCACGGAGCCCAATGG	0.572000													36	71					0	0	0.003271	0	0
PHF21B	112885	broad.mit.edu	37	22	45309877	45309877	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr22:45309877G>T	ENST00000313237.5	-	5	806	c.656C>A	c.(655-657)tCa>tAa	p.S219*	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	219							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		aggggacagtgatggggaggg	0.647000													24	30					1.10923e-09	1.38501e-09	0.002780	1	0
TXLNB	167838	broad.mit.edu	37	6	139591688	139591688	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr6:139591688C>A	ENST00000358430.3	-	4	824	c.592G>T	c.(592-594)Gac>Tac	p.D198Y		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	198						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		TGTAACTGGTCCTTTTCTTTT	0.443000													28	18					8.24728e-16	1.17967e-15	0.004656	1	0
NLRP7	199713	broad.mit.edu	37	19	55453058	55453058	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:55453058A>T	ENST00000446217.1	-	4	508	c.106T>A	c.(106-108)Tgg>Agg	p.W36R	NLRP7_ENST00000448121.2_Missense_Mutation_p.W8R|NLRP7_ENST00000328092.5_Missense_Mutation_p.W8R|NLRP7_ENST00000340844.2_Missense_Mutation_p.W8R|NLRP7_ENST00000592784.1_Missense_Mutation_p.W8R|NLRP7_ENST00000590030.1_Missense_Mutation_p.W8R|NLRP7_ENST00000588756.1_Missense_Mutation_p.W8R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	8	DAPIN.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGCAGAGTCCACTCTAGCTGG	0.478000													18	23					0	0	0.007413	0	0
MUC6	4588	broad.mit.edu	37	11	1025300	1025300	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:1025300C>G	ENST00000421673.2	-	23	2917	c.2867G>C	c.(2866-2868)gGg>gCg	p.G956A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	956	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCGTCACCCCGAGCTGCAC	0.642000													10	51					0	0	0.006214	0	0
ZMAT3	64393	broad.mit.edu	37	3	178785396	178785396	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:178785396C>T	ENST00000311417.2	-	2	886	c.145G>A	c.(145-147)Ggg>Agg	p.G49R	ZMAT3_ENST00000432729.1_Missense_Mutation_p.G49R	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	49					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TCTTCTTCCCCTGCAAGAGGC	0.557000													39	26					0	0	0.004289	0	0
MYH13	8735	broad.mit.edu	37	17	10212750	10212750	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr17:10212750G>A	ENST00000418404.3	-	34	5133	c.4970C>T	c.(4969-4971)tCc>tTc	p.S1657F	MYH13_ENST00000252172.4_Missense_Mutation_p.S1657F|MYH13_ENST00000570743.1_Missense_Mutation_p.S1657F			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1657					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATGCAGCTGGGAGTCCTGCAG	0.672000													3	9					0	0	0.004672	0	0
KLF11	8462	broad.mit.edu	37	2	10186425	10186425	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:10186425G>A	ENST00000535335.1	+	2	356	c.140G>A	c.(139-141)gGt>gAt	p.G47D	KLF11_ENST00000540845.1_Missense_Mutation_p.G47D|KLF11_ENST00000305883.1_Missense_Mutation_p.G64D	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	64					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TCCCAGAAAGGTGACCTGTTG	0.527000													17	24					0	0	0.006122	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798727	140798727	+	Missense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:140798727C>T	ENST00000398594.2	+	1	1301	c.1301C>T	c.(1300-1302)tCc>tTc	p.S434F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGTTATCCTCCAGCAAAACC	0.552000													5	41					0	0	0.001168	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136650	40136650	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:40136650G>T	ENST00000278198.2	-	2	3156	c.1193C>A	c.(1192-1194)gCg>gAg	p.A398E	LRRC4C_ENST00000530763.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A398E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	398	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACTTTGTACGCCCCATGTGT	0.463000													55	87					4.32865e-36	7.41117e-36	0.003610	1	0
USH2A	7399	broad.mit.edu	37	1	216062172	216062172	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:216062172C>A	ENST00000366943.2	-	41	8205	c.7819G>T	c.(7819-7821)Gga>Tga	p.G2607*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.G2607*|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2607	Fibronectin type-III 12.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGGAACATCCTTTTGAAGTG	0.473000										HNSCC(13;0.011)			62	37					5.19286e-32	8.56632e-32	0.003610	1	0
CASQ1	844	broad.mit.edu	37	1	160171074	160171074	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:160171074C>T	ENST00000368079.3	+	11	1356	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	CASQ1_ENST00000368078.3_Silent_p.L367L|CASQ1_ENST00000467691.1_Silent_p.L88L	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	367	Asp-rich.					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGGAGGACCTGCCTTCTGC	0.547000													14	9					0	0	0.003163	0	0
FAM3C	10447	broad.mit.edu	37	7	120991230	120991230	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:120991230C>A	ENST00000359943.3	-	9	774	c.561G>T	c.(559-561)ggG>ggT	p.G187G		NM_001040020.1|NM_014888.2	NP_001035109.1|NP_055703.1	Q92520	FAM3C_HUMAN	family with sequence similarity 3, member C	187					multicellular organismal development	cytoplasmic membrane-bounded vesicle|extracellular region	cytokine activity			kidney(1)|lung(8)	9	all_neural(327;0.117)					TAATGCCCTTCCCACCACAGA	0.418000													26	64					2.16457e-27	3.54488e-27	0.008361	1	0
PTPRB	5787	broad.mit.edu	37	12	71029742	71029742	+	Missense_Mutation	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:71029742A>G	ENST00000334414.6	-	2	204	c.160T>C	c.(160-162)Tgg>Cgg	p.W54R	PTPRB_ENST00000550358.1_Missense_Mutation_p.W54R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.W53R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 1.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCTCAGTCCACATCCACTGC	0.512000													8	14					0	0	0.004482	0	0
CRTAC1	55118	broad.mit.edu	37	10	99664469	99664469	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:99664469C>A	ENST00000370597.3	-	7	1308	c.953G>T	c.(952-954)cGc>cTc	p.R318L	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R318L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R318L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	318						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CAGATAGAGGCGGTGGGGGCC	0.597000													39	73					1.8453e-21	2.81782e-21	0.002522	1	0
CAMK2B	816	broad.mit.edu	37	7	44283039	44283039	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:44283039G>T	ENST00000395749.2	-	7	578	c.502C>A	c.(502-504)Cag>Aag	p.Q168K	CAMK2B_ENST00000440254.2_Missense_Mutation_p.Q168K|CAMK2B_ENST00000353625.4_Missense_Mutation_p.Q168K|CAMK2B_ENST00000350811.3_Missense_Mutation_p.Q168K|CAMK2B_ENST00000395747.2_Missense_Mutation_p.Q168K|CAMK2B_ENST00000346990.4_Missense_Mutation_p.Q168K|CAMK2B_ENST00000502837.2_Missense_Mutation_p.Q39K|CAMK2B_ENST00000347193.4_Missense_Mutation_p.Q168K|CAMK2B_ENST00000358707.3_Missense_Mutation_p.Q168K|CAMK2B_ENST00000258682.6_Missense_Mutation_p.Q168K|CAMK2B_ENST00000457475.1_Missense_Mutation_p.Q168K	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	168	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						CATGCCTGCTGGTCCCCCTGC	0.632000													20	51					1.33834e-09	1.66189e-09	0.007413	1	0
GRM8	2918	broad.mit.edu	37	7	126746607	126746607	+	Missense_Mutation	SNP	C	C	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:126746607C>G	ENST00000339582.2	-	3	1478	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	GRM8_ENST00000444921.2_Missense_Mutation_p.E224Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E224Q|GRM8_ENST00000405249.1_Missense_Mutation_p.E224Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	224					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TAGTTCCCCTCAGAAGCCAGT	0.498000										HNSCC(24;0.065)			22	29					0	0	0.002780	0	0
MFN2	9927	broad.mit.edu	37	1	12058906	12058906	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:12058906G>A	ENST00000235329.5	+	7	1001	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	MFN2_ENST00000444836.1_Missense_Mutation_p.A227T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	227					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGTGCTGGTGGCCAACTCAGA	0.562000													72	80					0	0	0.003610	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711687	155711687	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:155711687C>T	ENST00000295101.2	+	3	1845	c.1368C>T	c.(1366-1368)acC>acT	p.T456T		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	456					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CTAAAACCACCAAGATGTTAT	0.468000													30	37					0	0	0.008361	0	0
VN1R4	317703	broad.mit.edu	37	19	53770108	53770108	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:53770108C>A	ENST00000311170.4	-	1	864	c.811G>T	c.(811-813)Gcc>Tcc	p.A271S		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	271					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTCATTAAGGCTGAAGTGTTC	0.438000										HNSCC(26;0.072)			23	40					3.83957e-06	4.42726e-06	0.002780	1	0
KCNC2	3747	broad.mit.edu	37	12	75601467	75601467	+	Silent	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr12:75601467G>C	ENST00000549446.1	-	2	977	c.297C>G	c.(295-297)ggC>ggG	p.G99G	KCNC2_ENST00000298972.1_Silent_p.G99G|KCNC2_ENST00000550433.1_Silent_p.G99G|KCNC2_ENST00000393288.2_Silent_p.G99G|KCNC2_ENST00000341669.3_Silent_p.G99G|KCNC2_ENST00000548513.1_Silent_p.G99G|KCNC2_ENST00000540018.1_Silent_p.G99G|KCNC2_ENST00000350228.2_Silent_p.G99G	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	99	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGAACTCGCGGCCGCCACCGG	0.731000													4	6					0	0	0.001168	0	0
F11R	50848	broad.mit.edu	37	1	160969998	160969998	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:160969998G>A	ENST00000368026.6	-	5	803	c.529C>T	c.(529-531)Ccc>Tcc	p.P177S	F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.P128S	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	177	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			GTGCTTTTGGGATTCGTAGGC	0.517000													38	84					0	0	0.004289	0	0
FNBP1L	54874	broad.mit.edu	37	1	94014886	94014886	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:94014886C>T	ENST00000260506.8	+	13	1531	c.1380C>T	c.(1378-1380)ccC>ccT	p.P460P	FNBP1L_ENST00000370253.2_Silent_p.P460P|FNBP1L_ENST00000604705.1_Silent_p.P518P|FNBP1L_ENST00000370256.4_Silent_p.P513P|FNBP1L_ENST00000271234.7_Silent_p.P518P	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	518	Interaction with CDC42.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		GTGGGCCACCCCAGCAGCATG	0.418000													14	30					0	0	0.006122	0	0
CTR9	9646	broad.mit.edu	37	11	10778300	10778300	+	Missense_Mutation	SNP	A	A	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr11:10778300A>C	ENST00000361367.2	+	5	933	c.507A>C	c.(505-507)aaA>aaC	p.K169N		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	169					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTACAGGTAAAGCTTGCATTT	0.333000													18	49					0	0	0.007413	0	0
TTK	7272	broad.mit.edu	37	6	80715587	80715587	+	Silent	SNP	A	A	G			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr6:80715587A>G	ENST00000509894.1	+	2	856	c.27A>G	c.(25-27)agA>agG	p.R9R	TTK_ENST00000369798.2_Silent_p.R9R|TTK_ENST00000230510.3_Silent_p.R9R			P33981	TTK_HUMAN	TTK protein kinase	9					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGTGGCAGAGAATTGACAA	0.299000													15	14					0	0	0.003163	0	0
ZNF560	147741	broad.mit.edu	37	19	9582050	9582050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:9582050C>T	ENST00000301480.4	-	6	456	c.243G>A	c.(241-243)tgG>tgA	p.W81*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	81	KRAB 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTATTGCCCAGTCTGAAA	0.289000													28	17					0	0	0.005443	0	0
MIR520H	574493	broad.mit.edu	37	19	54245780	54245780	+	RNA	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:54245780C>A	ENST00000385126.1	+	0	15					NR_030215.1																						ATGCTGTGACCCTCTAGAGGA	0.403000													35	71					3.61848e-18	5.31023e-18	0.007835	1	0
PCDHGA6	56109	broad.mit.edu	37	5	140755487	140755487	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:140755487G>T	ENST00000517434.1	+	1	1837	c.1837G>T	c.(1837-1839)Gag>Tag	p.E613*	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGGCCAGCGAGCCAGGACT	0.687000													28	34					8.58068e-18	1.25112e-17	0.007291	1	0
SLC12A1	6557	broad.mit.edu	37	15	48551450	48551450	+	Missense_Mutation	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr15:48551450A>T	ENST00000396577.3	+	17	2311	c.2096A>T	c.(2095-2097)gAc>gTc	p.D699V	SLC12A1_ENST00000558405.1_Missense_Mutation_p.D699V|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D699V	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	699					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GCTCTCCTGGACATAACTCAC	0.502000													34	89					0	0	0.004878	0	0
OR2M5	127059	broad.mit.edu	37	1	248308515	248308515	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:248308515C>A	ENST00000366476.1	+	1	66	c.66C>A	c.(64-66)ccC>ccA	p.P22P		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATCACAGCCCCACCCACACCT	0.478000													227	141					3.87791e-117	6.90085e-117	0.003610	1	0
BOD1	91272	broad.mit.edu	37	5	173036425	173036425	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:173036425C>A	ENST00000311086.4	-	3	598	c.375G>T	c.(373-375)ttG>ttT	p.L125F	BOD1_ENST00000480951.1_Intron|BOD1_ENST00000285908.5_Intron	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1	125					cell division|mitosis	condensed chromosome kinetochore|microtubule organizing center				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						CTCCAGCTTCCAACATCCCTG	0.448000													23	102					1.96895e-08	2.37958e-08	0.002780	1	0
SPTBN4	57731	broad.mit.edu	37	19	41019317	41019317	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:41019317G>T	ENST00000352632.3	+	14	2707	c.2621G>T	c.(2620-2622)cGc>cTc	p.R874L	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R874L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R874L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R874L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R874L			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	874					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.R874H(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCTGAGGCGCCAGTGGCTG	0.667000													6	5					0.00198382	0.00219776	0.001984	1	0
TGFBRAP1	9392	broad.mit.edu	37	2	105897176	105897176	+	Missense_Mutation	SNP	C	C	A	rs56016004	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:105897176C>A	ENST00000393359.2	-	6	1552	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G376C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	376					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCAAGCTGGCCGCTTCTGCAA	0.542000													8	14					5.18039e-06	5.88326e-06	0.003080	1	0
CXCL1	2919	broad.mit.edu	37	4	74735447	74735447	+	Silent	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr4:74735447C>T	ENST00000395761.3	+	2	229	c.162C>T	c.(160-162)ccC>ccT	p.P54P	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	54					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAATTCACCCCAAGAACATCC	0.627000													31	61					0	0	0.008361	0	0
PKLR	5313	broad.mit.edu	37	1	155271116	155271116	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr1:155271116G>T	ENST00000342741.4	-	1	109	c.71C>A	c.(70-72)gCa>gAa	p.A24E		NM_000298.5	NP_000289.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	24					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GATGGACTTTGCTAAGTCTCT	0.537000													67	36					6.20995e-33	1.03195e-32	0.003610	1	0
GIMAP4	55303	broad.mit.edu	37	7	150269373	150269373	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:150269373G>T	ENST00000255945.2	+	3	390	c.215G>T	c.(214-216)cGc>cTc	p.R72L	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86L	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	72							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGTGAGAAACGCAGCAGCTCA	0.483000													14	32					6.72482e-11	8.73454e-11	0.003163	1	0
FANCA	2175	broad.mit.edu	37	16	89858414	89858414	+	Missense_Mutation	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr16:89858414C>A	ENST00000389301.3	-	13	1176	c.1146G>T	c.(1144-1146)caG>caT	p.Q382H	FANCA_ENST00000568369.1_Missense_Mutation_p.Q382H	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	382					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGTGAACCTCCTGCGTTTCCA	0.517000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				22	36					2.70639e-06	3.13664e-06	0.002299	1	0
MYH4	4622	broad.mit.edu	37	17	10363356	10363356	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr17:10363356G>A	ENST00000255381.2	-	14	1439	c.1329C>T	c.(1327-1329)gtC>gtT	p.V443V	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	443	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			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						TGATGCGGGTGACCATCCACA	0.473000													77	162					0	0	0.003610	0	0
CKB	1152	broad.mit.edu	37	14	103988639	103988639	+	Splice_Site	SNP	C	C	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:103988639C>T	ENST00000348956.2	-	2	549	c.193_splice	c.e2+1	p.P64_splice		NM_001823.4	NP_001814.2	P12277	KCRB_HUMAN	creatine kinase, brain	64	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GTCGCGTACCCGGGTTGTCCA	0.741000													5	13					0	0	0.000602	0	0
EHBP1	23301	broad.mit.edu	37	2	63101479	63101479	+	Splice_Site	SNP	A	A	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:63101479A>T	ENST00000263991.5	+	11	1585		c.e11-1		EHBP1_ENST00000405015.3_Splice_Site|EHBP1_ENST00000354487.3_Splice_Site|EHBP1_ENST00000405289.1_Splice_Site|EHBP1_ENST00000431489.1_Splice_Site	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1							cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TCTTTCACTTAGATCAAATCC	0.289000													23	33					0	0	0.002780	0	0
PCSK5	5125	broad.mit.edu	37	9	78965780	78965780	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:78965780G>T	ENST00000545128.1	+	35	5460	c.4922G>T	c.(4921-4923)aGt>aTt	p.S1641I		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	806					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGTGTGTGGAGTTACCACCTC	0.483000													25	78					5.24475e-26	8.46653e-26	0.004656	1	0
MDGA2	161357	broad.mit.edu	37	14	47566205	47566205	+	Silent	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:47566205G>A	ENST00000426342.1	-	6	899	c.153C>T	c.(151-153)tcC>tcT	p.S51S	MDGA2_ENST00000399232.2_Silent_p.S349S|MDGA2_ENST00000439988.2_Silent_p.S280S|MDGA2_ENST00000357362.3_Silent_p.S51S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	280	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GAGTCCCAAAGGACCTGACCC	0.468000													30	58					0	0	0.009535	0	0
FLNB	2317	broad.mit.edu	37	3	58140628	58140628	+	Missense_Mutation	SNP	G	G	T	rs144963323		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:58140628G>T	ENST00000295956.4	+	40	6910	c.6745G>T	c.(6745-6747)Ggt>Tgt	p.G2249C	FLNB_ENST00000419752.2_Missense_Mutation_p.G2069C|FLNB_ENST00000493452.1_Missense_Mutation_p.G2056C|FLNB_ENST00000490882.1_Missense_Mutation_p.G2280C|FLNB_ENST00000358537.3_Missense_Mutation_p.G2225C|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2208C|FLNB_ENST00000429972.2_Missense_Mutation_p.G2238C	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2249	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGGTCGTGCGGTGTATCTTA	0.488000													22	34					5.35356e-11	6.99367e-11	0.002780	1	0
SEMG1	6406	broad.mit.edu	37	20	43837137	43837137	+	Missense_Mutation	SNP	G	G	C	rs147894843		TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr20:43837137G>C	ENST00000372781.3	+	2	1256	c.1199G>C	c.(1198-1200)gGt>gCt	p.G400A	SEMG1_ENST00000244069.6_Missense_Mutation_p.G340A	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CCATGGCATGGTGAAAATGCA	0.438000													35	34					0	0	0.002445	0	0
SOX30	11063	broad.mit.edu	37	5	157078524	157078524	+	Missense_Mutation	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr5:157078524G>T	ENST00000265007.6	-	1	904	c.563C>A	c.(562-564)gCg>gAg	p.A188E	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.A188E	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	188					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTCCTCCGCCTCCAGCTT	0.642000													77	50					3.76054e-38	6.48764e-38	0.003610	1	0
MKI67	4288	broad.mit.edu	37	10	129902508	129902508	+	Silent	SNP	G	G	T			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:129902508G>T	ENST00000368654.3	-	13	7971	c.7596C>A	c.(7594-7596)atC>atA	p.I2532I	MKI67_ENST00000368653.3_Silent_p.I2172I	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2532	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTGGGTCCAGGATCTGCTTTG	0.512000													74	107					2.08929e-35	3.55021e-35	0.003610	1	0
KHSRP	8570	broad.mit.edu	37	19	6420440	6420440	+	Silent	SNP	C	C	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:6420440C>A	ENST00000398148.3	-	5	560	c.468G>T	c.(466-468)gtG>gtT	p.V156V		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	156	Gly-rich.|KH 1.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CACTCAGGCCCACCATGCCGT	0.592000													12	10					1.5842e-08	1.92489e-08	0.001855	1	0
FAM86DP	692099	broad.mit.edu	37	3	75475685	75475685	+	RNA	SNP	A	A	G	rs11128433	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:75475685A>G	ENST00000459803.1	-	0	844					NR_024241.1																						TGGTGCTCCCAGCAGGCAGCC	0.602000													3	48					0	0	0.000602	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217516	150217516	+	Missense_Mutation	SNP	G	G	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr7:150217516G>A	ENST00000313543.4	+	2	611	c.454G>A	c.(454-456)Ggc>Agc	p.G152S		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	152							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCGGATGTGGGCCTAAAAAG	0.502000													14	23					0	0	0.001855	0	0
FLRT2	23768	broad.mit.edu	37	14	86088584	86088584	+	Silent	SNP	G	G	C			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr14:86088584G>C	ENST00000330753.4	+	2	1493	c.726G>C	c.(724-726)ctG>ctC	p.L242L	FLRT2_ENST00000554746.1_Silent_p.L242L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	242					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GTAATTCGCTGTCCCACCCTC	0.502000													47	61					0	0	0.002522	0	0
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796	by1000genomes	TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1																						CAGCAGCAGCCAGCTGAGCACC	0.718													4	3	---	---	---	---					
REG3G	130120	broad.mit.edu	37	2	79255038	79255038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:79255038delG	ENST00000272324.5	+	5	623	c.439delG	c.(439-441)ggfs	p.G147fs	REG3G_ENST00000409471.1_Frame_Shift_Del_p.G101fs|REG3G_ENST00000393897.2_Frame_Shift_Del_p.G147fs	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	147	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.G147W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCCACTGTGGGAGCCTGTC	0.488													30	74	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													6	10	---	---	---	---					
XRN1	54464	broad.mit.edu	37	3	142123826	142123826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr3:142123826delC	ENST00000264951.4	-	16	1923	c.1806delG	c.(1804-1806)tgfs	p.W602fs	XRN1_ENST00000392981.2_Frame_Shift_Del_p.W602fs	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	602					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTCTATCATACCAGCACATTA	0.403													38	19	---	---	---	---					
KIAA1045	23349	broad.mit.edu	37	9	34972519	34972519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:34972519delC	ENST00000242315.3	+	3	637	c.555delC	c.(553-555)tgfs	p.C185fs	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Frame_Shift_Del_p.C185fs	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	185							calcium ion binding			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)			GCTGGAGCTGCCACTACTGTG	0.557													23	18	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													2	4	---	---	---	---					
SLIT1	6585	broad.mit.edu	37	10	98799774	98799774	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr10:98799774delG	ENST00000266058.4	-	21	2513	c.2268delC	c.(2266-2268)ccfs	p.P756fs	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.P756fs	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	756	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GAATGCCCTTGGGCAGGGCCC	0.652													17	41	---	---	---	---					
ZNF592	9640	broad.mit.edu	37	15	85341834	85341834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr15:85341834delC	ENST00000299927.3	+	5	2774	c.2752delC	c.(2752-2754)ccfs	p.P918fs	ZNF592_ENST00000560079.2_Frame_Shift_Del_p.P918fs			Q92610	ZN592_HUMAN	zinc finger protein 592	918					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACGGTGTTCCCCGAAATGT	0.607													23	42	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70975590	70975590	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr16:70975590delG	ENST00000393567.2	-	43	6952	c.6802delC	c.(6802-6804)agfs	p.Q2268fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2268										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGTAATCCTGGGCCATGTTG	0.527													15	196	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44172067	44172067	+	Splice_Site	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr17:44172067delC	ENST00000262419.6	-	3	1760	c.1289_splice	c.e3-1	p.L430_splice	KANSL1_ENST00000432791.1_Splice_Site_p.L430_splice|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Splice_Site_p.L430_splice|KANSL1_ENST00000574590.1_Splice_Site_p.L430_splice|KANSL1_ENST00000572904.1_Splice_Site_p.L430_splice	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	430						MLL1 complex	protein binding										ACCTGCGTCTCCTAAAAGGAA	0.463													42	112	---	---	---	---					
ZNF331	55422	broad.mit.edu	37	19	54080642	54080653	+	In_Frame_Del	DEL	TGGGAAGGCTTT	TGGGAAGGCTTT	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-10A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	4929c3d1-f4da-4766-9d13-85b5c7babf4c	g.chr19:54080642_54080653delTGGGAAGGCTTT	ENST00000253144.9	+	7	2161_2172	c.828_839delTGGGAAGGCTTT	c.(826-840)tgt>tg	p.CGKAF276del	ZNF331_ENST00000411977.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513999.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000449416.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511593.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511154.1_In_Frame_Del_p.CGKAF276del	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GTAAAGACTGTGGGAAGGCTTTTATTTGTGGT	0.420			T	?	follicular thyroid adenoma								18	48	---	---	---	---					
REG3G	130120	broad.mit.edu	37	2	79255038	79255038	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr2:79255038delG	ENST00000272324.5	+	5	623	c.439delG	c.(439-441)ggfs	p.G147fs	REG3G_ENST00000409471.1_Frame_Shift_Del_p.G101fs|REG3G_ENST00000393897.2_Frame_Shift_Del_p.G147fs	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	147	C-type lectin.				acute-phase response	extracellular region	sugar binding	p.G147W(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGCCACTGTGGGAGCCTGTC	0.488													30	74	---	---	---	---					
XRN1	54464	broad.mit.edu	37	3	142123826	142123826	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr3:142123826delC	ENST00000264951.4	-	16	1923	c.1806delG	c.(1804-1806)tgfs	p.W602fs	XRN1_ENST00000392981.2_Frame_Shift_Del_p.W602fs	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	602					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CTCTATCATACCAGCACATTA	0.403													38	19	---	---	---	---					
KIAA1045	23349	broad.mit.edu	37	9	34972519	34972519	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:34972519delC	ENST00000242315.3	+	3	637	c.555delC	c.(553-555)tgfs	p.C185fs	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Frame_Shift_Del_p.C185fs	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	185							calcium ion binding			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)			GCTGGAGCTGCCACTACTGTG	0.557													23	18	---	---	---	---					
CIZ1	25792	broad.mit.edu	37	9	130953109	130953111	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr9:130953109_130953111delGCT	ENST00000538431.1	-	2	273_275	c.26_28delAGC	c.(25-30)ctc>c	p.QL9del	CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	9	Gln-rich.			Missing (in Ref. 7; AAF23231).		nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						tgttgctggagctgctgctgctg	0.611													2	4	---	---	---	---					
SLIT1	6585	broad.mit.edu	37	10	98799774	98799774	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr10:98799774delG	ENST00000266058.4	-	21	2513	c.2268delC	c.(2266-2268)ccfs	p.P756fs	SLIT1_ENST00000371070.4_Frame_Shift_Del_p.P756fs|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	756	LRRNT 4.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GAATGCCCTTGGGCAGGGCCC	0.652													17	41	---	---	---	---					
ZNF592	9640	broad.mit.edu	37	15	85341834	85341834	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr15:85341834delC	ENST00000299927.3	+	5	2774	c.2752delC	c.(2752-2754)ccfs	p.P918fs	ZNF592_ENST00000560079.2_Frame_Shift_Del_p.P918fs			Q92610	ZN592_HUMAN	zinc finger protein 592	918					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACGGTGTTCCCCGAAATGT	0.607													23	42	---	---	---	---					
HAGHL	84264	broad.mit.edu	37	16	778955	778955	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr16:778955delG	ENST00000341413.4	+	7	941	c.660delG	c.(658-660)gtfs	p.V220fs	HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	220							hydrolase activity|metal ion binding			lung(3)	3		Hepatocellular(780;0.00335)				GCTTCGGGGTGGGGGGGGCTC	0.667													2	4	---	---	---	---					
HYDIN	54768	broad.mit.edu	37	16	70975590	70975590	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr16:70975590delG	ENST00000393567.2	-	43	6952	c.6802delC	c.(6802-6804)agfs	p.Q2268fs		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2268										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGTAATCCTGGGCCATGTTG	0.527													15	196	---	---	---	---					
KANSL1	284058	broad.mit.edu	37	17	44172067	44172067	+	Splice_Site	DEL	C	C	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr17:44172067delC	ENST00000262419.6	-	3	1760	c.1289_splice	c.e3-1	p.L430_splice	KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Splice_Site_p.L430_splice|KANSL1_ENST00000574590.1_Splice_Site_p.L430_splice|KANSL1_ENST00000572904.1_Splice_Site_p.L430_splice|KANSL1_ENST00000432791.1_Splice_Site_p.L430_splice	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	430						MLL1 complex	protein binding										ACCTGCGTCTCCTAAAAGGAA	0.463													42	112	---	---	---	---					
ZNF331	55422	broad.mit.edu	37	19	54080642	54080653	+	In_Frame_Del	DEL	TGGGAAGGCTTT	TGGGAAGGCTTT	-			TCGA-86-7713-01A-11D-2063-08	TCGA-86-7713-11A-01D-2063-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1416b4c9-f535-4611-b4b9-85fbd0f7b0a4	6f92349d-fec0-4580-867c-f3529059176a	g.chr19:54080642_54080653delTGGGAAGGCTTT	ENST00000253144.9	+	7	2161_2172	c.828_839delTGGGAAGGCTTT	c.(826-840)tgt>tg	p.CGKAF276del	ZNF331_ENST00000449416.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000411977.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513999.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511593.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511154.1_In_Frame_Del_p.CGKAF276del	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GTAAAGACTGTGGGAAGGCTTTTATTTGTGGT	0.420			T	?	follicular thyroid adenoma								18	48	---	---	---	---					
