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
USP8	9101	broad.mit.edu	37	15	50776527	50776527	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:50776527G>A	ENST00000433963.1	+	13	2359	c.1859G>A	c.(1858-1860)aGa>aAa	p.R620K	USP8_ENST00000307179.4_Missense_Mutation_p.R620K|USP8_ENST00000396444.3_Missense_Mutation_p.R620K|USP8_ENST00000425032.3_Intron			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	620					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R620K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAACTTTTAGAGAGGATACA	0.299000													9	49					0	0	0.010729	0	0
ARID4B	51742	broad.mit.edu	37	1	235338568	235338568	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:235338568C>T	ENST00000264183.3	-	22	4092	c.3595G>A	c.(3595-3597)Gat>Aat	p.D1199N	ARID4B_ENST00000349213.3_Missense_Mutation_p.D1113N|ARID4B_ENST00000366603.2_Missense_Mutation_p.D1199N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GGATCCTTATCACCATTCTTT	0.408000													27	64					0	0	0.005443	0	0
SLC38A10	124565	broad.mit.edu	37	17	79257211	79257211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79257211G>A	ENST00000374759.3	-	4	738	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	SLC38A10_ENST00000288439.5_Nonsense_Mutation_p.Q119*	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATCCTTACCTGAAACCCGAAC	0.602000													9	12					0	0	0.008291	0	0
SERINC3	10955	broad.mit.edu	37	20	43132519	43132519	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:43132519G>A	ENST00000342374.4	-	8	1149	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERINC3_ENST00000541235.1_Missense_Mutation_p.S276F|SERINC3_ENST00000255175.1_Missense_Mutation_p.S331F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	331						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATCCAGTAAAGACCCACTCTT	0.413000													23	40					0	0	0.014323	0	0
APEX2	27301	broad.mit.edu	37	X	55028739	55028739	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:55028739G>A	ENST00000374987.3	+	3	363	c.297G>A	c.(295-297)ctG>ctA	p.L99L	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	99					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGAAGGCCTGAGTGGCCTGT	0.552000								Other BER factors					46	20					0	0	0.014410	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													23	41					0	0	0.008361	0	0
C18orf8	29919	broad.mit.edu	37	18	21084405	21084405	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:21084405C>G	ENST00000269221.3	+	2	283	c.173C>G	c.(172-174)tCa>tGa	p.S58*	C18orf8_ENST00000590868.1_Nonsense_Mutation_p.S58*	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	58										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AATCCCATCTCATTTAGGTAA	0.378000													29	83					0	0	0.013726	0	0
CDH22	64405	broad.mit.edu	37	20	44803691	44803691	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:44803691G>A	ENST00000372262.3	-	11	2341	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	CDH22_ENST00000537909.1_Silent_p.L647L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	647					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGTGGCGCCTGAGGGTGAGGA	0.627000													23	25					0	0	0.004656	0	0
ZNF606	80095	broad.mit.edu	37	19	58489802	58489802	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:58489802G>A	ENST00000341164.4	-	7	2866	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	ZNF606_ENST00000536132.1_Missense_Mutation_p.S659F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATAAGGGAAGAATTCTTACA	0.373000													73	32					0	0	0.014410	0	0
SNX11	29916	broad.mit.edu	37	17	46189426	46189426	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:46189426G>A	ENST00000393405.2	+	3	375	c.21G>A	c.(19-21)atG>atA	p.M7I	SNX11_ENST00000582104.1_5'UTR|SNX11_ENST00000452859.2_Intron|SNX11_ENST00000580219.1_5'UTR|SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000359238.2_Missense_Mutation_p.M7I|SNX11_ENST00000439357.2_5'UTR	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	7					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGTGTAGGATGTCGGAGAACC	0.458000													12	51					0	0	0.013537	0	0
CNTN3	5067	broad.mit.edu	37	3	74350587	74350587	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:74350587G>T	ENST00000263665.6	-	15	2084	c.2057C>A	c.(2056-2058)cCa>cAa	p.P686Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	686	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTAAACTTGGTTCTCCACC	0.408000													17	75					1.33834e-09	1.42558e-09	0.007413	1	0
CAD	790	broad.mit.edu	37	2	27440858	27440858	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27440858G>A	ENST00000264705.4	+	2	358	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CAD_ENST00000403525.1_Missense_Mutation_p.E66K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	66	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCCCCAGATGAAATGGATGA	0.502000													17	59					0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79430001	79430001	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:79430001C>T	ENST00000264895.6	+	63	10061	c.9621C>T	c.(9619-9621)ccC>ccT	p.P3207P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3202					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCATTTCCCCAGATACGCTG	0.572000													4	13					0	0	0.009096	0	0
PRPF4	9128	broad.mit.edu	37	9	116050456	116050456	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:116050456G>A	ENST00000374199.4	+	10	1335	c.934G>A	c.(934-936)Gat>Aat	p.D312N	PRPF4_ENST00000374198.4_Splice_Site_p.D313N			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	313						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CCTTTCCAGTGATGAACCAGT	0.458000													13	18					0	0	0.003163	0	0
ULK4	54986	broad.mit.edu	37	3	41831325	41831325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:41831325C>T	ENST00000301831.4	-	21	2483	c.2021G>A	c.(2020-2022)aGa>aAa	p.R674K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	674							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCGAGTGATTCTACACAAGGC	0.463000													20	43					0	0	0.014323	0	0
GLIS3	169792	broad.mit.edu	37	9	3828335	3828335	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:3828335G>A	ENST00000324333.10	-	10	2458	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Silent_p.F910F	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	755					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGATCTGCAAGAAGGTAGCAT	0.542000													10	10					0	0	0.006214	0	0
TNMD	64102	broad.mit.edu	37	X	99854576	99854576	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:99854576C>T	ENST00000373031.4	+	7	1033	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	272						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GCCGTCGAGGCAACCGCTATT	0.478000													5	16					0	0	0.001984	0	0
NPTXR	23467	broad.mit.edu	37	22	39239400	39239400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:39239400G>A	ENST00000333039.2	-	1	587	c.464C>T	c.(463-465)aCc>aTc	p.T155I		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	155						integral to membrane	metal ion binding			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					CAGCTTGCCGGTGAGCTCACG	0.766000													3	10					0	0	0.004672	0	0
OTX1	5013	broad.mit.edu	37	2	63283050	63283050	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:63283050C>A	ENST00000282549.2	+	5	940	c.664C>A	c.(664-666)Ccc>Acc	p.P222T	OTX1_ENST00000366671.3_Missense_Mutation_p.P222T	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	222						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCCTCTTATCCCATGTCCTA	0.662000													20	36					2.94398e-08	3.10913e-08	0.007413	1	0
FCRLB	127943	broad.mit.edu	37	1	161696644	161696644	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:161696644G>A	ENST00000336830.5	+	5	636	c.622G>A	c.(622-624)Ggt>Agt	p.G208S	FCRLB_ENST00000367945.1_Missense_Mutation_p.R187Q|FCRLB_ENST00000495397.1_3'UTR|FCRLB_ENST00000367946.3_Missense_Mutation_p.R194Q|FCRLB_ENST00000392158.1_Silent_p.A242A|FCRLB_ENST00000367944.3_Missense_Mutation_p.G201S|FCRLB_ENST00000367948.2_Silent_p.A242A			Q6BAA4	FCRLB_HUMAN	Fc receptor-like B	209						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			ACAGCCGCGCGGTGCGCCGCT	0.706000													4	5					0	0	0.000602	0	0
WDR77	79084	broad.mit.edu	37	1	111989760	111989760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:111989760C>T	ENST00000235090.5	-	4	656	c.450G>A	c.(448-450)aaG>aaA	p.K150K	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	150					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTCCCAAACCTTGATGCTAA	0.398000													39	43					0	0	0.008740	0	0
IL1A	3552	broad.mit.edu	37	2	113532667	113532667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:113532667G>A	ENST00000263339.3	-	7	948	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	265					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TCCAGTATCTGAAAGTCAGTG	0.458000													18	42					0	0	0.007413	0	0
HOXC9	3225	broad.mit.edu	37	12	54394372	54394372	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54394372G>A	ENST00000303450.4	+	1	470	c.400G>A	c.(400-402)Gag>Aag	p.E134K	RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Missense_Mutation_p.E134K	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	134					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CGGCCCAGGGGAGGGCCGCAG	0.781000													4	2					0	0	0.000602	0	0
PUS1	80324	broad.mit.edu	37	12	132416681	132416681	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:132416681C>G	ENST00000542167.2	+	2	859	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V	PUS1_ENST00000440818.2_Intron|PUS1_ENST00000443358.2_Intron|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	0						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		cgacctctgtctgcaaaatat	0.502000													2	10					0	0	0.004672	0	0
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:1505571G>T	ENST00000381401.5	-	4	1535	c.821C>A	c.(820-822)gCg>gAg	p.A274E		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	274					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GTTGGACCACGCACCCTTGAA	0.607000													154	78					1.19662e-71	1.30678e-71	0.014410	1	0
STRN3	29966	broad.mit.edu	37	14	31416386	31416386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:31416386G>A	ENST00000355683.5	-	5	841	c.626C>T	c.(625-627)tCa>tTa	p.S209L	STRN3_ENST00000357479.5_Missense_Mutation_p.S209L	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	209					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTGGTTCTGAATTAGATAG	0.348000													25	62					0	0	0.005443	0	0
NRL	4901	broad.mit.edu	37	14	24551781	24551781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24551781C>T	ENST00000561028.1	-	2	596	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	NRL_ENST00000397002.2_Missense_Mutation_p.E93K|NRL_ENST00000396997.1_Missense_Mutation_p.E93K			P54845	NRL_HUMAN	neural retina leucine zipper	93					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		ATGGCCTCTTCAGGACTCAGC	0.682000													12	37					0	0	0.010729	0	0
LINC00933	100506874	broad.mit.edu	37	15	85121308	85121308	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:85121308C>T	ENST00000557887.1	+	0	508					NR_038273.1|NR_038274.1																						GTCAACGTATCCACAGAAAGC	0.468000													10	32					0	0	0.006214	0	0
QRICH2	84074	broad.mit.edu	37	17	74288992	74288992	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:74288992C>A	ENST00000262765.5	-	4	1497	c.1318G>T	c.(1318-1320)Gat>Tat	p.D440Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	440	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ccagactgatccattccaggc	0.567000													9	20					0.000442599	0.000459031	0.006214	1	0
KDM4A	9682	broad.mit.edu	37	1	44169946	44169946	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:44169946G>A	ENST00000372396.3	+	22	3234	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K	KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1034					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CACAGAGAAAGAGGTTAAGCA	0.443000													48	93					0	0	0.014410	0	0
OR4C15	81309	broad.mit.edu	37	11	55322644	55322644	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:55322644A>G	ENST00000314644.2	+	1	862	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGGGCGCTGGAAAGCTCTCTC	0.443000										HNSCC(20;0.049)			25	104					0	0	0.007291	0	0
TIGD2	166815	broad.mit.edu	37	4	90034836	90034836	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:90034836C>T	ENST00000317005.2	+	1	869	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	237	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CCCGAGCATTCAAAGGCACTG	0.418000													10	32					0	0	0.006214	0	0
MIPEPP3	650794	broad.mit.edu	37	13	21875617	21875617	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:21875617G>A	ENST00000424756.1	+	0	118																											TATGAAATATGAAGGATTTCA	0.463000													7	18					0	0	0.001984	0	0
DHRS11	79154	broad.mit.edu	37	17	34956152	34956152	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:34956152A>G	ENST00000251312.5	+	5	847	c.635A>G	c.(634-636)aAg>aGg	p.K212R	DHRS11_ENST00000590554.1_Missense_Mutation_p.K133R	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	212						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CTCCACGACAAGGACCCTGAG	0.572000													22	41					0	0	0.002780	0	0
NFS1	9054	broad.mit.edu	37	20	34286483	34286483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:34286483G>A	ENST00000374092.4	-	2	197	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	NFS1_ENST00000397425.1_5'UTR|NFS1_ENST00000374085.1_5'UTR|NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000306750.3_Missense_Mutation_p.P43S|NFS1_ENST00000541387.1_Missense_Mutation_p.P43S	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	43					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTATCTGCGGGAACCGCAGAC	0.542000													15	54					0	0	0.004990	0	0
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141																											TGAGGCTGCCGTTGTAGAAGG	0.612000													3	11					0	0	0.009096	0	0
AASS	10157	broad.mit.edu	37	7	121738842	121738842	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:121738842T>C	ENST00000393376.1	-	13	1580	c.1485A>G	c.(1483-1485)gtA>gtG	p.V495V	AASS_ENST00000417368.2_Silent_p.V495V|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	495	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AATATTCTAATACAGGCTCAG	0.328000													12	61					0	0	0.013537	0	0
NR5A2	2494	broad.mit.edu	37	1	200014630	200014630	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:200014630C>T	ENST00000367362.3	+	4	627	c.381C>T	c.(379-381)aaC>aaT	p.N127N	NR5A2_ENST00000544748.1_Silent_p.N55N|NR5A2_ENST00000236914.3_Silent_p.N81N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	127					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAAACCAGAACTGCCAAATTG	0.328000													14	29					0	0	0.001855	0	0
TRPA1	8989	broad.mit.edu	37	8	72977734	72977734	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:72977734A>T	ENST00000262209.4	-	4	711	c.504T>A	c.(502-504)gcT>gcA	p.A168A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	168						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATGATCACAGCTGTGTTTC	0.333000													5	32					0	0	0.000602	0	0
SEMA3D	223117	broad.mit.edu	37	7	84649547	84649547	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:84649547A>G	ENST00000284136.6	-	12	1547		c.e12+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACTGAGTCTTACCTTGAATAT	0.413000													6	28					0	0	0.001168	0	0
SZT2	23334	broad.mit.edu	37	1	43909302	43909302	+	Missense_Mutation	SNP	G	G	A	rs141085666		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:43909302G>A	ENST00000562955.1	+	61	8489	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R1988Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2887						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTGGGAGCCGAGAGGCCCCC	0.602000													19	68					0	0	0.008871	0	0
GSDMD	79792	broad.mit.edu	37	8	144641548	144641548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:144641548G>A	ENST00000526406.1	+	5	926	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GSDMD_ENST00000533063.1_Missense_Mutation_p.E63K|GSDMD_ENST00000262580.4_Missense_Mutation_p.E15K	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	15								p.E15K(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTGGTCCAGGAGCTGGACCA	0.632000													22	36					0	0	0.012319	0	0
FOXO1	2308	broad.mit.edu	37	13	41134387	41134387	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:41134387A>G	ENST00000379561.5	-	2	1625	c.1241T>C	c.(1240-1242)tTg>tCg	p.L414S		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	414					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGGTGAATTCAAACTGGTGTT	0.488000													22	93					0	0	0.005443	0	0
NRXN1	9378	broad.mit.edu	37	2	50850596	50850596	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:50850596A>G	ENST00000404971.1	-	7	2428	c.1089T>C	c.(1087-1089)taT>taC	p.Y363Y	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406316.2_Silent_p.Y330Y|NRXN1_ENST00000402717.3_Silent_p.Y330Y|NRXN1_ENST00000406859.3_Silent_p.Y330Y|NRXN1_ENST00000405472.3_Silent_p.Y330Y|NRXN1_ENST00000401669.2_Silent_p.Y330Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	330	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAAGATTGACATAATCAGCCG	0.433000													59	100					0	0	0.014410	0	0
DAGLA	747	broad.mit.edu	37	11	61511362	61511362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61511362G>A	ENST00000257215.5	+	20	2646	c.2530G>A	c.(2530-2532)Gac>Aac	p.D844N		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	844					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCTGGCGGCCGACAGCCTGTC	0.667000													105	166					0	0	0.014410	0	0
FUT11	170384	broad.mit.edu	37	10	75533107	75533107	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:75533107A>T	ENST00000372841.3	+	2	911	c.868A>T	c.(868-870)Aca>Tca	p.T290S	FUT11_ENST00000465695.1_3'UTR|FUT11_ENST00000394790.1_Missense_Mutation_p.T290S	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	290					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGACTACATGACAGAAAAACT	0.567000													25	48					0	0	0.004656	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794272	111794272	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:111794272T>C	ENST00000452346.2	+	15	1891	c.1888T>C	c.(1888-1890)Tac>Cac	p.Y630H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Y504H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	630	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGATCTGCCTACTGTGGTGC	0.582000													63	489					0	0	0.014410	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:111785291C>T	ENST00000452346.2	+	13	1611	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	TMPRSS7_ENST00000419127.1_Silent_p.L410L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGCCCTCTCATCTGTGATG	0.507000													32	232					0	0	0.006230	0	0
STK36	27148	broad.mit.edu	37	2	219537634	219537634	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:219537634C>G	ENST00000295709.3	+	2	361	c.82C>G	c.(82-84)Cag>Gag	p.Q28E	STK36_ENST00000440309.1_Missense_Mutation_p.Q28E|STK36_ENST00000392105.3_Missense_Mutation_p.Q28E|STK36_ENST00000392106.2_Missense_Mutation_p.Q28E	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	28	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ATACAGTGCTCAGGTGTTGCA	0.443000													37	54					0	0	0.004289	0	0
HMCN1	83872	broad.mit.edu	37	1	185704134	185704134	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185704134A>G	ENST00000271588.4	+	1	452	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	HMCN1_ENST00000367492.2_Missense_Mutation_p.K75E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	75	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACCTAAAAGACCTCT	0.368000													26	44					0	0	0.006320	0	0
GOLGA5	9950	broad.mit.edu	37	14	93299524	93299524	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:93299524C>A	ENST00000163416.2	+	10	2033	c.1777C>A	c.(1777-1779)Cag>Aag	p.Q593K	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q593K	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	593					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TCGACTCCATCAGCTAACAGA	0.413000			T	RET	papillary thyroid								22	50					3.62473e-10	3.88012e-10	0.012319	1	0
POTEG	404785	broad.mit.edu	37	14	19566047	19566047	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:19566047A>G	ENST00000409832.3	+	6	1143	c.1091A>G	c.(1090-1092)cAg>cGg	p.Q364R	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	364										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGAAAAACAGATGCTAAAA	0.313000													10	135					0	0	0.013537	0	0
ACBD3	64746	broad.mit.edu	37	1	226340098	226340098	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:226340098G>A	ENST00000366812.5	-	7	1367	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	438	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AGTGTTTGGAGAGTCTGTCCA	0.478000													67	110					0	0	0.014410	0	0
THRAP3	9967	broad.mit.edu	37	1	36752825	36752825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:36752825C>T	ENST00000354618.5	+	4	1218	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.Q332*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	332	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTCATCTCAGAAGGAGGA	0.517000			T	USP6	aneurysmal bone cysts								13	32					0	0	0.002450	0	0
YARS2	51067	broad.mit.edu	37	12	32906904	32906904	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:32906904G>A	ENST00000324868.8	-	2	922	c.895C>T	c.(895-897)Cca>Tca	p.P299S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	299					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATTCAAATGGAGATGTCTTA	0.418000													33	69					0	0	0.003755	0	0
SASH3	54440	broad.mit.edu	37	X	128922525	128922525	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:128922525T>C	ENST00000356892.3	+	3	386	c.272T>C	c.(271-273)aTg>aCg	p.M91T		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	91										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGGGCAAGATGATGGTGAAG	0.572000													11	23					0	0	0.003163	0	0
MORC4	79710	broad.mit.edu	37	X	106219839	106219839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:106219839C>T	ENST00000355610.4	-	9	1406	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	MORC4_ENST00000535534.1_Missense_Mutation_p.D126N|MORC4_ENST00000255495.7_Missense_Mutation_p.D378N	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	378							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TACTCAAAGTCTTGTTTGTTG	0.408000													13	43					0	0	0.003163	0	0
TOPBP1	11073	broad.mit.edu	37	3	133339155	133339155	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:133339155T>G	ENST00000260810.5	-	20	3346	c.3215A>C	c.(3214-3216)cAg>cCg	p.Q1072P		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1072					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TAACTGCTTCTGAAAGTTCTC	0.398000								Other conserved DNA damage response genes					32	19					0	0	0.004289	0	0
PDE3A	5139	broad.mit.edu	37	12	20799433	20799433	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:20799433G>A	ENST00000359062.3	+	11	2301	c.2261G>A	c.(2260-2262)aGa>aAa	p.R754K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	754	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GATCATAACAGAATCCATGCC	0.413000													27	35					0	0	0.008361	0	0
INO80	54617	broad.mit.edu	37	15	41337108	41337108	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41337108C>G	ENST00000361937.3	-	24	3325	c.2901G>C	c.(2899-2901)ttG>ttC	p.L967F	INO80_ENST00000401393.3_Missense_Mutation_p.L967F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	967	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTACCTTTAACAAAGGGCAGC	0.388000													7	29					0	0	0.001984	0	0
GALNT5	11227	broad.mit.edu	37	2	158165086	158165086	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:158165086A>C	ENST00000259056.4	+	9	3013	c.2528A>C	c.(2527-2529)cAa>cCa	p.Q843P		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	843	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGCTTCAACAATTTAATTAC	0.418000													117	248					0	0	0.014410	0	0
DGKH	160851	broad.mit.edu	37	13	42763216	42763216	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:42763216G>A	ENST00000261491.5	+	15	1704	c.1683G>A	c.(1681-1683)ttG>ttA	p.L561L	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Silent_p.L425L|DGKH_ENST00000540693.1_Silent_p.L561L|DGKH_ENST00000337343.4_Silent_p.L561L|DGKH_ENST00000538674.1_Silent_p.L316L|DGKH_ENST00000379274.2_Silent_p.L425L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGCAGGCTTTGCACACAGATT	0.483000													8	32					0	0	0.006214	0	0
CHST7	56548	broad.mit.edu	37	X	46434113	46434113	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:46434113C>T	ENST00000276055.3	+	1	895	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	249					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGGTGGTCATCAAGGACGTGC	0.682000													12	14					0	0	0.010729	0	0
PDE3B	5140	broad.mit.edu	37	11	14666332	14666332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:14666332C>T	ENST00000282096.4	+	1	1064	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Silent_p.L237L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	237					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCAGCCTCGGGTCGCTGC	0.692000													7	22					0	0	0.003080	0	0
KCNH8	131096	broad.mit.edu	37	3	19436626	19436626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:19436626C>T	ENST00000328405.2	+	7	1266	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	KCNH8_ENST00000537696.1_5'UTR|KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	334						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAGACAGTGCGCCTCTTGCG	0.478000													45	103					0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113638961	113638961	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:113638961T>C	ENST00000361127.5	+	8	1263	c.1065T>C	c.(1063-1065)ttT>ttC	p.F355F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATGGTGTATTTAGATTTCTTT	0.353000													32	51					0	0	0.003755	0	0
EIF3A	8661	broad.mit.edu	37	10	120802040	120802040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:120802040G>A	ENST00000369144.3	-	19	3119	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	EIF3A_ENST00000541549.1_Missense_Mutation_p.P964S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	998	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATTCGTCTGGGAGGCCTGTCA	0.572000													61	94					0	0	0.014410	0	0
KRT33B	3884	broad.mit.edu	37	17	39521742	39521742	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:39521742C>T	ENST00000251646.3	-	4	701	c.652G>A	c.(652-654)Gct>Act	p.A218T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	218	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGTCCACAGCGGGAGCAGCG	0.562000													16	34					0	0	0.004990	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102915919	102915919	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:102915919C>T	ENST00000312132.4	-	0	860																											ggactgccagcatgctgtcac	0.522000													7	7					0	0	0.001984	0	0
PSMD1	5707	broad.mit.edu	37	2	231936987	231936987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231936987C>T	ENST00000308696.6	+	7	901	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	PSMD1_ENST00000409643.1_Nonsense_Mutation_p.Q247*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.Q247*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGGCATATCAGATTTGTTT	0.403000													47	117					0	0	0.014410	0	0
C6orf47	57827	broad.mit.edu	37	6	31627076	31627076	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:31627076G>C	ENST00000375911.1	-	1	1473	c.649C>G	c.(649-651)Ctc>Gtc	p.L217V	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	217										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TGTAGCCAGAGGCCCAGCGGT	0.637000													16	18					0	0	0.004990	0	0
C2CD3	26005	broad.mit.edu	37	11	73849870	73849870	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:73849870G>A	ENST00000334126.7	-	5	1076	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	C2CD3_ENST00000539061.1_Silent_p.L284L|C2CD3_ENST00000313663.7_Silent_p.L284L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	284						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAACTGTTCAGAAGGGACATC	0.438000													7	43					0	0	0.001984	0	0
SDCBP2	27111	broad.mit.edu	37	20	1291531	1291531	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:1291531T>C	ENST00000360779.3	-	8	910	c.737A>G	c.(736-738)aAa>aGa	p.K246R	SDCBP2_ENST00000381812.1_Missense_Mutation_p.K246R|SDCBP2_ENST00000381808.3_Missense_Mutation_p.K161R|SDCBP2_ENST00000339987.3_Missense_Mutation_p.K246R|SDCBP2_ENST00000467129.1_5'UTR	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	246	PDZ 2.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						CATGATCTTTTTGTCCTAGGG	0.552000													9	20					0	0	0.004482	0	0
EXOC6	54536	broad.mit.edu	37	10	94757304	94757304	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:94757304A>G	ENST00000371552.4	+	19	2041	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	EXOC6_ENST00000371547.4_Missense_Mutation_p.D692G|EXOC6_ENST00000443748.2_Missense_Mutation_p.D573G|EXOC6_ENST00000260762.6_Missense_Mutation_p.D676G	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	676					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATGCTACTGGACAGTGAGTTA	0.378000													7	41					0	0	0.001984	0	0
FAM174B	400451	broad.mit.edu	37	15	93277246	93277246	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:93277246C>T	ENST00000556424.1	-	0	82																											CAGTGAGGTACCCCGGAATCG	0.592000													5	22					0	0	0.000602	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378784	31378784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:31378784C>A	ENST00000297142.3	-	2	421	c.99G>T	c.(97-99)aaG>aaT	p.K33N		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	33					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCTTTCTGGCTTCTTAATTT	0.448000													44	110					2.24893e-16	2.43752e-16	0.009718	1	0
FXR1	8087	broad.mit.edu	37	3	180630521	180630521	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:180630521C>T	ENST00000357559.4	+	1	432	c.48C>T	c.(46-48)taC>taT	p.Y16Y	FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000491062.1_Silent_p.Y16Y|FXR1_ENST00000491674.1_Silent_p.Y16Y|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000445140.2_Silent_p.Y16Y	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	16					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGGCTTTCTACAAGGTACTGA	0.562000											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	113					0	0	0.014410	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735421	126735421	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:126735421A>G	ENST00000251772.4	+	15	3076	c.3007A>G	c.(3007-3009)Atc>Gtc	p.I1003V	PLXNA1_ENST00000393409.2_Missense_Mutation_p.I1026V			Q9UIW2	PLXA1_HUMAN	plexin A1	1026	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGCGCTCCCATCATCATCAA	0.632000													15	216					0	0	0.006122	0	0
KLHL6	89857	broad.mit.edu	37	3	183209963	183209963	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:183209963G>A	ENST00000341319.3	-	7	1653	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	540										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGTCACCAGGCACCAGCTG	0.632000													26	33					0	0	0.003330	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569384	30569384	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:30569384C>T	ENST00000376511.2	-	20	3317	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	922					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.R922H(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTTCTCATAGCGGCAGTTGCC	0.552000													12	14					0	0	0.002450	0	0
EXOC4	60412	broad.mit.edu	37	7	133622721	133622721	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:133622721G>T	ENST00000253861.4	+	14	2134	c.2105G>T	c.(2104-2106)cGt>cTt	p.R702L	EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.R312L|EXOC4_ENST00000539845.1_Missense_Mutation_p.R601L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	702					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACATCCTTCGTGACGTCAGT	0.458000													11	78					0.000673444	0.000697611	0.008291	1	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221193	20221193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20221193G>C	ENST00000361479.5	+	3	1048	c.980G>C	c.(979-981)aGa>aCa	p.R327T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R327T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	327					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACCGATGTCAGAGGCAGGAGG	0.512000													5	38					0	0	0.001984	0	0
CRNKL1	51340	broad.mit.edu	37	20	20020280	20020280	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:20020280G>A	ENST00000377340.2	-	12	2032	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	CRNKL1_ENST00000536226.1_Silent_p.I506I|CRNKL1_ENST00000377327.4_Silent_p.I655I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	667					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGGCTGACTGATGGCTAATT	0.378000													24	67					0	0	0.002780	0	0
ULK2	9706	broad.mit.edu	37	17	19705182	19705182	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:19705182C>G	ENST00000395544.4	-	16	1848	c.1349G>C	c.(1348-1350)gGa>gCa	p.G450A	ULK2_ENST00000361658.2_Missense_Mutation_p.G450A|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	450					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGAGCATGATCCCGGCCGGAG	0.507000													73	83					0	0	0.014410	0	0
FAT1	2195	broad.mit.edu	37	4	187628629	187628629	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:187628629T>C	ENST00000441802.2	-	2	2562	c.2353A>G	c.(2353-2355)Aca>Gca	p.T785A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	785	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TATTTGTCTGTTGTTTCACGG	0.433000										HNSCC(5;0.00058)			26	85					0	0	0.004656	0	0
CAPG	822	broad.mit.edu	37	2	85629268	85629268	+	Translation_Start_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:85629268T>C	ENST00000263867.4	-	2	250	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CAPG_ENST00000409724.1_Start_Codon_SNP_p.M1V|CAPG_ENST00000409921.1_Start_Codon_SNP_p.M1V|CAPG_ENST00000409670.1_Start_Codon_SNP_p.M1V	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	1					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GCTGTGTACATGCTGTCTTCA	0.522000													6	6					0	0	0.004482	0	0
SLC2A13	114134	broad.mit.edu	37	12	40499284	40499284	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:40499284G>A	ENST00000280871.4	-	1	377	c.327C>T	c.(325-327)ctC>ctT	p.L109L	SLC2A13_ENST00000380858.1_Silent_p.L109L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	109						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCTGCCGCTTGAGCAGCAGCA	0.697000										HNSCC(50;0.14)			3	3					0	0	0.004672	0	0
ADCY7	113	broad.mit.edu	37	16	50332877	50332877	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:50332877C>T	ENST00000394697.2	+	8	1351	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ADCY7_ENST00000564044.1_3'UTR|ADCY7_ENST00000254235.3_Silent_p.P337P|ADCY7_ENST00000538642.1_Silent_p.P337P|ADCY7_ENST00000537579.1_Silent_p.P337P|ADCY7_ENST00000566433.2_Silent_p.P337P			P51828	ADCY7_HUMAN	adenylate cyclase 7	337	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGGGCCTGCCCGTGTCGCTGC	0.637000													28	39					0	0	0.006320	0	0
MCM8	84515	broad.mit.edu	37	20	5966679	5966679	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:5966679C>T	ENST00000378896.3	+	16	2442	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	MCM8_ENST00000378883.1_Missense_Mutation_p.L642F|MCM8_ENST00000378886.2_Missense_Mutation_p.L729F|MCM8_ENST00000265187.4_Missense_Mutation_p.L673F	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	689					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TGCTCGAGTTCTTCAAGATTT	0.463000													25	39					0	0	0.004656	0	0
TMEM220	388335	broad.mit.edu	37	17	10628432	10628432	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:10628432A>G	ENST00000341871.3	-	4	647	c.183T>C	c.(181-183)agT>agC	p.S61S	TMEM220_ENST00000455996.2_Silent_p.S51S|TMEM220_ENST00000578345.1_Silent_p.S51S|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	61						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						TTGCAGAGATACTTTTCCAAA	0.388000													12	16					0	0	0.013537	0	0
NUP133	55746	broad.mit.edu	37	1	229625722	229625722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:229625722G>A	ENST00000261396.3	-	9	1265	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.Q376*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	392					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGATTATATTGAGTGACTTCT	0.318000													16	23					0	0	0.010504	0	0
ALPK3	57538	broad.mit.edu	37	15	85402570	85402570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:85402570C>T	ENST00000258888.5	+	7	4687	c.4520C>T	c.(4519-4521)tCa>tTa	p.S1507L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1507	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTAGTGACTCAGTCTTGACA	0.572000													4	25					0	0	0.009096	0	0
PDCD4	27250	broad.mit.edu	37	10	112641080	112641080	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:112641080A>G	ENST00000393104.2	+	4	460	c.100A>G	c.(100-102)Att>Gtt	p.I34V	PDCD4_ENST00000280154.7_Missense_Mutation_p.I45V	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	45					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGAAATTGGATTTCAGCATC	0.413000													23	88					0	0	0.002780	0	0
SLC38A9	153129	broad.mit.edu	37	5	54922436	54922436	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:54922436G>A	ENST00000396865.2	-	16	2163	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	SLC38A9_ENST00000512595.1_Silent_p.L461L|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Silent_p.L461L|SLC38A9_ENST00000318672.3_Silent_p.L524L|SLC38A9_ENST00000416547.2_Silent_p.L400L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	524					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TTATATAGATGAGAGATGGGT	0.398000													32	58					0	0	0.004289	0	0
NAA15	80155	broad.mit.edu	37	4	140299923	140299923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:140299923G>A	ENST00000296543.5	+	17	2393	c.2070G>A	c.(2068-2070)ttG>ttA	p.L690L	NAA15_ENST00000398947.1_Silent_p.L690L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	690					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGTTTCTTTTGATGCTACAAT	0.338000													13	30					0	0	0.013537	0	0
GAR1	54433	broad.mit.edu	37	4	110737358	110737358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:110737358G>C	ENST00000226796.6	+	2	302	c.38G>C	c.(37-39)cGa>cCa	p.R13P	GAR1_ENST00000394631.3_Missense_Mutation_p.R13P	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	13	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGCTTTAATCGAggtggtgga	0.577000													22	44					0	0	0.012319	0	0
FANCI	55215	broad.mit.edu	37	15	89848417	89848417	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:89848417A>C	ENST00000310775.7	+	29	3216	c.3130A>C	c.(3130-3132)Att>Ctt	p.I1044L	FANCI_ENST00000300027.8_Missense_Mutation_p.I984L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1044					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGTCCTGTCATTCTGCTGCG	0.453000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	58					0	0	0.005443	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839572	124839572	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124839572C>T	ENST00000430155.2	-	1	126	c.98G>A	c.(97-99)gGa>gAa	p.G33E	SLC12A8_ENST00000469902.1_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000314584.7_Intron|SLC12A8_ENST00000423114.2_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	0					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCAGCCTCCTCCACGCATCGC	0.662000													27	7					0	0	0.003954	0	0
C19orf35	374872	broad.mit.edu	37	19	2276228	2276228	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:2276228G>A	ENST00000342063.3	-	4	966	c.873C>T	c.(871-873)gcC>gcT	p.A291A		NM_198532.2	NP_940934.1	Q6ZS72	CS035_HUMAN	chromosome 19 open reading frame 35	291										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACTTCAGGGCCGCGCTCA	0.726000													6	3					0	0	0.001168	0	0
OR6C2	341416	broad.mit.edu	37	12	55846108	55846108	+	Silent	SNP	A	A	G	rs142313431		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55846108A>G	ENST00000322678.1	+	1	111	c.111A>G	c.(109-111)gtA>gtG	p.V37V	RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGTTGAGTGTAACAGGGAACC	0.403000													20	42					0	0	0.010504	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501167	90501167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:90501167C>T	ENST00000325643.5	+	4	1831	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAAAAAGTCTCAGGCTGTTCT	0.587000													54	62					0	0	0.014410	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583820	145583820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145583820C>T	ENST00000532887.1	+	3	1251	c.668C>T	c.(667-669)tCt>tTt	p.S223F	SLC52A2_ENST00000402965.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S135F|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S223F			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	223						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCACCACCATCTGTACCCACA	0.612000													40	39					0	0	0.008740	0	0
ILDR2	387597	broad.mit.edu	37	1	166926077	166926077	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:166926077T>G	ENST00000271417.3	-	3	447	c.392A>C	c.(391-393)cAa>cCa	p.Q131P	ILDR2_ENST00000528703.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000529387.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000525740.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000526687.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000529071.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000469934.2_Missense_Mutation_p.Q131P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	131	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTTTCCAATTTGAAGATCTGC	0.448000													8	44					0	0	0.004482	0	0
TMC8	147138	broad.mit.edu	37	17	76134245	76134245	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:76134245C>T	ENST00000318430.5	+	12	1883	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L	TMC8_ENST00000589691.1_Silent_p.L280L	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	503						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCGTCTTCCTCTTCCTCACCT	0.617000													13	66					0	0	0.002450	0	0
EXPH5	23086	broad.mit.edu	37	11	108383163	108383163	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:108383163C>G	ENST00000265843.4	-	6	3181	c.3071G>C	c.(3070-3072)aGa>aCa	p.R1024T	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1017T|EXPH5_ENST00000443411.1_Missense_Mutation_p.R836T|EXPH5_ENST00000428840.1_Missense_Mutation_p.R948T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1024					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCTTGATTTTCTTGGCAAGGT	0.398000													21	23					0	0	0.014323	0	0
DOCK4	9732	broad.mit.edu	37	7	111541741	111541741	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:111541741T>C	ENST00000428084.1	-	14	1581	c.1309A>G	c.(1309-1311)Acc>Gcc	p.T437A	DOCK4_ENST00000437633.1_Missense_Mutation_p.T437A|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	437	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTTCAGGGTTTGGCCACTA	0.358000													11	39					0	0	0.008291	0	0
VWA8	23078	broad.mit.edu	37	13	42189117	42189117	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:42189117C>T	ENST00000379310.3	-	38	4783	c.4715G>A	c.(4714-4716)gGa>gAa	p.G1572E		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CCAACCTGTTCCGCCAGCCCA	0.577000													9	42					0	0	0.004482	0	0
NCK1	4690	broad.mit.edu	37	3	136667120	136667120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:136667120C>T	ENST00000469404.1	+	3	858	c.767C>T	c.(766-768)tCa>tTa	p.S256L	IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.S320L|NCK1_ENST00000481752.1_Missense_Mutation_p.S320L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	320					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTCTCAGTATCACTAAAAGCA	0.318000													10	18					0	0	0.013537	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3386012	3386012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:3386012C>T	ENST00000378378.4	+	6	1282	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.L5F|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.L5F	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	293	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCGAGATCCTCACGTCGGA	0.627000													23	41					0	0	0.004656	0	0
TRPM1	4308	broad.mit.edu	37	15	31360175	31360175	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:31360175T>C	ENST00000542188.1	-	4	764	c.451A>G	c.(451-453)Atg>Gtg	p.M151V	TRPM1_ENST00000256552.6_Missense_Mutation_p.M134V|TRPM1_ENST00000397795.2_Missense_Mutation_p.M112V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	112					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGGGCTGCATCTCAAAGTTC	0.537000													22	81					0	0	0.014323	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634195	70634195	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:70634195C>T	ENST00000381269.2	-	2	1698	c.945G>A	c.(943-945)gaG>gaA	p.E315E	SLC8A3_ENST00000356921.2_Silent_p.E315E|SLC8A3_ENST00000357887.3_Silent_p.E315E|SLC8A3_ENST00000534137.1_Silent_p.E315E|SLC8A3_ENST00000528359.1_Silent_p.E315E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	315					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCGGATCATCTCTCTGCGGG	0.483000													14	44					0	0	0.003163	0	0
CORO1C	23603	broad.mit.edu	37	12	109052672	109052672	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109052672A>C	ENST00000261401.3	-	5	644	c.472T>G	c.(472-474)Tgg>Ggg	p.W158G	CORO1C_ENST00000421578.2_Missense_Mutation_p.W53G|CORO1C_ENST00000420959.2_Missense_Mutation_p.W211G|CORO1C_ENST00000549772.1_Missense_Mutation_p.W164G|CORO1C_ENST00000541050.1_Missense_Mutation_p.W158G|CORO1C_ENST00000549384.1_Intron	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	158					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCCACATTCCAGATGATAATG	0.413000													20	61					0	0	0.012319	0	0
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:142175310C>G	ENST00000519811.1	+	11	1545	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	DENND3_ENST00000424248.1_Missense_Mutation_p.S360C|DENND3_ENST00000262585.2_Missense_Mutation_p.S412C			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557000													51	71					0	0	0.014410	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950043	55950043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:55950043G>A	ENST00000577830.1	-	5	1178	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CUEDC1_ENST00000577840.1_Silent_p.F118F|CUEDC1_ENST00000407144.2_Silent_p.F255F|CUEDC1_ENST00000360238.2_Silent_p.F255F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	255										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GAGCGAGGAGGAAGTCGCGGT	0.597000													5	37					0	0	0.001168	0	0
TOP3B	8940	broad.mit.edu	37	22	22322014	22322014	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:22322014C>T	ENST00000398793.2	-	8	1247	c.813G>A	c.(811-813)caG>caA	p.Q271Q	TOP3B_ENST00000357179.5_Silent_p.Q271Q|TOP3B_ENST00000413067.2_5'UTR	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	271					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTAAAAACATCTGTGCGATCT	0.502000													31	73					0	0	0.003271	0	0
TLX3	30012	broad.mit.edu	37	5	170736467	170736467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:170736467C>T	ENST00000296921.5	+	1	180	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAGCGCACCCGCCCCGCGG	0.751000			T	BCL11B	T-ALL								3	12					0	0	0.004672	0	0
ABCC12	94160	broad.mit.edu	37	16	48180326	48180326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:48180326C>T	ENST00000311303.3	-	1	355	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	ABCC12_ENST00000416054.1_Missense_Mutation_p.E4K|ABCC12_ENST00000448542.1_Missense_Mutation_p.E4K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	4						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGGGTCCTTCACCCACCATC	0.552000													8	55					0	0	0.004482	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856541	224856541	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224856541G>T	ENST00000409840.3	-	5	1324	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	SERPINE2_ENST00000447280.2_Missense_Mutation_p.Q234K|SERPINE2_ENST00000258405.4_Missense_Mutation_p.Q222K|SERPINE2_ENST00000409304.1_Missense_Mutation_p.Q222K			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	222					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACGGAGAGCTGGGCCAGCATT	0.527000													14	42					1.5842e-08	1.68127e-08	0.001855	1	0
MORC1	27136	broad.mit.edu	37	3	108690187	108690187	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:108690187A>G	ENST00000232603.5	-	25	2622	c.2540T>C	c.(2539-2541)tTa>tCa	p.L847S	MORC1_ENST00000483760.1_Missense_Mutation_p.L826S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	847					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACAACTTAATGCAGGTTC	0.383000													28	76					0	0	0.008361	0	0
LCLAT1	253558	broad.mit.edu	37	2	30790955	30790955	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:30790955G>C	ENST00000309052.4	+	6	864	c.655G>C	c.(655-657)Gct>Cct	p.A219P	LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181P|LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219P|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181P|LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219P	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	219					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TAATGCATTTGCTGAAAAAAA	0.343000													25	46					0	0	0.005443	0	0
FOXI3	344167	broad.mit.edu	37	2	88751512	88751512	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:88751512G>A	ENST00000398142.3	-	0	619							A8MTJ6	FOXI3_HUMAN	forkhead box I3						epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						TGCGCTGGTAGAAGGGGAAGC	0.617000													4	8					0	0	0.009096	0	0
TC2N	123036	broad.mit.edu	37	14	92258883	92258883	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:92258883G>A	ENST00000435962.2	-	9	1198	c.875C>T	c.(874-876)aCg>aTg	p.T292M	TC2N_ENST00000360594.5_Missense_Mutation_p.T292M|TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.T292M	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	292						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAATACAAACGTTTCCATAAA	0.254000													6	24					0	0	0.001984	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355114	41355114	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:41355114C>T	ENST00000357743.4	+	2	399	c.198C>T	c.(196-198)ctC>ctT	p.L66L	GOLGA7_ENST00000520817.1_Silent_p.L66L|GOLGA7_ENST00000405786.2_Silent_p.L66L|GOLGA7_ENST00000518270.1_Silent_p.L66L	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	66						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGTCATATCTCGAAGGTTGTT	0.383000													21	112					0	0	0.014323	0	0
PDX1	3651	broad.mit.edu	37	13	28494606	28494606	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:28494606G>A	ENST00000381033.4	+	1	450	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	111					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CGTCCTGGAGGAGCCCAACCG	0.701000													6	6					0	0	0.001984	0	0
NAIP	4671	broad.mit.edu	37	5	70308505	70308505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:70308505C>A	ENST00000517649.1	-	4	528	c.238G>T	c.(238-240)Gag>Tag	p.E80*	NAIP_ENST00000508426.2_Nonsense_Mutation_p.E80*|NAIP_ENST00000194097.4_Nonsense_Mutation_p.E80*|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	80					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCGCCATCTCCTGTGGTATC	0.488000													25	86					1.96895e-08	2.08194e-08	0.002780	1	0
GOLGB1	2804	broad.mit.edu	37	3	121415253	121415253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:121415253C>T	ENST00000393667.3	-	13	4227	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1368K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1368					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGGCTTTCGGCATGGACT	0.398000													288	141					0	0	0.014410	0	0
RBM27	54439	broad.mit.edu	37	5	145634557	145634557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:145634557C>T	ENST00000265271.5	+	10	1662	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	RBM27_ENST00000506502.1_Missense_Mutation_p.S444F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	499					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTACTAGTTCTGGTAGATCT	0.408000													16	31					0	0	0.007413	0	0
LIMA1	51474	broad.mit.edu	37	12	50571638	50571638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:50571638G>A	ENST00000547825.1	-	5	1852	c.583C>T	c.(583-585)Cct>Tct	p.P195S	LIMA1_ENST00000552491.1_Missense_Mutation_p.P194S|LIMA1_ENST00000341247.4_Missense_Mutation_p.P497S|LIMA1_ENST00000552783.1_Missense_Mutation_p.P338S|LIMA1_ENST00000394943.3_Missense_Mutation_p.P498S|LIMA1_ENST00000552823.1_Missense_Mutation_p.P337S|LIMA1_ENST00000552909.1_Missense_Mutation_p.P336S	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	497					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTAGCAATAGGGGCATCTTCT	0.522000													45	85					0	0	0.009718	0	0
DLL1	28514	broad.mit.edu	37	6	170597489	170597489	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:170597489C>T	ENST00000366756.3	-	4	841	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	170					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACTTGAGGTCCGTGCGGCCG	0.627000													21	21					0	0	0.014323	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096303	41096303	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:41096303C>T	ENST00000291842.5	+	16	1792	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	SHKBP1_ENST00000600733.1_Silent_p.A556A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	581						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAACCACCGCCATGGACGGCC	0.697000													23	12					0	0	0.003954	0	0
RBM12B	389677	broad.mit.edu	37	8	94747139	94747139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:94747139C>G	ENST00000399300.2	-	3	1713	c.1500G>C	c.(1498-1500)caG>caC	p.Q500H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.Q500H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	500							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCACGTGACTGTGAGCGAG	0.408000													23	88					0	0	0.012319	0	0
KCNH6	81033	broad.mit.edu	37	17	61615788	61615788	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:61615788C>T	ENST00000583023.1	+	8	1730	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	KCNH6_ENST00000581784.1_Silent_p.P520P|KCNH6_ENST00000314672.5_Silent_p.P573P|KCNH6_ENST00000456941.2_Silent_p.P520P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	573					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGGCTTCCCCGAGTGCCTGC	0.731000													8	13					0	0	0.008291	0	0
TCF20	6942	broad.mit.edu	37	22	42607770	42607770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:42607770G>A	ENST00000359486.3	-	1	3678	c.3542C>T	c.(3541-3543)tCc>tTc	p.S1181F	TCF20_ENST00000335626.4_Missense_Mutation_p.S1181F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1181	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAACTTCTGGGAGCCATGCTT	0.532000													22	59					0	0	0.010504	0	0
AF015720.3	0	broad.mit.edu	37	21	37093072	37093072	+	RNA	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:37093072G>T	ENST00000412240.1	-	0	40				MIR802_ENST00000390235.1_RNA																							GCAACAAGGAGAATCTTTGTC	0.433000													11	38					6.40141e-05	6.70329e-05	0.010729	1	0
ITPR1	3708	broad.mit.edu	37	3	4818947	4818947	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:4818947G>A	ENST00000302640.8	+	47	6485		c.e47-1		ITPR1_ENST00000354582.6_Splice_Site|ITPR1_ENST00000456211.2_Splice_Site|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000443694.2_Splice_Site|ITPR1_ENST00000357086.4_Splice_Site|ITPR1_ENST00000423119.2_Splice_Site	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTTTGCTCAGAACTGCATAG	0.448000													3	4					0	0	0.004672	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664039	39664039	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:39664039G>A	ENST00000263881.3	-	1	414	c.90C>T	c.(88-90)gtC>gtT	p.V30V	MAP4K3_ENST00000484274.1_Silent_p.V30V|MAP4K3_ENST00000341681.5_Silent_p.V30V|AC007246.3_ENST00000426083.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	30	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTACCTTGTAGACGTCGCCGT	0.701000													8	14					0	0	0.004482	0	0
SNF8	11267	broad.mit.edu	37	17	47013602	47013602	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:47013602G>A	ENST00000502492.1	-	5	734	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	AC091133.1_ENST00000435491.1_RNA|SNF8_ENST00000290330.3_Silent_p.L118L|SNF8_ENST00000514089.1_5'UTR			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	118					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						AAAGTTATCAGACCTGTTTGG	0.428000													3	24					0	0	0.009096	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493296	20493296	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:20493296C>T	ENST00000202677.7	-	32	4724	c.4717G>A	c.(4717-4719)Gag>Aag	p.E1573K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGATATACTCATCCTCTTGA	0.468000													5	51					0	0	0.001168	0	0
ITGB5	3693	broad.mit.edu	37	3	124487931	124487931	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124487931G>A	ENST00000296181.4	-	12	2242	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	649					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AGGTTTCCCAGAGTGGAGCAG	0.557000													138	46					0	0	0.014410	0	0
FGB	2244	broad.mit.edu	37	4	155487699	155487699	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:155487699C>A	ENST00000302068.4	+	3	428	c.365C>A	c.(364-366)cCa>cAa	p.P122Q	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	122					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGGAAAGGCCAATCAGAAAT	0.418000													15	34					0.000308642	0.000320484	0.003163	1	0
CHD5	26038	broad.mit.edu	37	1	6189100	6189100	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:6189100C>T	ENST00000262450.3	-	23	3516	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1139	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCTTGTTCTGGCCGATGC	0.642000													18	26					0	0	0.008871	0	0
SPOPL	339745	broad.mit.edu	37	2	139308578	139308578	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:139308578C>T	ENST00000280098.4	+	4	685	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	102	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAGCAAAATTCAAATTTTCCC	0.353000													24	56					0	0	0.004656	0	0
BIN1	274	broad.mit.edu	37	2	127834283	127834283	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:127834283C>T	ENST00000316724.5	-	2	496		c.e2-1		BIN1_ENST00000351659.3_Splice_Site|BIN1_ENST00000376113.2_Splice_Site|BIN1_ENST00000352848.3_Splice_Site|BIN1_ENST00000409400.1_Splice_Site|BIN1_ENST00000348750.4_Splice_Site|BIN1_ENST00000346226.3_Splice_Site|BIN1_ENST00000259238.4_Splice_Site|BIN1_ENST00000393041.3_Splice_Site|BIN1_ENST00000393040.3_Splice_Site|BIN1_ENST00000357970.3_Splice_Site	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTGGAGAACCTGCCGAAGCC	0.547000													51	79					0	0	0.014410	0	0
ANGPT4	51378	broad.mit.edu	37	20	896835	896835	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:896835A>G	ENST00000381922.3	-	1	125	c.23T>C	c.(22-24)cTg>cCg	p.L8P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.L8P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	8					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGCCCTGCAGCATGGCTAG	0.602000													17	42					0	0	0.010504	0	0
ITIH1	3697	broad.mit.edu	37	3	52812034	52812034	+	Splice_Site	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:52812034G>T	ENST00000273283.2	+	2	162		c.e2+1		ITIH1_ENST00000542827.1_Splice_Site	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562000													33	71					1.22674e-20	1.33128e-20	0.008740	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799820	119799820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:119799820C>T	ENST00000355624.3	-	2	1049	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E204K	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	204					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCTGTATTTCACCACTTGAA	0.413000													35	52					0	0	0.003271	0	0
SREBF1	6720	broad.mit.edu	37	17	17716923	17716923	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:17716923A>G	ENST00000355815.4	-	18	3321	c.3152T>C	c.(3151-3153)cTg>cCg	p.L1051P	SREBF1_ENST00000338854.5_Missense_Mutation_p.L1021P|SREBF1_ENST00000395757.1_Missense_Mutation_p.L767P|SREBF1_ENST00000261646.5_Missense_Mutation_p.L1021P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1021					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CAGCCGCCTCAGGCTGCTCAG	0.711000													2	5					0	0	0.004672	0	0
TRMT61A	115708	broad.mit.edu	37	14	103996324	103996324	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:103996324C>G	ENST00000389749.4	+	2	116	c.9C>G	c.(7-9)ttC>ttG	p.F3L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	3						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CCATGAGCTTCGTGGCATACG	0.617000													3	12					0	0	0.000602	0	0
LSM11	134353	broad.mit.edu	37	5	157171172	157171172	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:157171172G>A	ENST00000286307.5	+	1	470	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	138					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGAGCAGGAAGGCGCCAC	0.751000													3	4					0	0	0.004672	0	0
TBCD	6904	broad.mit.edu	37	17	80899327	80899327	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:80899327C>T	ENST00000355528.4	+	38	3662	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L	TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Silent_p.L1216L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1178					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTGTGACCTTCTGGGCGTACC	0.627000													3	8					0	0	0.004672	0	0
COPS2	9318	broad.mit.edu	37	15	49437268	49437268	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:49437268G>C	ENST00000388901.5	-	2	135	c.62C>G	c.(61-63)tCt>tGt	p.S21C	COPS2_ENST00000542928.1_Intron|COPS2_ENST00000299259.6_Missense_Mutation_p.S21C	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	21					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTATCTTCAGAGTATTCCTG	0.348000													14	41					0	0	0.003163	0	0
FAM53B	9679	broad.mit.edu	37	10	126370704	126370704	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:126370704G>A	ENST00000337318.3	-	4	589	c.378C>T	c.(376-378)tgC>tgT	p.C126C	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.C126C|FAM53B_ENST00000392754.3_Silent_p.C126C	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	126										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ATGATGTCCGGCAACTGGACA	0.602000													3	17					0	0	0.004672	0	0
DSTYK	25778	broad.mit.edu	37	1	205180623	205180623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:205180623G>A	ENST00000367162.3	-	1	71	c.41C>T	c.(40-42)tCg>tTg	p.S14L	DSTYK_ENST00000367161.3_Missense_Mutation_p.S14L|DSTYK_ENST00000367160.4_Missense_Mutation_p.S14L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	14						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCCGGGACCCGAGACGGGCTC	0.756000													4	5					0	0	0.009096	0	0
CHD1	1105	broad.mit.edu	37	5	98195774	98195774	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:98195774T>C	ENST00000284049.3	-	32	4577		c.e32-2			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACAGGTTTCTAGAAGAATTT	0.313000													7	31					0	0	0.001984	0	0
TMEM143	55260	broad.mit.edu	37	19	48867179	48867179	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:48867179G>A	ENST00000541566.1	-	1	16	c.15C>T	c.(13-15)ctC>ctT	p.L5L	TMEM143_ENST00000436660.2_5'UTR|TMEM143_ENST00000293261.3_5'UTR|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000435956.3_5'UTR|TMEM143_ENST00000377431.2_5'UTR			Q96AN5	TM143_HUMAN	transmembrane protein 143	0						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GACTGTCATTGAGCCTCCTGC	0.602000													99	47					0	0	0.014410	0	0
TP53BP2	7159	broad.mit.edu	37	1	223986194	223986194	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:223986194C>T	ENST00000391878.2	-	13	2052	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.P557P|TP53BP2_ENST00000391879.2_Intron	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	551					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P428P(1)|p.P557P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACTCTCGGCTGCTGCC	0.542000													47	116					0	0	0.014410	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962754	69962754	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:69962754C>T	ENST00000305231.7	+	1	562	c.516C>T	c.(514-516)ctC>ctT	p.L172L	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.L172L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	172					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACAGTCTCAGCTTCTCTC	0.398000													19	65					0	0	0.008871	0	0
GOLGA3	2802	broad.mit.edu	37	12	133351795	133351795	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:133351795T>G	ENST00000204726.3	-	22	4633	c.4075A>C	c.(4075-4077)Aac>Cac	p.N1359H	GOLGA3_ENST00000450791.2_Missense_Mutation_p.N1359H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1359H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1359	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCATGTTGTTCTTCAGC	0.582000													16	50					0	0	0.003163	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941694	6941694	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:6941694C>T	ENST00000308027.6	+	3	875	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	189						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGCTCTCCTCCGCCCACCCT	0.657000													32	44					0	0	0.012213	0	0
WDR76	79968	broad.mit.edu	37	15	44127283	44127283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:44127283G>A	ENST00000263795.6	+	3	557	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	WDR76_ENST00000381246.2_Missense_Mutation_p.E99K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	163										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GTCACCCTACGAAAGGAAGAG	0.358000													8	28					0	0	0.003080	0	0
ADH4	127	broad.mit.edu	37	4	100047780	100047780	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:100047780G>A	ENST00000508393.1	-	9	1305	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	ADH4_ENST00000505590.1_Silent_p.I380I|ADH4_ENST00000423445.1_Silent_p.I380I|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.I361I			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	361				F -> FGRCQEQFRILSD (in Ref. 1; AAA51595).	alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATGCCTCACTGATTTTGTCAA	0.353000													17	46					0	0	0.014323	0	0
RNF2	6045	broad.mit.edu	37	1	185056735	185056735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185056735G>A	ENST00000367510.3	+	2	338	c.50G>A	c.(49-51)tGg>tAg	p.W17*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.W17*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	17	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGCAAAACATGGGAACTCAGT	0.388000													26	66					0	0	0.010818	0	0
FAM83D	81610	broad.mit.edu	37	20	37570635	37570635	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:37570635A>G	ENST00000217429.4	+	2	648	c.607A>G	c.(607-609)Atc>Gtc	p.I203V		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	173					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCACAGACATCGACATCTT	0.478000													25	58					0	0	0.004656	0	0
MS4A14	84689	broad.mit.edu	37	11	60184148	60184148	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:60184148G>A	ENST00000300187.6	+	5	1984	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	MS4A14_ENST00000531783.1_Silent_p.Q602Q|MS4A14_ENST00000395005.2_Silent_p.Q552Q|MS4A14_ENST00000531787.1_Silent_p.Q457Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	569	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGAAGATCAGCAAGCCAAAG	0.438000													17	8					0	0	0.004007	0	0
NKX2-8	26257	broad.mit.edu	37	14	37050400	37050400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:37050400G>A	ENST00000258829.5	-	2	644	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	143					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGGAGCGCGAGCGCGCTTC	0.701000													4	6					0	0	0.000602	0	0
ARID4A	5926	broad.mit.edu	37	14	58820410	58820410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:58820410G>A	ENST00000355431.3	+	17	2063	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000348476.3_Missense_Mutation_p.E564K|ARID4A_ENST00000395168.3_Missense_Mutation_p.E564K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E564K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	564					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCTGAAGGAGAGGAAGATGA	0.358000													11	16					0	0	0.010729	0	0
ASPM	259266	broad.mit.edu	37	1	197111797	197111797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:197111797C>G	ENST00000367409.4	-	3	1841	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E529Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	529					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						ATTACTTTTTCATGTTCACCC	0.313000													31	95					0	0	0.009535	0	0
DPP3	10072	broad.mit.edu	37	11	66272161	66272161	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:66272161G>A	ENST00000532677.1	+	17	2415	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	DPP3_ENST00000531863.1_Missense_Mutation_p.E673K|DPP3_ENST00000541961.1_Missense_Mutation_p.E653K|DPP3_ENST00000360510.2_Missense_Mutation_p.E653K|DPP3_ENST00000530165.1_Missense_Mutation_p.E623K|DPP3_ENST00000453114.1_Missense_Mutation_p.E653K	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	653					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGCGCCCCCCGAGTGCTTCCT	0.572000													28	73					0	0	0.004656	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268459	53268459	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:53268459C>A	ENST00000396435.3	-	11	3233	c.3033G>T	c.(3031-3033)caG>caT	p.Q1011H	IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q806H|IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1001H	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1001	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCTTCTTCTTCTGGAAAATTT	0.498000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0.000308642	0.000320484	0.003163	1	0
PEAK1	79834	broad.mit.edu	37	15	77406944	77406944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:77406944T>G	ENST00000560626.2	-	7	5270	c.4795A>C	c.(4795-4797)Atc>Ctc	p.I1599L	PEAK1_ENST00000312493.4_Missense_Mutation_p.I1599L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1599	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ATCTCATAGATGAGGATGCCT	0.547000													16	28					0	0	0.003163	0	0
SETDB2	83852	broad.mit.edu	37	13	50050956	50050956	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:50050956A>T	ENST00000354234.4	+	6	1556	c.650A>T	c.(649-651)cAg>cTg	p.Q217L	SETDB2_ENST00000258672.5_Missense_Mutation_p.Q217L|SETDB2_ENST00000317257.8_Missense_Mutation_p.Q229L	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	229	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACCTATGTTCAGTTGGCTCGG	0.378000													34	49					0	0	0.013726	0	0
TEP1	7011	broad.mit.edu	37	14	20871547	20871547	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:20871547C>G	ENST00000262715.5	-	7	1295	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E311Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	419	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTTCTCTGCTCTTCTCTGAGA	0.408000													65	97					0	0	0.014410	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797576	148797576	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:148797576G>A	ENST00000355220.5	+	5	532	c.430G>A	c.(430-432)Gag>Aag	p.E144K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E115K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	144						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCCAAGCTGAGGAGCAGGA	0.577000													10	28					0	0	0.008291	0	0
GPR151	134391	broad.mit.edu	37	5	145895361	145895361	+	Missense_Mutation	SNP	G	G	T	rs147138565	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:145895361G>T	ENST00000311104.2	-	1	392	c.316C>A	c.(316-318)Cta>Ata	p.L106I		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCAGCCTAGATCCCAAACA	0.507000													14	60					1.5842e-08	1.68127e-08	0.001855	1	0
ZBTB21	49854	broad.mit.edu	37	21	43413477	43413477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:43413477G>A	ENST00000310826.5	-	3	911	c.728C>T	c.(727-729)tCa>tTa	p.S243L	ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Missense_Mutation_p.S243L|ZBTB21_ENST00000398511.3_Missense_Mutation_p.S243L|ZBTB21_ENST00000398499.1_Missense_Mutation_p.S243L	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CAGAGGCTTTGAAGGCAACAC	0.428000													14	17					0	0	0.001855	0	0
TIMP4	7079	broad.mit.edu	37	3	12195844	12195844	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:12195844G>A	ENST00000287814.4	-	4	970	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	154	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CCACAGTTCAGATGGTAGTGA	0.473000													72	157					0	0	0.014410	0	0
FAM193A	8603	broad.mit.edu	37	4	2664635	2664635	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:2664635G>A	ENST00000324666.5	+	9	1294	c.943G>A	c.(943-945)Gat>Aat	p.D315N	FAM193A_ENST00000505311.1_Missense_Mutation_p.D315N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D315N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D337N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D315N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	315										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GAGTAATTATGATGATACCGA	0.453000													18	45					0	0	0.006122	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697834	17697834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:17697834A>G	ENST00000399080.2	-	1	1872	c.1849T>C	c.(1849-1851)Tat>Cat	p.Y617H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	617										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTTGGATACTTCAAATAA	0.269000													8	9					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179439443	179439443	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179439443T>C	ENST00000589042.1	-	326	71640	c.71416A>G	c.(71416-71418)Aga>Gga	p.R23806G	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R22165G|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14866G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21238G|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14933G|TTN_ENST00000460472.2_Missense_Mutation_p.R14741G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22165	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCATATCTATTCTGAGCT	0.463000													32	55					0	0	0.003271	0	0
TROAP	10024	broad.mit.edu	37	12	49719543	49719543	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:49719543C>G	ENST00000551245.1	+	5	620	c.509C>G	c.(508-510)tCt>tGt	p.S170C	TROAP_ENST00000257909.3_Missense_Mutation_p.S170C			Q12815	TROAP_HUMAN	trophinin associated protein	170					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTTCGGGCCTCTGCATATTTG	0.622000													12	36					0	0	0.013537	0	0
PUM2	23369	broad.mit.edu	37	2	20455083	20455083	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:20455083T>G	ENST00000361078.2	-	17	2670	c.2648A>C	c.(2647-2649)cAt>cCt	p.H883P	PUM2_ENST00000536417.1_Missense_Mutation_p.H825P|PUM2_ENST00000338086.5_Missense_Mutation_p.H881P|PUM2_ENST00000319801.5_Missense_Mutation_p.H804P|PUM2_ENST00000403432.1_Missense_Mutation_p.H881P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	883	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATAAGGATGAGTTGAAAG	0.383000													14	26					0	0	0.002450	0	0
PRMT10	90826	broad.mit.edu	37	4	148605049	148605049	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:148605049C>T	ENST00000322396.6	-	1	332	c.90G>A	c.(88-90)caG>caA	p.Q30Q	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	30						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GCTCTGCGCTCTGCAAGGACC	0.692000													15	34					0	0	0.002450	0	0
UNK	85451	broad.mit.edu	37	17	73813469	73813469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73813469C>T	ENST00000293218.3	+	10	1395	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	UNK_ENST00000589666.1_Silent_p.S389S			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	389							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGGGCTCCATCAGGAAGC	0.657000													20	83					0	0	0.002780	0	0
GIGYF2	26058	broad.mit.edu	37	2	233721509	233721509	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233721509C>T	ENST00000373566.3	+	30	4102	c.3905C>T	c.(3904-3906)tCa>tTa	p.S1302L	GIGYF2_ENST00000373563.4_Missense_Mutation_p.S1280L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S1274L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S1301L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S1302L|GIGYF2_ENST00000409547.1_Missense_Mutation_p.S1280L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1280					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGGATTTTCAGTCAATGCA	0.507000													32	66					0	0	0.003271	0	0
SERAC1	84947	broad.mit.edu	37	6	158565401	158565401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:158565401C>T	ENST00000367102.2	-	7	680	c.539G>A	c.(538-540)gGt>gAt	p.G180D	SERAC1_ENST00000367101.1_Missense_Mutation_p.G180D|SERAC1_ENST00000367104.3_Missense_Mutation_p.G180D			Q96JX3	SRAC1_HUMAN	serine active site containing 1	180					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCGTGCCAAACCAATAAGAGT	0.343000													18	19					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100684143	100684143	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:100684143C>T	ENST00000306151.4	+	3	9510	c.9446C>T	c.(9445-9447)tCt>tTt	p.S3149F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3149	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)					CCTACAACTTCTGAAGGTACC	0.488000													68	311					0	0	0.014410	0	0
DCHS2	54798	broad.mit.edu	37	4	155305519	155305519	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:155305519C>T	ENST00000357232.4	-	2	234		c.e2+1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		actgacctcacctcagtttcc	0.502000													11	32					0	0	0.002450	0	0
PDCD5	9141	broad.mit.edu	37	19	33076796	33076796	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:33076796G>A	ENST00000419343.3	+	4	302	c.241G>A	c.(241-243)Gga>Aga	p.G81R	PDCD5_ENST00000590247.2_Missense_Mutation_p.G81R|PDCD5_ENST00000586035.1_Missense_Mutation_p.G43R|PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000379316.3_Intron			O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					GGCAAGATATGGACAACTAAG	0.358000													18	102					0	0	0.012319	0	0
TDRD5	163589	broad.mit.edu	37	1	179621324	179621324	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:179621324C>T	ENST00000444136.1	+	13	2402	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TDRD5_ENST00000294848.8_Missense_Mutation_p.R718C|TDRD5_ENST00000367614.1_Missense_Mutation_p.R718C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	718					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGTGAGTTACGTATCTTGGT	0.353000													12	25					0	0	0.013537	0	0
DEFB127	140850	broad.mit.edu	37	20	139536	139536	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:139536C>T	ENST00000382388.3	+	2	246	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	57					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCCTCAATATCAAGGAACTGG	0.393000													12	14					0	0	0.003163	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950397	110950397	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:110950397G>A	ENST00000256644.4	-	1	167	c.92C>T	c.(91-93)tCc>tTc	p.S31F	LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		TTCTTTACTGGAAAACATCAC	0.622000													11	26					0	0	0.008291	0	0
ADM	133	broad.mit.edu	37	11	10327902	10327902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:10327902G>A	ENST00000528655.1	+	3	889	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ADM_ENST00000530439.1_Missense_Mutation_p.R23Q|ADM_ENST00000534464.1_Missense_Mutation_p.R44Q|ADM_ENST00000278175.5_Missense_Mutation_p.R91Q|ADM_ENST00000525063.1_Missense_Mutation_p.R91Q|ADM_ENST00000526492.1_Silent_p.P101P			P35318	ADML_HUMAN	adrenomedullin	91					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCCCGCATCCGAGTCAAGCGC	0.647000													20	23					0	0	0.012319	0	0
IQGAP1	8826	broad.mit.edu	37	15	90976974	90976974	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:90976974T>C	ENST00000268182.5	+	5	538	c.414T>C	c.(412-414)gaT>gaC	p.D138D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	138	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACTACAGATATCTATGATC	0.338000													22	62					0	0	0.003330	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796299	69796299	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:69796299T>G	ENST00000251566.4	-	5	1299	c.1269A>C	c.(1267-1269)ttA>ttC	p.L423F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L134F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	423						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCCTCAGTAAATCTTCGC	0.383000													13	71					0	0	0.001855	0	0
PDE12	201626	broad.mit.edu	37	3	57545080	57545080	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:57545080G>A	ENST00000311180.8	+	2	1455	c.1352G>A	c.(1351-1353)tGt>tAt	p.C451Y	PDE12_ENST00000487257.1_Missense_Mutation_p.C451Y	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	451							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AAAAGGATATGTGTTGCTAAT	0.358000													13	67					0	0	0.001855	0	0
RLN2	6019	broad.mit.edu	37	9	5304391	5304391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:5304391G>A	ENST00000381627.3	-	1	578	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	RLN2_ENST00000308420.3_Nonsense_Mutation_p.Q64*	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	64					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGGTGTCTGAGGAGCATCT	0.597000													6	7					0	0	0.001168	0	0
BOC	91653	broad.mit.edu	37	3	113003353	113003353	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:113003353C>T	ENST00000495514.1	+	17	3529	c.2825C>T	c.(2824-2826)tCg>tTg	p.S942L	BOC_ENST00000355385.3_Missense_Mutation_p.S942L|BOC_ENST00000273395.4_Missense_Mutation_p.S943L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	942					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCTGCCCCTCGGCTGCAGTG	0.647000													43	37					0	0	0.009718	0	0
BRD7	29117	broad.mit.edu	37	16	50359717	50359717	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:50359717C>T	ENST00000394688.3	-	11	1432	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	BRD7_ENST00000394689.2_Missense_Mutation_p.D425N			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	425					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAATCAGAATCATCCTTGCTG	0.338000													8	32					0	0	0.003080	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588228	61588228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:61588228G>A	ENST00000370349.3	+	3	357	c.153G>A	c.(151-153)tgG>tgA	p.W51*	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Nonsense_Mutation_p.W57*			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	57					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTTCGGCTGGAACAAGAAGG	0.632000													9	32					0	0	0.006214	0	0
SCN1A	6323	broad.mit.edu	37	2	166900510	166900510	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:166900510C>T	ENST00000423058.2	-	11	1729	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	SCN1A_ENST00000375405.3_Missense_Mutation_p.R571K|SCN1A_ENST00000409050.1_Missense_Mutation_p.R571K|SCN1A_ENST00000303395.4_Missense_Mutation_p.R571K|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	571						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R571I(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGCTTGTTCTGCTATTTCG	0.438000													25	50					0	0	0.004656	0	0
PHB	5245	broad.mit.edu	37	17	47486813	47486813	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:47486813T>C	ENST00000300408.3	-	4	345	c.273A>G	c.(271-273)acA>acG	p.T91T	PHB_ENST00000511832.1_Silent_p.T91T|PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	91					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GGATGCGCAGTGTGATGTTGA	0.453000													26	55					0	0	0.006320	0	0
CHPF	79586	broad.mit.edu	37	2	220406655	220406655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:220406655C>T	ENST00000243776.6	-	2	819	c.571G>A	c.(571-573)Gac>Aac	p.D191N	CHPF_ENST00000535926.1_Missense_Mutation_p.D29N|CHPF_ENST00000373891.2_Missense_Mutation_p.D191N	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	191						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGTCAAAGTCGTCGCCGTGC	0.687000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.013537	0	0
POFUT2	23275	broad.mit.edu	37	21	46685469	46685469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:46685469C>T	ENST00000349485.5	-	9	1244	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	406					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGTTGTACGTCGTCTTGGGGT	0.527000													14	55					0	0	0.002450	0	0
RICTOR	253260	broad.mit.edu	37	5	38963033	38963033	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:38963033G>C	ENST00000357387.3	-	17	1541	c.1511C>G	c.(1510-1512)aCa>aGa	p.T504R	RICTOR_ENST00000296782.5_Missense_Mutation_p.T504R	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	504					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTTCTGGTGTGTTGCAATTGC	0.368000													21	33					0	0	0.014323	0	0
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:56774148G>A	ENST00000337432.4	+	3	570	c.499G>A	c.(499-501)Gat>Aat	p.D167N	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.D167N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	167					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				29	42					0	0	0.008361	0	0
MID1	4281	broad.mit.edu	37	X	10535150	10535150	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:10535150C>T	ENST00000317552.4	-	2	838	c.438G>A	c.(436-438)ctG>ctA	p.L146L	MID1_ENST00000453318.2_Silent_p.L146L|MID1_ENST00000380782.2_Silent_p.L146L|MID1_ENST00000380785.1_Silent_p.L146L|MID1_ENST00000380787.1_Silent_p.L146L|MID1_ENST00000380779.1_Silent_p.L146L|MID1_ENST00000380780.1_Silent_p.L146L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	146					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAGTGGCTTTCAGGCACTCGT	0.552000													38	24					0	0	0.004289	0	0
ZMYM2	7750	broad.mit.edu	37	13	20633593	20633593	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20633593C>T	ENST00000382869.3	+	16	2881	c.2630C>T	c.(2629-2631)aCt>aTt	p.T877I	ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382874.2_Missense_Mutation_p.T877I|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T877I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTAGATGATACTTGGAGGACA	0.338000													12	28					0	0	0.013537	0	0
ATHL1	80162	broad.mit.edu	37	11	294604	294604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:294604C>T	ENST00000409548.2	+	14	2184	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	ATHL1_ENST00000409655.1_Missense_Mutation_p.P442L|ATHL1_ENST00000409479.1_Missense_Mutation_p.P717L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	690					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAATGTCACCCCCGAAGCTG	0.642000													27	124					0	0	0.003954	0	0
H1FNT	341567	broad.mit.edu	37	12	48723371	48723371	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:48723371G>A	ENST00000335017.1	+	1	609	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	99					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCCACGAAGCGCCCAGGGGGC	0.667000													17	19					0	0	0.002780	0	0
CENPT	80152	broad.mit.edu	37	16	67865747	67865747	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:67865747G>C	ENST00000562787.1	-	8	981	c.433C>G	c.(433-435)Cca>Gca	p.P145A	CENPT_ENST00000445712.2_Missense_Mutation_p.P42A|CENPT_ENST00000219172.3_Missense_Mutation_p.P145A|CENPT_ENST00000564817.1_Missense_Mutation_p.P145A|CENPT_ENST00000440851.2_Missense_Mutation_p.P145A|CENPT_ENST00000562947.1_5'UTR	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	145					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCAGACCTGGAGCCAGGGTT	0.582000													12	31					0	0	0.010729	0	0
DNTT	1791	broad.mit.edu	37	10	98079103	98079103	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:98079103T>C	ENST00000419175.1	+	3	633	c.463T>C	c.(463-465)Tgt>Cgt	p.C155R	DNTT_ENST00000371174.2_Missense_Mutation_p.C155R	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	155	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCAGTATGCGTGTCAGAGAAG	0.458000													31	120					0	0	0.003271	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848387	48848387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:48848387C>T	ENST00000394754.1	+	5	2431	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	GTF2A1L_ENST00000430487.2_Nonsense_Mutation_p.Q35*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.Q773*|GTF2A1L_ENST00000403751.3_Nonsense_Mutation_p.Q69*|GTF2A1L_ENST00000468326.1_3'UTR|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.Q773*	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		773					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTACTCTTCAGTTGCCGCA	0.408000													15	27					0	0	0.003163	0	0
TYW1B	441250	broad.mit.edu	37	7	72277753	72277753	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:72277753C>T	ENST00000438904.2	-	0	727				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCCTTTCTTGCAGTGGCCGCC	0.517000													8	20					0	0	0.003080	0	0
CACNA1C	775	broad.mit.edu	37	12	2795357	2795357	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:2795357A>G	ENST00000399655.1	+	45	5971	c.5706A>G	c.(5704-5706)gaA>gaG	p.E1902E	CACNA1C_ENST00000327702.7_Silent_p.E1937E|CACNA1C_ENST00000399634.1_Silent_p.E1973E|CACNA1C_ENST00000399601.1_Silent_p.E1902E|CACNA1C_ENST00000399621.1_Silent_p.E1921E|CACNA1C_ENST00000399617.1_Silent_p.E1937E|CACNA1C_ENST00000399644.1_Silent_p.E1902E|CACNA1C_ENST00000399649.1_Silent_p.E1908E|CACNA1C_ENST00000399637.1_Silent_p.E1921E|CACNA1C_ENST00000399606.1_Silent_p.E1922E|CACNA1C_ENST00000399595.1_Silent_p.E1910E|CACNA1C_ENST00000347598.4_Silent_p.E1950E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.E1902E|CACNA1C_ENST00000344100.3_Silent_p.E1943E|CACNA1C_ENST00000399603.1_Silent_p.E1902E|CACNA1C_ENST00000399638.1_Silent_p.E1930E|CACNA1C_ENST00000399591.1_Silent_p.E1910E|CACNA1C_ENST00000402845.3_Silent_p.E1921E|CACNA1C_ENST00000399629.1_Silent_p.E1919E|CACNA1C_ENST00000399597.1_Silent_p.E1902E|CACNA1C_ENST00000406454.3_Silent_p.E1973E|CACNA1C_ENST00000335762.5_Silent_p.E1927E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1985					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCACCTGGAATGTCTGAAGC	0.562000													25	81					0	0	0.004656	0	0
RBM5	10181	broad.mit.edu	37	3	50145531	50145531	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50145531A>G	ENST00000347869.3	+	13	1245	c.1070A>G	c.(1069-1071)gAc>gGc	p.D357G	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	357	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGTGTTGACTACAGTTAT	0.403000													19	28					0	0	0.012319	0	0
NOX5	79400	broad.mit.edu	37	15	69327745	69327745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:69327745C>T	ENST00000260364.5	+	7	1154	c.853C>T	c.(853-855)Caa>Taa	p.Q285*	NOX5_ENST00000388866.3_Nonsense_Mutation_p.Q303*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.Q268*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Q257*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Q275*			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	303					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGGCTGGCTCAAGTCCTACC	0.612000													12	34					0	0	0.010729	0	0
P2RX6	9127	broad.mit.edu	37	22	21380552	21380552	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:21380552C>T	ENST00000413302.2	+	11	1210	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	P2RX6_ENST00000443995.3_Silent_p.F301F|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000401443.1_Silent_p.F328F|P2RX6_ENST00000336296.2_Silent_p.F344F			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TCACCTTTTTCTGTGACCTGC	0.582000													6	7					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	31947824	31947824	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:31947824G>C	ENST00000357033.4	-	47	7007	c.6801C>G	c.(6799-6801)ctC>ctG	p.L2267L	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Silent_p.L2263L|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2267					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAATTGTTTGAGAATTCCCT	0.423000													21	31					0	0	0.012319	0	0
USP47	55031	broad.mit.edu	37	11	11971470	11971470	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:11971470A>G	ENST00000339865.5	+	22	3942	c.3179A>G	c.(3178-3180)aAa>aGa	p.K1060R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.K1148R|USP47_ENST00000527733.1_Missense_Mutation_p.K1128R	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GTGTTTGCTAAAGGAATGACT	0.343000													11	29					0	0	0.010729	0	0
CSMD3	114788	broad.mit.edu	37	8	113308174	113308174	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:113308174T>C	ENST00000297405.5	-	54	8746	c.8502A>G	c.(8500-8502)ggA>ggG	p.G2834G	CSMD3_ENST00000455883.2_Silent_p.G2665G|CSMD3_ENST00000343508.3_Silent_p.G2794G|CSMD3_ENST00000352409.3_Silent_p.G2764G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2834	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCTCTATATCCATAATTTT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	45					0	0	0.010729	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147869	82147869	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:82147869A>G	ENST00000550584.2	-	2	427	c.132T>C	c.(130-132)cgT>cgC	p.R44R	PPFIA2_ENST00000549396.1_Silent_p.R44R|PPFIA2_ENST00000333447.7_Silent_p.R44R|PPFIA2_ENST00000549325.1_Silent_p.R44R|PPFIA2_ENST00000552948.1_Silent_p.R44R|PPFIA2_ENST00000548586.1_Silent_p.R44R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	303										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCTAGAAGACGATCCCTTT	0.527000													4	25					0	0	0.009096	0	0
LRRN4	164312	broad.mit.edu	37	20	6025248	6025248	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:6025248G>C	ENST00000378858.4	-	4	1163	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	313						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AACTGCAAGTGAGGGGGTTGC	0.483000													5	14					0	0	0.000602	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603636	28603636	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:28603636G>A	ENST00000533150.1	-	3	1740	c.624C>T	c.(622-624)acC>acT	p.T208T	SULT1A2_ENST00000335715.4_Silent_p.T241T|SULT1A2_ENST00000395630.1_Silent_p.T241T			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	241					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GGCGGACGGTGGTGTAGTTGG	0.592000													26	121					0	0	0.005443	0	0
IL17REL	400935	broad.mit.edu	37	22	50436125	50436125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50436125C>T	ENST00000389983.2	-	12	1130	c.866G>A	c.(865-867)cGt>cAt	p.R289H	IL17REL_ENST00000341280.5_Missense_Mutation_p.R289H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	289										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGAAGCGACGCTGTTCGAA	0.572000													13	49					0	0	0.003163	0	0
CNGB1	1258	broad.mit.edu	37	16	57918175	57918175	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:57918175C>T	ENST00000564448.1	-	33	3691	c.3631G>A	c.(3631-3633)Gag>Aag	p.E1211K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E1217K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1217					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTTCGGGCTCGGCCGGCCCC	0.726000													34	28					0	0	0.003271	0	0
LAMB1	3912	broad.mit.edu	37	7	107594021	107594021	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:107594021G>A	ENST00000393561.1	-	20	3289	c.3105C>T	c.(3103-3105)ttC>ttT	p.F1035F	LAMB1_ENST00000222399.6_Silent_p.F1011F			P07942	LAMB1_HUMAN	laminin, beta 1	1011	Laminin EGF-like 11.				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)	CAAACCGGCAGAACTGACAGT	0.493000													47	36					0	0	0.014410	0	0
SLC8A3	6547	broad.mit.edu	37	14	70513028	70513028	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:70513028C>G	ENST00000381269.2	-	8	3173	c.2420G>C	c.(2419-2421)aGc>aCc	p.S807T	SLC8A3_ENST00000356921.2_Missense_Mutation_p.S801T|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S805T|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S804T|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S805T|SLC8A3_ENST00000216568.7_Missense_Mutation_p.S178T|SLC8A3_ENST00000394330.2_Missense_Mutation_p.S164T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	807					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCAGCTTTGCTGGCAAACGT	0.557000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	0.003080	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228775	57228775	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:57228775G>A	ENST00000396721.2	-	2	262	c.132C>T	c.(130-132)ctC>ctT	p.L44L	SDR16C5_ENST00000522671.1_Silent_p.L44L|SDR16C5_ENST00000303749.3_Silent_p.L44L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	44					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CACCTGTGATGAGGACTATTT	0.468000													7	41					0	0	0.001984	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381161	6381161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:6381161C>T	ENST00000394456.5	-	10	1528	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S270N	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	355					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGAGGCCTCGCTGTCAATGTC	0.677000													7	7					0	0	0.003080	0	0
UBE3B	89910	broad.mit.edu	37	12	109935646	109935646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109935646C>T	ENST00000342494.3	+	10	1332	c.737C>T	c.(736-738)tCa>tTa	p.S246L	UBE3B_ENST00000434735.2_Missense_Mutation_p.S246L|UBE3B_ENST00000280774.5_Missense_Mutation_p.S246L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	246					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCACAGTTCTCAGACAATCTG	0.527000													32	90					0	0	0.010818	0	0
CARD10	29775	broad.mit.edu	37	22	37887821	37887821	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:37887821G>C	ENST00000403299.1	-	20	3021	c.2805C>G	c.(2803-2805)aaC>aaG	p.N935K	CARD10_ENST00000406271.3_Missense_Mutation_p.N649K|CARD10_ENST00000251973.5_Missense_Mutation_p.N935K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	935					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGTAGATCTCGTTCTGCACCA	0.617000													7	55					0	0	0.006214	0	0
NPY1R	4886	broad.mit.edu	37	4	164246583	164246583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:164246583G>C	ENST00000296533.2	-	3	1558	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	NPY1R_ENST00000509586.1_Missense_Mutation_p.R100G	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R343W(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393000													20	54					0	0	0.007413	0	0
TONSL	4796	broad.mit.edu	37	8	145659460	145659460	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145659460G>A	ENST00000409379.3	-	21	3317	c.3288C>T	c.(3286-3288)acC>acT	p.T1096T		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1096					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTGGGCATGGTGCCCAGGG	0.687000													30	21					0	0	0.013726	0	0
DNAH10	196385	broad.mit.edu	37	12	124326021	124326021	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:124326021G>A	ENST00000409039.3	+	29	4960	c.4935G>A	c.(4933-4935)ttG>ttA	p.L1645L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1645	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		CGGCAGTTTTGAATGAGATGA	0.468000													33	52					0	0	0.013726	0	0
GRN	2896	broad.mit.edu	37	17	42427117	42427117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:42427117C>G	ENST00000053867.3	+	4	409	c.347C>G	c.(346-348)tCa>tGa	p.S116*	GRN_ENST00000589265.1_Nonsense_Mutation_p.S116*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	116					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAAAGATCAGGTGCAGCT	0.652000													3	20					0	0	0.004672	0	0
POTEA	340441	broad.mit.edu	37	8	43152200	43152200	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:43152200G>A	ENST00000522175.2	+	0	339							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGCAATTCAGAAGTAGTAAG	0.408000													14	74					0	0	0.001855	0	0
OTOGL	283310	broad.mit.edu	37	12	80615964	80615964	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:80615964G>A	ENST00000458043.2	+	6	407	c.401G>A	c.(400-402)gGa>gAa	p.G134E	OTOGL_ENST00000547103.1_Missense_Mutation_p.G134E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACTTCCCAGGAAACTGTTCT	0.398000													21	32					0	0	0.010504	0	0
UTRN	7402	broad.mit.edu	37	6	144898326	144898326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:144898326G>A	ENST00000367545.3	+	50	7381	c.7381G>A	c.(7381-7383)Gaa>Aaa	p.E2461K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2461					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTGGATCCAAGAAGCAGAGAC	0.512000													22	20					0	0	0.014323	0	0
EIF3B	8662	broad.mit.edu	37	7	2400441	2400441	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:2400441G>A	ENST00000360876.4	+	2	652	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	EIF3B_ENST00000397011.2_Missense_Mutation_p.R199Q	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	199	RRM.|Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGACCCGACCGACTTGAGAAA	0.443000													22	45					0	0	0.012319	0	0
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:130027210G>A	ENST00000373387.4	+	1	406	c.54G>A	c.(52-54)ctG>ctA	p.L18L	GARNL3_ENST00000314904.5_Silent_p.L18L|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTATAATACTGATGAAGCATT	0.453000													23	29					0	0	0.002780	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32632653	32632653	+	Missense_Mutation	SNP	C	C	T	rs41556424		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32632653C>T	ENST00000399084.1	-	3	479	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.E101K|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.E101K|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.E101K			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	101	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGGTCCCCTCCAGGACTTCC	0.672000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				3	3					0	0	0.008291	0	0
USP24	23358	broad.mit.edu	37	1	55566515	55566515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:55566515C>T	ENST00000294383.6	-	44	5267	c.5268G>A	c.(5266-5268)tgG>tgA	p.W1756*	USP24_ENST00000407756.1_Nonsense_Mutation_p.W1596*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1756					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAATACCTTCCAAAAATTCT	0.338000													7	19					0	0	0.001984	0	0
OR6C1	390321	broad.mit.edu	37	12	55714720	55714720	+	Silent	SNP	C	C	T	rs149008799		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55714720C>T	ENST00000379668.2	+	1	375	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTTTACCTTCTGGCTGCCAT	0.403000													11	28					0	0	0.008291	0	0
SPEN	23013	broad.mit.edu	37	1	16265833	16265833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16265833G>A	ENST00000375759.3	+	15	11110	c.10906G>A	c.(10906-10908)Gag>Aag	p.E3636K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCT	0.582000													75	156					0	0	0.014410	0	0
DUSP8	1850	broad.mit.edu	37	11	1586951	1586951	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:1586951C>T	ENST00000397374.3	-	2	233	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	DUSP8_ENST00000331588.4_Missense_Mutation_p.V36M	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	36	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TTGTACTCCACGAAGGAGCGG	0.657000													15	102					0	0	0.004007	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827975	28827975	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:28827975T>C	ENST00000397358.3	+	4	1143	c.439T>C	c.(439-441)Tac>Cac	p.Y147H	HMBOX1_ENST00000403668.2_Missense_Mutation_p.Y147H|HMBOX1_ENST00000287701.10_Missense_Mutation_p.Y147H|HMBOX1_ENST00000558662.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000355231.5_Missense_Mutation_p.Y147H|HMBOX1_ENST00000519047.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000524238.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000523613.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000444075.1_Missense_Mutation_p.Y147H	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	147					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TCAGAGGTCATACAGTTTTGA	0.403000													5	46					0	0	0.001168	0	0
COBLL1	22837	broad.mit.edu	37	2	165586561	165586561	+	Missense_Mutation	SNP	T	T	C	rs146685683		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:165586561T>C	ENST00000375458.2	-	3	516	c.295A>G	c.(295-297)Aca>Gca	p.T99A	COBLL1_ENST00000392717.2_Missense_Mutation_p.T137A|COBLL1_ENST00000409184.3_Missense_Mutation_p.T137A|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000194871.6_Missense_Mutation_p.T152A|COBLL1_ENST00000342193.4_Missense_Mutation_p.T99A	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	137										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATCGATTGTGTAACTTGAT	0.343000													20	40					0	0	0.010504	0	0
MYO18A	399687	broad.mit.edu	37	17	27493277	27493277	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:27493277T>C	ENST00000527372.1	-	2	862	c.682A>G	c.(682-684)Act>Gct	p.T228A	MYO18A_ENST00000533112.1_Missense_Mutation_p.T228A|MYO18A_ENST00000531253.1_Missense_Mutation_p.T228A|MYO18A_ENST00000354329.4_Missense_Mutation_p.T228A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	228	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGTCTCCAGTGGGCCGTCGT	0.667000													32	56					0	0	0.013726	0	0
RAP2B	5912	broad.mit.edu	37	3	152880938	152880938	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:152880938G>A	ENST00000323534.2	+	1	910	c.456G>A	c.(454-456)tcG>tcA	p.S152S		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	152					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACAAAGCCTCGGTAGACGAGC	0.642000													5	9					0	0	0.000602	0	0
SYT7	9066	broad.mit.edu	37	11	61318925	61318925	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61318925T>C	ENST00000263846.4	-	3	473	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SYT7_ENST00000539008.1_Missense_Mutation_p.Y49C|SYT7_ENST00000542836.1_Missense_Mutation_p.Y49C|SYT7_ENST00000535826.1_Missense_Mutation_p.Y49C|SYT7_ENST00000542670.1_Missense_Mutation_p.Y49C|SYT7_ENST00000540677.1_Missense_Mutation_p.Y49C	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	49						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGAATTCTTGTAGCGTTTGCC	0.587000													12	63					0	0	0.001855	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216209	131216209	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:131216209G>C	ENST00000337057.3	-	9	1468	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	EPB41L2_ENST00000528282.1_Silent_p.L429L|EPB41L2_ENST00000527411.1_Silent_p.L429L|EPB41L2_ENST00000368128.2_Silent_p.L429L|EPB41L2_ENST00000445890.2_Silent_p.L429L|EPB41L2_ENST00000525271.1_Silent_p.L429L|EPB41L2_ENST00000392427.3_Silent_p.L429L|EPB41L2_ENST00000530481.1_Silent_p.L429L|EPB41L2_ENST00000527659.1_Silent_p.L429L|EPB41L2_ENST00000529208.1_Silent_p.L429L|EPB41L2_ENST00000525193.1_Silent_p.L429L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	429	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTTGTAAATGAGAAGTCCAT	0.423000													49	34					0	0	0.014410	0	0
DHX30	22907	broad.mit.edu	37	3	47883135	47883135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:47883135G>A	ENST00000446256.2	+	9	1152	c.580G>A	c.(580-582)Gac>Aac	p.D194N	DHX30_ENST00000457607.1_Missense_Mutation_p.D261N|DHX30_ENST00000348968.4_Missense_Mutation_p.D205N|DHX30_ENST00000445061.1_Missense_Mutation_p.D233N	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	233	Poly-Glu.					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)		GACAGATGACGACAGTGCCAT	0.493000													30	54					0	0	0.006320	0	0
MAML1	9794	broad.mit.edu	37	5	179195951	179195951	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:179195951A>G	ENST00000292599.3	+	3	2095	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	611					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCCCCCTATCTCAGCAGC	0.572000													55	83					0	0	0.014410	0	0
C9orf3	84909	broad.mit.edu	37	9	97844946	97844946	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:97844946G>A	ENST00000375315.2	+	15	2409	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	C9orf3_ENST00000425634.2_Silent_p.K165K|C9orf3_ENST00000297979.5_Silent_p.K704K|C9orf3_ENST00000433691.2_Silent_p.K144K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	803					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCGGACCAAGGAGCAGATGG	0.547000													32	26					0	0	0.013726	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848655	72848655	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:72848655G>A	ENST00000293190.5	-	3	641	c.495C>T	c.(493-495)ttC>ttT	p.F165F	GRIN2C_ENST00000347612.4_Silent_p.F165F|GRIN2C_ENST00000578159.1_5'UTR	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	165					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGATGACGGCGAAGGCGCTCC	0.701000													6	17					0	0	0.004482	0	0
SCG2	7857	broad.mit.edu	37	2	224463114	224463114	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224463114C>T	ENST00000305409.2	-	2	1119	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	296					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.R296L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACTCTCTTTCCGAAGATCTTC	0.418000													18	136					0	0	0.006122	0	0
NPC1	4864	broad.mit.edu	37	18	21148963	21148963	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:21148963C>T	ENST00000269228.5	-	4	842		c.e4-1		NPC1_ENST00000540608.1_Splice_Site	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGATGGACATCTAAAGGAAAA	0.338000													6	16					0	0	0.003080	0	0
MYOF	26509	broad.mit.edu	37	10	95113570	95113570	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:95113570G>A	ENST00000371501.4	-	32	3601	c.3479C>T	c.(3478-3480)tCa>tTa	p.S1160L	MYOF_ENST00000371502.4_Missense_Mutation_p.S1160L|MYOF_ENST00000359263.4_Missense_Mutation_p.S1160L|MYOF_ENST00000358334.5_Missense_Mutation_p.S1147L			Q9NZM1	MYOF_HUMAN	myoferlin	1160	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCTTTACCTGAAAAGCTATC	0.353000													24	77					0	0	0.005443	0	0
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:160033923C>G	ENST00000327245.5	-	19	3855	c.3009G>C	c.(3007-3009)ttG>ttC	p.L1003F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512000													12	88					0	0	0.002450	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003930	75003930	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:75003930G>A	ENST00000373359.2	-	1	1149	c.957C>T	c.(955-957)gtC>gtT	p.V319V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	319	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGCCAACTGGACCAAATCAT	0.453000													18	35					0	0	0.012319	0	0
C8B	732	broad.mit.edu	37	1	57399040	57399040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57399040G>A	ENST00000543257.1	-	11	1930	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	C8B_ENST00000371237.4_Missense_Mutation_p.P507L|C8B_ENST00000535057.1_Missense_Mutation_p.P445L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	507	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTTGGCAGGGAGCACAGTG	0.552000													26	46					0	0	0.006320	0	0
SNX19	399979	broad.mit.edu	37	11	130773221	130773221	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:130773221T>C	ENST00000265909.4	-	8	3071	c.2502A>G	c.(2500-2502)gaA>gaG	p.E834E	SNX19_ENST00000534726.1_Silent_p.E74E|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Silent_p.E214E|SNX19_ENST00000545537.1_Silent_p.E74E|SNX19_ENST00000539184.1_Silent_p.E277E|SNX19_ENST00000528555.1_Silent_p.E214E	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	834					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATTTCCACTGTTCTGTTAGTA	0.453000													18	24					0	0	0.004990	0	0
ABCC5	10057	broad.mit.edu	37	3	183665178	183665178	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:183665178C>T	ENST00000334444.6	-	23	3588	c.3348G>A	c.(3346-3348)atG>atA	p.M1116I	ABCC5_ENST00000265586.6_Missense_Mutation_p.M1073I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1116	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAGAACGATCATCAGCCCCG	0.552000													16	23					0	0	0.004990	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535631	166535631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:166535631G>C	ENST00000314499.7	+	7	1502	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	CSRNP3_ENST00000409420.1_Missense_Mutation_p.E408Q|CSRNP3_ENST00000342316.4_Missense_Mutation_p.E376Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	376	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ggaggaggaagaagaagagga	0.537000													17	38					0	0	0.004007	0	0
MAN2B1	4125	broad.mit.edu	37	19	12758381	12758381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:12758381G>A	ENST00000456935.2	-	22	2736	c.2696C>T	c.(2695-2697)tCg>tTg	p.S899L	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S898L|CTD-2192J16.22_ENST00000597692.1_Silent_p.L85L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGTGCACCGAGGGCGGCAG	0.692000													27	23					0	0	0.007291	0	0
TMED4	222068	broad.mit.edu	37	7	44620691	44620691	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:44620691C>T	ENST00000481238.1	-	4	559	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TMED4_ENST00000289577.5_Intron|TMED4_ENST00000444131.2_Intron|TMED4_ENST00000457408.2_Splice_Site			Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	0					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATGCACTTGCCCTTTGGTAA	0.483000													17	43					0	0	0.007413	0	0
RAD52	5893	broad.mit.edu	37	12	1025884	1025884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:1025884G>A	ENST00000358495.3	-	8	784	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	RAD52_ENST00000430095.2_Missense_Mutation_p.H216Y|RAD52_ENST00000539046.1_Missense_Mutation_p.H139Y|RAD52_ENST00000536177.1_Missense_Mutation_p.H216Y	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	216					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGCTGTGGGTGTCCCAGGGCC	0.582000								Homologous recombination					13	42					0	0	0.001855	0	0
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000444676.1_Silent_p.F832F|OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000543843.1_Silent_p.F768F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	817					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AAGCCAACTTCGACATCAATC	0.542000													39	69					0	0	0.007835	0	0
CAD	790	broad.mit.edu	37	2	27449800	27449800	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27449800A>G	ENST00000264705.4	+	15	2419	c.2257A>G	c.(2257-2259)Aca>Gca	p.T753A	CAD_ENST00000403525.1_Missense_Mutation_p.T690A	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	753	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGAGTCAGCACAAAGATTGG	0.532000													44	97					0	0	0.014410	0	0
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32815407G>A	ENST00000354258.4	-	9	2127	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.Q395*|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	656	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATATTTTCTTGAAGACTTCTT	0.468000													17	25					0	0	0.006122	0	0
AGT	183	broad.mit.edu	37	1	230839024	230839024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:230839024C>T	ENST00000366667.4	-	5	1535	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	441					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGGTAGACTCTGTGGGCTCT	0.527000													32	71					0	0	0.013726	0	0
TENM3	55714	broad.mit.edu	37	4	183267957	183267957	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:183267957A>G	ENST00000511685.1	+	3	509	c.386A>G	c.(385-387)gAg>gGg	p.E129G	TENM3_ENST00000406950.2_Missense_Mutation_p.E129G					teneurin transmembrane protein 3																		ATGTCCCCAGAGCATGCCATG	0.557000													7	6					0	0	0.001984	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685459	50685459	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50685459G>A	ENST00000446044.1	+	13	1727	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q	MAPKAPK3_ENST00000357955.2_Silent_p.Q377Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	377					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGCCTCACAGGGCTGCAACA	0.572000													11	43					0	0	0.008291	0	0
BMPR2	659	broad.mit.edu	37	2	203420156	203420156	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:203420156G>A	ENST00000374580.4	+	12	2307	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	590					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATTAACTATGAACGACAGCA	0.463000													24	40					0	0	0.014323	0	0
SUPT20H	55578	broad.mit.edu	37	13	37603934	37603934	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:37603934C>T	ENST00000360252.4	-	13	1211	c.964G>A	c.(964-966)Gat>Aat	p.D322N	SUPT20H_ENST00000350612.6_Missense_Mutation_p.D321N|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D321N|SUPT20H_ENST00000464744.1_Missense_Mutation_p.D322N|SUPT20H_ENST00000356185.3_Missense_Mutation_p.D322N|SUPT20H_ENST00000542180.1_Intron	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGTGAGTCATCAGATTTGATA	0.348000													8	46					0	0	0.004482	0	0
NIP7	51388	broad.mit.edu	37	16	69375197	69375197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:69375197G>A	ENST00000254940.5	+	4	797	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Intron|RP11-343C2.7_ENST00000564737.1_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	133	PUA.				ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGCGTGGTGGTGTACTCCAT	0.468000													12	23					0	0	0.001855	0	0
CKAP2	26586	broad.mit.edu	37	13	53035696	53035696	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:53035696A>G	ENST00000378037.5	+	4	828	c.738A>G	c.(736-738)acA>acG	p.T246T	CKAP2_ENST00000258607.5_Silent_p.T245T|CKAP2_ENST00000490903.1_Silent_p.T197T|CKAP2_ENST00000378034.3_Silent_p.T245T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	246					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TGAGCACTACATCTCAGAACA	0.423000													9	30					0	0	0.010729	0	0
TIMM44	10469	broad.mit.edu	37	19	7992108	7992108	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:7992108C>T	ENST00000270538.3	-	13	1591	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	441					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCGAGATGTCCAGGAGCCGCC	0.672000													19	21					0	0	0.007413	0	0
GALM	130589	broad.mit.edu	37	2	38958959	38958959	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:38958959G>A	ENST00000272252.5	+	6	1111	c.859G>A	c.(859-861)Gat>Aat	p.D287N	GALM_ENST00000410063.1_Missense_Mutation_p.D139N	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	287					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CAACTTCCTGGATGGCACATT	0.527000													31	66					0	0	0.010818	0	0
MYOM3	127294	broad.mit.edu	37	1	24383902	24383902	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:24383902G>A	ENST00000330966.7	-	37	4437	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	MYOM3_ENST00000338909.5_Silent_p.I315I|MYOM3_ENST00000374434.3_Silent_p.I1422I|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1422										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAACACACTGATGGTGACCT	0.562000													13	41					0	0	0.013537	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876750	39876750	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:39876750C>T	ENST00000530275.1	+	1	600	c.405C>T	c.(403-405)ttC>ttT	p.F135F	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	135										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGGCTTCAGTGAGAAGC	0.512000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	0.001984	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631954	62631954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:62631954G>A	ENST00000337910.5	-	10	2247	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S637L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TGCAGATTTTGATTTGATTTC	0.493000													23	72					0	0	0.014323	0	0
NCOA1	8648	broad.mit.edu	37	2	24905860	24905860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:24905860G>A	ENST00000405141.1	+	9	1106	c.395G>A	c.(394-396)aGa>aAa	p.R132K	NCOA1_ENST00000395856.3_Missense_Mutation_p.R132K|NCOA1_ENST00000348332.3_Missense_Mutation_p.R132K|NCOA1_ENST00000538539.1_Missense_Mutation_p.R132K|NCOA1_ENST00000406961.1_Missense_Mutation_p.R132K|NCOA1_ENST00000288599.5_Missense_Mutation_p.R132K|NCOA1_ENST00000407230.1_5'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	132	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAAGGGAGAATTGTATTT	0.368000			T	PAX3	alveolar rhadomyosarcoma								32	50					0	0	0.013726	0	0
DUSP16	80824	broad.mit.edu	37	12	12674023	12674023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:12674023C>T	ENST00000228862.2	-	2	641	c.10G>A	c.(10-12)Gag>Aag	p.E4K	DUSP16_ENST00000298573.4_Missense_Mutation_p.E4K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	4					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAATCATCTCATGGGCCATG	0.453000													11	17					0	0	0.010729	0	0
RPL32P3	132241	broad.mit.edu	37	3	129112028	129112028	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:129112028C>T	ENST00000514355.1	-	0	785																				lung(1)	1						TTGCCTGCTTCAGCCATGTGG	0.587000													11	9					0	0	0.008291	0	0
KMT2C	58508	broad.mit.edu	37	7	151945668	151945668	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:151945668T>C	ENST00000355193.2	-	14	2069	c.1851A>G	c.(1849-1851)aaA>aaG	p.K617K	KMT2C_ENST00000262189.6_Silent_p.K617K					lysine (K)-specific methyltransferase 2C																		TAGAAATCTGTTTTTCCAATT	0.308000													4	29					0	0	0.009096	0	0
SZT2	23334	broad.mit.edu	37	1	43913626	43913626	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:43913626G>A	ENST00000562955.1	+	67	9376	c.9376G>A	c.(9376-9378)Gag>Aag	p.E3126K	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.E2284K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3183						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGAGAGGCTGAGCGGCACGT	0.572000													38	49					0	0	0.004878	0	0
SAMD3	154075	broad.mit.edu	37	6	130465682	130465682	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:130465682G>T	ENST00000368134.2	-	14	2154	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	SAMD3_ENST00000457563.2_Missense_Mutation_p.Q540K|SAMD3_ENST00000437477.2_Missense_Mutation_p.Q516K|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q516K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	516										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGTGGGTGCTGAAATCCTACT	0.368000													9	26					3.07112e-06	3.22374e-06	0.010729	1	0
PPP1R15B	84919	broad.mit.edu	37	1	204379892	204379892	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:204379892G>A	ENST00000367188.4	-	1	1027	c.648C>T	c.(646-648)ttC>ttT	p.F216F	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	216					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATACCACACTGAAATTGTCTA	0.498000													42	93					0	0	0.008740	0	0
NDNL2	56160	broad.mit.edu	37	15	29561649	29561649	+	Silent	SNP	C	C	T	rs138846663		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:29561649C>T	ENST00000332303.4	-	1	384	c.261G>A	c.(259-261)ctG>ctA	p.L87L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	87	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGACACTTTCAGCTCCAGCT	0.667000											OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	11	53					0	0	0.013537	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284074	33284074	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:33284074T>C	ENST00000431845.2	-	2	771	c.620A>G	c.(619-621)aAc>aGc	p.N207S	ZBTB22_ENST00000418724.1_Missense_Mutation_p.N207S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTGAAGTAGTTGCTGCTGCT	0.627000													19	17					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179422796	179422796	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179422796A>G	ENST00000589042.1	-	328	87509	c.87285T>C	c.(87283-87285)atT>atC	p.I29095I	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Silent_p.I27454I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.I20155I|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.I26527I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.I20222I|TTN_ENST00000460472.2_Silent_p.I20030I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27454	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCAGCAGTAATTTCGGTAT	0.428000													37	80					0	0	0.006230	0	0
FAM114A1	92689	broad.mit.edu	37	4	38916603	38916603	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:38916603G>C	ENST00000358869.2	+	8	1030	c.854G>C	c.(853-855)aGa>aCa	p.R285T	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R78T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	285						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGATGGAGAGAACCGCGCAC	0.468000													13	21					0	0	0.002450	0	0
BMPR1B	658	broad.mit.edu	37	4	96045003	96045003	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:96045003C>T	ENST00000515059.1	+	7	675	c.392C>T	c.(391-393)tCt>tTt	p.S131F	BMPR1B_ENST00000394931.1_Missense_Mutation_p.S131F|BMPR1B_ENST00000440890.2_Missense_Mutation_p.S161F|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S131F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	131					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTACTTATATCTGTGACTGTC	0.294000													30	71					0	0	0.004289	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498946	73498946	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73498946C>G	ENST00000321617.3	-	18	2795	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E655Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	737	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCGCTCTGTGCCCTCT	0.657000													4	27					0	0	0.000602	0	0
OTOF	9381	broad.mit.edu	37	2	26703759	26703759	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:26703759C>G	ENST00000272371.2	-	15	1824	c.1698G>C	c.(1696-1698)cgG>cgC	p.R566R	OTOF_ENST00000403946.3_Silent_p.R566R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	566					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCGGGCCCGGAAGGACA	0.642000													25	41					0	0	0.003954	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135922246	135922246	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:135922246C>T	ENST00000264158.8	+	23	2732	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.L897L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Silent_p.L853L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	897						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTCACAAGCTGTTTGTGAA	0.493000													11	27					0	0	0.010729	0	0
KRT84	3890	broad.mit.edu	37	12	52777374	52777374	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:52777374T>C	ENST00000257951.3	-	2	821	c.755A>G	c.(754-756)aAg>aGg	p.K252R	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	252	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCACTCACTTCTTCTTGAA	0.582000													6	30					0	0	0.001168	0	0
PRB2	653247	broad.mit.edu	37	12	11548455	11548455	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:11548455C>G	ENST00000389362.4	-	1	44	c.9G>C	c.(7-9)ttG>ttC	p.L3F	PRB1_ENST00000546254.1_Missense_Mutation_p.L3F|PRB2_ENST00000545829.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACAGCAGAATCAACAGCATCT	0.512000													13	65					0	0	0.008871	0	0
C6orf222	389384	broad.mit.edu	37	6	36287385	36287385	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:36287385G>A	ENST00000437635.2	-	11	1848	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	557										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGGCGCCTGATCTGGAAGT	0.582000													19	34					0	0	0.012319	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823856	83823856	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:83823856A>C	ENST00000265362.4	-	1	361	c.47T>G	c.(46-48)cTt>cGt	p.L16R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L16R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTGCTGTAAGTAATACTCC	0.408000													25	77					0	0	0.007291	0	0
NUP133	55746	broad.mit.edu	37	1	229586277	229586277	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:229586277C>T	ENST00000261396.3	-	23	3266	c.3175G>A	c.(3175-3177)Gat>Aat	p.D1059N	NUP133_ENST00000485119.1_5'UTR|NUP133_ENST00000537506.1_Missense_Mutation_p.D1043N	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1059					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTACCTCATCAATATATTCC	0.308000													19	53					0	0	0.008871	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249906	3249906	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:3249906T>C	ENST00000389832.5	-	2	430	c.124A>G	c.(124-126)Aat>Gat	p.N42D	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.N41D			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGCCCCATTCCCCAGCAGC	0.642000													28	46					0	0	0.008361	0	0
AP3B2	8120	broad.mit.edu	37	15	83357579	83357579	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:83357579T>C	ENST00000261722.3	-	4	476	c.269A>G	c.(268-270)aAg>aGg	p.K90R	AP3B2_ENST00000561455.1_5'UTR|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Intron|AP3B2_ENST00000535359.1_Missense_Mutation_p.K90R|AP3B2_ENST00000542200.1_Missense_Mutation_p.K90R	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	90					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GACAAGCTTCTTCACCTTGGG	0.597000													3	6					0	0	0.009096	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960326	117960326	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:117960326G>A	ENST00000310164.2	+	4	1626	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TTGAGAATTTGATCATCACTC	0.502000													16	26					0	0	0.004990	0	0
VSX1	30813	broad.mit.edu	37	20	25059543	25059543	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:25059543G>T	ENST00000376709.4	-	3	812	c.549C>A	c.(547-549)ttC>ttA	p.F183L	VSX1_ENST00000444511.2_Missense_Mutation_p.F183L|VSX1_ENST00000451258.1_Missense_Mutation_p.F183L|VSX1_ENST00000376707.3_Missense_Mutation_p.F183L|VSX1_ENST00000429762.3_Missense_Mutation_p.F183L|VSX1_ENST00000424574.1_Missense_Mutation_p.F183L	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	183					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GGGCCTCGCTGAATGCCTTCT	0.567000													33	50					1.62565e-12	1.74883e-12	0.012213	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133949530	133949530	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:133949530C>T	ENST00000298622.4	+	5	1204	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCATGCTTTACGCCGAATGGA	0.527000													15	16					0	0	0.003163	0	0
YES1	7525	broad.mit.edu	37	18	724590	724590	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:724590T>C	ENST00000584307.1	-	12	1636	c.1466A>G	c.(1465-1467)tAc>tGc	p.Y489C	YES1_ENST00000577961.1_Missense_Mutation_p.Y494C|YES1_ENST00000314574.4_Missense_Mutation_p.Y489C			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	489	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CGGCATCCTGTATCCTCGCTC	0.413000													23	58					0	0	0.002780	0	0
LRFN5	145581	broad.mit.edu	37	14	42356687	42356687	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:42356687C>T	ENST00000554171.1	+	5	3291	c.859C>T	c.(859-861)Cct>Tct	p.P287S	LRFN5_ENST00000298119.4_Missense_Mutation_p.P287S|LRFN5_ENST00000554120.1_Missense_Mutation_p.P287S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	287	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGTGAGCCTCCTCTCATTAC	0.493000										HNSCC(30;0.082)			16	56					0	0	0.003163	0	0
KIRREL	55243	broad.mit.edu	37	1	158064161	158064161	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158064161G>A	ENST00000368172.1	+	10	1232	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	KIRREL_ENST00000359209.6_Missense_Mutation_p.R593Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R609Q|KIRREL_ENST00000416935.2_Missense_Mutation_p.R493Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R490Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R429Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	593	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATCGACACCCGGGAGGAGTAT	0.612000													4	19					0	0	0.009096	0	0
CCDC18	343099	broad.mit.edu	37	1	93646363	93646363	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:93646363C>T	ENST00000557479.1	+	1	444	c.276C>T	c.(274-276)gtC>gtT	p.V92V	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000334652.5_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGGAAAGGGTCAGAGGCTTCC	0.672000													12	52					0	0	0.001855	0	0
DIP2C	22982	broad.mit.edu	37	10	486827	486827	+	Silent	SNP	G	G	A	rs139321678	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:486827G>A	ENST00000280886.6	-	4	465	c.378C>T	c.(376-378)gaC>gaT	p.D126D	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Silent_p.D19D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	126						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTGTAGGCGTCCATCGAGG	0.607000													15	45					0	0	0.006122	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730558	140730558	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:140730558A>G	ENST00000523390.1	+	1	731	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGTATACAGGGTTAGC	0.567000													16	46					0	0	0.004007	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													4	25					0	0	0.009096	0	0
HTRA2	27429	broad.mit.edu	37	2	74757805	74757805	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:74757805G>A	ENST00000258080.3	+	2	1198	c.568G>A	c.(568-570)Gat>Aat	p.D190N	HTRA2_ENST00000352222.3_Missense_Mutation_p.D190N|HTRA2_ENST00000467961.1_3'UTR	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	190	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GGTGGCTGCCGATGGGCTCAT	0.592000													22	50					0	0	0.012319	0	0
AJUBA	84962	broad.mit.edu	37	14	23451348	23451348	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:23451348C>T	ENST00000262713.2	-	1	503	c.128G>A	c.(127-129)gGa>gAa	p.G43E	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.G43E	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	43	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTTCCTAGGTCCCCCCAACCC	0.677000													11	42					0	0	0.010729	0	0
DTNB	1838	broad.mit.edu	37	2	25851188	25851188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:25851188G>A	ENST00000406818.3	-	4	463	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	DTNB_ENST00000407661.3_Missense_Mutation_p.H72Y|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000496972.2_Missense_Mutation_p.H15Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H72Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H72Y|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.H72Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H72Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H72Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	72						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGTGGTATGGTCCAGTGTA	0.418000													12	34					0	0	0.010729	0	0
TRMT11	60487	broad.mit.edu	37	6	126320655	126320655	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:126320655A>G	ENST00000334379.5	+	7	696	c.575A>G	c.(574-576)cAc>cGc	p.H192R	TRMT11_ENST00000450358.1_Missense_Mutation_p.H192R|TRMT11_ENST00000368332.3_Missense_Mutation_p.H192R	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	192					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		AAAAAGAGACACTTTATTGGA	0.338000													32	16					0	0	0.010818	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571421	37571421	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:37571421C>T	ENST00000399151.3	+	3	277	c.192C>T	c.(190-192)agC>agT	p.S64S	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	64					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTCATCAGCAAAAGATTAG	0.458000													19	43					0	0	0.007413	0	0
TNKS2	80351	broad.mit.edu	37	10	93605573	93605573	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:93605573C>G	ENST00000371627.4	+	18	2613	c.2234C>G	c.(2233-2235)gCt>gGt	p.A745G		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	745					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GACAAATGGGCTTTCACACCT	0.433000													6	46					0	0	0.001168	0	0
PRKD1	5587	broad.mit.edu	37	14	30046445	30046445	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:30046445C>T	ENST00000331968.5	-	18	2967	c.2738G>A	c.(2737-2739)tGa>tAa	p.*913*	PRKD1_ENST00000415220.2_Silent_p.*921*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	0					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGATGGAACTCAGAGGATGCT	0.443000													19	46					0	0	0.010504	0	0
DMRT2	10655	broad.mit.edu	37	9	1057223	1057223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:1057223G>C	ENST00000382251.3	+	5	1965	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	DMRT2_ENST00000302441.6_Missense_Mutation_p.E546Q|DMRT2_ENST00000358146.2_Missense_Mutation_p.E546Q|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000382255.3_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	546					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATTTTCTGTTGAGTCTATTCT	0.393000													22	19					0	0	0.003330	0	0
EPHA6	285220	broad.mit.edu	37	3	96706689	96706689	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:96706689T>C	ENST00000389672.5	+	3	1004	c.966T>C	c.(964-966)tcT>tcC	p.S322S	EPHA6_ENST00000470610.2_Silent_p.S322S|EPHA6_ENST00000542517.1_Silent_p.S228S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	227						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCCTCCTCTTTGGTTGAAG	0.473000													56	128					0	0	0.014410	0	0
TRIL	9865	broad.mit.edu	37	7	28996568	28996568	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:28996568G>A	ENST00000322982.3	-	0	1366							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CTCGCAGCCGGCAGTCGCAGG	0.687000													4	10					0	0	0.009096	0	0
VPS26A	9559	broad.mit.edu	37	10	70930917	70930917	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70930917A>G	ENST00000373382.1	+	10	1529	c.876A>G	c.(874-876)atA>atG	p.I292M	VPS26A_ENST00000395098.1_Missense_Mutation_p.N245D|VPS26A_ENST00000546041.1_Missense_Mutation_p.I275M|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000541711.1_Missense_Mutation_p.I181M|VPS26A_ENST00000263559.6_Missense_Mutation_p.I292M|VPS26A_ENST00000489794.1_Missense_Mutation_p.N220D			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	292					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTAGGAGATAATTTTATGGA	0.338000													23	64					0	0	0.014323	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405056	130405056	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:130405056A>G	ENST00000356763.3	-	15	4031	c.3474T>C	c.(3472-3474)atT>atC	p.I1158I	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1158					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAGCTTACCAATGCAGAGCC	0.428000													25	25					0	0	0.005443	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:77745831G>T	ENST00000409088.3	-	3	1578	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409884.1_Silent_p.T388T	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													14	44					6.72482e-11	7.21648e-11	0.003163	1	0
LIG3	3980	broad.mit.edu	37	17	33325294	33325294	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:33325294G>A	ENST00000378526.4	+	13	2101	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	LIG3_ENST00000262327.5_Silent_p.G656G	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	656					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GATTGGAGGGGCTGGTGCTGA	0.562000								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	42					0	0	0.002450	0	0
ARID3C	138715	broad.mit.edu	37	9	34623620	34623620	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:34623620C>T	ENST00000378909.2	-	4	759	c.667G>A	c.(667-669)Gag>Aag	p.E223K		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGACGGCCCTCGCGCCGATTG	0.701000													10	8					0	0	0.006214	0	0
APRT	353	broad.mit.edu	37	16	88877971	88877971	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:88877971G>A	ENST00000378364.3	-	2	218	c.174C>T	c.(172-174)atC>atT	p.I58I	APRT_ENST00000563655.1_Silent_p.I58I|APRT_ENST00000426324.2_Silent_p.I58I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	58					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGATGTAGTCGATGCGGCCCC	0.721000													4	7					0	0	0.001168	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621938	39621938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:39621938C>T	ENST00000379600.3	+	7	1241	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	NHLRC3_ENST00000470258.1_Nonsense_Mutation_p.Q110*|NHLRC3_ENST00000379599.2_Nonsense_Mutation_p.Q240*	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	307						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACTAGCAGATCAAGTTTTGCC	0.468000													18	43					0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9057298	9057298	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:9057298C>T	ENST00000397910.4	-	3	30351	c.30148G>A	c.(30148-30150)Gtg>Atg	p.V10050M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10052	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGAAGTCACAGAAAAAGAG	0.463000													16	24					0	0	0.004007	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:168725897C>T	ENST00000392690.3	+	1	440	c.348C>T	c.(346-348)ttC>ttT	p.F116F	B3GALT1_ENST00000305861.1_Silent_p.F116F|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCACCCTGTTCCTCCTGGGCA	0.488000													18	33					0	0	0.008871	0	0
RDH10	157506	broad.mit.edu	37	8	74233221	74233221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:74233221G>A	ENST00000240285.5	+	4	1357	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RP11-434I12.2_ENST00000514599.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E62K|RP11-434I12.2_ENST00000517475.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	227					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTGAGCCATGAACTAAAGGC	0.443000													31	49					0	0	0.013726	0	0
HAL	3034	broad.mit.edu	37	12	96374496	96374496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:96374496G>C	ENST00000261208.3	-	17	1725	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V	HAL_ENST00000538703.1_Missense_Mutation_p.L453V|HAL_ENST00000541929.1_Missense_Mutation_p.L245V	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	453					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGTAGTCTAGGGCCTGAAAG	0.493000													20	72					0	0	0.005443	0	0
ETAA1	54465	broad.mit.edu	37	2	67630885	67630885	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:67630885G>A	ENST00000272342.5	+	5	1201	c.1071G>A	c.(1069-1071)gtG>gtA	p.V357V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	357						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATCATGTGTGACTTCCTGTA	0.353000													22	27					0	0	0.002780	0	0
TTLL12	23170	broad.mit.edu	37	22	43570524	43570524	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:43570524A>C	ENST00000216129.6	-	7	1078	c.1015T>G	c.(1015-1017)Tca>Gca	p.S339A	TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	339	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TTGAAGTGTGAGAAGTTGAAG	0.657000													28	46					0	0	0.010818	0	0
FAM84A	151354	broad.mit.edu	37	2	14774914	14774914	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:14774914C>T	ENST00000295092.2	+	2	1099	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	FAM84A_ENST00000331243.4_Missense_Mutation_p.R271C	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	271										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAGAAGCGCCGTATCGACGC	0.667000													5	30					0	0	0.001168	0	0
PAX4	5078	broad.mit.edu	37	7	127251629	127251629	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:127251629C>T	ENST00000338516.3	-	8	816	c.817G>A	c.(817-819)Gag>Aag	p.E273K	PAX4_ENST00000378740.2_Silent_p.L283L|PAX4_ENST00000341640.2_Silent_p.L283L|PAX4_ENST00000463946.1_Silent_p.L281L			O43316	PAX4_HUMAN	paired box 4	0					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGTGTCACTCAGACACCTTT	0.607000													20	105					0	0	0.008871	0	0
TTC9	23508	broad.mit.edu	37	14	71134362	71134362	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:71134362A>C	ENST00000256367.2	+	2	831	c.488A>C	c.(487-489)aAc>aCc	p.N163T		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	163							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GAAGGGGAGAACTTCAAGGCC	0.507000													17	48					0	0	0.004007	0	0
KIFC1	3833	broad.mit.edu	37	6	33371898	33371898	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:33371898G>A	ENST00000428849.2	+	6	1198	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	250					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCAACTAGAGGAGAAGGAGGT	0.572000													14	16					0	0	0.004007	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57467491	57467491	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:57467491G>A	ENST00000287169.3	+	12	3498	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	ZDHHC5_ENST00000527985.1_Silent_p.E659E	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	712						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCACCTATGAGATTTCGGTGT	0.647000													11	10					0	0	0.008291	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780363	24780363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24780363G>A	ENST00000528054.1	+	1	2203	c.586G>A	c.(586-588)Gac>Aac	p.D196N	LTB4R2_ENST00000543919.1_Missense_Mutation_p.D165N|CIDEB_ENST00000258807.5_5'UTR|CIDEB_ENST00000555817.1_Intron|LTB4R2_ENST00000533293.1_Missense_Mutation_p.D165N|CIDEB_ENST00000336557.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	196					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CCTGTGGAGGGACCGCGTATG	0.731000													6	15					0	0	0.001984	0	0
DDX60L	91351	broad.mit.edu	37	4	169296610	169296610	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:169296610C>T	ENST00000511577.1	-	34	4798	c.4551G>A	c.(4549-4551)atG>atA	p.M1517I	DDX60L_ENST00000260184.7_Missense_Mutation_p.M1517I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1517							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAAATCCTTCATTACTGCCA	0.408000													4	14					0	0	0.000602	0	0
ATG2A	23130	broad.mit.edu	37	11	64669497	64669497	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64669497G>A	ENST00000421419.2	-	29	4176	c.4062C>T	c.(4060-4062)ggC>ggT	p.G1354G	ATG2A_ENST00000377264.3_Silent_p.G1352G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1352							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGTCTCCATCGCCCTCCTCTT	0.627000													8	95					0	0	0.006214	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522807	45522807	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:45522807C>T	ENST00000291574.4	+	22	3670	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1165					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCAGGCTGTTCAAGTACCTCC	0.552000													41	75					0	0	0.014410	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921549	167921549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:167921549G>A	ENST00000357154.3	-	5	447	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.Q53*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.Q12*|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.Q101*	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	104					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGAGAATCTTGAGCAATGCAT	0.378000													19	33					0	0	0.010504	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036322	102036322	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:102036322A>G	ENST00000549145.1	+	10	855	c.755A>G	c.(754-756)aAg>aGg	p.K252R	MYBPC1_ENST00000452455.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K225R|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K213R|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K264R|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K220R|MYBPC1_ENST00000550270.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K140R|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K226R|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K264R|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K227R			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	239	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCATGCTCAAGCGACTCAAG	0.627000													14	26					0	0	0.001855	0	0
HMMR	3161	broad.mit.edu	37	5	162894721	162894721	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:162894721G>A	ENST00000393915.4	+	4	383	c.240G>A	c.(238-240)aaG>aaA	p.K80K	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000358715.3_Silent_p.K79K|HMMR_ENST00000432118.2_Intron	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	79						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AATCTCAAAAGAATGATAAAG	0.294000													3	19					0	0	0.004672	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241991	87241991	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:87241991G>A	ENST00000297524.3	-	1	619	c.516C>T	c.(514-516)agC>agT	p.S172S	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.S172S	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	172						integral to membrane	amino acid transmembrane transporter activity	p.S172S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGGAAATGAAGCTAAGTATGG	0.423000													30	35					0	0	0.013726	0	0
TDRD10	126668	broad.mit.edu	37	1	154493838	154493838	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:154493838A>G	ENST00000368482.4	+	6	1090	c.252A>G	c.(250-252)acA>acG	p.T84T	TDRD10_ENST00000368480.3_Silent_p.T84T	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	84	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAAAGTGACACTTGCAATCC	0.498000													48	127					0	0	0.014410	0	0
HRAS	3265	broad.mit.edu	37	11	534226	534226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:534226C>T	ENST00000417302.1	-	2	284	c.97G>A	c.(97-99)Gac>Aac	p.D33N	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.D33N|HRAS_ENST00000397596.2_Missense_Mutation_p.D33N|HRAS_ENST00000397594.1_Missense_Mutation_p.D33N|HRAS_ENST00000311189.7_Missense_Mutation_p.D33N	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	33					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	ATAGTGGGGTCGTATTCGTCC	0.637000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			13	25					0	0	0.013537	0	0
LGR5	8549	broad.mit.edu	37	12	71833861	71833861	+	Translation_Start_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:71833861A>G	ENST00000266674.5	+	1	312	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TSPAN8_ENST00000393330.2_Intron|LGR5_ENST00000540815.2_Start_Codon_SNP_p.M1V|LGR5_ENST00000536515.1_Start_Codon_SNP_p.M1V			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	1						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCGGGCACCATGGACACCTC	0.721000													28	38					0	0	0.007291	0	0
PC	5091	broad.mit.edu	37	11	66617203	66617203	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:66617203G>A	ENST00000393960.1	-	21	3307	c.3026C>T	c.(3025-3027)tCa>tTa	p.S1009L	PC_ENST00000393955.2_Missense_Mutation_p.S1009L|PC_ENST00000529047.1_Missense_Mutation_p.S129L|PC_ENST00000528224.1_5'UTR|PC_ENST00000393958.2_Missense_Mutation_p.S1009L	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1009					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622000													9	43					0	0	0.006214	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816268	133816268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:133816268G>A	ENST00000395386.2	+	7	1011	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PHF20L1_ENST00000395379.1_Missense_Mutation_p.E238K|PHF20L1_ENST00000395376.1_Missense_Mutation_p.E242K|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E212K|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E212K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	238							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACATCTAGTGAAACATTTGG	0.368000													4	23					0	0	0.009096	0	0
KLHL28	54813	broad.mit.edu	37	14	45414370	45414370	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:45414370C>T	ENST00000396128.4	-	2	881	c.762G>A	c.(760-762)ttG>ttA	p.L254L	KLHL28_ENST00000355081.2_Silent_p.L268L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	254										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGCTTCATTCAAAAGATGTT	0.398000													6	30					0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65346992	65346992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:65346992C>T	ENST00000330909.8	-	23	3599	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	MAGI1_ENST00000497477.2_Silent_p.E1105E|MAGI1_ENST00000402939.2_Silent_p.E1172E|MAGI1_ENST00000483466.1_Silent_p.E1201E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1201	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CACCATTGATCTCTAAAATTT	0.408000													21	30					0	0	0.012319	0	0
FCGBP	8857	broad.mit.edu	37	19	40366091	40366091	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:40366091A>G	ENST00000221347.6	-	30	14150	c.14143T>C	c.(14143-14145)Tac>Cac	p.Y4715H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4715						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGCCACGTAGGTAGCCACT	0.662000													42	20					0	0	0.010771	0	0
EP300	2033	broad.mit.edu	37	22	41513289	41513289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:41513289C>T	ENST00000263253.7	+	2	1412	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	65	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Q65*(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAATCAGCTTCAGACAAGTCT	0.418000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	43					0	0	0.008871	0	0
TALDO1	6888	broad.mit.edu	37	11	763392	763392	+	Silent	SNP	C	C	T	rs137853085		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:763392C>T	ENST00000319006.3	+	5	663	c.510C>T	c.(508-510)ttC>ttT	p.F170F	TALDO1_ENST00000528097.1_Silent_p.F170F			P37837	TALDO_HUMAN	transaldolase 1	170					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	p.S171delS(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTACTCTTCTCCTTCGCCC	0.637000													31	55					0	0	0.012213	0	0
ANGPT2	285	broad.mit.edu	37	8	6378704	6378704	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:6378704G>C	ENST00000325203.5	-	4	1268	c.794C>G	c.(793-795)tCa>tGa	p.S265*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.S213*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.S265*|ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.S265*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	265					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTTACAGTTTGATGTGGACAT	0.353000													6	26					0	0	0.001984	0	0
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:21172532C>T	ENST00000233047.4	+	2	497	c.29C>T	c.(28-30)tCa>tTa	p.S10L	TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.S10L|TMEM159_ENST00000572599.1_Missense_Mutation_p.S10L|TMEM159_ENST00000451578.2_Missense_Mutation_p.S10L|TMEM159_ENST00000572258.1_Missense_Mutation_p.S10L			Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.448000													24	52					0	0	0.005443	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972236	22972236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:22972236C>T	ENST00000356864.3	+	3	765	c.233C>T	c.(232-234)gCt>gTt	p.A78V	TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	78					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TACACCAACGCTTCCAACAAT	0.483000													29	40					0	0	0.003755	0	0
WT1	7490	broad.mit.edu	37	11	32410605	32410605	+	Nonstop_Mutation	SNP	C	C	G	rs148856160		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:32410605C>G	ENST00000332351.3	-	10	1837	c.1553G>C	c.(1552-1554)tGa>tCa	p.*518S	WT1_ENST00000379079.2_Nonstop_Mutation_p.*303S|WT1_ENST00000530998.1_Nonstop_Mutation_p.*289S|WT1_ENST00000448076.3_Nonstop_Mutation_p.*515S	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGAGACCCCTCAAAGCGCCAG	0.517000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				25	30					0	0	0.004656	0	0
PRDX5	25824	broad.mit.edu	37	11	64085722	64085722	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64085722C>T	ENST00000265462.4	+	1	163	c.35C>T	c.(34-36)tCa>tTa	p.S12L	PRDX5_ENST00000347941.4_Missense_Mutation_p.S12L|PRDX5_ENST00000352435.4_Missense_Mutation_p.S12L	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	12					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CTGAGACGCTCAGCGGGCTAT	0.697000													6	39					0	0	0.001984	0	0
CHD7	55636	broad.mit.edu	37	8	61693742	61693742	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:61693742A>G	ENST00000423902.2	+	3	2328	c.1849A>G	c.(1849-1851)Aaa>Gaa	p.K617E	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.K617E	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	617	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGGTTTTGGTAAAGATGACTT	0.393000													9	7					0	0	0.006214	0	0
SHQ1	55164	broad.mit.edu	37	3	72897392	72897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:72897392C>T	ENST00000325599.8	-	1	239	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	34	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGACCCCTCGAAGTAGACG	0.592000													73	139					0	0	0.014410	0	0
TNS1	7145	broad.mit.edu	37	2	218762563	218762563	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:218762563C>G	ENST00000171887.4	-	6	578	c.126G>C	c.(124-126)gaG>gaC	p.E42D	TNS1_ENST00000310858.6_Missense_Mutation_p.E73D|TNS1_ENST00000430930.1_Missense_Mutation_p.E42D|TNS1_ENST00000419504.1_Missense_Mutation_p.E42D	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	42	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTGCGCCACCTCACGGAGGT	0.572000													31	43					0	0	0.008361	0	0
CHD1	1105	broad.mit.edu	37	5	98235320	98235320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:98235320G>A	ENST00000284049.3	-	7	1098	c.949C>T	c.(949-951)Cag>Tag	p.Q317*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	317	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTAAATACTGAATCTCTCCT	0.398000													56	119					0	0	0.014410	0	0
SP110	3431	broad.mit.edu	37	2	231035336	231035336	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231035336C>T	ENST00000258381.6	-	18	2106		c.e18+1		SP110_ENST00000358662.4_Splice_Site|AC009950.2_ENST00000609120.1_RNA	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGCTCTTTACCTTGTAAAAT	0.443000													10	25					0	0	0.010729	0	0
TTC21A	199223	broad.mit.edu	37	3	39166997	39166997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:39166997G>A	ENST00000301819.6	+	11	1567	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	TTC21A_ENST00000431162.2_Missense_Mutation_p.E464K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E415K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	464							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATTGCTAAGGAGTACTTGCT	0.552000													28	96					0	0	0.013726	0	0
PRRT2	112476	broad.mit.edu	37	16	29824989	29824989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:29824989C>T	ENST00000300797.6	+	2	788	c.614C>T	c.(613-615)tCa>tTa	p.S205L	PRRT2_ENST00000567659.1_Missense_Mutation_p.S205L|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA|PRRT2_ENST00000358758.7_Missense_Mutation_p.S205L			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	205	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCACCACCCTCAAAAAAATCC	0.612000													7	8					0	0	0.003080	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336508	104336508	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:104336508G>A	ENST00000299767.5	+	12	1760	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	526					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCCTAGACCAGTATGTGGAAA	0.423000													18	60					0	0	0.006122	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380186	109380186	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:109380186A>T	ENST00000370001.3	-	7	1790	c.1522T>A	c.(1522-1524)Tca>Aca	p.S508T	AKNAD1_ENST00000369995.3_Missense_Mutation_p.S508T|AKNAD1_ENST00000369994.1_Missense_Mutation_p.S508T|AKNAD1_ENST00000357393.4_Missense_Mutation_p.S215T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	508										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGAGAGTGAAGAGAAGGTG	0.393000													4	62					0	0	0.000602	0	0
TTC13	79573	broad.mit.edu	37	1	231069546	231069546	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:231069546T>G	ENST00000366661.4	-	9	969	c.962A>C	c.(961-963)aAa>aCa	p.K321T	TTC13_ENST00000414259.1_Missense_Mutation_p.K268T|TTC13_ENST00000366662.4_Missense_Mutation_p.K268T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	321							binding	p.K321T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCCTAGACTTTTATATGCATC	0.343000													27	72					0	0	0.013726	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449393	89449393	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89449393C>T	ENST00000399794.2	-	3	832	c.117G>A	c.(115-117)ttG>ttA	p.L39L	RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Silent_p.L39L|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	39	RRM.						nucleotide binding|RNA binding										GGTCTTTTATCAAGAGTACTT	0.423000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	124					0	0	0.013726	0	0
ZNF337	26152	broad.mit.edu	37	20	25657489	25657489	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:25657489C>T	ENST00000376436.1	-	4	974	c.435G>A	c.(433-435)agG>agA	p.R145R	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000538750.1_Silent_p.R113R|ZNF337_ENST00000252979.5_Silent_p.R145R					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTGTTCCTCCTCCTTGAGC	0.443000													31	144					0	0	0.004289	0	0
PRB2	653247	broad.mit.edu	37	12	11547453	11547453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:11547453C>A	ENST00000389362.4	-	2	111	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	PRB1_ENST00000546254.1_Nonsense_Mutation_p.E26*|PRB2_ENST00000545829.1_5'UTR	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATTCTTCCTGGCTGACA	0.428000													29	81					1.16021e-09	1.23889e-09	0.007291	1	0
TMEM182	130827	broad.mit.edu	37	2	103380863	103380863	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:103380863C>G	ENST00000412401.2	+	3	513	c.308C>G	c.(307-309)tCg>tGg	p.S103W	TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409173.1_Missense_Mutation_p.S60W|TMEM182_ENST00000409528.1_Missense_Mutation_p.S7W	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	103						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCACAACTCGACCTCCTAT	0.483000													38	63					0	0	0.006999	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989480	22989480	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:22989480C>T	ENST00000448514.1	+	3	332	c.332C>T	c.(331-333)cCg>cTg	p.P111L	GGTLC2_ENST00000480559.1_Missense_Mutation_p.P111L			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	111					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCAATGTGCCCGACGATCATG	0.652000													32	91					0	0	0.003755	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													4	50					0	0	0.009096	0	0
OR8H1	219469	broad.mit.edu	37	11	56058202	56058202	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:56058202G>T	ENST00000313022.2	-	1	364	c.337C>A	c.(337-339)Ctt>Att	p.L113I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGAGAGAAGAAAACATTCA	0.438000													28	92					2.12542e-12	2.28364e-12	0.006320	1	0
TSKS	60385	broad.mit.edu	37	19	50243365	50243365	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:50243365C>T	ENST00000246801.3	-	10	1655	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	TSKS_ENST00000358830.3_Missense_Mutation_p.E325K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	525							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCAGGGCCTCGTCTTGGGCC	0.632000													68	35					0	0	0.014410	0	0
DAK	26007	broad.mit.edu	37	11	61111381	61111381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:61111381G>A	ENST00000394900.3	+	12	1265	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	346					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTCCATTACTGGGCGGAAGCG	0.622000													15	83					0	0	0.002450	0	0
TMEM19	55266	broad.mit.edu	37	12	72080580	72080580	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:72080580C>A	ENST00000266673.5	+	1	714	c.120C>A	c.(118-120)agC>agA	p.S40R	RP11-293I14.2_ENST00000548802.1_Intron|TMEM19_ENST00000549735.1_Missense_Mutation_p.S40R	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	40						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGACTGCAAGCACCTATTATG	0.318000													7	49					0.000274275	0.000285483	0.004482	1	0
ASPSCR1	79058	broad.mit.edu	37	17	79954451	79954451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79954451C>T	ENST00000306729.7	+	7	759	c.662C>T	c.(661-663)tCa>tTa	p.S221L	ASPSCR1_ENST00000306739.4_Missense_Mutation_p.S221L|ASPSCR1_ENST00000580534.1_Missense_Mutation_p.S144L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	221							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGACACCTCAGGGCCCTGC	0.682000			T	TFE3	alveolar soft part sarcoma								6	23					0	0	0.001168	0	0
ANP32A	8125	broad.mit.edu	37	15	69080146	69080146	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:69080146G>A	ENST00000465139.2	-	2	310	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ANP32A_ENST00000483551.2_5'UTR|ANP32A_ENST00000560303.1_Missense_Mutation_p.S56L	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	56					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GTTTGCGATTGAGGTGAGGCC	0.468000													13	56					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179650673	179650673	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:179650673G>C	ENST00000589042.1	-	14	2496	c.2272C>G	c.(2272-2274)Cac>Gac	p.H758D	TTN_ENST00000360870.5_Missense_Mutation_p.H758D|TTN_ENST00000591111.1_Missense_Mutation_p.H758D|TTN_ENST00000359218.5_Missense_Mutation_p.H712D|TTN_ENST00000342992.6_Missense_Mutation_p.H758D|TTN_ENST00000342175.6_Missense_Mutation_p.H712D|TTN_ENST00000460472.2_Missense_Mutation_p.H712D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	758							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACAACGTGGGGTTCTGAG	0.488000													28	45					0	0	0.006320	0	0
ARSH	347527	broad.mit.edu	37	X	2945385	2945385	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:2945385T>C	ENST00000381130.2	+	7	1068	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	356						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGAAGGAGGTATCCGTGTGC	0.522000													36	20					0	0	0.006230	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643977	20643977	+	RNA	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:20643977G>T	ENST00000428453.1	-	0	3482																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCCGCCCAGGCACAGGCGAC	0.582000													5	26					2.17888e-05	2.28439e-05	0.006214	1	0
TRMT12	55039	broad.mit.edu	37	8	125463982	125463982	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:125463982G>T	ENST00000328599.3	+	1	935	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	272					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCATGCTGTAGTTGCTCTGAG	0.438000													19	130					8.28177e-16	8.96502e-16	0.007413	1	0
GIGYF2	26058	broad.mit.edu	37	2	233651882	233651882	+	Silent	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233651882T>G	ENST00000373566.3	+	10	818	c.621T>G	c.(619-621)ggT>ggG	p.G207G	GIGYF2_ENST00000373563.4_Silent_p.G185G|GIGYF2_ENST00000452341.2_Silent_p.G16G|GIGYF2_ENST00000409196.3_Silent_p.G185G|GIGYF2_ENST00000409451.3_Silent_p.G207G|GIGYF2_ENST00000409480.1_Silent_p.G207G|GIGYF2_ENST00000409547.1_Silent_p.G185G			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	185	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGAGGAAGGTGGACCAACAT	0.383000													9	41					0	0	0.008291	0	0
BTAF1	9044	broad.mit.edu	37	10	93768614	93768614	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:93768614A>G	ENST00000265990.6	+	27	4150	c.3842A>G	c.(3841-3843)aAt>aGt	p.N1281S	BTAF1_ENST00000544642.1_Missense_Mutation_p.N109S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1281	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTTCTTAATAAGTATAAA	0.294000													9	42					0	0	0.001855	0	0
C14orf183	196913	broad.mit.edu	37	14	50559295	50559295	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:50559295T>C	ENST00000305273.1	-	1	66	c.67A>G	c.(67-69)Atg>Gtg	p.M23V		NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	23										endometrium(2)|large_intestine(2)|lung(3)	7						CACATTTCCATCCAGATTTCA	0.438000													11	28					0	0	0.013537	0	0
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:112154981G>T	ENST00000457016.1	+	10	1632	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	APC_ENST00000508376.2_Nonsense_Mutation_p.E418*|APC_ENST00000257430.4_Nonsense_Mutation_p.E418*			P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			36	30					7.53189e-24	8.18396e-24	0.007835	1	0
ZNF300	91975	broad.mit.edu	37	5	150275006	150275006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:150275006G>A	ENST00000446148.2	-	7	2270	c.1843C>T	c.(1843-1845)Cac>Tac	p.H615Y	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Missense_Mutation_p.H599Y|ZNF300_ENST00000394226.2_Missense_Mutation_p.H599Y|ZNF300_ENST00000418587.2_Missense_Mutation_p.H563Y	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACTGTGTGAATTCTCTGG	0.388000													7	46					0	0	0.003080	0	0
CNTN3	5067	broad.mit.edu	37	3	74350557	74350557	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:74350557T>C	ENST00000263665.6	-	15	2114	c.2087A>G	c.(2086-2088)gAa>gGa	p.E696G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	696					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTGCCTCTTCAGTTCTTAC	0.433000													19	62					0	0	0.014323	0	0
PCBP1	5093	broad.mit.edu	37	2	70315790	70315790	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:70315790C>T	ENST00000303577.5	+	1	1206	c.915C>T	c.(913-915)atC>atT	p.I305I	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	305	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TTAATGAGATCCGCCAGATGT	0.502000													25	39					0	0	0.003330	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220640	20220640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220640G>C	ENST00000361479.5	+	3	495	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E143Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	143					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TCAGCAAAGTGAGACAAAAGA	0.338000													5	32					0	0	0.001168	0	0
C2orf62	375307	broad.mit.edu	37	2	219229358	219229358	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:219229358T>C	ENST00000289388.3	+	7	667	c.638T>C	c.(637-639)cTg>cCg	p.L213P	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	213										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAAAACCTGGGCTTCCAG	0.562000													38	51					0	0	0.004878	0	0
GNB4	59345	broad.mit.edu	37	3	179119064	179119064	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:179119064T>C	ENST00000232564.3	-	10	1246	c.960A>G	c.(958-960)gtA>gtG	p.V320V	GNB4_ENST00000468623.1_Silent_p.V320V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	320					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATCATCAGTTACACCTAAGC	0.383000													20	29					0	0	0.014323	0	0
TSPAN6	7105	broad.mit.edu	37	X	99888412	99888412	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:99888412A>T	ENST00000373020.4	-	5	686	c.575T>A	c.(574-576)gTa>gAa	p.V192E	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	192					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						TTCATTGTTTACTTTGTCTGC	0.303000													14	32					0	0	0.004007	0	0
CMTM8	152189	broad.mit.edu	37	3	32280541	32280541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:32280541G>A	ENST00000307526.3	+	1	371	c.77G>A	c.(76-78)aGc>aAc	p.S26N	CMTM8_ENST00000458535.2_Missense_Mutation_p.S26N	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	26					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTCTCCACCAGCAGCAGCAGC	0.706000													5	6					0	0	0.001168	0	0
TRPS1	7227	broad.mit.edu	37	8	116616147	116616147	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:116616147T>A	ENST00000395715.3	-	4	2626	c.2049A>T	c.(2047-2049)aaA>aaT	p.K683N	TRPS1_ENST00000520276.1_Missense_Mutation_p.K674N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K670N|TRPS1_ENST00000519076.1_Missense_Mutation_p.K424N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K670N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	670	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAAAATCACATTTGGTACATG	0.443000									Langer-Giedion syndrome				27	27					0	0	0.008361	0	0
MYCBP2	23077	broad.mit.edu	37	13	77669735	77669735	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:77669735G>A	ENST00000407578.2	-	58	10223	c.9957C>T	c.(9955-9957)gtC>gtT	p.V3319V	MYCBP2_ENST00000544440.2_Silent_p.V3281V|MYCBP2_ENST00000357337.6_Silent_p.V3281V|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGATTGTTTGACCTGGCGAA	0.373000													24	33					0	0	0.004656	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40241433	40241433	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:40241433G>A	ENST00000263791.5	+	4	520	c.477G>A	c.(475-477)caG>caA	p.Q159Q	EIF2AK4_ENST00000382727.2_Silent_p.Q159Q|EIF2AK4_ENST00000559624.1_Silent_p.Q159Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	159					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGAGCAGCAGAGGCTGTTGG	0.542000													10	33					0	0	0.008291	0	0
MPP5	64398	broad.mit.edu	37	14	67768707	67768707	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:67768707G>A	ENST00000261681.4	+	6	1334	c.673G>A	c.(673-675)Gat>Aat	p.D225N	MPP5_ENST00000555925.1_Missense_Mutation_p.D191N	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	225	Interaction with LIN7C (By similarity).|L27 2.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACTGGCCCACGATAAGGTTGC	0.383000													14	31					0	0	0.002450	0	0
RBP3	5949	broad.mit.edu	37	10	48389779	48389779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:48389779C>T	ENST00000224600.4	-	1	1212	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	367	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGACCAGATCTTCCTCGGAG	0.632000													14	33					0	0	0.001855	0	0
C17orf74	201243	broad.mit.edu	37	17	7329872	7329872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7329872G>T	ENST00000333870.3	+	3	636	c.562G>T	c.(562-564)Gag>Tag	p.E188*	C17orf74_ENST00000574034.1_Missense_Mutation_p.G75V|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	188						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTGGAGGAGGAGGACAACCT	0.592000													54	69					9.72345e-25	1.05785e-24	0.014410	1	0
KIFC2	90990	broad.mit.edu	37	8	145698738	145698738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145698738C>T	ENST00000301332.2	+	17	2799	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	808	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCGGGCTCGGCTCTCGCG	0.701000													5	12					0	0	0.000602	0	0
SLC45A3	85414	broad.mit.edu	37	1	205633626	205633626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:205633626C>T	ENST00000367145.3	-	2	454	c.159G>A	c.(157-159)atG>atA	p.M53I		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	53					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCACCATGGTCATGAACTTCT	0.572000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								71	166					0	0	0.014410	0	0
WDR27	253769	broad.mit.edu	37	6	170047876	170047876	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:170047876C>G	ENST00000333572.6	-	16	2169	c.1650G>C	c.(1648-1650)caG>caC	p.Q550H	WDR27_ENST00000423258.1_Missense_Mutation_p.Q423H|WDR27_ENST00000448612.1_Missense_Mutation_p.Q550H|WDR27_ENST00000546525.1_5'UTR			A2RRH5	WDR27_HUMAN	WD repeat domain 27	520										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CACCTGAGTACTGGATGCAGC	0.562000													4	2					0	0	0.009096	0	0
FAM161A	84140	broad.mit.edu	37	2	62067514	62067514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:62067514C>T	ENST00000404929.1	-	3	636	c.625G>A	c.(625-627)Gag>Aag	p.E209K	FAM161A_ENST00000405894.3_Missense_Mutation_p.E209K	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	209					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATAATCCTCAACACAAAAG	0.408000													17	106					0	0	0.007413	0	0
RASSF2	9770	broad.mit.edu	37	20	4778713	4778713	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:4778713A>T	ENST00000379400.3	-	4	273	c.78T>A	c.(76-78)caT>caA	p.H26Q	RASSF2_ENST00000379376.2_Missense_Mutation_p.H26Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	26					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGGTCTTCAGATGCAAGAGAA	0.473000													17	40					0	0	0.012319	0	0
C15orf26	161502	broad.mit.edu	37	15	81440822	81440822	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:81440822C>G	ENST00000286732.4	+	7	937	c.854C>G	c.(853-855)cCc>cGc	p.P285R		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	285										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CCCAAACCACCCACAGAGGAC	0.547000													9	50					0	0	0.008291	0	0
CCDC116	164592	broad.mit.edu	37	22	21988323	21988323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:21988323A>T	ENST00000292779.3	+	3	246	c.85A>T	c.(85-87)Aag>Tag	p.K29*	CCDC116_ENST00000607942.1_Nonsense_Mutation_p.K29*	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	29										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCAGCTGCCCAAGAAGCCACT	0.642000													28	75					0	0	0.007291	0	0
IDI2	91734	broad.mit.edu	37	10	1066834	1066834	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:1066834T>C	ENST00000277517.1	-	4	303	c.239A>G	c.(238-240)tAt>tGt	p.Y80C		NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	80	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GTCGGTAAAATACCCTGGAAA	0.443000													16	27					0	0	0.008871	0	0
SNTG2	54221	broad.mit.edu	37	2	1133464	1133464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:1133464T>C	ENST00000308624.5	+	6	509	c.380T>C	c.(379-381)aTa>aCa	p.I127T	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	127	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTTAATGGCATACATGTAGAA	0.269000													26	45					0	0	0.006320	0	0
CNTN6	27255	broad.mit.edu	37	3	1445006	1445006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:1445006G>C	ENST00000446702.2	+	23	3618	c.2991G>C	c.(2989-2991)ttG>ttC	p.L997F	CNTN6_ENST00000350110.2_Missense_Mutation_p.L997F|CNTN6_ENST00000539053.1_Missense_Mutation_p.L925F			Q9UQ52	CNTN6_HUMAN	contactin 6	997					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGCAGGTTTGAGTTCCAGAG	0.303000													12	40					0	0	0.010729	0	0
MIR320A	407037	broad.mit.edu	37	8	22102504	22102504	+	RNA	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:22102504G>C	ENST00000385302.1	-	0	52					NR_029714.1																						TCTCAACCCAGCTTTTCCCGA	0.647000													3	73					0	0	0.009096	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478337	14478337	+	RNA	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:14478337T>C	ENST00000581457.1	-	0	1571					NR_024076.1																						TATCCCTCCATGTTGGAAGGA	0.512000													9	16					0	0	0.004482	0	0
FBXO36	130888	broad.mit.edu	37	2	230787323	230787323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:230787323C>G	ENST00000283946.3	+	1	112	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	FBXO36_ENST00000373652.3_5'UTR|FBXO36_ENST00000409992.1_Missense_Mutation_p.Q32E	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	32										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACCCGGTCTCAGGCAAGTGC	0.612000													12	34					0	0	0.010729	0	0
OTUD5	55593	broad.mit.edu	37	X	48780496	48780496	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:48780496C>T	ENST00000156084.4	-	9	1731	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	OTUD5_ENST00000396743.3_Missense_Mutation_p.M552I|OTUD5_ENST00000376488.3_Missense_Mutation_p.M552I|OTUD5_ENST00000428668.2_Missense_Mutation_p.M335I	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	557					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGTTTTTCTTCATACTGTCTA	0.532000													33	26					0	0	0.003271	0	0
TRIM60	166655	broad.mit.edu	37	4	165961621	165961621	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:165961621A>G	ENST00000512596.1	+	3	613	c.397A>G	c.(397-399)Att>Gtt	p.I133V	TRIM60_ENST00000341062.5_Missense_Mutation_p.I133V|TRIM60_ENST00000508504.1_Missense_Mutation_p.I133V	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	133						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CATTTGCCCTATTAAGAAAGC	0.398000													11	26					0	0	0.010729	0	0
RAD9A	5883	broad.mit.edu	37	11	67161232	67161232	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:67161232G>A	ENST00000307980.2	+	5	513	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	140					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACCCAGCCTCGTGCCCCCACA	0.652000								Other conserved DNA damage response genes					5	9					0	0	0.000602	0	0
PLK3	1263	broad.mit.edu	37	1	45268645	45268645	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:45268645G>A	ENST00000372201.4	+	7	1007	c.768G>A	c.(766-768)ggG>ggA	p.G256G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	256	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCTCTGCGGGAGCCCTCCCT	0.622000													18	77					0	0	0.010504	0	0
FARP1	10160	broad.mit.edu	37	13	99083317	99083317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:99083317G>A	ENST00000376586.2	+	18	2262	c.1926G>A	c.(1924-1926)tgG>tgA	p.W642*	FARP1_ENST00000319562.6_Nonsense_Mutation_p.W642*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.W642*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	642	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.W642*(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTGTGGAAGCACAGCG	0.577000													11	46					0	0	0.010729	0	0
TMEM80	283232	broad.mit.edu	37	11	703012	703012	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:703012C>T	ENST00000608174.1	+	5	506	c.369C>T	c.(367-369)acC>acT	p.T123T	TMEM80_ENST00000397512.3_Silent_p.T115T|TMEM80_ENST00000397510.3_Silent_p.T171T|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCTGGCACCGCCCTCCTCT	0.692000													12	46					0	0	0.013537	0	0
SLC2A2	6514	broad.mit.edu	37	3	170727792	170727792	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:170727792G>C	ENST00000314251.3	-	4	530	c.451C>G	c.(451-453)Cat>Gat	p.H151D	SLC2A2_ENST00000382808.4_Missense_Mutation_p.H32D	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	151					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATAAGTATATGAGATGGTCCC	0.388000													14	24					0	0	0.001855	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704198	47704198	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:47704198C>A	ENST00000397708.1	-	2	1257	c.1003G>T	c.(1003-1005)Ggt>Tgt	p.G335C	MCM3AP_ENST00000291688.1_Missense_Mutation_p.G335C			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	335					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATAAAGTACCTCCCCGGGGT	0.522000													33	124					2.70662e-09	2.87952e-09	0.009535	1	0
ITGAM	3684	broad.mit.edu	37	16	31341893	31341893	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:31341893G>A	ENST00000544665.3	+	28	3317	c.3246G>A	c.(3244-3246)ctG>ctA	p.L1082L	ITGAM_ENST00000287497.8_Silent_p.L1081L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1081					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGTTCACCCTGCTGCCGGGAC	0.592000													7	14					0	0	0.003080	0	0
ETAA1	54465	broad.mit.edu	37	2	67630955	67630955	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:67630955G>A	ENST00000272342.5	+	5	1271	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	381						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGATTTTGAGGATGATTGGGA	0.363000													28	46					0	0	0.008361	0	0
KERA	11081	broad.mit.edu	37	12	91449642	91449642	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:91449642T>C	ENST00000266719.3	-	2	664	c.417A>G	c.(415-417)ccA>ccG	p.P139P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	139					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTTGGCAATGGAGAAGGTA	0.413000													25	84					0	0	0.003330	0	0
USP10	9100	broad.mit.edu	37	16	84778354	84778354	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:84778354A>G	ENST00000219473.7	+	4	380	c.267A>G	c.(265-267)gaA>gaG	p.E89E	USP10_ENST00000570191.1_Silent_p.E93E|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	89	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGGCCCCTGAATTTATTCTCG	0.493000													31	47					0	0	0.013726	0	0
DNM3	26052	broad.mit.edu	37	1	172357752	172357752	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:172357752A>G	ENST00000358155.4	+	20	2501	c.2325A>G	c.(2323-2325)acA>acG	p.T775T	DNM3_ENST00000367731.1_Silent_p.T771T|DNM3_ENST00000355305.5_Silent_p.T781T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	781					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGGCCAACACTAAGTGCTC	0.562000													15	45					0	0	0.004990	0	0
MIPOL1	145282	broad.mit.edu	37	14	37739687	37739687	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:37739687C>T	ENST00000327441.7	+	7	916	c.450C>T	c.(448-450)ctC>ctT	p.L150L	MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000537471.1_Silent_p.L150L|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000396294.2_Silent_p.L150L|MIPOL1_ENST00000539062.2_Silent_p.L119L|MIPOL1_ENST00000545536.1_Silent_p.L119L|MIPOL1_ENST00000556451.1_Silent_p.L119L	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	150										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGCTGGAACTCCAAGAGAAAG	0.333000													8	15					0	0	0.004482	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021986	8021986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:8021986C>T	ENST00000296372.8	-	12	1355	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438N|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405N|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D405N|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000318888.4_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGCTTGCTGTCAGAGAGCACG	0.622000													7	27					0	0	0.001984	0	0
PAX6	5080	broad.mit.edu	37	11	31823446	31823446	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:31823446T>A	ENST00000419022.1	-	6	624	c.156A>T	c.(154-156)gcA>gcT	p.A52A	PAX6_ENST00000379107.2_Silent_p.A52A|PAX6_ENST00000379111.2_Intron|PAX6_ENST00000379129.2_Silent_p.A52A|PAX6_ENST00000241001.8_Intron|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379115.4_Silent_p.A52A|PAX6_ENST00000379123.5_Intron|PAX6_ENST00000379132.3_Intron	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	47	Paired.		C -> R (in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein).		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)					CTTGGACTTTTGCATCTGCAT	0.294000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				8	19					0	0	0.003080	0	0
RBM6	10180	broad.mit.edu	37	3	50012766	50012766	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:50012766C>T	ENST00000443081.1	+	5	1947	c.1028C>T	c.(1027-1029)gCt>gTt	p.A343V	RBM6_ENST00000422955.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.A475V|RBM6_ENST00000441115.1_3'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	475					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATTCTTAATGCTTTTCGGACT	0.358000													22	59					0	0	0.014323	0	0
C2orf61	285051	broad.mit.edu	37	2	47378469	47378469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:47378469C>T	ENST00000294947.2	-	3	362	c.327G>A	c.(325-327)aaG>aaA	p.K109K	RP11-761B3.1_ENST00000422269.1_3'UTR|C2orf61_ENST00000445927.2_Silent_p.K109K	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	109								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACTTGCTTCTTTAACAGGT	0.453000													32	72					0	0	0.012213	0	0
UBE3B	89910	broad.mit.edu	37	12	109940962	109940962	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:109940962A>G	ENST00000342494.3	+	14	2012	c.1417A>G	c.(1417-1419)Act>Gct	p.T473A	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.T473A|UBE3B_ENST00000280774.5_Missense_Mutation_p.T473A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCGCTGACAACTCTCACACA	0.517000													12	39					0	0	0.013537	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276256	185276256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:185276256C>T	ENST00000367498.3	-	7	1169	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	183	BACK.|Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACATTATCTTCAAGCATTACC	0.413000													14	29					0	0	0.002450	0	0
ABI1	10006	broad.mit.edu	37	10	27149698	27149698	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:27149698T>C	ENST00000355394.4	-	1	318	c.95A>G	c.(94-96)tAc>tGc	p.Y32C	ABI1_ENST00000359188.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376137.4_Missense_Mutation_p.Y32C|ABI1_ENST00000346832.5_Missense_Mutation_p.Y32C|ABI1_ENST00000376166.1_Missense_Mutation_p.Y32C|ABI1_ENST00000536334.1_Missense_Mutation_p.Y32C|ABI1_ENST00000376170.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376134.3_Missense_Mutation_p.Y32C|ABI1_ENST00000376138.3_Missense_Mutation_p.Y32C|ABI1_ENST00000376142.2_Missense_Mutation_p.Y32C|ABI1_ENST00000490841.2_Missense_Mutation_p.Y32C|ABI1_ENST00000376160.1_Missense_Mutation_p.Y32C|ABI1_ENST00000376140.3_Missense_Mutation_p.Y32C|ABI1_ENST00000376139.2_Missense_Mutation_p.Y32C			Q8IZP0	ABI1_HUMAN	abl-interactor 1	32	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTTTCACAGTAGTCTGCCAC	0.627000													24	62					0	0	0.003954	0	0
CHD1	1105	broad.mit.edu	37	5	98232937	98232937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:98232937G>A	ENST00000284049.3	-	10	1602	c.1453C>T	c.(1453-1455)Caa>Taa	p.Q485*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	485					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCATTCAGTTGATAATCTCTT	0.343000													19	49					0	0	0.007413	0	0
ARID4B	51742	broad.mit.edu	37	1	235338665	235338665	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:235338665C>G	ENST00000264183.3	-	22	3995	c.3498G>C	c.(3496-3498)aaG>aaC	p.K1166N	ARID4B_ENST00000349213.3_Missense_Mutation_p.K1080N|ARID4B_ENST00000366603.2_Missense_Mutation_p.K1166N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGGCTGACTCTTAGTTATAC	0.358000													26	57					0	0	0.005443	0	0
IL4R	3566	broad.mit.edu	37	16	27373925	27373925	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:27373925G>A	ENST00000395762.2	+	11	1511	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	IL4R_ENST00000543915.2_Missense_Mutation_p.E418K|IL4R_ENST00000380922.3_Missense_Mutation_p.E403K|IL4R_ENST00000170630.2_Missense_Mutation_p.E418K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	418					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCTCGGAGAGGAGAATGGGGG	0.597000													10	50					0	0	0.010729	0	0
GBP7	388646	broad.mit.edu	37	1	89615138	89615138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89615138G>A	ENST00000294671.2	-	7	1127	c.989C>T	c.(988-990)gCa>gTa	p.A330V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	330						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTGGTTGGCTGCCCTCTGCAC	0.577000													48	43					0	0	0.014410	0	0
RPL26L1	51121	broad.mit.edu	37	5	172386963	172386963	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:172386963C>T	ENST00000521476.1	+	2	211	c.87C>T	c.(85-87)atC>atT	p.I29I	RPL26L1_ENST00000519974.1_Silent_p.I29I|RPL26L1_ENST00000519239.1_Silent_p.I29I|RPL26L1_ENST00000265100.2_Silent_p.I29I			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGGAAGATCATGTCATCCC	0.577000													31	87					0	0	0.003271	0	0
LGR4	55366	broad.mit.edu	37	11	27389570	27389570	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:27389570G>A	ENST00000379214.4	-	18	3143	c.2700C>T	c.(2698-2700)ggC>ggT	p.G900G	LGR4_ENST00000389858.4_Silent_p.G876G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	900						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCGACTGTGTGCCACAGTCGG	0.512000													24	44					0	0	0.014323	0	0
SPEN	23013	broad.mit.edu	37	1	16265921	16265921	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16265921G>A	ENST00000375759.3	+	15	11198	c.10994G>A	c.(10993-10995)tGa>tAa	p.*3665*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	0					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCCGTGTGAGCCACTGAG	0.552000													73	124					0	0	0.014410	0	0
RNF216	54476	broad.mit.edu	37	7	5760771	5760771	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:5760771G>A	ENST00000425013.2	-	9	1590	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	RNF216_ENST00000389902.3_Missense_Mutation_p.L513F	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	456					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTATTTTCAAGAAAGAACATC	0.428000													23	49					0	0	0.002780	0	0
CCDC34	91057	broad.mit.edu	37	11	27360567	27360567	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:27360567T>C	ENST00000328697.6	-	6	1596	c.923A>G	c.(922-924)aAt>aGt	p.N308S	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	308										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TGGATAGGAATTTCCACTGTA	0.338000													8	37					0	0	0.003080	0	0
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:132071660G>A	ENST00000336375.5	+	9	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ACPP_ENST00000351273.7_Missense_Mutation_p.E321K|ACPP_ENST00000475741.1_Missense_Mutation_p.E288K	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	321						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTGTACTTTGAGAAGGGGTA	0.433000													14	29					0	0	0.001855	0	0
MEOX1	4222	broad.mit.edu	37	17	41719371	41719371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:41719371C>G	ENST00000318579.4	-	3	1091	c.672G>C	c.(670-672)atG>atC	p.M224I	MEOX1_ENST00000329168.3_Missense_Mutation_p.E167Q|MEOX1_ENST00000549132.1_Missense_Mutation_p.M137I|MEOX1_ENST00000393661.2_Missense_Mutation_p.M109I	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	224						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCTTCCACTTCATCCTTCGGT	0.582000													28	119					0	0	0.012213	0	0
C1R	715	broad.mit.edu	37	12	7244200	7244200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:7244200C>T	ENST00000542285.1	-	2	225	c.76G>A	c.(76-78)Ggg>Agg	p.G26R				P00736	C1R_HUMAN	complement component 1, r subcomponent	27	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCACCTCCCCAAATAACTTC	0.537000													4	3					0	0	0.009096	0	0
FAM166A	401565	broad.mit.edu	37	9	140139108	140139108	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:140139108A>G	ENST00000344774.4	-	5	787	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	245										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CTCTTGTCGAATTCGTCCATG	0.577000													24	18					0	0	0.005443	0	0
FRAS1	80144	broad.mit.edu	37	4	79430151	79430151	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:79430151C>T	ENST00000264895.6	+	63	10211	c.9771C>T	c.(9769-9771)gtC>gtT	p.V3257V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3252					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCAGTGTCAACCACATGG	0.532000													12	48					0	0	0.001855	0	0
C21orf59	56683	broad.mit.edu	37	21	33979964	33979964	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:33979964A>G	ENST00000382549.4	-	3	712	c.370T>C	c.(370-372)Tct>Cct	p.S124P	C21orf59_ENST00000290155.3_Missense_Mutation_p.S124P|AP000275.65_ENST00000553001.1_Missense_Mutation_p.S124P|C21orf59_ENST00000540881.1_Missense_Mutation_p.S68P			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	124						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CCAACCTTAGATATTATTGCT	0.348000													15	40					0	0	0.002450	0	0
FAM63A	55793	broad.mit.edu	37	1	150972380	150972380	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:150972380T>C	ENST00000361936.5	-	7	1750	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	FAM63A_ENST00000361738.6_Missense_Mutation_p.I314V|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Missense_Mutation_p.I171V|FAM63A_ENST00000312210.5_Missense_Mutation_p.I124V	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	266							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGCAGGTGATGATCCTCTCC	0.507000													20	59					0	0	0.010504	0	0
KL	9365	broad.mit.edu	37	13	33635170	33635170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:33635170G>A	ENST00000380099.3	+	4	1962	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCCTCCTGGCCAGGCAGGG	0.627000													12	61					0	0	0.013537	0	0
GPKOW	27238	broad.mit.edu	37	X	48973498	48973498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:48973498C>T	ENST00000156109.5	-	6	877	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	267	KOW 1.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGAACATTGTCAGGATCAAGG	0.547000													36	23					0	0	0.004878	0	0
PRSS53	339105	broad.mit.edu	37	16	31098143	31098143	+	Missense_Mutation	SNP	C	C	T	rs138969193	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:31098143C>T	ENST00000280606.6	-	4	472	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	107	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCCACCTCTTCGGCCCCAGGG	0.642000													11	56					0	0	0.008291	0	0
CD101	9398	broad.mit.edu	37	1	117556087	117556087	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:117556087G>A	ENST00000256652.4	+	4	959	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CD101_ENST00000369470.1_Missense_Mutation_p.E301K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	301	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAACCCTTAGAACTGGTTTG	0.463000													15	94					0	0	0.003163	0	0
F12	2161	broad.mit.edu	37	5	176831015	176831015	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:176831015C>T	ENST00000253496.3	-	10	1143	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	365					Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACAGACTCTTGCGGAGCC	0.701000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0	0	0.008291	0	0
OR6C65	403282	broad.mit.edu	37	12	55794973	55794973	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:55794973A>G	ENST00000379665.2	+	1	760	c.661A>G	c.(661-663)Aaa>Gaa	p.K221E		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACTCATCCTTAAAACAATTCT	0.418000													36	93					0	0	0.004878	0	0
LDB1	8861	broad.mit.edu	37	10	103868023	103868023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:103868023C>T	ENST00000361198.5	-	11	1578	c.955G>A	c.(955-957)Gag>Aag	p.E319K	LDB1_ENST00000425280.1_Missense_Mutation_p.E355K	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	355					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATGAGCCTCTCGTCCTCGTCC	0.622000													12	45					0	0	0.001855	0	0
CUL4A	8451	broad.mit.edu	37	13	113893835	113893835	+	Silent	SNP	G	G	T	rs138821614	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:113893835G>T	ENST00000451881.1	+	10	954	c.705G>T	c.(703-705)gcG>gcT	p.A235A	CUL4A_ENST00000375440.4_Silent_p.A335A|CUL4A_ENST00000375441.3_Silent_p.A235A|CUL4A_ENST00000326335.4_Silent_p.A235A	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	335					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGCAGCAGGCGCTGCTGCAGC	0.637000													20	74					1.96895e-08	2.08194e-08	0.002780	1	0
PADI1	29943	broad.mit.edu	37	1	17565174	17565174	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:17565174G>A	ENST00000375471.4	+	13	1614	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	PADI1_ENST00000537499.1_Missense_Mutation_p.E65K|PADI1_ENST00000413717.2_Missense_Mutation_p.E65K|PADI1_ENST00000536552.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	508					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAAGAAAGAAGAGGGTTATGG	0.607000													4	9					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486457	133486457	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:133486457C>G	ENST00000409261.1	-	18	5885	c.5512G>C	c.(5512-5514)Gct>Cct	p.A1838P	NCKAP5_ENST00000409213.1_Missense_Mutation_p.A519P|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1838P|NCKAP5_ENST00000405974.3_Missense_Mutation_p.A519P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1838							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGTCTTCAGCATATCCGAAT	0.537000													43	205					0	0	0.009718	0	0
CHD7	55636	broad.mit.edu	37	8	61655515	61655515	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:61655515T>C	ENST00000423902.2	+	2	2003	c.1524T>C	c.(1522-1524)ttT>ttC	p.F508F	CHD7_ENST00000524602.1_Silent_p.F508F|CHD7_ENST00000525508.1_Silent_p.F508F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	508	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCCATCTTTTCAGCAGTTGC	0.572000													3	17					0	0	0.009096	0	0
ARMC1	55156	broad.mit.edu	37	8	66517678	66517678	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:66517678G>A	ENST00000276569.3	-	5	805	c.561C>T	c.(559-561)atC>atT	p.I187I	ARMC1_ENST00000458464.2_Silent_p.I85I	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	187					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AATCTGAACGGATTCGCACCA	0.333000													23	33					0	0	0.006320	0	0
AJAP1	55966	broad.mit.edu	37	1	4832502	4832502	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:4832502C>T	ENST00000378191.4	+	4	1461	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	AJAP1_ENST00000378190.3_Silent_p.C360C	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	360	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCACGAGTGCGTCAGGGCAT	0.592000													9	32					0	0	0.006214	0	0
MED11	400569	broad.mit.edu	37	17	4635097	4635097	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:4635097G>A	ENST00000293777.5	+	2	168	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MED11_ENST00000573708.1_Missense_Mutation_p.E38K|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E38K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	38					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						ATTGTCCAAGGAAAAAACTAA	0.617000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.002450	0	0
PSIP1	11168	broad.mit.edu	37	9	15469043	15469043	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:15469043C>A	ENST00000380733.4	-	13	1461	c.1118G>T	c.(1117-1119)tGc>tTc	p.C373F	PSIP1_ENST00000380738.4_Missense_Mutation_p.C373F			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	373					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGCCTCAATGCATCTGTTCAC	0.343000													18	11					1.33834e-09	1.42558e-09	0.007413	1	0
VPS8	23355	broad.mit.edu	37	3	184612519	184612519	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:184612519A>G	ENST00000287546.4	+	22	1981	c.1810A>G	c.(1810-1812)Aaa>Gaa	p.K604E	VPS8_ENST00000446204.2_Intron|VPS8_ENST00000436792.2_Missense_Mutation_p.K602E|VPS8_ENST00000437079.3_Missense_Mutation_p.K604E	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	604							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GATGTATGATAAATTAAGTGA	0.353000													3	14					0	0	0.009096	0	0
PLXNA4	91584	broad.mit.edu	37	7	131853207	131853207	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:131853207C>T	ENST00000359827.3	-	22	5104	c.4142G>A	c.(4141-4143)cGc>cAc	p.R1381H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1381H			Q9HCM2	PLXA4_HUMAN	plexin A4	1381						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCACGGTCGCGCATGGAGAA	0.582000													6	43					0	0	0.004482	0	0
CASKIN1	57524	broad.mit.edu	37	16	2236758	2236758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:2236758C>A	ENST00000343516.6	-	10	1090	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	333	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTAGCCCACCCGGTCATTGCC	0.677000													19	14					6.94344e-10	7.42348e-10	0.006122	1	0
LUC7L	55692	broad.mit.edu	37	16	239316	239316	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:239316T>C	ENST00000293872.8	-	10	1107	c.997A>G	c.(997-999)Aga>Gga	p.R333G	LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	333	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GACTCCTCTCTGGATGCCCGC	0.647000													50	30					0	0	0.014410	0	0
THAP10	56906	broad.mit.edu	37	15	71184460	71184460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:71184460G>C	ENST00000249861.4	-	1	664	c.152C>G	c.(151-153)tCg>tGg	p.S51W	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	51							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCAGATGACCGAGCGGTCATT	0.637000													6	31					0	0	0.003080	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595908	44595908	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:44595908C>T	ENST00000245121.5	+	10	923	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KATNAL2_ENST00000356157.7_Silent_p.F315F|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	315						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAACAACCTTCTTTAACATTT	0.378000													16	49					0	0	0.004007	0	0
ACKR4	51554	broad.mit.edu	37	3	132319410	132319410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:132319410G>A	ENST00000249887.2	+	2	265	c.169G>A	c.(169-171)Gca>Aca	p.A57T	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		CATTGGACTTGCAGGCAATTC	0.383000													20	23					0	0	0.003954	0	0
SF3B4	10262	broad.mit.edu	37	1	149897916	149897916	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:149897916G>A	ENST00000271628.8	-	4	1309	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	242						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGGGAAGGAGCCAGGAGG	0.582000													15	24					0	0	0.004990	0	0
DENND5A	23258	broad.mit.edu	37	11	9161320	9161320	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:9161320G>A	ENST00000328194.3	-	23	4082	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I	DENND5A_ENST00000527700.1_Silent_p.I597I|DENND5A_ENST00000530044.1_3'UTR	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1254	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TATGGTCTTTGATCAGTGCCA	0.527000													9	25					0	0	0.004482	0	0
NAPB	63908	broad.mit.edu	37	20	23375803	23375803	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:23375803A>G	ENST00000377026.4	-	4	400	c.315T>C	c.(313-315)aaT>aaC	p.N105N	NAPB_ENST00000472855.1_Intron|NAPB_ENST00000398425.3_Intron|NAPB_ENST00000432543.2_Silent_p.N66N	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	105					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CGATGGCTGCATTTAAGCAGT	0.428000													12	17					0	0	0.001855	0	0
FNIP2	57600	broad.mit.edu	37	4	159747136	159747136	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:159747136G>A	ENST00000264433.6	+	2	251	c.176G>A	c.(175-177)gGc>gAc	p.G59D	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Missense_Mutation_p.G82D	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	59					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GACAGGAGAGGCAGACAAGTC	0.413000													36	81					0	0	0.003755	0	0
AMELX	265	broad.mit.edu	37	X	11316858	11316858	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:11316858T>C	ENST00000380712.3	+	6	445	c.377T>C	c.(376-378)aTc>aCc	p.I126T	ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.I112T|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000348912.4_Missense_Mutation_p.I96T|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380736.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	112					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ATGACTCCAATCCAACACCAC	0.642000													65	39					0	0	0.014410	0	0
SYT1	6857	broad.mit.edu	37	12	79689917	79689917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:79689917C>G	ENST00000261205.4	+	7	1200	c.543C>G	c.(541-543)taC>taG	p.Y181*	SYT1_ENST00000552744.1_Nonsense_Mutation_p.Y181*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Y181*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Y178*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	181	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.Y181*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGATCCTTACGTGAAAGTGT	0.433000													31	40					0	0	0.010818	0	0
NPAP1	23742	broad.mit.edu	37	15	24922847	24922847	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:24922847G>A	ENST00000329468.2	+	1	2307	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGCAGAGCAGAGGCACCCGG	0.463000													12	49					0	0	0.013537	0	0
TRIP11	9321	broad.mit.edu	37	14	92466417	92466417	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:92466417T>A	ENST00000267622.4	-	12	4966	c.4593A>T	c.(4591-4593)gcA>gcT	p.A1531A		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1531					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGATTTAACTGCATTTAAAA	0.353000			T	PDGFRB	AML								7	25					0	0	0.003080	0	0
FSTL5	56884	broad.mit.edu	37	4	162697045	162697045	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:162697045A>C	ENST00000306100.5	-	5	1027	c.591T>G	c.(589-591)atT>atG	p.I197M	FSTL5_ENST00000536695.1_Missense_Mutation_p.I196M|FSTL5_ENST00000379164.4_Missense_Mutation_p.I196M|FSTL5_ENST00000427802.2_Missense_Mutation_p.I196M	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	197	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAGTTCATTAATATCTACAA	0.289000													4	27					0	0	0.000602	0	0
TSTD2	158427	broad.mit.edu	37	9	100388271	100388271	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:100388271G>T	ENST00000341170.4	-	3	556	c.174C>A	c.(172-174)gcC>gcA	p.A58A	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	58										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TGACAAAAAGGGCAAAGGCCT	0.353000													6	6					5.9392e-07	6.24951e-07	0.001168	1	0
OBSCN	84033	broad.mit.edu	37	1	228467915	228467915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:228467915G>A	ENST00000570156.2	+	34	9060	c.8986G>A	c.(8986-8988)Gca>Aca	p.A2996T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A2567T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2567T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1414T|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1997	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACAGGATGCAGAGGCCAC	0.632000													11	60					0	0	0.013537	0	0
VARS2	57176	broad.mit.edu	37	6	30884903	30884903	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:30884903G>A	ENST00000321897.5	+	8	1407	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	VARS2_ENST00000416670.2_Missense_Mutation_p.E259K|VARS2_ENST00000541562.1_Missense_Mutation_p.E289K|VARS2_ENST00000542001.1_Missense_Mutation_p.E119K			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	259					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGCTGTGACTGAAGCTTTTGT	0.547000													43	37					0	0	0.011902	0	0
CPB2	1361	broad.mit.edu	37	13	46661885	46661885	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:46661885A>G	ENST00000181383.4	-	2	161	c.145T>C	c.(145-147)Tat>Cat	p.Y49H	CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.Y49H|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	49					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATTACCTCATATGTTGTAGTA	0.373000													42	56					0	0	0.014410	0	0
RBP3	5949	broad.mit.edu	37	10	48389782	48389782	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:48389782C>T	ENST00000224600.4	-	1	1209	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	366	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCAGATCTTCCTCGGAGACC	0.627000													15	31					0	0	0.002450	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003938	34003938	+	Silent	SNP	T	T	C	rs61750219		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:34003938T>C	ENST00000382491.3	-	28	4072	c.3948A>G	c.(3946-3948)caA>caG	p.Q1316Q	SYNJ1_ENST00000433931.2_Silent_p.Q1402Q|SYNJ1_ENST00000322229.7_Silent_p.Q1363Q|SYNJ1_ENST00000382499.2_3'UTR|SYNJ1_ENST00000357345.3_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1363	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAACATTACTTTGCGTTGCAG	0.448000													28	29					0	0	0.013726	0	0
TNPO2	30000	broad.mit.edu	37	19	12825962	12825962	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:12825962C>T	ENST00000425528.1	-	9	1027	c.670G>A	c.(670-672)Gat>Aat	p.D224N	TNPO2_ENST00000450764.2_Missense_Mutation_p.D224N|TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Missense_Mutation_p.D224N|TNPO2_ENST00000588216.1_Missense_Mutation_p.D224N|TNPO2_ENST00000356861.5_Missense_Mutation_p.D224N|TNPO2_ENST00000592287.1_Missense_Mutation_p.D224N			O14787	TNPO2_HUMAN	transportin 2	224					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGTCATCATCCACAGCCAGG	0.622000													18	27					0	0	0.002780	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637803	23637803	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:23637803T>C	ENST00000478691.1	-	9	1157	c.886A>G	c.(886-888)Atg>Gtg	p.M296V	HNRNPR_ENST00000606561.1_Missense_Mutation_p.M255V|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Missense_Mutation_p.M394V|HNRNPR_ENST00000374616.3_Missense_Mutation_p.M397V|HNRNPR_ENST00000427764.2_Missense_Mutation_p.M356V|HNRNPR_ENST00000302271.6_Missense_Mutation_p.M394V|HNRNPR_ENST00000426846.2_Missense_Mutation_p.M234V	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	394	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTGCCATTCATTTCATCCATA	0.328000													3	23					0	0	0.004672	0	0
FGFR2	2263	broad.mit.edu	37	10	123258016	123258016	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:123258016T>C	ENST00000358487.5	-	12	1937	c.1665A>G	c.(1663-1665)acA>acG	p.T555T	FGFR2_ENST00000369061.4_Silent_p.T443T|FGFR2_ENST00000360144.3_Silent_p.T467T|FGFR2_ENST00000369059.1_Silent_p.T441T|FGFR2_ENST00000478859.1_Silent_p.T327T|FGFR2_ENST00000346997.2_Silent_p.T553T|FGFR2_ENST00000369056.1_Silent_p.T556T|FGFR2_ENST00000457416.2_Silent_p.T556T|FGFR2_ENST00000369060.4_Silent_p.T439T|FGFR2_ENST00000357555.5_Silent_p.T466T|FGFR2_ENST00000351936.6_Silent_p.T553T|FGFR2_ENST00000356226.4_Silent_p.T438T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	555	Protein kinase.				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)	CACCATCCTGTGTGCAGGCTC	0.438000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	43					0	0	0.000602	0	0
NPEPPS	9520	broad.mit.edu	37	17	45689897	45689897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:45689897G>A	ENST00000322157.4	+	18	2404	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	RP11-580I16.2_ENST00000582389.1_RNA|RP11-580I16.2_ENST00000582066.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E643K|NPEPPS_ENST00000530173.1_Missense_Mutation_p.E719K	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	723					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGCAACGTTAGAAGAAGCCCG	0.458000													16	55					0	0	0.004990	0	0
NMUR2	56923	broad.mit.edu	37	5	151784387	151784387	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:151784387G>T	ENST00000255262.3	-	1	453	c.288C>A	c.(286-288)ctC>ctA	p.L96L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	96					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCATTCCAAGGAGCAGGACCA	0.577000													33	65					1.90571e-15	2.05778e-15	0.004289	1	0
SAMD13	148418	broad.mit.edu	37	1	84791366	84791366	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:84791366A>G	ENST00000370673.3	+	3	334	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	SAMD13_ENST00000370668.3_Missense_Mutation_p.M34V|SAMD13_ENST00000370670.2_Missense_Mutation_p.M34V|SAMD13_ENST00000370671.3_Missense_Mutation_p.M54V|SAMD13_ENST00000370669.1_Missense_Mutation_p.M34V|SAMD13_ENST00000394834.3_Missense_Mutation_p.M34V	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	54										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTGGGCCGTGATGGATGTCGT	0.488000													27	39					0	0	0.004656	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390236	208390236	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:208390236C>T	ENST00000367033.3	-	2	1789	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	344	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGATACTGCTTCTGCCCTT	0.592000													20	30					0	0	0.008871	0	0
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:57181659T>C	ENST00000262294.7	-	2	377	c.118A>G	c.(118-120)Att>Gtt	p.I40V	TRIM37_ENST00000584889.1_Missense_Mutation_p.I40V|TRIM37_ENST00000393066.3_Missense_Mutation_p.I40V|TRIM37_ENST00000393065.2_Intron|TRIM37_ENST00000376149.3_5'UTR	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	40						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353000									Mulibrey Nanism				8	26					0	0	0.004482	0	0
TMCO1	54499	broad.mit.edu	37	1	165738104	165738104	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:165738104C>G	ENST00000367881.5	-	1	313	c.38G>C	c.(37-39)aGa>aCa	p.R13T	TMCO1_ENST00000392129.6_5'UTR|TMCO1_ENST00000580248.1_Intron|TMCO1_ENST00000464650.1_5'UTR			Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	0						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGACCAACTCTGACAGCCCG	0.592000													3	3					0	0	0.004672	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								29	24					0	0	0.007291	0	0
FRMD4A	55691	broad.mit.edu	37	10	13782239	13782239	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:13782239G>A	ENST00000357447.2	-	11	995	c.627C>T	c.(625-627)atC>atT	p.I209I	RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000342409.2_Silent_p.I225I|FRMD4A_ENST00000378503.1_Silent_p.I209I|FRMD4A_ENST00000358621.4_Silent_p.I194I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	209	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAGACTCCACGATGCTCATGT	0.423000													17	56					0	0	0.004990	0	0
CLCA4	22802	broad.mit.edu	37	1	87029431	87029431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:87029431C>T	ENST00000370563.3	+	4	578	c.536C>T	c.(535-537)tCa>tTa	p.S179L	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGTGCTAAGTCAAAAAAAATC	0.403000													5	38					0	0	0.000602	0	0
APBB3	10307	broad.mit.edu	37	5	139938224	139938224	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:139938224G>C	ENST00000357560.4	-	13	1850	c.1407C>G	c.(1405-1407)gtC>gtG	p.V469V	APBB3_ENST00000354402.5_Silent_p.V476V|APBB3_ENST00000508496.2_Silent_p.V246V|APBB3_ENST00000356738.2_Silent_p.V474V|APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Silent_p.V467V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	469						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGACACCCCGCT	0.597000													41	66					0	0	0.006999	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591246	56591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:56591246G>A	ENST00000338222.5	+	1	1221	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	314						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGAAAATCGCGATCCACTACC	0.567000													27	20					0	0	0.005443	0	0
MTUS1	57509	broad.mit.edu	37	8	17612302	17612302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:17612302C>T	ENST00000381869.3	-	2	1488	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	MTUS1_ENST00000262102.6_Missense_Mutation_p.E339K|MTUS1_ENST00000381862.3_Missense_Mutation_p.E339K|MTUS1_ENST00000519263.1_Missense_Mutation_p.E339K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	339						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GACACTGTCTCTCTCAGATTT	0.423000													28	42					0	0	0.004656	0	0
PPM1H	57460	broad.mit.edu	37	12	63195923	63195923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:63195923G>A	ENST00000228705.6	-	3	729	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	143	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AATAGTGGCAGGAAACACCCT	0.617000													3	24					0	0	0.009096	0	0
PANX2	56666	broad.mit.edu	37	22	50609337	50609337	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50609337C>T	ENST00000395842.2	+	1	178	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	PANX2_ENST00000159647.5_Silent_p.L60L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	60					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGGCACCGTGCTGGTGCCCAT	0.731000													4	12					0	0	0.000602	0	0
OTOF	9381	broad.mit.edu	37	2	26739468	26739468	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:26739468C>G	ENST00000272371.2	-	5	454		c.e5-1		OTOF_ENST00000403946.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGCTGGTCTGAAGGGAGG	0.602000													10	82					0	0	0.006214	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115352	54115352	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54115352C>T	ENST00000548263.1	-	6	705	c.657G>A	c.(655-657)ctG>ctA	p.L219L	CALCOCO1_ENST00000430117.2_Silent_p.L186L|CALCOCO1_ENST00000550804.1_Silent_p.L219L|CALCOCO1_ENST00000262059.4_Silent_p.L219L			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	219					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTGCCGGCTCAGGATGTCCC	0.537000													138	260					0	0	0.014410	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220723	20220723	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220723G>A	ENST00000361479.5	+	3	578	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MPHOSPH8_ENST00000414242.2_Silent_p.K170K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	170	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATCTGAAAAAGAAAAAAGCAA	0.378000													6	33					0	0	0.001984	0	0
MEIS1	4211	broad.mit.edu	37	2	66664922	66664922	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:66664922G>A	ENST00000488550.1	+	2	365	c.66G>A	c.(64-66)acG>acA	p.T22T	MEIS1_ENST00000560281.2_Silent_p.T22T|MEIS1_ENST00000398506.2_Silent_p.T20T|MEIS1_ENST00000407092.2_Silent_p.T22T|MEIS1_ENST00000272369.9_Silent_p.T22T			O00470	MEIS1_HUMAN	Meis homeobox 1	22							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCCCCTCCACGATGTATGGGG	0.602000													14	37					0	0	0.004007	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161760	57161760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57161760G>A	ENST00000371244.4	+	6	782	c.716G>A	c.(715-717)cGt>cAt	p.R239H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TATCTCAATCGTTCTGTCGCC	0.433000													116	132					0	0	0.014410	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547047	37547047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:37547047T>C	ENST00000299824.1	+	11	1631	c.1442T>C	c.(1441-1443)cTg>cCg	p.L481P	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.L439P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	481					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGACGCTTCTGGAGCTGAAG	0.647000													31	50					0	0	0.010818	0	0
SALL4	57167	broad.mit.edu	37	20	50400861	50400861	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:50400861G>C	ENST00000217086.4	-	4	3216	c.3105C>G	c.(3103-3105)ggC>ggG	p.G1035G	SALL4_ENST00000371539.3_Silent_p.G258G|SALL4_ENST00000395997.3_Silent_p.G598G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1035					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGGGAACGCCGTCAGTAG	0.517000													21	80					0	0	0.014323	0	0
SMYD1	150572	broad.mit.edu	37	2	88402598	88402598	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:88402598G>A	ENST00000419482.2	+	7	995	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Missense_Mutation_p.E291K	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGTGGTGAAGGAGATGATACA	0.443000													25	49					0	0	0.005443	0	0
FOXA1	3169	broad.mit.edu	37	14	38061866	38061866	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:38061866C>T	ENST00000250448.2	-	2	184	c.123G>A	c.(121-123)atG>atA	p.M41I	FOXA1_ENST00000540786.1_Missense_Mutation_p.M8I|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	41					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGGAGTTCATGGAGCCCA	0.597000													9	60					0	0	0.006214	0	0
FLAD1	80308	broad.mit.edu	37	1	154962650	154962650	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:154962650T>A	ENST00000405236.2	+	2	836	c.836T>A	c.(835-837)tTc>tAc	p.F279Y	FLAD1_ENST00000292180.3_Silent_p.V427V|FLAD1_ENST00000368432.1_Silent_p.V330V|FLAD1_ENST00000315144.10_Silent_p.V330V|FLAD1_ENST00000295530.2_Missense_Mutation_p.F111Y|FLAD1_ENST00000368433.1_Silent_p.V427V|FLAD1_ENST00000368428.1_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACCTGATGTTCCAAACCCCC	0.532000													106	209					0	0	0.014410	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338755	5338755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:5338755G>A	ENST00000396872.3	+	8	1180	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R340K|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R326K			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCACCTTCAGAGGTGAGTGC	0.721000													7	20					0	0	0.003080	0	0
TSEN54	283989	broad.mit.edu	37	17	73515107	73515107	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:73515107T>C	ENST00000333213.6	+	6	536	c.500T>C	c.(499-501)gTg>gCg	p.V167A	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	167					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGTTATGTGGTTCGACGA	0.453000													43	72					0	0	0.014410	0	0
HSPA2	3306	broad.mit.edu	37	14	65008648	65008648	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:65008648G>C	ENST00000247207.6	+	1	1463	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	HSPA2_ENST00000394709.1_Missense_Mutation_p.E361Q	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	361					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAACGGCAAGGAGCTGAACAA	0.602000													15	42					0	0	0.003163	0	0
CRBN	51185	broad.mit.edu	37	3	3194143	3194143	+	Missense_Mutation	SNP	G	G	C	rs146272907		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:3194143G>C	ENST00000231948.4	-	10	1167	c.1145C>G	c.(1144-1146)cCt>cGt	p.P382R	CRBN_ENST00000432408.2_Missense_Mutation_p.P381R	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	382	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ATATTACCCAGGAAACCAGCT	0.393000													22	37					0	0	0.014323	0	0
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642000													36	64					0	0	0.004289	0	0
SLC11A2	4891	broad.mit.edu	37	12	51384657	51384657	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:51384657A>G	ENST00000394904.3	-	15	1632	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A	SLC11A2_ENST00000262052.5_Missense_Mutation_p.V499A|SLC11A2_ENST00000547198.1_Missense_Mutation_p.V499A|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V499A|SLC11A2_ENST00000262051.7_Missense_Mutation_p.V499A|SLC11A2_ENST00000546743.1_Missense_Mutation_p.V420A|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V495A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V528A	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	499					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TAGGTCCCGGACATAAACCAC	0.478000													20	38					0	0	0.008871	0	0
MYCN	4613	broad.mit.edu	37	2	16082291	16082291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:16082291C>T	ENST00000281043.3	+	2	402	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	35					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAGATGACTTCTACTTCGGCG	0.647000			A		neuroblastoma								16	36					0	0	0.006122	0	0
RGS14	10636	broad.mit.edu	37	5	176798587	176798587	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:176798587G>A	ENST00000408923.3	+	14	1683	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	499	GoLoco.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGACATCGAAGGTACATG	0.587000													40	58					0	0	0.006230	0	0
KCNT2	343450	broad.mit.edu	37	1	196342326	196342326	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:196342326A>G	ENST00000367433.5	-	14	1448	c.1347T>C	c.(1345-1347)tgT>tgC	p.C449C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Silent_p.C60C|KCNT2_ENST00000367431.4_Silent_p.C449C|KCNT2_ENST00000294725.9_Silent_p.C449C|KCNT2_ENST00000609185.1_Silent_p.C449C	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	449	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGGGCATATACAGTTTAAAG	0.294000													22	45					0	0	0.003954	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853103	53853103	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:53853103C>T	ENST00000331251.3	+	1	2113	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	212					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGCTGGGCTTCGCCATCCCCG	0.682000													7	10					0	0	0.001984	0	0
F2R	2149	broad.mit.edu	37	5	76028967	76028967	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:76028967G>T	ENST00000319211.4	+	2	1182	c.917G>T	c.(916-918)aGc>aTc	p.S306I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	306					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GCCAACCGCAGCAAGAAGTCC	0.488000													28	31					1.17739e-12	1.26819e-12	0.005443	1	0
CEP290	80184	broad.mit.edu	37	12	88482816	88482816	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:88482816G>C	ENST00000552810.1	-	31	4365	c.4022C>G	c.(4021-4023)gCc>gGc	p.A1341G	CEP290_ENST00000397838.3_Missense_Mutation_p.A401G|CEP290_ENST00000547691.2_Missense_Mutation_p.A401G|CEP290_ENST00000309041.7_Missense_Mutation_p.A1343G	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1341					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TACCTTTTGGGCTCCTTTGGT	0.358000													16	29					0	0	0.004990	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212781	21212781	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:21212781A>G	ENST00000602326.1	-	17	2770	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	EIF4G3_ENST00000400422.1_Silent_p.D723D|EIF4G3_ENST00000374937.3_Silent_p.D729D|EIF4G3_ENST00000264211.8_Silent_p.D723D|EIF4G3_ENST00000374935.3_Silent_p.D443D|EIF4G3_ENST00000537738.1_Silent_p.D213D|EIF4G3_ENST00000536266.1_Silent_p.D327D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	723	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCAGGTGTACATCTTCTTTTA	0.423000													34	139					0	0	0.012213	0	0
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:51791720C>G	ENST00000251076.5	-	18	3988	c.3701G>C	c.(3700-3702)aGa>aCa	p.R1234T	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428000													16	40					0	0	0.003163	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24963676	24963676	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:24963676T>C	ENST00000289968.6	-	12	1049	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.Y327C|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	327	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTCCCGTAAATAGGATTTTAA	0.333000													13	24					0	0	0.003163	0	0
ZNF521	25925	broad.mit.edu	37	18	22805190	22805190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:22805190C>A	ENST00000361524.3	-	4	2840	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E678*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E898*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	898					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)					AGCAAAGTTTCCATAGTGTAG	0.502000			T	PAX5	ALL								29	35					1.75199e-13	1.88944e-13	0.007291	1	0
GBP5	115362	broad.mit.edu	37	1	89734510	89734510	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:89734510G>A	ENST00000343435.5	-	4	756	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	GBP5_ENST00000370459.3_Missense_Mutation_p.H74Y|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	74						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCCTTGGTGTGAGACTGCACC	0.488000													18	46					0	0	0.008871	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32908579	32908579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:32908579G>A	ENST00000416244.2	-	1	200	c.6C>T	c.(4-6)atC>atT	p.I2I	HLA-DMB_ENST00000418107.2_Silent_p.I2I|XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.I34I			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	2					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGAATGTGATCATGCTCT	0.622000													3	6					0	0	0.004672	0	0
LRRK2	120892	broad.mit.edu	37	12	40748212	40748212	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:40748212G>A	ENST00000298910.7	+	45	6746	c.6688G>A	c.(6688-6690)Gaa>Aaa	p.E2230K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2230					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATCAATACCGAAGATGGGAA	0.408000													8	23					0	0	0.003080	0	0
GALR3	8484	broad.mit.edu	37	22	38220829	38220829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:38220829C>G	ENST00000249041.2	+	2	484	c.459C>G	c.(457-459)ttC>ttG	p.F153L		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	153					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CGGCGCTCTTCTCGGCGCCCT	0.771000													4	11					0	0	0.000602	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551310	232551310	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:232551310C>T	ENST00000366630.1	-	18	5050	c.4692G>A	c.(4690-4692)ctG>ctA	p.L1564L	SIPA1L2_ENST00000308942.4_Silent_p.L638L|SIPA1L2_ENST00000262861.4_Silent_p.L1564L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1564					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGGGGCATCAGGCCAGGAT	0.537000													41	92					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69104737	69104737	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:69104737C>T	ENST00000288368.4	+	37	4858	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1527					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCACATCATCATGTGCAGCA	0.522000													20	15					0	0	0.008361	0	0
NF1	4763	broad.mit.edu	37	17	29679408	29679408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:29679408C>T	ENST00000358273.4	+	51	7974	c.7591C>T	c.(7591-7593)Cag>Tag	p.Q2531*	NF1_ENST00000444181.2_Nonsense_Mutation_p.Q324*|NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2510*|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2531					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAACCTTCTCAGGCCAACAC	0.393000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	29					0	0	0.004482	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107461	6107461	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:6107461G>A	ENST00000409021.3	-	3	812	c.363C>T	c.(361-363)cgC>cgT	p.R121R	JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.R121R|JAKMIP1_ENST00000282924.5_Silent_p.R121R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	121	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCGCCGTCGCGCAGCACGT	0.726000													6	11					0	0	0.001984	0	0
GALM	130589	broad.mit.edu	37	2	38956810	38956810	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:38956810G>A	ENST00000272252.5	+	5	999	c.747G>A	c.(745-747)aaG>aaA	p.K249K	GALM_ENST00000410063.1_Silent_p.K101K	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	249					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCTGTCTGAAGGGATCTAAAG	0.438000													29	74					0	0	0.008361	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29419397	29419397	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:29419397C>G	ENST00000283351.4	-	27	4196	c.3861G>C	c.(3859-3861)ttG>ttC	p.L1287F	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.L1233F	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1287					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAAAATTTCAATAGTTCCA	0.328000													13	44					0	0	0.001855	0	0
PCDHA10	56139	broad.mit.edu	37	5	140237513	140237513	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:140237513C>T	ENST00000307360.5	+	1	1880	c.1880C>T	c.(1879-1881)aCg>aTg	p.T627M	PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018901.2	NP_061724.1														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)			GGGCTGTACACGGGCGAGATC	0.647000													15	3					0	0	0.003163	0	0
NRG1	3084	broad.mit.edu	37	8	32463142	32463142	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:32463142T>C	ENST00000341377.5	+	3	858	c.341T>C	c.(340-342)gTg>gCg	p.V114A	NRG1_ENST00000520407.1_Missense_Mutation_p.V329A|NRG1_ENST00000519301.1_Missense_Mutation_p.V93A|NRG1_ENST00000405005.3_Missense_Mutation_p.V114A|NRG1_ENST00000287845.5_Missense_Mutation_p.V114A|NRG1_ENST00000523079.1_Missense_Mutation_p.V114A|NRG1_ENST00000356819.4_Missense_Mutation_p.V114A|NRG1_ENST00000338921.4_Missense_Mutation_p.V114A|NRG1_ENST00000521670.1_Missense_Mutation_p.V114A|NRG1_ENST00000287842.3_Missense_Mutation_p.V114A	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	114	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGTGCAAAGTGATCAGCAAA	0.408000													21	35					0	0	0.002780	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411211	121411211	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:121411211C>T	ENST00000393667.3	-	14	7110	c.7000G>A	c.(7000-7002)Gaa>Aaa	p.E2334K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2329K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2329					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACATTTTTCTAAAGAGTTA	0.373000													29	156					0	0	0.010818	0	0
CTSL3P	392360	broad.mit.edu	37	9	90401697	90401697	+	RNA	SNP	C	C	T	rs139694812	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:90401697C>T	ENST00000354530.2	+	0	555					NR_027917.1																						GTCATCTTATCGAGGAGGCTC	0.468000													40	44					0	0	0.009718	0	0
GRIK1	2897	broad.mit.edu	37	21	30959910	30959910	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:30959910C>G	ENST00000399914.1	-	11	2046		c.e11-1		GRIK1_ENST00000535441.1_Splice_Site|GRIK1_ENST00000309434.7_Splice_Site|GRIK1_ENST00000399913.1_Splice_Site|GRIK1_ENST00000389124.2_Splice_Site|GRIK1_ENST00000327783.4_Splice_Site|GRIK1_ENST00000399909.1_Splice_Site|GRIK1_ENST00000399907.1_Splice_Site|GRIK1_ENST00000389125.3_Splice_Site			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTCAGCCCTCTGCAAAAGCA	0.453000													8	15					0	0	0.003080	0	0
FREM2	341640	broad.mit.edu	37	13	39262253	39262253	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:39262253G>A	ENST00000280481.7	+	1	988	c.772G>A	c.(772-774)Gct>Act	p.A258T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	258					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGACTGCAAAGCTTTCCAGGA	0.642000													19	79					0	0	0.012319	0	0
ROS1	6098	broad.mit.edu	37	6	117631384	117631384	+	Silent	SNP	C	C	A	rs148504976		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:117631384C>A	ENST00000368508.3	-	40	6492	c.6294G>T	c.(6292-6294)gtG>gtT	p.V2098V	ROS1_ENST00000368507.3_Silent_p.V2092V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2098	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V2098V(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTCCAATCTTCACTATCCGTG	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								45	37					1.51943e-15	1.64273e-15	0.014410	1	0
PRKAA2	5563	broad.mit.edu	37	1	57169763	57169763	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:57169763C>T	ENST00000371244.4	+	7	974	c.908C>T	c.(907-909)aCa>aTa	p.T303I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	303					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTTGAATGTACAGAATCAGAA	0.383000													43	61					0	0	0.011902	0	0
ATP2B2	491	broad.mit.edu	37	3	10420033	10420033	+	Silent	SNP	G	G	A	rs147871544		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:10420033G>A	ENST00000397077.1	-	9	1544	c.969C>T	c.(967-969)ggC>ggT	p.G323G	ATP2B2_ENST00000352432.4_Silent_p.G368G|ATP2B2_ENST00000360273.2_Silent_p.G368G|ATP2B2_ENST00000343816.4_Silent_p.G354G|ATP2B2_ENST00000383800.4_Silent_p.G323G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	368					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCAGCGTCGCCGCCCTCGG	0.627000													50	72					0	0	0.014410	0	0
PCSK9	255738	broad.mit.edu	37	1	55523773	55523773	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:55523773G>A	ENST00000302118.5	+	8	1535	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	PCSK9_ENST00000543384.1_Silent_p.L215L|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	415	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGCAGAGACTGATCCACTTCT	0.617000													27	41					0	0	0.005443	0	0
FAM212B	55924	broad.mit.edu	37	1	112281828	112281828	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:112281828G>A	ENST00000357260.5	-	1	218	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	FAM212B_ENST00000444059.2_Intron|FAM212B_ENST00000534365.1_Missense_Mutation_p.R13C	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	13										cervix(1)|endometrium(1)	2						TTGAGGCGACGGAGATAGCAG	0.672000													10	21					0	0	0.008291	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640360	74640360	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:74640360G>A	ENST00000268053.6	-	2	460	c.306C>T	c.(304-306)atC>atT	p.I102I	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000419019.2_Intron|CYP11A1_ENST00000541301.1_Silent_p.I102I	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	102					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTTCAGGGTCGATGACATAAA	0.582000													15	31					0	0	0.008871	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96559469	96559469	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:96559469G>A	ENST00000420871.2	-	34	1680	c.410C>T	c.(409-411)tCt>tTt	p.S137F	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000456556.1_Intron|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.S307F					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTTCTGAGAAGACACTGAAAA	0.333000													6	15					0	0	0.001984	0	0
ZNF226	7769	broad.mit.edu	37	19	44680458	44680458	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:44680458C>T	ENST00000590089.1	+	7	1410	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.S348L|ZNF226_ENST00000337433.5_Missense_Mutation_p.S348L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCGTAGATCAGCACTTAAT	0.468000													43	28					0	0	0.009718	0	0
PFKFB1	5207	broad.mit.edu	37	X	54959877	54959877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:54959877C>T	ENST00000375006.3	-	14	1445	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E259K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E394K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	459	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCCTCAGGTTCCCGGGTGATG	0.552000													27	16					0	0	0.004656	0	0
RAP2A	5911	broad.mit.edu	37	13	98086808	98086808	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:98086808C>T	ENST00000245304.4	+	1	333	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	28					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CCGGCACCTTCATCGAGAAAT	0.647000													33	105					0	0	0.013726	0	0
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:248367166G>T	ENST00000456743.1	+	1	835	c.797G>T	c.(796-798)cGc>cTc	p.R266L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502000													58	110					3.74213e-36	4.08146e-36	0.014410	1	0
PPP3CA	5530	broad.mit.edu	37	4	101947192	101947192	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:101947192T>C	ENST00000394854.3	-	14	2079	c.1396A>G	c.(1396-1398)Aag>Gag	p.K466E	PPP3CA_ENST00000323055.6_Missense_Mutation_p.K414E|PPP3CA_ENST00000523694.2_Missense_Mutation_p.K399E|PPP3CA_ENST00000394853.4_Missense_Mutation_p.K456E|PPP3CA_ENST00000507176.1_Missense_Mutation_p.K368E|PPP3CA_ENST00000512215.1_Missense_Mutation_p.K234E	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	466	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTAGTGATCTTATGTTGTGGT	0.443000													14	42					0	0	0.004007	0	0
MKNK1	8569	broad.mit.edu	37	1	47024330	47024330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:47024330G>A	ENST00000371946.4	-	14	1478	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	MKNK1_ENST00000371945.4_Missense_Mutation_p.P398S|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.P303S	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	439					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GACTTGCAGGGAGGGGAAAGC	0.622000													5	37					0	0	0.001984	0	0
EPHA2	1969	broad.mit.edu	37	1	16464519	16464519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:16464519C>T	ENST00000358432.5	-	5	1295	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	381	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CGCACACTGGCCTCACACGGC	0.657000													14	15					0	0	0.001855	0	0
MID2	11043	broad.mit.edu	37	X	107084505	107084505	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:107084505A>G	ENST00000262843.6	+	2	1158	c.610A>G	c.(610-612)Aac>Gac	p.N204D	MID2_ENST00000443968.2_Missense_Mutation_p.N204D	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	204						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGAGAAAGTGAACATGTACTG	0.507000													25	39					0	0	0.003330	0	0
TPTE	7179	broad.mit.edu	37	21	10934121	10934121	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:10934121C>G	ENST00000298232.7	-	15	1170		c.e15-1		TPTE_ENST00000361285.4_Splice_Site|TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTCTTTCACCTAAAATAAAT	0.299000													22	163					0	0	0.002780	0	0
GIGYF2	26058	broad.mit.edu	37	2	233626135	233626135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:233626135G>A	ENST00000373566.3	+	8	718	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	GIGYF2_ENST00000373563.4_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R174Q|AC064852.4_ENST00000427571.1_RNA			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	174	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAACCAGGACGAAAAGATGTA	0.378000													14	28					0	0	0.004990	0	0
OPA1	4976	broad.mit.edu	37	3	193372785	193372785	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:193372785C>T	ENST00000361510.2	+	22	2381	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	OPA1_ENST00000392438.3_Missense_Mutation_p.T661I|OPA1_ENST00000361150.2_Missense_Mutation_p.T662I|OPA1_ENST00000361715.2_Missense_Mutation_p.T680I|OPA1_ENST00000361908.3_Missense_Mutation_p.T698I|OPA1_ENST00000361828.2_Missense_Mutation_p.T679I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	661					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAACAGTGGACTGATAAACAA	0.368000													14	27					0	0	0.008871	0	0
KRT3	3850	broad.mit.edu	37	12	53186528	53186528	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:53186528A>G	ENST00000417996.2	-	4	1064	c.990T>C	c.(988-990)gaT>gaC	p.D330D	KRT3_ENST00000309505.3_Silent_p.D330D	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	330	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGTCGATCTCATCTATCAAGG	0.473000													70	154					0	0	0.014410	0	0
PCDH1	5097	broad.mit.edu	37	5	141244801	141244801	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:141244801G>A	ENST00000287008.3	-	3	1242	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.N353N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.N343N|PCDH1_ENST00000394536.3_Silent_p.N365N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	365	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACTCTTGGGGTTGGTGCCTC	0.577000													19	104					0	0	0.014323	0	0
OR10K1	391109	broad.mit.edu	37	1	158435526	158435526	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158435526A>T	ENST00000289451.2	+	1	255	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCATACTCCCATGTACTTCTT	0.473000													43	131					0	0	0.013114	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446773	102446773	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:102446773C>A	ENST00000360184.4	+	5	1011	c.847C>A	c.(847-849)Cgt>Agt	p.R283S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	283	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACTTGGAACGTGCGTTATA	0.468000													4	35					0.00024832	0.000259091	0.009096	1	0
TRIM41	90933	broad.mit.edu	37	5	180660709	180660709	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:180660709C>T	ENST00000315073.5	+	5	1947	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	TRIM41_ENST00000351937.5_Silent_p.L413L|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	413	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATGACTTCCTGACAGATGC	0.602000													15	51					0	0	0.004007	0	0
PTPN12	5782	broad.mit.edu	37	7	77230076	77230076	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:77230076G>A	ENST00000248594.6	+	8	920	c.648G>A	c.(646-648)atG>atA	p.M216I	PTPN12_ENST00000435495.2_Missense_Mutation_p.M86I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M97I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	216	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TAAGCTTAATGAGGAAATATC	0.328000													3	25					0	0	0.004672	0	0
SEC23IP	11196	broad.mit.edu	37	10	121652347	121652347	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:121652347C>T	ENST00000369075.3	+	1	125	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	18	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTTCCTCATCGGGCACTAAC	0.627000													8	25					0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21639522	21639522	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:21639522T>A	ENST00000328843.6	+	15	2816	c.2785T>A	c.(2785-2787)Ttc>Atc	p.F929I	DNAH11_ENST00000409508.3_Missense_Mutation_p.F929I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGACTTAGACTTCTTTCTGAA	0.398000									Kartagener syndrome				5	32					0	0	0.000602	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460633	5460633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:5460633G>A	ENST00000296564.7	+	13	1408	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	396										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCAGAAGATGATACAACTGA	0.373000													4	6					0	0	0.009096	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204418	11204418	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:11204418T>C	ENST00000337414.4	-	5	2083	c.1211A>G	c.(1210-1212)aAt>aGt	p.N404S	ARHGAP6_ENST00000380718.1_Missense_Mutation_p.N404S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.N436S|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.N201S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.N229S|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.N213S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.N201S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	404	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTAAATAGGATTCAGACTGAG	0.428000													110	84					0	0	0.014410	0	0
HIPK3	10114	broad.mit.edu	37	11	33361046	33361046	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:33361046A>G	ENST00000303296.4	+	6	1884	c.1579A>G	c.(1579-1581)Atg>Gtg	p.M527V	HIPK3_ENST00000456517.1_Missense_Mutation_p.M527V|HIPK3_ENST00000525975.1_Missense_Mutation_p.M527V|HIPK3_ENST00000379016.3_Missense_Mutation_p.M527V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	527					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTTGTTAATATGAAACATCT	0.323000													22	88					0	0	0.004656	0	0
ATAD3A	55210	broad.mit.edu	37	1	1451459	1451459	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:1451459C>G	ENST00000378755.5	+	2	367	c.273C>G	c.(271-273)tcC>tcG	p.S91S	ATAD3A_ENST00000536055.1_Silent_p.S12S|ATAD3A_ENST00000378756.3_Silent_p.S91S	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	91							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AGCAACAGTCCAAGCTCAAAG	0.632000													13	26					0	0	0.002450	0	0
PLCB3	5331	broad.mit.edu	37	11	64023082	64023082	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:64023082C>T	ENST00000540288.1	+	7	694	c.591C>T	c.(589-591)ttC>ttT	p.F197F	PLCB3_ENST00000279230.6_Silent_p.F197F|PLCB3_ENST00000325234.5_Silent_p.F130F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	197					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCCTCAAATTCAACCGGGTGT	0.642000													29	37					0	0	0.010818	0	0
USH2A	7399	broad.mit.edu	37	1	216591900	216591900	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:216591900G>A	ENST00000366943.2	-	3	993	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	USH2A_ENST00000366942.3_Silent_p.L203L|USH2A_ENST00000307340.3_Silent_p.L203L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	203					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)		ATTCTCCCCAGTGTCATTACT	0.338000										HNSCC(13;0.011)			24	66					0	0	0.004656	0	0
SUOX	6821	broad.mit.edu	37	12	56396035	56396035	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:56396035C>T	ENST00000394109.3	+	1	754	c.30C>T	c.(28-30)ctC>ctT	p.L10L	SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Silent_p.L10L|SUOX_ENST00000551841.2_Silent_p.L10L|SUOX_ENST00000266971.3_Silent_p.L10L|SUOX_ENST00000548274.1_Silent_p.L10L|SUOX_ENST00000394115.2_Silent_p.L10L			P51687	SUOX_HUMAN	sulfite oxidase	10						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTGGTCCTCAGGCTCCAAC	0.547000													21	45					0	0	0.014323	0	0
LRP2	4036	broad.mit.edu	37	2	170175331	170175331	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:170175331G>C	ENST00000263816.3	-	3	536	c.251C>G	c.(250-252)tCc>tGc	p.S84C	LRP2_ENST00000443831.1_Missense_Mutation_p.S84C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	84	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACACCCAGGAGTTGGGGAT	0.468000													7	71					0	0	0.004482	0	0
CLASP2	23122	broad.mit.edu	37	3	33614729	33614729	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:33614729G>A	ENST00000399362.4	-	26	2949	c.2596C>T	c.(2596-2598)Cct>Tct	p.P866S	CLASP2_ENST00000539981.1_Missense_Mutation_p.P636S|CLASP2_ENST00000461133.3_Missense_Mutation_p.P625S|CLASP2_ENST00000468888.2_Missense_Mutation_p.P867S|CLASP2_ENST00000480013.1_Missense_Mutation_p.P646S|CLASP2_ENST00000359576.5_Missense_Mutation_p.P858S|CLASP2_ENST00000307312.7_Missense_Mutation_p.P347S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	867										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATATATGTAGGAATACTACCA	0.433000													70	135					0	0	0.014410	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70967593	70967593	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70967593G>T	ENST00000359655.4	+	14	1881	c.1821G>T	c.(1819-1821)tgG>tgT	p.W607C		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	607					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTTGCATGGTTACGCCGAT	0.443000													9	40					0.00829132	0.00857859	0.008291	1	0
ZSWIM8	23053	broad.mit.edu	37	10	75556602	75556602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:75556602C>T	ENST00000604729.1	+	16	3401	c.3104C>T	c.(3103-3105)tCt>tTt	p.S1035F	ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S997F|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1035F|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1030F|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S1030F					zinc finger, SWIM-type containing 8																		TTCTACTCATCTAGCCGCCCA	0.577000													14	72					0	0	0.002450	0	0
WNT9B	7484	broad.mit.edu	37	17	44954078	44954078	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:44954078G>A	ENST00000290015.2	+	4	1121	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	356					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACACCTGCAAGCACTAGGCCT	0.627000													12	31					0	0	0.010729	0	0
CNFN	84518	broad.mit.edu	37	19	42891312	42891312	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:42891312C>T	ENST00000222032.5	-	4	381	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	CNFN_ENST00000597255.1_Missense_Mutation_p.R111Q	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	111					keratinization	cornified envelope|cytoplasm				lung(1)|prostate(1)	2		Prostate(69;0.00899)				TCCTTACTCTCGGATCTTCAG	0.637000													18	16					0	0	0.010504	0	0
WDR91	29062	broad.mit.edu	37	7	134894412	134894412	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:134894412G>A	ENST00000354475.4	-	2	250	c.219C>T	c.(217-219)ttC>ttT	p.F73F	WDR91_ENST00000423565.1_Silent_p.F38F|WDR91_ENST00000344400.5_Silent_p.F73F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	73										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCAAGCGGCTGAAGAGCCGAC	0.493000													46	83					0	0	0.014410	0	0
ID1	3397	broad.mit.edu	37	20	30193214	30193214	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:30193214C>T	ENST00000376105.3	+	1	123	c.24C>T	c.(22-24)acC>acT	p.T8T	ID1_ENST00000376112.3_Silent_p.T8T	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	8					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTGGCAGCACCGCCACCGCCG	0.622000													14	29					0	0	0.006122	0	0
NLRP2	55655	broad.mit.edu	37	19	55493759	55493759	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:55493759A>G	ENST00000543010.1	+	6	836	c.693A>G	c.(691-693)gcA>gcG	p.A231A	NLRP2_ENST00000339757.7_Silent_p.A209A|NLRP2_ENST00000391721.4_Silent_p.A207A|NLRP2_ENST00000537859.1_Silent_p.A209A|NLRP2_ENST00000448584.2_Silent_p.A231A|NLRP2_ENST00000263437.6_Silent_p.A228A|NLRP2_ENST00000427260.2_Silent_p.A208A|NLRP2_ENST00000538819.1_Silent_p.A207A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	231	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TAGACTGGGCAGAGGACAACC	0.577000													29	17					0	0	0.009535	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849561	224849561	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:224849561C>T	ENST00000409840.3	-	6	1452	c.792G>A	c.(790-792)ccG>ccA	p.P264P	SERPINE2_ENST00000447280.2_Silent_p.P276P|SERPINE2_ENST00000258405.4_Silent_p.P264P|SERPINE2_ENST00000409304.1_Silent_p.P264P			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	264					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGCAGACAGCGGAGTGGAGC	0.537000													18	37					0	0	0.004990	0	0
RYR1	6261	broad.mit.edu	37	19	39068655	39068655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:39068655G>A	ENST00000355481.4	+	97	14386	c.14255G>A	c.(14254-14256)cGc>cAc	p.R4752H	RYR1_ENST00000360985.3_Missense_Mutation_p.R4752H|RYR1_ENST00000359596.3_Missense_Mutation_p.R4757H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4757					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACAATGAGCGCAAGCCCAAC	0.632000													14	27					0	0	0.004007	0	0
SVEP1	79987	broad.mit.edu	37	9	113205828	113205828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:113205828G>T	ENST00000401783.2	-	27	4972	c.4636C>A	c.(4636-4638)Cct>Act	p.P1546T	SVEP1_ENST00000302728.8_Missense_Mutation_p.P1546T|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1523T|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1546	Pentaxin.			P -> PGMF (in Ref. 1; CAF04067).	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACATACCAGGTATGGGCAAA	0.418000													7	6					0.000157383	0.000164606	0.003080	1	0
ALLC	55821	broad.mit.edu	37	2	3730543	3730543	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:3730543C>T	ENST00000252505.3	+	7	552	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	149							allantoicase activity	p.D130D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TAAAATCCGACGACTGGAGTT	0.428000										HNSCC(21;0.051)			30	96					0	0	0.008361	0	0
MYCBP2	23077	broad.mit.edu	37	13	77852999	77852999	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:77852999T>C	ENST00000407578.2	-	4	908	c.642A>G	c.(640-642)acA>acG	p.T214T	MYCBP2_ENST00000544440.2_Silent_p.T176T|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.T176T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGAAAATCGTGTCTCTTTGA	0.438000													16	29					0	0	0.006122	0	0
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:63672397C>T	ENST00000402010.2	+	16	2395	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000509502.2_Missense_Mutation_p.R572W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000502399.3_Missense_Mutation_p.R605W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	606					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647000													5	86					0	0	0.001168	0	0
C11orf82	220042	broad.mit.edu	37	11	82643785	82643785	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:82643785A>T	ENST00000533655.1	+	6	1617	c.1405A>T	c.(1405-1407)Act>Tct	p.T469S	C11orf82_ENST00000329143.3_Missense_Mutation_p.T168S|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.T469S|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	469					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAGAGAACTACTGGAGCCCT	0.403000													19	25					0	0	0.010504	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24470602	24470602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:24470602C>T	ENST00000335125.6	+	6	667	c.541C>T	c.(541-543)Cct>Tct	p.P181S	DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179S|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106S|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106S|DHRS4L2_ENST00000534993.1_Intron	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	119							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGGCTTCAGTCCTTACAATGT	0.478000													25	88					0	0	0.009535	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541624	38541624	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:38541624C>T	ENST00000332509.3	-	3	429	c.246G>A	c.(244-246)gtG>gtA	p.V82V	PLA2G6_ENST00000435484.1_3'UTR|PLA2G6_ENST00000436218.1_Silent_p.V82V|PLA2G6_ENST00000402064.1_Silent_p.V82V|PLA2G6_ENST00000417303.2_3'UTR|PLA2G6_ENST00000335539.3_Silent_p.V82V|PLA2G6_ENST00000447598.2_3'UTR	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	82					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GATGGAAATTCACTAGGGCGT	0.572000													15	36					0	0	0.007413	0	0
UBE4B	10277	broad.mit.edu	37	1	10211454	10211454	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:10211454A>G	ENST00000377157.3	+	20	3087	c.2026A>G	c.(2026-2028)Aac>Gac	p.N676D	UBE4B_ENST00000343090.6_Missense_Mutation_p.N921D|UBE4B_ENST00000253251.8_Missense_Mutation_p.N792D	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	921					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GATGTTGTGCAACCAGAACTA	0.458000													14	99					0	0	0.002450	0	0
FMNL1	752	broad.mit.edu	37	17	43318986	43318986	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:43318986G>C	ENST00000331495.3	+	14	1906	c.1570G>C	c.(1570-1572)Ggc>Cgc	p.G524R	CTD-2020K17.3_ENST00000587534.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.G524R|FMNL1_ENST00000587489.1_Missense_Mutation_p.G102R	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	524	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGTGCCGACCGGCTCCCCCAG	0.716000													4	5					0	0	0.001168	0	0
ARSK	153642	broad.mit.edu	37	5	94891054	94891054	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:94891054G>A	ENST00000380009.4	+	1	277	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ARSK_ENST00000504763.1_Silent_p.Q24Q	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	24						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAGGGGAGCAGAGGCGGAGAG	0.697000													6	20					0	0	0.001168	0	0
INO80D	54891	broad.mit.edu	37	2	206921331	206921331	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:206921331C>T	ENST00000403263.1	-	4	959	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	185					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTTTTAAAATCTCTGTCTCTC	0.498000													5	14					0	0	0.000602	0	0
TIAM2	26230	broad.mit.edu	37	6	155561805	155561805	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:155561805A>G	ENST00000461783.3	+	18	4583	c.3310A>G	c.(3310-3312)Atc>Gtc	p.I1104V	TIAM2_ENST00000456144.1_Missense_Mutation_p.I1104V|TIAM2_ENST00000367174.2_Missense_Mutation_p.I480V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I1104V|TIAM2_ENST00000456877.2_Missense_Mutation_p.I416V|TIAM2_ENST00000528391.2_Missense_Mutation_p.I440V|TIAM2_ENST00000275246.7_Missense_Mutation_p.I29V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I1128V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I1104V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1104	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGCAAAGTCATCCAGGAGCT	0.567000													16	24					0	0	0.008871	0	0
BTBD17	388419	broad.mit.edu	37	17	72352856	72352856	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:72352856G>T	ENST00000375366.3	-	3	1503	c.1377C>A	c.(1375-1377)gcC>gcA	p.A459A		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	459						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCAGGTGCAGGGCGTTCTCAA	0.647000													20	72					2.98393e-07	3.14748e-07	0.002780	1	0
PRG2	5553	broad.mit.edu	37	11	57156559	57156559	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:57156559T>G	ENST00000311862.5	-	3	363	c.290A>C	c.(289-291)aAa>aCa	p.K97T	PRG2_ENST00000533605.1_Missense_Mutation_p.K97T|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.K202T|PRG2_ENST00000525955.1_Missense_Mutation_p.K97T	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCACCACTTTTACTGTGTC	0.527000													20	99					0	0	0.010504	0	0
SULF2	55959	broad.mit.edu	37	20	46292924	46292924	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:46292924G>C	ENST00000359930.4	-	15	2858	c.2007C>G	c.(2005-2007)acC>acG	p.T669T	SULF2_ENST00000361612.4_Silent_p.T669T|SULF2_ENST00000484875.1_Silent_p.T669T|SULF2_ENST00000467815.1_Silent_p.T669T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	669					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTTTGTGCTGGGTGTGGTAGC	0.602000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	0.008291	0	0
MRPL39	54148	broad.mit.edu	37	21	26978900	26978900	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:26978900G>C	ENST00000307301.7	-	2	182	c.141C>G	c.(139-141)ctC>ctG	p.L47L	MRPL39_ENST00000352957.4_Silent_p.L47L	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	47						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CTTTATTAAAGAGATCATTCC	0.413000													7	48					0	0	0.003080	0	0
NHLH2	4808	broad.mit.edu	37	1	116380930	116380930	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:116380930C>G	ENST00000369506.1	-	1	5608	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	NHLH2_ENST00000320238.3_Missense_Mutation_p.E22Q			Q02577	HEN2_HUMAN	nescient helix loop helix 2	22					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCAGGGACTCCGGATCCGAG	0.657000													4	11					0	0	0.009096	0	0
MASP2	10747	broad.mit.edu	37	1	11097835	11097835	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:11097835T>G	ENST00000400897.3	-	7	938	c.923A>C	c.(922-924)aAt>aCt	p.N308T		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	308	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AACGTGGCCATTAGGTGGCGC	0.502000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68					0	0	0.002450	0	0
ZFP91	80829	broad.mit.edu	37	11	58384270	58384270	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:58384270C>A	ENST00000316059.6	+	10	1355	c.1184C>A	c.(1183-1185)aCt>aAt	p.T395N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.T395N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	395					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGATTCACACTGGCGAGAAG	0.423000													7	36					0.000274275	0.000285483	0.004482	1	0
NFKB1	4790	broad.mit.edu	37	4	103534637	103534637	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:103534637C>T	ENST00000226574.4	+	23	3115	c.2648C>T	c.(2647-2649)aCc>aTc	p.T883I	NFKB1_ENST00000394820.4_Missense_Mutation_p.T882I|NFKB1_ENST00000505458.1_Missense_Mutation_p.T882I|NFKB1_ENST00000600343.1_Missense_Mutation_p.T702I	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	882	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ATGGGCTACACCGAAGCAATT	0.562000													4	27					0	0	0.009096	0	0
ARID2	196528	broad.mit.edu	37	12	46287315	46287315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:46287315C>T	ENST00000334344.6	+	19	5432	c.5260C>T	c.(5260-5262)Cga>Tga	p.R1754*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1364*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.R362*|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1605*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1754					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTTGTCTTTCGAGATTTTAC	0.403000			"""N, S, F"""		hepatocellular carcinoma								26	36					0	0	0.005443	0	0
C14orf39	317761	broad.mit.edu	37	14	60945040	60945040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:60945040G>A	ENST00000321731.3	-	5	460	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	101										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACAGTTCCTTGATAAACAGTA	0.289000													12	27					0	0	0.003163	0	0
RBBP7	5931	broad.mit.edu	37	X	16864054	16864054	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:16864054T>A	ENST00000380087.2	-	11	1466	c.1106A>T	c.(1105-1107)cAt>cTt	p.H369L	RBBP7_ENST00000380084.4_Missense_Mutation_p.H413L|RBBP7_ENST00000404022.1_Missense_Mutation_p.H360L			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	369					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GTGTCCTCCATGAATAAACTG	0.363000													31	19					0	0	0.007291	0	0
CHPT1	56994	broad.mit.edu	37	12	102107950	102107950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:102107950G>A	ENST00000549872.1	+	2	546	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CHPT1_ENST00000550385.1_3'UTR|CHPT1_ENST00000229266.3_Missense_Mutation_p.R119K			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	119					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAACAAGCCAGAAGAACAAAC	0.378000													52	124					0	0	0.014410	0	0
TERF2	7014	broad.mit.edu	37	16	69419544	69419544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:69419544G>C	ENST00000254942.3	-	1	347	c.331C>G	c.(331-333)Cgg>Ggg	p.R111G	TERF2_ENST00000567296.2_Missense_Mutation_p.R111G|TERF2_ENST00000603068.1_Missense_Mutation_p.R69G	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	69	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CGGCTACCCCGAAAGGCCCGC	0.721000													3	23					0	0	0.009096	0	0
SMCHD1	23347	broad.mit.edu	37	18	2750410	2750410	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:2750410T>C	ENST00000320876.6	+	32	4408	c.4070T>C	c.(4069-4071)aTt>aCt	p.I1357T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I1357T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1357					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGACCTATAATTAAGTTAATG	0.383000													11	29					0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7578269	7578269	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7578269G>A	ENST00000420246.2	-	6	712	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.L194F|TP53_ENST00000445888.2_Missense_Mutation_p.L194F|TP53_ENST00000455263.2_Missense_Mutation_p.L194F|TP53_ENST00000359597.4_Missense_Mutation_p.L194F|TP53_ENST00000269305.4_Missense_Mutation_p.L194F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194F(17)|p.0?(8)|p.?(6)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.L194fs*52(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACTCGGATAAGATGCTGAGGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	18					0	0	0.002450	0	0
RHOV	171177	broad.mit.edu	37	15	41165937	41165937	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41165937T>A	ENST00000220507.4	-	2	361	c.212A>T	c.(211-213)cAa>cTa	p.Q71L		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	71					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CACCAGGACTTGCACTGCAGG	0.697000													23	91					0	0	0.003330	0	0
CD36	948	broad.mit.edu	37	7	80301250	80301250	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:80301250A>G	ENST00000435819.1	+	14	1703	c.1019A>G	c.(1018-1020)tAc>tGc	p.Y340C	CD36_ENST00000447544.2_Missense_Mutation_p.Y340C|CD36_ENST00000534394.1_Missense_Mutation_p.Y264C|CD36_ENST00000432207.1_Missense_Mutation_p.Y340C|CD36_ENST00000394788.3_Missense_Mutation_p.Y340C|CD36_ENST00000544133.1_Silent_p.V277V|CD36_ENST00000309881.7_Missense_Mutation_p.Y340C|CD36_ENST00000433696.2_Missense_Mutation_p.Y301C|CD36_ENST00000538969.1_Missense_Mutation_p.Y280C			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	340					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGACCTGTGTACATTTCACTT	0.328000													10	41					0	0	0.008291	0	0
METAP2	10988	broad.mit.edu	37	12	95907493	95907493	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:95907493G>A	ENST00000323666.5	+	11	1479	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	METAP2_ENST00000550777.1_Missense_Mutation_p.R381H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000546753.1_Missense_Mutation_p.R394H	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	417					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GCCTTCTGCCGCAGATGGCTG	0.408000													4	76					0	0	0.009096	0	0
ROS1	6098	broad.mit.edu	37	6	117683996	117683996	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:117683996T>C	ENST00000368508.3	-	21	3349	c.3151A>G	c.(3151-3153)Ata>Gta	p.I1051V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I1046V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1051	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGTAATATAAATATTCTG	0.348000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								14	11					0	0	0.001855	0	0
FAM84B	157638	broad.mit.edu	37	8	127569332	127569332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:127569332C>T	ENST00000304916.3	-	2	758	c.303G>A	c.(301-303)tcG>tcA	p.S101S	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	101						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TCAGCGCCGCCGAGCCCGGCG	0.657000													5	35					0	0	0.000602	0	0
SLC25A46	91137	broad.mit.edu	37	5	110091194	110091194	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:110091194A>G	ENST00000355943.3	+	6	719	c.593A>G	c.(592-594)cAa>cGa	p.Q198R	SLC25A46_ENST00000447245.2_Missense_Mutation_p.Q198R|SLC25A46_ENST00000513807.1_Missense_Mutation_p.Q36R|SLC25A46_ENST00000509442.2_Missense_Mutation_p.Q107R|SLC25A46_ENST00000504098.1_Missense_Mutation_p.Q52R|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_5'UTR	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	198					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTCCTAAACAAATAGGAGAA	0.279000													16	39					0	0	0.012319	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220205	79220205	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:79220205C>T	ENST00000374759.3	-	16	2894	c.2511G>A	c.(2509-2511)caG>caA	p.Q837Q		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	837					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGCATCCTTCTGGCCATCTC	0.716000													7	25					0	0	0.003080	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743624	148743624	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:148743624G>C	ENST00000514349.1	+	2	630	c.51G>C	c.(49-51)gtG>gtC	p.V17V	PCYOX1L_ENST00000274569.4_Silent_p.V107V			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	107					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGTGGTGGGCAGGAGCG	0.617000													11	60					0	0	0.013537	0	0
POLG2	11232	broad.mit.edu	37	17	62493064	62493064	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:62493064C>T	ENST00000539111.2	-	1	90	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	8					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATGGCAGGCCCTGACGGCTAC	0.567000													16	53					0	0	0.006122	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187317	7187317	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:7187317T>C	ENST00000317370.8	+	5	741	c.473T>C	c.(472-474)aTg>aCg	p.M158T	SLC2A4_ENST00000424875.2_Missense_Mutation_p.M148T|SLC2A4_ENST00000571308.1_Missense_Mutation_p.M158T|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	158					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGTGCCCATGTACGTGGGG	0.612000													10	14					0	0	0.006214	0	0
OAS2	4939	broad.mit.edu	37	12	113442824	113442824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:113442824C>A	ENST00000392583.2	+	7	1472	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.T422N	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	422	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAAGCTACACCTCCCAAAAA	0.488000													19	34					1.67942e-08	1.78014e-08	0.006122	1	0
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:56780655T>C	ENST00000337432.4	+	4	741	c.670T>C	c.(670-672)Tat>Cat	p.Y224H	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.Y224H	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	224					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				24	42					0	0	0.003954	0	0
DMXL2	23312	broad.mit.edu	37	15	51795035	51795035	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:51795035G>A	ENST00000251076.5	-	17	3247	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S987L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	987						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACTTCAACTGATTCTGGGAG	0.418000													9	46					0	0	0.006214	0	0
COL24A1	255631	broad.mit.edu	37	1	86591602	86591602	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:86591602A>C	ENST00000370571.2	-	3	783	c.417T>G	c.(415-417)ccT>ccG	p.P139P	COL24A1_ENST00000436319.1_Silent_p.P139P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	139	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTAATTTTTTAGGTAGTAATT	0.353000													22	18					0	0	0.003330	0	0
CLPTM1	1209	broad.mit.edu	37	19	45477814	45477814	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:45477814A>G	ENST00000541297.2	+	4	851	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CLPTM1_ENST00000337392.5_Missense_Mutation_p.D143G|CLPTM1_ENST00000546079.1_Missense_Mutation_p.D41G			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	143					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGAACTCAGACGGCTGCTAC	0.567000													33	27					0	0	0.003271	0	0
SEC31B	25956	broad.mit.edu	37	10	102256971	102256971	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:102256971T>C	ENST00000370345.3	-	17	2154	c.2057A>G	c.(2056-2058)tAt>tGt	p.Y686C		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	686					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAGCACACATAACAGAGTCT	0.567000													14	53					0	0	0.007413	0	0
RGS22	26166	broad.mit.edu	37	8	101083755	101083755	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:101083755A>G	ENST00000360863.6	-	6	630	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.L146L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	146					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTGAGACCAATTTGGCTAAC	0.368000													19	24					0	0	0.014323	0	0
INO80	54617	broad.mit.edu	37	15	41337203	41337203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41337203C>T	ENST00000361937.3	-	24	3230	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	INO80_ENST00000401393.3_Missense_Mutation_p.E936K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	936	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCTCCCCTTCTGGCGCTCCC	0.493000													14	49					0	0	0.004990	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407270	105407270	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:105407270A>G	ENST00000333244.5	-	7	14637	c.14518T>C	c.(14518-14520)Tct>Cct	p.S4840P	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4840						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCTTGAGATGTTGGAACT	0.463000													4	13					0	0	0.009096	0	0
FZD3	7976	broad.mit.edu	37	8	28413267	28413267	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:28413267G>C	ENST00000240093.3	+	7	2044	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	FZD3_ENST00000537916.1_Missense_Mutation_p.E522D	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	522					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGTGAATGAGAGCCGACAGG	0.393000													12	45					0	0	0.001855	0	0
ZRANB3	84083	broad.mit.edu	37	2	135960517	135960517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:135960517C>T	ENST00000401392.1	-	20	3232	c.3020G>A	c.(3019-3021)aGa>aAa	p.R1007K	ZRANB3_ENST00000264159.6_Missense_Mutation_p.R1009K|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R1007K			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1009						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCTGGGTTTCTTATCATTTC	0.433000													8	22					0	0	0.003080	0	0
PLXNA1	5361	broad.mit.edu	37	3	126724992	126724992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:126724992C>T	ENST00000251772.4	+	7	1968	c.1899C>T	c.(1897-1899)ttC>ttT	p.F633F	PLXNA1_ENST00000393409.2_Silent_p.F656F			Q9UIW2	PLXA1_HUMAN	plexin A1	656					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGGACTTCGTCTTCTACA	0.607000													22	176					0	0	0.010504	0	0
CNTN1	1272	broad.mit.edu	37	12	41327360	41327360	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:41327360A>T	ENST00000551295.2	+	8	918	c.801A>T	c.(799-801)ggA>ggT	p.G267G	CNTN1_ENST00000360099.3_Silent_p.G267G|CNTN1_ENST00000547849.1_Silent_p.G267G|CNTN1_ENST00000348761.2_Silent_p.G256G|CNTN1_ENST00000347616.1_Silent_p.G267G|CNTN1_ENST00000547702.1_Silent_p.G267G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	267	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGCACTTGGAAAGTAAGTAT	0.284000													24	67					0	0	0.003330	0	0
NDUFA13	51079	broad.mit.edu	37	19	19626839	19626839	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:19626839G>C	ENST00000252576.5	+	1	41	c.41G>C	c.(40-42)aGa>aCa	p.R14T	NDUFA13_ENST00000507754.4_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CTGGGCAAAAGAGGAGTAAAG	0.612000													18	20					0	0	0.006122	0	0
TTC13	79573	broad.mit.edu	37	1	231048454	231048454	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:231048454G>A	ENST00000366661.4	-	19	2151	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I	TTC13_ENST00000414259.1_Missense_Mutation_p.T662I|TTC13_ENST00000366662.4_Missense_Mutation_p.T661I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	715							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATAATTGTGTCCTTTCTTC	0.318000													19	125					0	0	0.008871	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940254	70940254	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:70940254G>A	ENST00000359655.4	+	1	267	c.207G>A	c.(205-207)gtG>gtA	p.V69V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	69					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGACTGTGAAACCTCAGG	0.647000													21	95					0	0	0.002780	0	0
RASAL3	64926	broad.mit.edu	37	19	15562677	15562677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:15562677G>A	ENST00000343625.7	-	18	3050	c.2965C>T	c.(2965-2967)Cca>Tca	p.P989S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGCGTCCTTGGAGAAAGCTGC	0.602000													31	24					0	0	0.007291	0	0
NOP2	4839	broad.mit.edu	37	12	6675746	6675746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:6675746T>C	ENST00000541778.1	-	4	675	c.187A>G	c.(187-189)Aag>Gag	p.K63E	NOP2_ENST00000399466.2_Missense_Mutation_p.K63E|NOP2_ENST00000537442.1_Missense_Mutation_p.K63E|NOP2_ENST00000545200.1_Missense_Mutation_p.K63E|NOP2_ENST00000322166.5_Missense_Mutation_p.K63E|NOP2_ENST00000545915.1_Missense_Mutation_p.K63E|NOP2_ENST00000382421.3_Missense_Mutation_p.K63E|NOP2_ENST00000540228.1_Missense_Mutation_p.K63E|NOP2_ENST00000542015.1_Intron			P46087	NOP2_HUMAN	NOP2 nucleolar protein	63					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTATTTGTCTTAGGGGCTTCA	0.488000													25	34					0	0	0.006320	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415584	213415584	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:213415584G>A	ENST00000366960.3	+	11	2915	c.2765G>A	c.(2764-2766)aGa>aAa	p.R922K	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R625K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R910K|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R710K	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	922	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTTTACATAGAGAGGGAATT	0.418000													35	69					0	0	0.006230	0	0
NCEH1	57552	broad.mit.edu	37	3	172365740	172365740	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:172365740G>C	ENST00000475381.1	-	2	536	c.303C>G	c.(301-303)ccC>ccG	p.P101P	NCEH1_ENST00000538775.1_Silent_p.P133P|NCEH1_ENST00000273512.3_Silent_p.P133P|NCEH1_ENST00000543711.1_Intron			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	101					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GTGGCTCTTCGGGCTTCGGAG	0.532000													16	46					0	0	0.004990	0	0
DNAH17	8632	broad.mit.edu	37	17	76430168	76430168	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:76430168T>C	ENST00000389840.5	-	75	12273	c.12149A>G	c.(12148-12150)aAc>aGc	p.N4050S	DNAH17_ENST00000585328.1_Missense_Mutation_p.N4051S|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGTCCCCGTTGTTGAAGGG	0.597000													30	126					0	0	0.013726	0	0
KIRREL	55243	broad.mit.edu	37	1	158064160	158064160	+	Silent	SNP	C	C	A	rs148421111		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:158064160C>A	ENST00000368172.1	+	10	1231	c.1219C>A	c.(1219-1221)Cgg>Agg	p.R407R	KIRREL_ENST00000359209.6_Silent_p.R593R|KIRREL_ENST00000368173.3_Silent_p.R609R|KIRREL_ENST00000416935.2_Silent_p.R493R|KIRREL_ENST00000392272.2_Silent_p.R490R|KIRREL_ENST00000360089.4_Silent_p.R429R			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	593	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					CATCGACACCCGGGAGGAGTA	0.612000													4	19					0.00909568	0.00938839	0.009096	1	0
RAB18	22931	broad.mit.edu	37	10	27793340	27793340	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:27793340C>T	ENST00000356940.6	+	1	144	c.42C>T	c.(40-42)atC>atT	p.I14I	RAB18_ENST00000375802.3_Silent_p.I14I|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000535776.1_Silent_p.I14I	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	14					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						TCCTCATCATCGGCGAGAGTG	0.682000													5	10					0	0	0.003080	0	0
TPRN	286262	broad.mit.edu	37	9	140093630	140093630	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:140093630G>A	ENST00000409012.4	-	1	1620	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.L451L	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	512					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGTCCTGCAGAGTCCCTGGC	0.672000													48	37					0	0	0.014410	0	0
C11orf53	341032	broad.mit.edu	37	11	111154990	111154990	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:111154990G>A	ENST00000280325.4	+	3	344	c.197G>A	c.(196-198)gGa>gAa	p.G66E		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	66										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GAGCCCTACGGAGACTACCGG	0.697000													44	28					0	0	0.009718	0	0
ADAM9	8754	broad.mit.edu	37	8	38928862	38928862	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:38928862A>G	ENST00000487273.2	+	15	1715	c.1637A>G	c.(1636-1638)aAa>aGa	p.K546R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	546	Cys-rich.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTGAATTCTAAAGGTGACAGA	0.358000													14	17					0	0	0.004007	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6442925	6442925	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:6442925G>A	ENST00000162749.2	-	3	599	c.300C>T	c.(298-300)ctC>ctT	p.L100L	TNFRSF1A_ENST00000366159.4_Silent_p.L100L|TNFRSF1A_ENST00000437813.3_5'UTR|TNFRSF1A_ENST00000540022.1_Intron	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	100					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						TGGAGCAGCTGAGGCAGTGTC	0.592000													3	3					0	0	0.004672	0	0
SHQ1	55164	broad.mit.edu	37	3	72799820	72799820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:72799820G>A	ENST00000325599.8	-	11	1488	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SHQ1_ENST00000463369.1_Missense_Mutation_p.S422F|SHQ1_ENST00000468371.1_5'UTR	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	450	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTCAGAGCTGGAGCAAAGTGT	0.478000													9	6					0	0	0.004482	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963126	73963126	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:73963126C>T	ENST00000055682.6	-	3	1877	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTTGGATTCTTAAGTTGCT	0.428000													21	39					0	0	0.014323	0	0
CYP3A4	1576	broad.mit.edu	37	7	99358539	99358539	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99358539C>T	ENST00000354593.2	-	7	972	c.869G>A	c.(868-870)aGa>aAa	p.R290K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.R440K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	440					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATGCAGTTTCTGGGTCCACT	0.393000													44	68					0	0	0.014410	0	0
TRMT13	54482	broad.mit.edu	37	1	100598732	100598732	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:100598732C>G	ENST00000370141.2	+	1	14	c.8C>G	c.(7-9)aCc>aGc	p.T3S	TRMT13_ENST00000370143.1_Missense_Mutation_p.T3S	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		ATTATGGCGACCTCCGCGACG	0.552000													20	30					0	0	0.003954	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373335	110373335	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:110373335C>T	ENST00000356454.3	+	1	1425	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	423																	CCTCGCATCTCATCACCTACA	0.627000													23	38					0	0	0.003954	0	0
RPL22L1	200916	broad.mit.edu	37	3	170584195	170584195	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:170584195C>T	ENST00000295830.8	-	4	658	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RPL22L1_ENST00000463836.1_Missense_Mutation_p.E114K	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	115					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GATTCATCTTCATCTTGACTA	0.393000													4	22					0	0	0.000602	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060247	128060247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:128060247G>A	ENST00000254730.6	+	5	1012	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	EEFSEC_ENST00000483457.1_Missense_Mutation_p.E265K|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	320						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CATCTCTGTGGAAAAGATACC	0.582000													56	254					0	0	0.014410	0	0
ZNF839	55778	broad.mit.edu	37	14	102805205	102805205	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:102805205C>G	ENST00000262236.5	+	6	1719	c.1364C>G	c.(1363-1365)cCa>cGa	p.P455R	ZNF839_ENST00000558850.1_Missense_Mutation_p.P455R|ZNF839_ENST00000442396.2_Missense_Mutation_p.P571R|ZNF839_ENST00000559185.1_Missense_Mutation_p.P455R|ZNF839_ENST00000420933.2_3'UTR	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	455						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAATACACCCAGACAACCTT	0.502000													5	31					0	0	0.001168	0	0
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:50255994C>T	ENST00000338821.5	-	15	1820	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ATP9A_ENST00000311637.5_Missense_Mutation_p.R383Q|ATP9A_ENST00000402822.1_Missense_Mutation_p.R398Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R519Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGACTGGTCTCGGCCCACCAG	0.547000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	40					0	0	0.014323	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206114	13206114	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr6:13206114A>G	ENST00000379350.1	+	7	861	c.732A>G	c.(730-732)aaA>aaG	p.K244K	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.K244K|PHACTR1_ENST00000457702.2_Silent_p.K99K			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	244						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCCAAAGAAAGTCATGATCT	0.592000													28	33					0	0	0.010818	0	0
CAMLG	819	broad.mit.edu	37	5	134074448	134074448	+	Silent	SNP	G	G	A	rs146867024		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr5:134074448G>A	ENST00000297156.2	+	1	258	c.138G>A	c.(136-138)cgG>cgA	p.R46R	CAMLG_ENST00000514518.1_Silent_p.R46R	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	46					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GCATCAACCGGATCATGGGCT	0.637000													5	44					0	0	0.000602	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371523	107371523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:107371523C>T	ENST00000552029.1	-	2	3038	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	MTERFD3_ENST00000392830.2_Missense_Mutation_p.E324K|C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000240050.4_Missense_Mutation_p.E324K			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGTTAATTCAAGAACCATT	0.358000													38	106					0	0	0.006999	0	0
RARA	5914	broad.mit.edu	37	17	38510642	38510642	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:38510642A>G	ENST00000254066.5	+	7	1351	c.896A>G	c.(895-897)aAc>aGc	p.N299S	RARA_ENST00000425707.3_Missense_Mutation_p.N202S|RARA_ENST00000394081.3_Missense_Mutation_p.N294S|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.N299S|RARA_ENST00000394086.3_Missense_Mutation_p.N315S	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	299	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGATGCACAACGCTGGCTTC	0.652000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								15	71					0	0	0.003163	0	0
AFG3L2	10939	broad.mit.edu	37	18	12337383	12337383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr18:12337383C>G	ENST00000269143.3	-	16	2363	c.2132G>C	c.(2131-2133)aGa>aCa	p.R711T		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	711					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R711I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCTACTGTTCTTTTATAAGC	0.393000													22	38					0	0	0.003330	0	0
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652000													4	99					0	0	0.000602	0	0
TTF2	8458	broad.mit.edu	37	1	117629135	117629135	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:117629135C>G	ENST00000369466.4	+	12	2195	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.L717L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTGCAAACCTCAATGTGGAGG	0.537000													8	13					0	0	0.004482	0	0
SLC25A24	29957	broad.mit.edu	37	1	108742614	108742614	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:108742614C>T	ENST00000565488.1	-	1	366	c.147G>A	c.(145-147)agG>agA	p.R49R	SLC25A24_ENST00000569674.1_Silent_p.R49R|RP11-483I13.5_ENST00000564063.1_RNA	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	49	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TGCCCAGGTTCCTGAGCCCCT	0.721000													8	25					0	0	0.008291	0	0
WDR44	54521	broad.mit.edu	37	X	117543582	117543582	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:117543582A>G	ENST00000254029.3	+	11	2059	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	WDR44_ENST00000371822.5_Missense_Mutation_p.N530S|WDR44_ENST00000371825.3_Missense_Mutation_p.N555S	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	555						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATGAAATACAATACTGAAGGT	0.348000													19	41					0	0	0.007413	0	0
WWP1	11059	broad.mit.edu	37	8	87442959	87442959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:87442959G>T	ENST00000517970.1	+	12	1673	c.1366G>T	c.(1366-1368)Gga>Tga	p.G456*	WWP1_ENST00000265428.4_Nonsense_Mutation_p.G456*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.G326*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.G238*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	456	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGACCCTTATGGACCTTTGCC	0.313000													11	50					4.3838e-07	4.61846e-07	0.001855	1	0
CLPTM1	1209	broad.mit.edu	37	19	45477816	45477816	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:45477816G>A	ENST00000541297.2	+	4	853	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	CLPTM1_ENST00000337392.5_Missense_Mutation_p.G144S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.G42S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	144					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAACTCAGACGGCTGCTACGA	0.572000													32	27					0	0	0.013726	0	0
BAZ2B	29994	broad.mit.edu	37	2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:160257124G>A	ENST00000392783.2	-	17	3379	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	AC008277.1_ENST00000420020.1_RNA|AC008277.1_ENST00000594921.1_RNA|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGAATTTGCTGAGCTCGAAGT	0.264000													7	15					0	0	0.001984	0	0
AMOTL1	154810	broad.mit.edu	37	11	94554952	94554952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:94554952C>T	ENST00000433060.2	+	4	1519	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	AMOTL1_ENST00000317837.9_Silent_p.F393F|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.Q410*	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	460				LQ -> HE (in Ref. 2; AAH14126).		cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAGGAACTTCAGGGTTACTA	0.537000													27	33					0	0	0.012213	0	0
DLEC1	9940	broad.mit.edu	37	3	38157986	38157986	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:38157986A>G	ENST00000308059.6	+	28	3920	c.3899A>G	c.(3898-3900)gAa>gGa	p.E1300G	DLEC1_ENST00000452631.2_Missense_Mutation_p.E1303G|DLEC1_ENST00000346219.3_Missense_Mutation_p.E1300G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1300					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGACAAGGAAGACCGGCTG	0.607000													18	50					0	0	0.004656	0	0
SEC23IP	11196	broad.mit.edu	37	10	121671610	121671610	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:121671610G>A	ENST00000369075.3	+	6	1318	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D205N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	416					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACCACGCAAGATGGACAGAC	0.433000													42	63					0	0	0.008740	0	0
COL17A1	1308	broad.mit.edu	37	10	105802183	105802183	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:105802183T>C	ENST00000353479.5	-	36	2836	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	COL17A1_ENST00000369733.3_Missense_Mutation_p.H849R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	849	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACCTTGATGTCCTGGGAG	0.537000													8	40					0	0	0.006214	0	0
WBSCR27	155368	broad.mit.edu	37	7	73255423	73255423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:73255423C>T	ENST00000297873.4	-	3	278	c.229G>A	c.(229-231)Ggc>Agc	p.G77S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	77										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AGGCCTGTGCCACAGGCCACG	0.662000													5	13					0	0	0.000602	0	0
CYP3A4	1576	broad.mit.edu	37	7	99359668	99359668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99359668C>G	ENST00000354593.2	-	6	902	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E417Q			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	417					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGTACCTTTCAGGGAGGAAC	0.507000													25	91					0	0	0.006320	0	0
HOXC5	3222	broad.mit.edu	37	12	54428131	54428131	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:54428131A>T	ENST00000312492.2	+	2	794	c.524A>T	c.(523-525)cAc>cTc	p.H175L	HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.H79L|RP11-834C11.14_ENST00000512206.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	175					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AAAGAATTCCACTTTAACCGC	0.537000													47	76					0	0	0.014410	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017134	2017134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:2017134C>T	ENST00000382722.5	-	5	918	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E122K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E122K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E186K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	186						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGAGGAACTCGGCGCCCAGC	0.602000													20	42					0	0	0.010504	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453444	20453444	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:20453444A>T	ENST00000377252.4	+	7	1672	c.831A>T	c.(829-831)aaA>aaT	p.K277N	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.K228N	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCCAGTGAAAGTCGGACTGT	0.443000													4	43					0	0	0.009096	0	0
TACC2	10579	broad.mit.edu	37	10	123845111	123845111	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:123845111G>A	ENST00000369005.1	+	4	3436	c.3096G>A	c.(3094-3096)aaG>aaA	p.K1032K	TACC2_ENST00000453444.2_Silent_p.K1032K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.K1032K|TACC2_ENST00000515273.1_Silent_p.K1032K|TACC2_ENST00000334433.3_Silent_p.K1032K|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1032						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTTGAGTAAGAGGGAGATGG	0.582000													7	47					0	0	0.001984	0	0
ESF1	51575	broad.mit.edu	37	20	13756530	13756530	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:13756530G>A	ENST00000202816.1	-	3	1131	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCATCAGCACGAGGAGCATCT	0.368000													33	41					0	0	0.009535	0	0
FER1L6	654463	broad.mit.edu	37	8	124975540	124975540	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:124975540A>C	ENST00000522917.1	+	3	305	c.99A>C	c.(97-99)gcA>gcC	p.A33A	FER1L6_ENST00000399018.1_Silent_p.A33A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	33						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACACTGAAGCACTGCAGGAGG	0.493000													19	99					0	0	0.008871	0	0
PDS5B	23047	broad.mit.edu	37	13	33327664	33327664	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:33327664A>G	ENST00000315596.10	+	25	3117	c.2931A>G	c.(2929-2931)gcA>gcG	p.A977A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	977					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGCAGCATGCAGCTGTTAGTG	0.363000													3	28					0	0	0.004672	0	0
RHOV	171177	broad.mit.edu	37	15	41165414	41165414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:41165414C>T	ENST00000220507.4	-	3	702	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCTGAGCACTCAAGGTAGCAG	0.577000													27	71					0	0	0.006320	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:55045040C>T	ENST00000335056.3	+	3	198	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W															p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537000													40	17					0	0	0.006999	0	0
TMPO	7112	broad.mit.edu	37	12	98926711	98926711	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:98926711G>A	ENST00000266732.4	+	4	914	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TMPO_ENST00000261210.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000343315.5_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTTTTCCTGAAATCTCCAC	0.458000													39	71					0	0	0.006999	0	0
PREB	10113	broad.mit.edu	37	2	27355129	27355129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27355129C>T	ENST00000260643.2	-	6	1148	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	299					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCATGGCCACAGGACTTG	0.612000													15	136					0	0	0.003163	0	0
SP140L	93349	broad.mit.edu	37	2	231222548	231222548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:231222548G>A	ENST00000243810.6	+	3	136	c.136G>A	c.(136-138)Gag>Aag	p.E46K	SP140L_ENST00000396563.4_Missense_Mutation_p.E46K|SP140L_ENST00000444636.1_Missense_Mutation_p.E46K|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.E46K|SP140_ENST00000486687.2_Silent_p.*769*			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	46	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGATGTAGATGAGGGACTTGT	0.398000													27	188					0	0	0.009535	0	0
NUCB1	4924	broad.mit.edu	37	19	49422510	49422510	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:49422510G>T	ENST00000405315.4	+	10	1303	c.969G>T	c.(967-969)agG>agT	p.R323S	NUCB1_ENST00000407032.1_Missense_Mutation_p.R323S|NUCB1_ENST00000263273.5_Missense_Mutation_p.R323S|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	323	EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		CCACTCAGAGGAAGGAGTTTG	0.602000													7	65					1.58986e-06	1.6709e-06	0.008291	1	0
CTCF	10664	broad.mit.edu	37	16	67650746	67650746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:67650746T>C	ENST00000264010.4	+	5	1495	c.1051T>C	c.(1051-1053)Ttc>Ctc	p.F351L	CTCF_ENST00000401394.1_Missense_Mutation_p.F23L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	351					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGAGAAGCCATTCAAGTGTTC	0.468000													31	143					0	0	0.013726	0	0
HOXB8	3218	broad.mit.edu	37	17	46690570	46690570	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:46690570C>T	ENST00000239144.4	-	2	960	c.726G>A	c.(724-726)aaG>aaA	p.K242K	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Silent_p.K241K	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						AAGCCTACTTCTTGTCGCCCT	0.731000													16	83					0	0	0.007413	0	0
ZFP91	80829	broad.mit.edu	37	11	58384283	58384283	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:58384283A>G	ENST00000316059.6	+	10	1368	c.1197A>G	c.(1195-1197)ccA>ccG	p.P399P	ZFP91-CNTF_ENST00000389919.4_Silent_p.P399P	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	399					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCGAGAAGCCATTACAGTGAG	0.438000													9	35					0	0	0.006214	0	0
COL4A3	1285	broad.mit.edu	37	2	228137702	228137702	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:228137702G>C	ENST00000396578.3	+	26	1958	c.1796G>C	c.(1795-1797)gGg>gCg	p.G599A	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	599	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCCTCCAGGGGATCCTGGC	0.557000													26	44					0	0	0.005443	0	0
SHOC2	8036	broad.mit.edu	37	10	112771502	112771502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:112771502C>G	ENST00000369452.4	+	9	2020	c.1675C>G	c.(1675-1677)Cag>Gag	p.Q559E	SHOC2_ENST00000265277.5_Missense_Mutation_p.Q513E	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	559					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCTTCCACCTCAGATTGTTGC	0.488000													36	58					0	0	0.005524	0	0
ZNF148	7707	broad.mit.edu	37	3	124952081	124952081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:124952081G>A	ENST00000360647.4	-	9	1974	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Nonsense_Mutation_p.Q497*|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.Q497*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.Q497*|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	497					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ACAGAAGGCTGAGAAGCTATG	0.438000													192	83					0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86087161	86087161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:86087161C>T	ENST00000394518.2	+	5	732	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	AKAP13_ENST00000361243.2_Missense_Mutation_p.H213Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	213					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCGAGGCTATCACAAGCTGCA	0.587000													12	40					0	0	0.002450	0	0
OR1B1	347169	broad.mit.edu	37	9	125391656	125391656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:125391656C>T	ENST00000304833.3	-	1	196	c.159G>A	c.(157-159)tgG>tgA	p.W53*	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCTGGAGTCCCAGGAGATGA	0.522000													17	12					0	0	0.006122	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220818	20220818	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr13:20220818G>C	ENST00000361479.5	+	3	673	c.605G>C	c.(604-606)aGa>aCa	p.R202T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R202T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	202	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACAAAGAAAAGAATTTCTGAA	0.338000													8	26					0	0	0.003080	0	0
N4BP2	55728	broad.mit.edu	37	4	40104102	40104102	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr4:40104102A>C	ENST00000261435.6	+	4	1053	c.637A>C	c.(637-639)Aac>Cac	p.N213H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	213						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTTAAGTTTAAACCCATTACC	0.328000													10	19					0	0	0.006214	0	0
UBP1	7342	broad.mit.edu	37	3	33434926	33434926	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:33434926C>T	ENST00000283629.3	-	14	1940	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	UBP1_ENST00000283628.5_Missense_Mutation_p.E471K|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.E435K	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	471					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATCATTTCTTCCAAGTAGATT	0.368000													12	32					0	0	0.013537	0	0
NLRC5	84166	broad.mit.edu	37	16	57062059	57062059	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:57062059G>A	ENST00000436936.1	+	7	2376	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q	NLRC5_ENST00000539144.1_Silent_p.Q717Q|NLRC5_ENST00000308149.7_Silent_p.Q717Q|NLRC5_ENST00000262510.6_Silent_p.Q717Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	717					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAGGCTGCAGATGCTGGGGT	0.562000													6	26					0	0	0.001984	0	0
MAP3K2	10746	broad.mit.edu	37	2	128093472	128093472	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:128093472T>C	ENST00000409947.1	-	5	520	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	MAP3K2_ENST00000344908.5_Missense_Mutation_p.M80V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	80	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGTAGATCCATAGACTGTCCA	0.323000													3	4					0	0	0.009096	0	0
RBM45	129831	broad.mit.edu	37	2	178977522	178977522	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:178977522G>A	ENST00000286070.5	+	1	341	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	83	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCAGGGCCATGGAGGAGATGC	0.647000													25	58					0	0	0.006320	0	0
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:41420011C>T	ENST00000373198.4	-	3	545	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAATGGAAGTCGATGCAGTGG	0.567000													12	25					0	0	0.013537	0	0
IFT140	9742	broad.mit.edu	37	16	1576661	1576661	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr16:1576661C>G	ENST00000426508.2	-	20	2899	c.2536G>C	c.(2536-2538)Gag>Cag	p.E846Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E40Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	846										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACGCGGGCCTCTAGCTCCGGC	0.741000													5	10					0	0	0.001984	0	0
ZNF418	147686	broad.mit.edu	37	19	58441801	58441801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:58441801G>A	ENST00000396147.1	-	3	419	c.128C>T	c.(127-129)tCc>tTc	p.S43F	ZNF418_ENST00000425570.3_Missense_Mutation_p.S64F|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000600989.1_Missense_Mutation_p.S43F|ZNF418_ENST00000595830.1_Missense_Mutation_p.S43F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTTACCCAGGGAGGATATAAG	0.488000													70	47					0	0	0.014410	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473945	99473945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:99473945C>G	ENST00000316368.2	-	1	735	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCACAAGTGGCAAAGGCATTT	0.498000													8	35					0	0	0.004482	0	0
CHRD	8646	broad.mit.edu	37	3	184099561	184099561	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:184099561C>T	ENST00000204604.1	+	5	815	c.569C>T	c.(568-570)tCg>tTg	p.S190L	CHRD_ENST00000482805.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000348986.3_Missense_Mutation_p.S190L|CHRD_ENST00000450923.1_Missense_Mutation_p.S190L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	190	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCGAGTCTCGCTGCTGCGC	0.662000													13	26					0	0	0.002450	0	0
DNAH10	196385	broad.mit.edu	37	12	124311275	124311275	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:124311275G>A	ENST00000409039.3	+	24	3892	c.3867G>A	c.(3865-3867)ctG>ctA	p.L1289L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1289	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GGATCAACCTGAATGTGCAGA	0.478000													38	85					0	0	0.004878	0	0
ZFP37	7539	broad.mit.edu	37	9	115805712	115805712	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr9:115805712C>A	ENST00000374227.3	-	4	1213	c.1186G>T	c.(1186-1188)Gtg>Ttg	p.V396L	ZFP37_ENST00000553380.1_Missense_Mutation_p.V411L|ZFP37_ENST00000555206.1_Missense_Mutation_p.V397L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGAGATCTCACATGTTGAATA	0.413000													47	34					5.7616e-29	6.27616e-29	0.014410	1	0
TMC3	342125	broad.mit.edu	37	15	81636366	81636366	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:81636366G>A	ENST00000558726.1	-	14	1677	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I513I|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	513						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCATGTCAATGATGGAGAGCT	0.537000													8	32					0	0	0.004482	0	0
FBXL6	26233	broad.mit.edu	37	8	145580113	145580113	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr8:145580113G>A	ENST00000331890.5	-	7	1136	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L	FBXL6_ENST00000455319.2_Silent_p.L352L|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	358					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTCCTCTAGGCTAGGGAAG	0.642000													14	66					0	0	0.002450	0	0
PHF20	51230	broad.mit.edu	37	20	34459579	34459579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr20:34459579G>A	ENST00000374012.3	+	9	1239	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TAGGTCAGTTGAAGTCTGCTT	0.453000													57	72					0	0	0.014410	0	0
DENND5B	160518	broad.mit.edu	37	12	31595714	31595714	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:31595714A>C	ENST00000389082.5	-	7	2271	c.2007T>G	c.(2005-2007)agT>agG	p.S669R	DENND5B_ENST00000536562.1_Missense_Mutation_p.S704R|DENND5B_ENST00000306833.6_Missense_Mutation_p.S704R|DENND5B_ENST00000354285.4_Missense_Mutation_p.S691R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	669						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTACTTGTTACTGGTTGGTC	0.418000													6	20					0	0	0.001984	0	0
RPL4	6124	broad.mit.edu	37	15	66792429	66792429	+	Missense_Mutation	SNP	T	T	C	rs139349583		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr15:66792429T>C	ENST00000307961.6	-	9	1095	c.1003A>G	c.(1003-1005)Atg>Gtg	p.M335V	RPL4_ENST00000568588.1_Missense_Mutation_p.M241V	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	335					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCCGGCGCATGGTCTTTGCA	0.448000													11	31					0	0	0.010729	0	0
USP8	9101	broad.mit.edu	37	15	50776527	50776527	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:50776527G>A	ENST00000433963.1	+	13	2359	c.1859G>A	c.(1858-1860)aGa>aAa	p.R620K	USP8_ENST00000396444.3_Missense_Mutation_p.R620K|USP8_ENST00000425032.3_Intron|USP8_ENST00000307179.4_Missense_Mutation_p.R620K			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	620					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R620K(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GGAACTTTTAGAGAGGATACA	0.299000													9	49					0	0	0.010729	0	0
ARID4B	51742	broad.mit.edu	37	1	235338568	235338568	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:235338568C>T	ENST00000264183.3	-	22	4092	c.3595G>A	c.(3595-3597)Gat>Aat	p.D1199N	ARID4B_ENST00000349213.3_Missense_Mutation_p.D1113N|ARID4B_ENST00000366603.2_Missense_Mutation_p.D1199N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GGATCCTTATCACCATTCTTT	0.408000													27	64					0	0	0.005443	0	0
SLC38A10	124565	broad.mit.edu	37	17	79257211	79257211	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:79257211G>A	ENST00000374759.3	-	4	738	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	SLC38A10_ENST00000288439.5_Nonsense_Mutation_p.Q119*	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	119					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATCCTTACCTGAAACCCGAAC	0.602000													9	12					0	0	0.008291	0	0
APEX2	27301	broad.mit.edu	37	X	55028739	55028739	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:55028739G>A	ENST00000374987.3	+	3	363	c.297G>A	c.(295-297)ctG>ctA	p.L99L	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	99					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AAGAAGGCCTGAGTGGCCTGT	0.552000								Other BER factors					46	20					0	0	0.014410	0	0
PDE3A	5139	broad.mit.edu	37	12	20523043	20523043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:20523043G>A	ENST00000359062.3	+	1	865	c.825G>A	c.(823-825)ctG>ctA	p.L275L	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	275					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L275L(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGTCCCAGCTGATTGCTGGGA	0.627000													23	41					0	0	0.008361	0	0
C18orf8	29919	broad.mit.edu	37	18	21084405	21084405	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:21084405C>G	ENST00000269221.3	+	2	283	c.173C>G	c.(172-174)tCa>tGa	p.S58*	C18orf8_ENST00000590868.1_Nonsense_Mutation_p.S58*	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	58										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AATCCCATCTCATTTAGGTAA	0.378000													29	83					0	0	0.013726	0	0
CDH22	64405	broad.mit.edu	37	20	44803691	44803691	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:44803691G>A	ENST00000372262.3	-	11	2341	c.1941C>T	c.(1939-1941)ctC>ctT	p.L647L	CDH22_ENST00000537909.1_Silent_p.L647L	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	647					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGTGGCGCCTGAGGGTGAGGA	0.627000													23	25					0	0	0.004656	0	0
ZNF606	80095	broad.mit.edu	37	19	58489802	58489802	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:58489802G>A	ENST00000341164.4	-	7	2866	c.2246C>T	c.(2245-2247)tCt>tTt	p.S749F	ZNF606_ENST00000536132.1_Missense_Mutation_p.S659F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATAAGGGAAGAATTCTTACA	0.373000													73	32					0	0	0.014410	0	0
SNX11	29916	broad.mit.edu	37	17	46189426	46189426	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:46189426G>A	ENST00000393405.2	+	3	375	c.21G>A	c.(19-21)atG>atA	p.M7I	SNX11_ENST00000578861.1_3'UTR|SNX11_ENST00000580219.1_5'UTR|SNX11_ENST00000582104.1_5'UTR|SNX11_ENST00000439357.2_5'UTR|SNX11_ENST00000452859.2_Intron|SNX11_ENST00000359238.2_Missense_Mutation_p.M7I	NM_152244.1	NP_689450.1	Q9Y5W9	SNX11_HUMAN	sorting nexin 11	7					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GGTGTAGGATGTCGGAGAACC	0.458000													12	51					0	0	0.013537	0	0
CNTN3	5067	broad.mit.edu	37	3	74350587	74350587	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:74350587G>T	ENST00000263665.6	-	15	2084	c.2057C>A	c.(2056-2058)cCa>cAa	p.P686Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	686	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTAAACTTGGTTCTCCACC	0.408000													17	75					1.33834e-09	1.4152e-09	0.007413	1	0
CAD	790	broad.mit.edu	37	2	27440858	27440858	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:27440858G>A	ENST00000264705.4	+	2	358	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	CAD_ENST00000403525.1_Missense_Mutation_p.E66K	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	66	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCCCCCAGATGAAATGGATGA	0.502000													17	59					0	0	0.004990	0	0
FRAS1	80144	broad.mit.edu	37	4	79430001	79430001	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:79430001C>T	ENST00000264895.6	+	63	10061	c.9621C>T	c.(9619-9621)ccC>ccT	p.P3207P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3202					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTCATTTCCCCAGATACGCTG	0.572000													4	13					0	0	0.009096	0	0
PRPF4	9128	broad.mit.edu	37	9	116050456	116050456	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:116050456G>A	ENST00000374199.4	+	10	1335	c.934G>A	c.(934-936)Gat>Aat	p.D312N	PRPF4_ENST00000374198.4_Splice_Site_p.D313N			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	313						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						CCTTTCCAGTGATGAACCAGT	0.458000													13	18					0	0	0.003163	0	0
ULK4	54986	broad.mit.edu	37	3	41831325	41831325	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:41831325C>T	ENST00000301831.4	-	21	2483	c.2021G>A	c.(2020-2022)aGa>aAa	p.R674K		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	674							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCGAGTGATTCTACACAAGGC	0.463000													20	43					0	0	0.014323	0	0
GLIS3	169792	broad.mit.edu	37	9	3828335	3828335	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:3828335G>A	ENST00000324333.10	-	10	2458	c.2265C>T	c.(2263-2265)ttC>ttT	p.F755F	GLIS3_ENST00000381971.3_Silent_p.F910F|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	755					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TGATCTGCAAGAAGGTAGCAT	0.542000													10	10					0	0	0.006214	0	0
TNMD	64102	broad.mit.edu	37	X	99854576	99854576	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:99854576C>T	ENST00000373031.4	+	7	1033	c.816C>T	c.(814-816)ggC>ggT	p.G272G		NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	272						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GCCGTCGAGGCAACCGCTATT	0.478000													5	16					0	0	0.001984	0	0
OTX1	5013	broad.mit.edu	37	2	63283050	63283050	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:63283050C>A	ENST00000282549.2	+	5	940	c.664C>A	c.(664-666)Ccc>Acc	p.P222T	OTX1_ENST00000366671.3_Missense_Mutation_p.P222T	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	222						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					AGCCTCTTATCCCATGTCCTA	0.662000													20	36					2.94398e-08	3.08608e-08	0.007413	1	0
WDR77	79084	broad.mit.edu	37	1	111989760	111989760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:111989760C>T	ENST00000235090.5	-	4	656	c.450G>A	c.(448-450)aaG>aaA	p.K150K	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	150					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTCCCAAACCTTGATGCTAA	0.398000													39	43					0	0	0.008740	0	0
IL1A	3552	broad.mit.edu	37	2	113532667	113532667	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:113532667G>A	ENST00000263339.3	-	7	948	c.793C>T	c.(793-795)Cag>Tag	p.Q265*		NM_000575.3	NP_000566.3	P01583	IL1A_HUMAN	interleukin 1, alpha	265					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TCCAGTATCTGAAAGTCAGTG	0.458000													18	42					0	0	0.007413	0	0
SHKBP1	92799	broad.mit.edu	37	19	41096303	41096303	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:41096303C>T	ENST00000291842.5	+	16	1792	c.1743C>T	c.(1741-1743)gcC>gcT	p.A581A	SHKBP1_ENST00000600733.1_Silent_p.A556A	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	581						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAACCACCGCCATGGACGGCC	0.697000													23	12					0	0	0.003954	0	0
PUS1	80324	broad.mit.edu	37	12	132416681	132416681	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:132416681C>G	ENST00000542167.2	+	2	859	c.106C>G	c.(106-108)Ctg>Gtg	p.L36V	PUS1_ENST00000376649.3_Intron|PUS1_ENST00000440818.2_Intron|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000443358.2_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	0						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		cgacctctgtctgcaaaatat	0.502000													2	10					0	0	0.004672	0	0
SLC25A6	293	broad.mit.edu	37	X	1505571	1505571	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:1505571G>T	ENST00000381401.5	-	4	1535	c.821C>A	c.(820-822)gCg>gAg	p.A274E		NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	274					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GTTGGACCACGCACCCTTGAA	0.607000													154	78					1.19662e-71	1.29941e-71	0.014410	1	0
STRN3	29966	broad.mit.edu	37	14	31416386	31416386	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:31416386G>A	ENST00000355683.5	-	5	841	c.626C>T	c.(625-627)tCa>tTa	p.S209L	STRN3_ENST00000357479.5_Missense_Mutation_p.S209L	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	209					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ATTTGGTTCTGAATTAGATAG	0.348000													25	62					0	0	0.005443	0	0
NRL	4901	broad.mit.edu	37	14	24551781	24551781	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:24551781C>T	ENST00000561028.1	-	2	596	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K	NRL_ENST00000397002.2_Missense_Mutation_p.E93K|NRL_ENST00000396997.1_Missense_Mutation_p.E93K			P54845	NRL_HUMAN	neural retina leucine zipper	93					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		ATGGCCTCTTCAGGACTCAGC	0.682000													12	37					0	0	0.010729	0	0
LINC00933	100506874	broad.mit.edu	37	15	85121308	85121308	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:85121308C>T	ENST00000557887.1	+	0	508					NR_038273.1|NR_038274.1																						GTCAACGTATCCACAGAAAGC	0.468000													10	32					0	0	0.006214	0	0
QRICH2	84074	broad.mit.edu	37	17	74288992	74288992	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:74288992C>A	ENST00000262765.5	-	4	1497	c.1318G>T	c.(1318-1320)Gat>Tat	p.D440Y		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	440	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						ccagactgatccattccaggc	0.567000													9	20					0.000442599	0.000455506	0.006214	1	0
KDM4A	9682	broad.mit.edu	37	1	44169946	44169946	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:44169946G>A	ENST00000372396.3	+	22	3234	c.3100G>A	c.(3100-3102)Gag>Aag	p.E1034K	KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1034					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CACAGAGAAAGAGGTTAAGCA	0.443000													48	93					0	0	0.014410	0	0
OR4C15	81309	broad.mit.edu	37	11	55322644	55322644	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:55322644A>G	ENST00000314644.2	+	1	862	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGGGCGCTGGAAAGCTCTCTC	0.443000										HNSCC(20;0.049)			25	104					0	0	0.007291	0	0
TIGD2	166815	broad.mit.edu	37	4	90034836	90034836	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:90034836C>T	ENST00000317005.2	+	1	869	c.711C>T	c.(709-711)ttC>ttT	p.F237F		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	237	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		CCCGAGCATTCAAAGGCACTG	0.418000													10	32					0	0	0.006214	0	0
MIPEPP3	650794	broad.mit.edu	37	13	21875617	21875617	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:21875617G>A	ENST00000424756.1	+	0	118																											TATGAAATATGAAGGATTTCA	0.463000													7	18					0	0	0.001984	0	0
DHRS11	79154	broad.mit.edu	37	17	34956152	34956152	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:34956152A>G	ENST00000251312.5	+	5	847	c.635A>G	c.(634-636)aAg>aGg	p.K212R	DHRS11_ENST00000590554.1_Missense_Mutation_p.K133R	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	212						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						CTCCACGACAAGGACCCTGAG	0.572000													22	41					0	0	0.002780	0	0
AASS	10157	broad.mit.edu	37	7	121738842	121738842	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:121738842T>C	ENST00000393376.1	-	13	1580	c.1485A>G	c.(1483-1485)gtA>gtG	p.V495V	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Silent_p.V495V			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	495	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	AATATTCTAATACAGGCTCAG	0.328000													12	61					0	0	0.013537	0	0
NR5A2	2494	broad.mit.edu	37	1	200014630	200014630	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:200014630C>T	ENST00000367362.3	+	4	627	c.381C>T	c.(379-381)aaC>aaT	p.N127N	NR5A2_ENST00000544748.1_Silent_p.N55N|NR5A2_ENST00000236914.3_Silent_p.N81N	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	127					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AAAACCAGAACTGCCAAATTG	0.328000													14	29					0	0	0.001855	0	0
TRPA1	8989	broad.mit.edu	37	8	72977734	72977734	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:72977734A>T	ENST00000262209.4	-	4	711	c.504T>A	c.(502-504)gcT>gcA	p.A168A		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	168						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAATGATCACAGCTGTGTTTC	0.333000													5	32					0	0	0.000602	0	0
SEMA3D	223117	broad.mit.edu	37	7	84649547	84649547	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:84649547A>G	ENST00000284136.6	-	12	1547		c.e12+1		SEMA3D_ENST00000484038.1_Splice_Site	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D						cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ACTGAGTCTTACCTTGAATAT	0.413000													6	28					0	0	0.001168	0	0
SZT2	23334	broad.mit.edu	37	1	43909302	43909302	+	Missense_Mutation	SNP	G	G	A	rs141085666		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:43909302G>A	ENST00000562955.1	+	61	8489	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R1988Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2887						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TCTGGGAGCCGAGAGGCCCCC	0.602000													19	68					0	0	0.008871	0	0
GSDMD	79792	broad.mit.edu	37	8	144641548	144641548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:144641548G>A	ENST00000526406.1	+	5	926	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GSDMD_ENST00000262580.4_Missense_Mutation_p.E15K|GSDMD_ENST00000533063.1_Missense_Mutation_p.E63K	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	15								p.E15K(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTGGTCCAGGAGCTGGACCA	0.632000													22	36					0	0	0.012319	0	0
FOXO1	2308	broad.mit.edu	37	13	41134387	41134387	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:41134387A>G	ENST00000379561.5	-	2	1625	c.1241T>C	c.(1240-1242)tTg>tCg	p.L414S		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	414					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GGGTGAATTCAAACTGGTGTT	0.488000													22	93					0	0	0.005443	0	0
NRXN1	9378	broad.mit.edu	37	2	50850596	50850596	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:50850596A>G	ENST00000404971.1	-	7	2428	c.1089T>C	c.(1087-1089)taT>taC	p.Y363Y	NRXN1_ENST00000406316.2_Silent_p.Y330Y|NRXN1_ENST00000405472.3_Silent_p.Y330Y|NRXN1_ENST00000402717.3_Silent_p.Y330Y|NRXN1_ENST00000401669.2_Silent_p.Y330Y|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Silent_p.Y330Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	330	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAAGATTGACATAATCAGCCG	0.433000													59	100					0	0	0.014410	0	0
DAGLA	747	broad.mit.edu	37	11	61511362	61511362	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:61511362G>A	ENST00000257215.5	+	20	2646	c.2530G>A	c.(2530-2532)Gac>Aac	p.D844N		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	844					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GCTGGCGGCCGACAGCCTGTC	0.667000													105	166					0	0	0.014410	0	0
FUT11	170384	broad.mit.edu	37	10	75533107	75533107	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:75533107A>T	ENST00000372841.3	+	2	911	c.868A>T	c.(868-870)Aca>Tca	p.T290S	FUT11_ENST00000394790.1_Missense_Mutation_p.T290S|FUT11_ENST00000465695.1_3'UTR	NM_173540.2	NP_775811.2	Q495W5	FUT11_HUMAN	fucosyltransferase 11 (alpha (1,3) fucosyltransferase)	290					protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7	Prostate(51;0.0112)					CGACTACATGACAGAAAAACT	0.567000													25	48					0	0	0.004656	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111794272	111794272	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:111794272T>C	ENST00000452346.2	+	15	1891	c.1888T>C	c.(1888-1890)Tac>Cac	p.Y630H	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.Y504H			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	630	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TGGATCTGCCTACTGTGGTGC	0.582000													63	489					0	0	0.014410	0	0
TMPRSS7	344805	broad.mit.edu	37	3	111785291	111785291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:111785291C>T	ENST00000452346.2	+	13	1611	c.1608C>T	c.(1606-1608)ctC>ctT	p.L536L	TMPRSS7_ENST00000419127.1_Silent_p.L410L			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	536	LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGCCCTCTCATCTGTGATG	0.507000													32	232					0	0	0.006230	0	0
STK36	27148	broad.mit.edu	37	2	219537634	219537634	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:219537634C>G	ENST00000295709.3	+	2	361	c.82C>G	c.(82-84)Cag>Gag	p.Q28E	STK36_ENST00000440309.1_Missense_Mutation_p.Q28E|STK36_ENST00000392105.3_Missense_Mutation_p.Q28E|STK36_ENST00000392106.2_Missense_Mutation_p.Q28E	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	28	Protein kinase.				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		ATACAGTGCTCAGGTGTTGCA	0.443000													37	54					0	0	0.004289	0	0
HMCN1	83872	broad.mit.edu	37	1	185704134	185704134	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:185704134A>G	ENST00000271588.4	+	1	452	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	HMCN1_ENST00000367492.2_Missense_Mutation_p.K75E	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	75	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACCTAAAAGACCTCT	0.368000													26	44					0	0	0.006320	0	0
GOLGA5	9950	broad.mit.edu	37	14	93299524	93299524	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:93299524C>A	ENST00000163416.2	+	10	2033	c.1777C>A	c.(1777-1779)Cag>Aag	p.Q593K	GOLGA5_ENST00000355976.2_Missense_Mutation_p.Q593K	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	593					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TCGACTCCATCAGCTAACAGA	0.413000			T	RET	papillary thyroid								22	50					3.62473e-10	3.85213e-10	0.012319	1	0
POTEG	404785	broad.mit.edu	37	14	19566047	19566047	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:19566047A>G	ENST00000409832.3	+	6	1143	c.1091A>G	c.(1090-1092)cAg>cGg	p.Q364R	CTD-2311B13.5_ENST00000548748.1_lincRNA	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	364										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAAGAAAAACAGATGCTAAAA	0.313000													10	135					0	0	0.013537	0	0
ACBD3	64746	broad.mit.edu	37	1	226340098	226340098	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:226340098G>A	ENST00000366812.5	-	7	1367	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	RP11-275I14.4_ENST00000440540.1_RNA	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	438	GOLD.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		AGTGTTTGGAGAGTCTGTCCA	0.478000													67	110					0	0	0.014410	0	0
THRAP3	9967	broad.mit.edu	37	1	36752825	36752825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:36752825C>T	ENST00000354618.5	+	4	1218	c.994C>T	c.(994-996)Cag>Tag	p.Q332*	THRAP3_ENST00000469141.2_Nonsense_Mutation_p.Q332*	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	332	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCTCATCTCAGAAGGAGGA	0.517000			T	USP6	aneurysmal bone cysts								13	32					0	0	0.002450	0	0
YARS2	51067	broad.mit.edu	37	12	32906904	32906904	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:32906904G>A	ENST00000324868.8	-	2	922	c.895C>T	c.(895-897)Cca>Tca	p.P299S		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	299					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATTCAAATGGAGATGTCTTA	0.418000													33	69					0	0	0.003755	0	0
SASH3	54440	broad.mit.edu	37	X	128922525	128922525	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:128922525T>C	ENST00000356892.3	+	3	386	c.272T>C	c.(271-273)aTg>aCg	p.M91T		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	91										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGGGCAAGATGATGGTGAAG	0.572000													11	23					0	0	0.003163	0	0
MORC4	79710	broad.mit.edu	37	X	106219839	106219839	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:106219839C>T	ENST00000355610.4	-	9	1406	c.1132G>A	c.(1132-1134)Gac>Aac	p.D378N	MORC4_ENST00000535534.1_Missense_Mutation_p.D126N|MORC4_ENST00000255495.7_Missense_Mutation_p.D378N	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	378							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						TACTCAAAGTCTTGTTTGTTG	0.408000													13	43					0	0	0.003163	0	0
TOPBP1	11073	broad.mit.edu	37	3	133339155	133339155	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:133339155T>G	ENST00000260810.5	-	20	3346	c.3215A>C	c.(3214-3216)cAg>cCg	p.Q1072P		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1072					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TAACTGCTTCTGAAAGTTCTC	0.398000								Other conserved DNA damage response genes					32	19					0	0	0.004289	0	0
PDE3A	5139	broad.mit.edu	37	12	20799433	20799433	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:20799433G>A	ENST00000359062.3	+	11	2301	c.2261G>A	c.(2260-2262)aGa>aAa	p.R754K	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	754	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GATCATAACAGAATCCATGCC	0.413000													27	35					0	0	0.008361	0	0
INO80	54617	broad.mit.edu	37	15	41337108	41337108	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:41337108C>G	ENST00000361937.3	-	24	3325	c.2901G>C	c.(2899-2901)ttG>ttC	p.L967F	INO80_ENST00000401393.3_Missense_Mutation_p.L967F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	967	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTACCTTTAACAAAGGGCAGC	0.388000													7	29					0	0	0.001984	0	0
GALNT5	11227	broad.mit.edu	37	2	158165086	158165086	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:158165086A>C	ENST00000259056.4	+	9	3013	c.2528A>C	c.(2527-2529)cAa>cCa	p.Q843P		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	843	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CAGCTTCAACAATTTAATTAC	0.418000													117	248					0	0	0.014410	0	0
DGKH	160851	broad.mit.edu	37	13	42763216	42763216	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:42763216G>A	ENST00000261491.5	+	15	1704	c.1683G>A	c.(1681-1683)ttG>ttA	p.L561L	DGKH_ENST00000540693.1_Silent_p.L561L|DGKH_ENST00000379274.2_Silent_p.L425L|DGKH_ENST00000538674.1_Silent_p.L316L|DGKH_ENST00000536612.1_Silent_p.L425L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Silent_p.L561L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGCAGGCTTTGCACACAGATT	0.483000													8	32					0	0	0.006214	0	0
CHST7	56548	broad.mit.edu	37	X	46434113	46434113	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:46434113C>T	ENST00000276055.3	+	1	895	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	249					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGGTGGTCATCAAGGACGTGC	0.682000													12	14					0	0	0.010729	0	0
PDE3B	5140	broad.mit.edu	37	11	14666332	14666332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:14666332C>T	ENST00000282096.4	+	1	1064	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PDE3B_ENST00000534317.1_3'UTR|PDE3B_ENST00000455098.2_Silent_p.L237L	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	237					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCAGCCTCGGGTCGCTGC	0.692000													7	22					0	0	0.003080	0	0
KCNH8	131096	broad.mit.edu	37	3	19436626	19436626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:19436626C>T	ENST00000328405.2	+	7	1266	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	334						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAAGACAGTGCGCCTCTTGCG	0.478000													45	103					0	0	0.014410	0	0
LRIG2	9860	broad.mit.edu	37	1	113638961	113638961	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:113638961T>C	ENST00000361127.5	+	8	1263	c.1065T>C	c.(1063-1065)ttT>ttC	p.F355F		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		ATGGTGTATTTAGATTTCTTT	0.353000													32	51					0	0	0.003755	0	0
EIF3A	8661	broad.mit.edu	37	10	120802040	120802040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:120802040G>A	ENST00000369144.3	-	19	3119	c.2992C>T	c.(2992-2994)Ccc>Tcc	p.P998S	EIF3A_ENST00000541549.1_Missense_Mutation_p.P964S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	998	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATTCGTCTGGGAGGCCTGTCA	0.572000													61	94					0	0	0.014410	0	0
KRT33B	3884	broad.mit.edu	37	17	39521742	39521742	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:39521742C>T	ENST00000251646.3	-	4	701	c.652G>A	c.(652-654)Gct>Act	p.A218T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	218	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				AGGTCCACAGCGGGAGCAGCG	0.562000													16	34					0	0	0.004990	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102915919	102915919	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:102915919C>T	ENST00000312132.4	-	0	860																											ggactgccagcatgctgtcac	0.522000													7	7					0	0	0.001984	0	0
PSMD1	5707	broad.mit.edu	37	2	231936987	231936987	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:231936987C>T	ENST00000308696.6	+	7	901	c.739C>T	c.(739-741)Cag>Tag	p.Q247*	PSMD1_ENST00000409643.1_Nonsense_Mutation_p.Q247*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.Q247*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	247					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATGGCATATCAGATTTGTTT	0.403000													47	117					0	0	0.014410	0	0
C6orf47	57827	broad.mit.edu	37	6	31627076	31627076	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:31627076G>C	ENST00000375911.1	-	1	1473	c.649C>G	c.(649-651)Ctc>Gtc	p.L217V	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	217										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						TGTAGCCAGAGGCCCAGCGGT	0.637000													16	18					0	0	0.004990	0	0
C2CD3	26005	broad.mit.edu	37	11	73849870	73849870	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:73849870G>A	ENST00000334126.7	-	5	1076	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	C2CD3_ENST00000313663.7_Silent_p.L284L|C2CD3_ENST00000539061.1_Silent_p.L284L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	284						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAACTGTTCAGAAGGGACATC	0.438000													7	43					0	0	0.001984	0	0
SDCBP2	27111	broad.mit.edu	37	20	1291531	1291531	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:1291531T>C	ENST00000360779.3	-	8	910	c.737A>G	c.(736-738)aAa>aGa	p.K246R	SDCBP2_ENST00000381812.1_Missense_Mutation_p.K246R|SDCBP2_ENST00000381808.3_Missense_Mutation_p.K161R|SDCBP2_ENST00000339987.3_Missense_Mutation_p.K246R|SDCBP2_ENST00000467129.1_5'UTR	NM_080489.4	NP_536737.3	Q9H190	SDCB2_HUMAN	syndecan binding protein (syntenin) 2	246	PDZ 2.				intracellular signal transduction|intracellular transport|nervous system development	cytoplasm	protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	7						CATGATCTTTTTGTCCTAGGG	0.552000													9	20					0	0	0.004482	0	0
EXOC6	54536	broad.mit.edu	37	10	94757304	94757304	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:94757304A>G	ENST00000371552.4	+	19	2041	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	EXOC6_ENST00000260762.6_Missense_Mutation_p.D676G|EXOC6_ENST00000443748.2_Missense_Mutation_p.D573G|EXOC6_ENST00000371547.4_Missense_Mutation_p.D692G	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	676					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				ATGCTACTGGACAGTGAGTTA	0.378000													7	41					0	0	0.001984	0	0
FAM174B	400451	broad.mit.edu	37	15	93277246	93277246	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:93277246C>T	ENST00000556424.1	-	0	82																											CAGTGAGGTACCCCGGAATCG	0.592000													5	22					0	0	0.000602	0	0
NEUROD6	63974	broad.mit.edu	37	7	31378784	31378784	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:31378784C>A	ENST00000297142.3	-	2	421	c.99G>T	c.(97-99)aaG>aaT	p.K33N		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	33					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCTTTCTGGCTTCTTAATTT	0.448000													44	110					2.24893e-16	2.42039e-16	0.009718	1	0
FXR1	8087	broad.mit.edu	37	3	180630521	180630521	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:180630521C>T	ENST00000357559.4	+	1	432	c.48C>T	c.(46-48)taC>taT	p.Y16Y	FXR1_ENST00000445140.2_Silent_p.Y16Y|FXR1_ENST00000491062.1_Silent_p.Y16Y|FXR1_ENST00000491674.1_Silent_p.Y16Y|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000305586.7_5'UTR	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	16					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GGGCTTTCTACAAGGTACTGA	0.562000											OREG0015934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	113					0	0	0.014410	0	0
PLXNA1	5361	broad.mit.edu	37	3	126735421	126735421	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:126735421A>G	ENST00000393409.2	+	15	3076	c.3076A>G	c.(3076-3078)Atc>Gtc	p.I1026V	PLXNA1_ENST00000251772.4_Missense_Mutation_p.I1003V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1026	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGCGCTCCCATCATCATCAA	0.632000													15	216					0	0	0.006122	0	0
KLHL6	89857	broad.mit.edu	37	3	183209963	183209963	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:183209963G>A	ENST00000341319.3	-	7	1653	c.1618C>T	c.(1618-1620)Ctg>Ttg	p.L540L		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	540										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TGGGTCACCAGGCACCAGCTG	0.632000													26	33					0	0	0.003330	0	0
PPP1R10	5514	broad.mit.edu	37	6	30569384	30569384	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:30569384C>T	ENST00000376511.2	-	20	3317	c.2765G>A	c.(2764-2766)cGc>cAc	p.R922H		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	922					protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	p.R922H(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTTCTCATAGCGGCAGTTGCC	0.552000													12	14					0	0	0.002450	0	0
EXOC4	60412	broad.mit.edu	37	7	133622721	133622721	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:133622721G>T	ENST00000253861.4	+	14	2134	c.2105G>T	c.(2104-2106)cGt>cTt	p.R702L	EXOC4_ENST00000541309.1_5'UTR|EXOC4_ENST00000545148.1_Missense_Mutation_p.R312L|EXOC4_ENST00000539845.1_Missense_Mutation_p.R601L	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	702					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GACATCCTTCGTGACGTCAGT	0.458000													11	78					0.000673444	0.000692242	0.008291	1	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221193	20221193	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:20221193G>C	ENST00000361479.5	+	3	1048	c.980G>C	c.(979-981)aGa>aCa	p.R327T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R327T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	327					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACCGATGTCAGAGGCAGGAGG	0.512000													5	38					0	0	0.001984	0	0
CRNKL1	51340	broad.mit.edu	37	20	20020280	20020280	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:20020280G>A	ENST00000377340.2	-	12	2032	c.2001C>T	c.(1999-2001)atC>atT	p.I667I	CRNKL1_ENST00000377327.4_Silent_p.I655I|CRNKL1_ENST00000536226.1_Silent_p.I506I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	667					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						GTGGCTGACTGATGGCTAATT	0.378000													24	67					0	0	0.002780	0	0
ULK2	9706	broad.mit.edu	37	17	19705182	19705182	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:19705182C>G	ENST00000395544.4	-	16	1848	c.1349G>C	c.(1348-1350)gGa>gCa	p.G450A	ULK2_ENST00000580130.1_5'UTR|ULK2_ENST00000361658.2_Missense_Mutation_p.G450A	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	450					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GGAGCATGATCCCGGCCGGAG	0.507000													73	83					0	0	0.014410	0	0
FAT1	2195	broad.mit.edu	37	4	187628629	187628629	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:187628629T>C	ENST00000441802.2	-	2	2562	c.2353A>G	c.(2353-2355)Aca>Gca	p.T785A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	785	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TATTTGTCTGTTGTTTCACGG	0.433000										HNSCC(5;0.00058)			26	85					0	0	0.004656	0	0
CAPG	822	broad.mit.edu	37	2	85629268	85629268	+	Translation_Start_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:85629268T>C	ENST00000263867.4	-	2	250	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CAPG_ENST00000409724.1_Start_Codon_SNP_p.M1V|CAPG_ENST00000409670.1_Start_Codon_SNP_p.M1V|CAPG_ENST00000409921.1_Start_Codon_SNP_p.M1V	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	1					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GCTGTGTACATGCTGTCTTCA	0.522000													6	6					0	0	0.004482	0	0
SLC2A13	114134	broad.mit.edu	37	12	40499284	40499284	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:40499284G>A	ENST00000280871.4	-	1	377	c.327C>T	c.(325-327)ctC>ctT	p.L109L	SLC2A13_ENST00000380858.1_Silent_p.L109L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	109						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GCTGCCGCTTGAGCAGCAGCA	0.697000										HNSCC(50;0.14)			3	3					0	0	0.004672	0	0
ADCY7	113	broad.mit.edu	37	16	50332877	50332877	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:50332877C>T	ENST00000394697.2	+	8	1351	c.1011C>T	c.(1009-1011)ccC>ccT	p.P337P	ADCY7_ENST00000254235.3_Silent_p.P337P|ADCY7_ENST00000566433.2_Silent_p.P337P|ADCY7_ENST00000537579.1_Silent_p.P337P|ADCY7_ENST00000538642.1_Silent_p.P337P|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	337	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CGGGCCTGCCCGTGTCGCTGC	0.637000													28	39					0	0	0.006320	0	0
MCM8	84515	broad.mit.edu	37	20	5966679	5966679	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:5966679C>T	ENST00000378896.3	+	16	2442	c.2065C>T	c.(2065-2067)Ctt>Ttt	p.L689F	MCM8_ENST00000378886.2_Missense_Mutation_p.L729F|MCM8_ENST00000265187.4_Missense_Mutation_p.L673F|MCM8_ENST00000378883.1_Missense_Mutation_p.L642F	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	689					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TGCTCGAGTTCTTCAAGATTT	0.463000													25	39					0	0	0.004656	0	0
TMEM220	388335	broad.mit.edu	37	17	10628432	10628432	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:10628432A>G	ENST00000341871.3	-	4	647	c.183T>C	c.(181-183)agT>agC	p.S61S	TMEM220_ENST00000455996.2_Silent_p.S51S|TMEM220_ENST00000580186.1_5'UTR|TMEM220_ENST00000578345.1_Silent_p.S51S	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	61						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						TTGCAGAGATACTTTTCCAAA	0.388000													12	16					0	0	0.013537	0	0
NUP133	55746	broad.mit.edu	37	1	229625722	229625722	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:229625722G>A	ENST00000261396.3	-	9	1265	c.1174C>T	c.(1174-1176)Caa>Taa	p.Q392*	NUP133_ENST00000537506.1_Nonsense_Mutation_p.Q376*	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	392					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGATTATATTGAGTGACTTCT	0.318000													16	23					0	0	0.010504	0	0
ALPK3	57538	broad.mit.edu	37	15	85402570	85402570	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:85402570C>T	ENST00000258888.5	+	7	4687	c.4520C>T	c.(4519-4521)tCa>tTa	p.S1507L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1507	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTAGTGACTCAGTCTTGACA	0.572000													4	25					0	0	0.009096	0	0
PDCD4	27250	broad.mit.edu	37	10	112641080	112641080	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:112641080A>G	ENST00000393104.2	+	4	460	c.100A>G	c.(100-102)Att>Gtt	p.I34V	PDCD4_ENST00000280154.7_Missense_Mutation_p.I45V	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	45					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGGAAATTGGATTTCAGCATC	0.413000													23	88					0	0	0.002780	0	0
SLC38A9	153129	broad.mit.edu	37	5	54922436	54922436	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:54922436G>A	ENST00000396865.2	-	16	2163	c.1572C>T	c.(1570-1572)ctC>ctT	p.L524L	SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000416547.2_Silent_p.L400L|SLC38A9_ENST00000515629.1_Silent_p.L461L|SLC38A9_ENST00000512595.1_Silent_p.L461L|SLC38A9_ENST00000318672.3_Silent_p.L524L	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	524					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TTATATAGATGAGAGATGGGT	0.398000													32	58					0	0	0.004289	0	0
NAA15	80155	broad.mit.edu	37	4	140299923	140299923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:140299923G>A	ENST00000296543.5	+	17	2393	c.2070G>A	c.(2068-2070)ttG>ttA	p.L690L	NAA15_ENST00000398947.1_Silent_p.L690L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	690					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AGTTTCTTTTGATGCTACAAT	0.338000													13	30					0	0	0.013537	0	0
GAR1	54433	broad.mit.edu	37	4	110737358	110737358	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:110737358G>C	ENST00000226796.6	+	2	302	c.38G>C	c.(37-39)cGa>cCa	p.R13P	GAR1_ENST00000394631.3_Missense_Mutation_p.R13P	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	13	RGG-box 1.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGCTTTAATCGAggtggtgga	0.577000													22	44					0	0	0.012319	0	0
SLC12A8	84561	broad.mit.edu	37	3	124839572	124839572	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:124839572C>T	ENST00000430155.2	-	1	126	c.98G>A	c.(97-99)gGa>gAa	p.G33E	SLC12A8_ENST00000423114.2_Intron|SLC12A8_ENST00000465475.1_Intron|SLC12A8_ENST00000469902.1_Intron|SLC12A8_ENST00000393469.4_Intron|SLC12A8_ENST00000314584.7_Intron			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	0					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GCAGCCTCCTCCACGCATCGC	0.662000													27	7					0	0	0.003954	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963126	73963126	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:73963126C>T	ENST00000055682.6	-	3	1877	c.1266G>A	c.(1264-1266)aaG>aaA	p.K422K		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GCTTTGGATTCTTAAGTTGCT	0.428000													21	39					0	0	0.014323	0	0
OR6C2	341416	broad.mit.edu	37	12	55846108	55846108	+	Silent	SNP	A	A	G	rs142313431		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:55846108A>G	ENST00000322678.1	+	1	111	c.111A>G	c.(109-111)gtA>gtG	p.V37V	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGTTGAGTGTAACAGGGAACC	0.403000													20	42					0	0	0.010504	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501167	90501167	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:90501167C>T	ENST00000325643.5	+	4	1831	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		CAAAAAGTCTCAGGCTGTTCT	0.587000													54	62					0	0	0.014410	0	0
SLC52A2	79581	broad.mit.edu	37	8	145583820	145583820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:145583820C>T	ENST00000532887.1	+	3	1251	c.668C>T	c.(667-669)tCt>tTt	p.S223F	SLC52A2_ENST00000402965.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000527078.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000530047.1_Missense_Mutation_p.S223F|SLC52A2_ENST00000329994.2_Missense_Mutation_p.S223F|SLC52A2_ENST00000526752.1_Intron|SLC52A2_ENST00000540505.1_Missense_Mutation_p.S135F			Q9HAB3	RFT3_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	223						integral to plasma membrane	receptor activity|riboflavin transporter activity										CCACCACCATCTGTACCCACA	0.612000													40	39					0	0	0.008740	0	0
ILDR2	387597	broad.mit.edu	37	1	166926077	166926077	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:166926077T>G	ENST00000271417.3	-	3	447	c.392A>C	c.(391-393)cAa>cCa	p.Q131P	ILDR2_ENST00000525740.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000529387.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000529071.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000528703.1_Missense_Mutation_p.Q131P|ILDR2_ENST00000469934.2_Missense_Mutation_p.Q131P|ILDR2_ENST00000526687.1_Missense_Mutation_p.Q131P	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	131	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CTTTCCAATTTGAAGATCTGC	0.448000													8	44					0	0	0.004482	0	0
TMC8	147138	broad.mit.edu	37	17	76134245	76134245	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:76134245C>T	ENST00000318430.5	+	12	1883	c.1509C>T	c.(1507-1509)ctC>ctT	p.L503L	TMC8_ENST00000589691.1_Silent_p.L280L	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	503						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCGTCTTCCTCTTCCTCACCT	0.617000													13	66					0	0	0.002450	0	0
EXPH5	23086	broad.mit.edu	37	11	108383163	108383163	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:108383163C>G	ENST00000265843.4	-	6	3181	c.3071G>C	c.(3070-3072)aGa>aCa	p.R1024T	EXPH5_ENST00000428840.1_Missense_Mutation_p.R948T|EXPH5_ENST00000525344.1_Missense_Mutation_p.R1017T|EXPH5_ENST00000443411.1_Missense_Mutation_p.R836T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1024					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GCTTGATTTTCTTGGCAAGGT	0.398000													21	23					0	0	0.014323	0	0
DOCK4	9732	broad.mit.edu	37	7	111541741	111541741	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:111541741T>C	ENST00000428084.1	-	14	1581	c.1309A>G	c.(1309-1311)Acc>Gcc	p.T437A	DOCK4_ENST00000437633.1_Missense_Mutation_p.T437A|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	437	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTTCAGGGTTTGGCCACTA	0.358000													11	39					0	0	0.008291	0	0
VWA8	23078	broad.mit.edu	37	13	42189117	42189117	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:42189117C>T	ENST00000379310.3	-	38	4783	c.4715G>A	c.(4714-4716)gGa>gAa	p.G1572E		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CCAACCTGTTCCGCCAGCCCA	0.577000													9	42					0	0	0.004482	0	0
NCK1	4690	broad.mit.edu	37	3	136667120	136667120	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:136667120C>T	ENST00000469404.1	+	3	858	c.767C>T	c.(766-768)tCa>tTa	p.S256L	NCK1_ENST00000481752.1_Missense_Mutation_p.S320L|IL20RB_ENST00000484501.1_Intron|NCK1_ENST00000288986.2_Missense_Mutation_p.S320L	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	320					axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						TTCTCAGTATCACTAAAAGCA	0.318000													10	18					0	0	0.013537	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3386012	3386012	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:3386012C>T	ENST00000378378.4	+	6	1282	c.877C>T	c.(877-879)Ctc>Ttc	p.L293F	ARHGEF16_ENST00000378373.1_Missense_Mutation_p.L5F|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.L5F	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	293	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCGAGATCCTCACGTCGGA	0.627000													23	41					0	0	0.004656	0	0
TRPM1	4308	broad.mit.edu	37	15	31360175	31360175	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:31360175T>C	ENST00000542188.1	-	4	764	c.451A>G	c.(451-453)Atg>Gtg	p.M151V	TRPM1_ENST00000397795.2_Missense_Mutation_p.M112V|TRPM1_ENST00000256552.6_Missense_Mutation_p.M134V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	112					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGGGCTGCATCTCAAAGTTC	0.537000													22	81					0	0	0.014323	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634195	70634195	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:70634195C>T	ENST00000381269.2	-	2	1698	c.945G>A	c.(943-945)gaG>gaA	p.E315E	SLC8A3_ENST00000534137.1_Silent_p.E315E|SLC8A3_ENST00000356921.2_Silent_p.E315E|SLC8A3_ENST00000357887.3_Silent_p.E315E|SLC8A3_ENST00000528359.1_Silent_p.E315E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	315					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TCCGGATCATCTCTCTGCGGG	0.483000													14	44					0	0	0.003163	0	0
CORO1C	23603	broad.mit.edu	37	12	109052672	109052672	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:109052672A>C	ENST00000261401.3	-	5	644	c.472T>G	c.(472-474)Tgg>Ggg	p.W158G	CORO1C_ENST00000421578.2_Missense_Mutation_p.W53G|CORO1C_ENST00000420959.2_Missense_Mutation_p.W211G|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.W158G|CORO1C_ENST00000549772.1_Missense_Mutation_p.W164G	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	158					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						CCCACATTCCAGATGATAATG	0.413000													20	61					0	0	0.012319	0	0
DENND3	22898	broad.mit.edu	37	8	142175310	142175310	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:142175310C>G	ENST00000519811.1	+	11	1545	c.1475C>G	c.(1474-1476)tCt>tGt	p.S492C	DENND3_ENST00000424248.1_Missense_Mutation_p.S360C|DENND3_ENST00000262585.2_Missense_Mutation_p.S412C			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557000													51	71					0	0	0.014410	0	0
CUEDC1	404093	broad.mit.edu	37	17	55950043	55950043	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:55950043G>A	ENST00000577830.1	-	5	1178	c.765C>T	c.(763-765)ttC>ttT	p.F255F	CUEDC1_ENST00000360238.2_Silent_p.F255F|CUEDC1_ENST00000577840.1_Silent_p.F118F|CUEDC1_ENST00000407144.2_Silent_p.F255F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	255										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GAGCGAGGAGGAAGTCGCGGT	0.597000													5	37					0	0	0.001168	0	0
TOP3B	8940	broad.mit.edu	37	22	22322014	22322014	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:22322014C>T	ENST00000398793.2	-	8	1247	c.813G>A	c.(811-813)caG>caA	p.Q271Q	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Silent_p.Q271Q	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	271					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTAAAAACATCTGTGCGATCT	0.502000													31	73					0	0	0.003271	0	0
ABCC12	94160	broad.mit.edu	37	16	48180326	48180326	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:48180326C>T	ENST00000311303.3	-	1	355	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	ABCC12_ENST00000448542.1_Missense_Mutation_p.E4K|ABCC12_ENST00000416054.1_Missense_Mutation_p.E4K	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	4						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TAGGGTCCTTCACCCACCATC	0.552000													8	55					0	0	0.004482	0	0
SERPINE2	5270	broad.mit.edu	37	2	224856541	224856541	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:224856541G>T	ENST00000409840.3	-	5	1324	c.664C>A	c.(664-666)Cag>Aag	p.Q222K	SERPINE2_ENST00000258405.4_Missense_Mutation_p.Q222K|SERPINE2_ENST00000447280.2_Missense_Mutation_p.Q234K|SERPINE2_ENST00000409304.1_Missense_Mutation_p.Q222K			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	222					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		ACGGAGAGCTGGGCCAGCATT	0.527000													14	42					1.5842e-08	1.66893e-08	0.001855	1	0
MORC1	27136	broad.mit.edu	37	3	108690187	108690187	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:108690187A>G	ENST00000232603.5	-	25	2622	c.2540T>C	c.(2539-2541)tTa>tCa	p.L847S	MORC1_ENST00000483760.1_Missense_Mutation_p.L826S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	847					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTCACAACTTAATGCAGGTTC	0.383000													28	76					0	0	0.008361	0	0
LCLAT1	253558	broad.mit.edu	37	2	30790955	30790955	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:30790955G>C	ENST00000309052.4	+	6	864	c.655G>C	c.(655-657)Gct>Cct	p.A219P	LCLAT1_ENST00000540623.1_Missense_Mutation_p.A181P|LCLAT1_ENST00000319406.4_Missense_Mutation_p.A219P|LCLAT1_ENST00000359433.1_Missense_Mutation_p.A219P|LCLAT1_ENST00000379509.3_Missense_Mutation_p.A181P|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	219					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TAATGCATTTGCTGAAAAAAA	0.343000													25	46					0	0	0.005443	0	0
FOXI3	344167	broad.mit.edu	37	2	88751512	88751512	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:88751512G>A	ENST00000398142.3	-	0	619							A8MTJ6	FOXI3_HUMAN	forkhead box I3						epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)	2						TGCGCTGGTAGAAGGGGAAGC	0.617000													4	8					0	0	0.009096	0	0
TC2N	123036	broad.mit.edu	37	14	92258883	92258883	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:92258883G>A	ENST00000435962.2	-	9	1198	c.875C>T	c.(874-876)aCg>aTg	p.T292M	TC2N_ENST00000556018.1_Intron|TC2N_ENST00000340892.5_Missense_Mutation_p.T292M|TC2N_ENST00000360594.5_Missense_Mutation_p.T292M	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	292						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAATACAAACGTTTCCATAAA	0.254000													6	24					0	0	0.001984	0	0
GOLGA7	51125	broad.mit.edu	37	8	41355114	41355114	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:41355114C>T	ENST00000357743.4	+	2	399	c.198C>T	c.(196-198)ctC>ctT	p.L66L	GOLGA7_ENST00000518270.1_Silent_p.L66L|GOLGA7_ENST00000405786.2_Silent_p.L66L|GOLGA7_ENST00000520817.1_Silent_p.L66L	NM_001002296.1	NP_001002296.1	Q7Z5G4	GOGA7_HUMAN	golgin A7	66						Golgi membrane				breast(1)|large_intestine(1)	2	Ovarian(28;0.014)|Colorectal(14;0.0234)|Lung SC(25;0.211)	all_lung(54;0.000771)|Lung NSC(58;0.0031)|Hepatocellular(245;0.014)|Esophageal squamous(32;0.0559)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00596)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AGTCATATCTCGAAGGTTGTT	0.383000													21	112					0	0	0.014323	0	0
PDX1	3651	broad.mit.edu	37	13	28494606	28494606	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:28494606G>A	ENST00000381033.4	+	1	450	c.331G>A	c.(331-333)Gag>Aag	p.E111K	PDX1-AS1_ENST00000499662.2_RNA	NM_000209.3	NP_000200.1	P52945	PDX1_HUMAN	pancreatic and duodenal homeobox 1	111					detection of glucose|generation of precursor metabolites and energy|insulin secretion|nitric oxide mediated signal transduction|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|type B pancreatic cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity					all_cancers(110;0.175)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CGTCCTGGAGGAGCCCAACCG	0.701000													6	6					0	0	0.001984	0	0
NAIP	4671	broad.mit.edu	37	5	70308505	70308505	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:70308505C>A	ENST00000517649.1	-	4	528	c.238G>T	c.(238-240)Gag>Tag	p.E80*	NAIP_ENST00000508426.2_Nonsense_Mutation_p.E80*|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Nonsense_Mutation_p.E80*|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	80					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GCCGCCATCTCCTGTGGTATC	0.488000													25	86					1.96895e-08	2.06654e-08	0.002780	1	0
GOLGB1	2804	broad.mit.edu	37	3	121415253	121415253	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:121415253C>T	ENST00000393667.3	-	13	4227	c.4117G>A	c.(4117-4119)Gaa>Aaa	p.E1373K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1368K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1368					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCAGGCTTTCGGCATGGACT	0.398000													288	141					0	0	0.014410	0	0
RBM27	54439	broad.mit.edu	37	5	145634557	145634557	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:145634557C>T	ENST00000265271.5	+	10	1662	c.1496C>T	c.(1495-1497)tCt>tTt	p.S499F	RBM27_ENST00000506502.1_Missense_Mutation_p.S444F	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	499					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTACTAGTTCTGGTAGATCT	0.408000													16	31					0	0	0.007413	0	0
LIMA1	51474	broad.mit.edu	37	12	50571638	50571638	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:50571638G>A	ENST00000547825.1	-	5	1852	c.583C>T	c.(583-585)Cct>Tct	p.P195S	LIMA1_ENST00000341247.4_Missense_Mutation_p.P497S|LIMA1_ENST00000552823.1_Missense_Mutation_p.P337S|LIMA1_ENST00000552491.1_Missense_Mutation_p.P194S|LIMA1_ENST00000552783.1_Missense_Mutation_p.P338S|LIMA1_ENST00000394943.3_Missense_Mutation_p.P498S|LIMA1_ENST00000552909.1_Missense_Mutation_p.P336S	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	497					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TTAGCAATAGGGGCATCTTCT	0.522000													45	85					0	0	0.009718	0	0
DLL1	28514	broad.mit.edu	37	6	170597489	170597489	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:170597489C>T	ENST00000366756.3	-	4	841	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	170					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		TACTTGAGGTCCGTGCGGCCG	0.627000													21	21					0	0	0.014323	0	0
TTC19	54902	broad.mit.edu	37	17	15903432	15903432	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:15903432C>T	ENST00000261647.5	+	2	654	c.185C>T	c.(184-186)gCg>gTg	p.A62V	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Splice_Site_p.A183V	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	62					cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding			central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTTCCCGCAGCGCTCGCCTGG	0.796000													4	4					0	0	0.009096	0	0
RBM12B	389677	broad.mit.edu	37	8	94747139	94747139	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:94747139C>G	ENST00000399300.2	-	3	1713	c.1500G>C	c.(1498-1500)caG>caC	p.Q500H	RBM12B_ENST00000517700.1_Missense_Mutation_p.Q500H|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	500							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GCTCACGTGACTGTGAGCGAG	0.408000													23	88					0	0	0.012319	0	0
KCNH6	81033	broad.mit.edu	37	17	61615788	61615788	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:61615788C>T	ENST00000583023.1	+	8	1730	c.1719C>T	c.(1717-1719)ccC>ccT	p.P573P	KCNH6_ENST00000581784.1_Silent_p.P520P|KCNH6_ENST00000456941.2_Silent_p.P520P|KCNH6_ENST00000314672.5_Silent_p.P573P	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	573					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGGGCTTCCCCGAGTGCCTGC	0.731000													8	13					0	0	0.008291	0	0
TCF20	6942	broad.mit.edu	37	22	42607770	42607770	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:42607770G>A	ENST00000359486.3	-	1	3678	c.3542C>T	c.(3541-3543)tCc>tTc	p.S1181F	TCF20_ENST00000335626.4_Missense_Mutation_p.S1181F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1181	Leucine-zipper.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAACTTCTGGGAGCCATGCTT	0.532000													22	59					0	0	0.010504	0	0
AF015720.3	0	broad.mit.edu	37	21	37093072	37093072	+	RNA	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:37093072G>T	ENST00000412240.1	-	0	40				MIR802_ENST00000390235.1_RNA																							GCAACAAGGAGAATCTTTGTC	0.433000													11	38					6.40141e-05	6.65275e-05	0.010729	1	0
ITPR1	3708	broad.mit.edu	37	3	4818947	4818947	+	Splice_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:4818947G>A	ENST00000354582.6	+	47	6485		c.e47-1		ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000423119.2_Splice_Site|ITPR1_ENST00000456211.2_Splice_Site|ITPR1_ENST00000357086.4_Splice_Site|ITPR1_ENST00000443694.2_Splice_Site|ITPR1_ENST00000302640.8_Splice_Site			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1						activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCTTTGCTCAGAACTGCATAG	0.448000													3	4					0	0	0.004672	0	0
MAP4K3	8491	broad.mit.edu	37	2	39664039	39664039	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:39664039G>A	ENST00000263881.3	-	1	414	c.90C>T	c.(88-90)gtC>gtT	p.V30V	MAP4K3_ENST00000341681.5_Silent_p.V30V|MAP4K3_ENST00000484274.1_Silent_p.V30V|AC007246.3_ENST00000426083.1_RNA	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	30	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTACCTTGTAGACGTCGCCGT	0.701000													8	14					0	0	0.004482	0	0
SNF8	11267	broad.mit.edu	37	17	47013602	47013602	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:47013602G>A	ENST00000502492.1	-	5	734	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	SNF8_ENST00000514089.1_5'UTR|SNF8_ENST00000290330.3_Silent_p.L118L|AC091133.1_ENST00000435491.1_RNA			Q96H20	SNF8_HUMAN	SNF8, ESCRT-II complex subunit	118					cellular membrane organization|endosome transport|protein transport|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytosol|late endosome membrane|transcription factor complex	transcription factor binding			breast(1)|endometrium(1)|lung(1)	3						AAAGTTATCAGACCTGTTTGG	0.428000													3	24					0	0	0.009096	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493296	20493296	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:20493296C>T	ENST00000202677.7	-	32	4724	c.4717G>A	c.(4717-4719)Gag>Aag	p.E1573K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGATATACTCATCCTCTTGA	0.468000													5	51					0	0	0.001168	0	0
ITGB5	3693	broad.mit.edu	37	3	124487931	124487931	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:124487931G>A	ENST00000296181.4	-	12	2242	c.1946C>T	c.(1945-1947)tCt>tTt	p.S649F	ITGB5_ENST00000461306.1_5'UTR	NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	649					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		AGGTTTCCCAGAGTGGAGCAG	0.557000													138	46					0	0	0.014410	0	0
FGB	2244	broad.mit.edu	37	4	155487699	155487699	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:155487699C>A	ENST00000302068.4	+	3	428	c.365C>A	c.(364-366)cCa>cAa	p.P122Q	FGB_ENST00000502545.1_3'UTR|FGB_ENST00000509493.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	122					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAGGAAAGGCCAATCAGAAAT	0.418000													15	34					0.000308642	0.000318029	0.003163	1	0
CHD5	26038	broad.mit.edu	37	1	6189100	6189100	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:6189100C>T	ENST00000262450.3	-	23	3516	c.3417G>A	c.(3415-3417)caG>caA	p.Q1139Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1139	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCTTCTTGTTCTGGCCGATGC	0.642000													18	26					0	0	0.008871	0	0
SPOPL	339745	broad.mit.edu	37	2	139308578	139308578	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:139308578C>T	ENST00000280098.4	+	4	685	c.306C>T	c.(304-306)ttC>ttT	p.F102F		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	102	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GAGCAAAATTCAAATTTTCCC	0.353000													24	56					0	0	0.004656	0	0
BIN1	274	broad.mit.edu	37	2	127834283	127834283	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:127834283C>T	ENST00000316724.5	-	2	496		c.e2-1		BIN1_ENST00000259238.4_Splice_Site|BIN1_ENST00000348750.4_Splice_Site|BIN1_ENST00000393041.3_Splice_Site|BIN1_ENST00000357970.3_Splice_Site|BIN1_ENST00000352848.3_Splice_Site|BIN1_ENST00000376113.2_Splice_Site|BIN1_ENST00000351659.3_Splice_Site|BIN1_ENST00000409400.1_Splice_Site|BIN1_ENST00000346226.3_Splice_Site|BIN1_ENST00000393040.3_Splice_Site	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1						cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TCTGGAGAACCTGCCGAAGCC	0.547000													51	79					0	0	0.014410	0	0
ANGPT4	51378	broad.mit.edu	37	20	896835	896835	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:896835A>G	ENST00000381922.3	-	1	125	c.23T>C	c.(22-24)cTg>cCg	p.L8P	ANGPT4_ENST00000546022.1_Missense_Mutation_p.L8P	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	8					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTGCCCTGCAGCATGGCTAG	0.602000													17	42					0	0	0.010504	0	0
ITIH1	3697	broad.mit.edu	37	3	52812034	52812034	+	Splice_Site	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:52812034G>T	ENST00000273283.2	+	2	162		c.e2+1		ITIH1_ENST00000542827.1_Splice_Site	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1						hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTGGACACCGTGAGTAAGAG	0.562000													33	71					1.22674e-20	1.32363e-20	0.008740	1	0
RAB11FIP2	22841	broad.mit.edu	37	10	119799820	119799820	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:119799820C>T	ENST00000355624.3	-	2	1049	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.E204K|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	204					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		ATCTGTATTTCACCACTTGAA	0.413000													35	52					0	0	0.003271	0	0
SREBF1	6720	broad.mit.edu	37	17	17716923	17716923	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:17716923A>G	ENST00000355815.4	-	18	3321	c.3152T>C	c.(3151-3153)cTg>cCg	p.L1051P	SREBF1_ENST00000261646.5_Missense_Mutation_p.L1021P|SREBF1_ENST00000338854.5_Missense_Mutation_p.L1021P|SREBF1_ENST00000395757.1_Missense_Mutation_p.L767P	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	1021					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CAGCCGCCTCAGGCTGCTCAG	0.711000													2	5					0	0	0.004672	0	0
TRMT61A	115708	broad.mit.edu	37	14	103996324	103996324	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:103996324C>G	ENST00000389749.4	+	2	116	c.9C>G	c.(7-9)ttC>ttG	p.F3L		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	3						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						CCATGAGCTTCGTGGCATACG	0.617000													3	12					0	0	0.000602	0	0
LSM11	134353	broad.mit.edu	37	5	157171172	157171172	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:157171172G>A	ENST00000286307.5	+	1	470	c.414G>A	c.(412-414)agG>agA	p.R138R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	138					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGAGCAGGAAGGCGCCAC	0.751000													3	4					0	0	0.004672	0	0
TBCD	6904	broad.mit.edu	37	17	80899327	80899327	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:80899327C>T	ENST00000355528.4	+	38	3662	c.3532C>T	c.(3532-3534)Ctg>Ttg	p.L1178L	TBCD_ENST00000576691.1_3'UTR|TBCD_ENST00000539345.2_Silent_p.L1216L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	1178					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GTGTGACCTTCTGGGCGTACC	0.627000													3	8					0	0	0.004672	0	0
COPS2	9318	broad.mit.edu	37	15	49437268	49437268	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:49437268G>C	ENST00000388901.5	-	2	135	c.62C>G	c.(61-63)tCt>tGt	p.S21C	COPS2_ENST00000299259.6_Missense_Mutation_p.S21C|COPS2_ENST00000542928.1_Intron	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	21					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ACTATCTTCAGAGTATTCCTG	0.348000													14	41					0	0	0.003163	0	0
FAM53B	9679	broad.mit.edu	37	10	126370704	126370704	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:126370704G>A	ENST00000337318.3	-	4	589	c.378C>T	c.(376-378)tgC>tgT	p.C126C	RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000392754.3_Silent_p.C126C|FAM53B_ENST00000280780.6_Silent_p.C126C	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	126										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		ATGATGTCCGGCAACTGGACA	0.602000													3	17					0	0	0.004672	0	0
DSTYK	25778	broad.mit.edu	37	1	205180623	205180623	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:205180623G>A	ENST00000367162.3	-	1	71	c.41C>T	c.(40-42)tCg>tTg	p.S14L	DSTYK_ENST00000367160.4_Missense_Mutation_p.S14L|DSTYK_ENST00000367161.3_Missense_Mutation_p.S14L	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	14						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GCCGGGACCCGAGACGGGCTC	0.756000													4	5					0	0	0.009096	0	0
CHD1	1105	broad.mit.edu	37	5	98195774	98195774	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:98195774T>C	ENST00000284049.3	-	32	4577		c.e32-2			NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1						regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CACAGGTTTCTAGAAGAATTT	0.313000													7	31					0	0	0.001984	0	0
TMEM143	55260	broad.mit.edu	37	19	48867179	48867179	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:48867179G>A	ENST00000541566.1	-	1	16	c.15C>T	c.(13-15)ctC>ctT	p.L5L	TMEM143_ENST00000377431.2_5'UTR|TMEM143_ENST00000436660.2_5'UTR|TMEM143_ENST00000293261.3_5'UTR|TMEM143_ENST00000598012.1_5'UTR|TMEM143_ENST00000435956.3_5'UTR			Q96AN5	TM143_HUMAN	transmembrane protein 143	0						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GACTGTCATTGAGCCTCCTGC	0.602000													99	47					0	0	0.014410	0	0
TP53BP2	7159	broad.mit.edu	37	1	223986194	223986194	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:223986194C>T	ENST00000391878.2	-	13	2052	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Silent_p.P557P	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	551					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P428P(1)|p.P557P(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GCAGCACTCTCGGCTGCTGCC	0.542000													47	116					0	0	0.014410	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962754	69962754	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:69962754C>T	ENST00000305231.7	+	1	562	c.516C>T	c.(514-516)ctC>ctT	p.L172L	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.L172L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	172					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGTACAGTCTCAGCTTCTCTC	0.398000													19	65					0	0	0.008871	0	0
GOLGA3	2802	broad.mit.edu	37	12	133351795	133351795	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:133351795T>G	ENST00000204726.3	-	22	4633	c.4075A>C	c.(4075-4077)Aac>Cac	p.N1359H	GOLGA3_ENST00000450791.2_Missense_Mutation_p.N1359H|GOLGA3_ENST00000456883.2_Missense_Mutation_p.N1359H	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1359	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCTTCATGTTGTTCTTCAGC	0.582000													16	50					0	0	0.003163	0	0
SLC16A13	201232	broad.mit.edu	37	17	6941694	6941694	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:6941694C>T	ENST00000308027.6	+	3	875	c.567C>T	c.(565-567)ctC>ctT	p.L189L		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	189						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGCTCTCCTCCGCCCACCCT	0.657000													32	44					0	0	0.012213	0	0
WDR76	79968	broad.mit.edu	37	15	44127283	44127283	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:44127283G>A	ENST00000263795.6	+	3	557	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	WDR76_ENST00000381246.2_Missense_Mutation_p.E99K	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	163										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GTCACCCTACGAAAGGAAGAG	0.358000													8	28					0	0	0.003080	0	0
ADH4	127	broad.mit.edu	37	4	100047780	100047780	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:100047780G>A	ENST00000508393.1	-	9	1305	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000265512.7_Silent_p.I361I|ADH4_ENST00000505590.1_Silent_p.I380I|ADH4_ENST00000423445.1_Silent_p.I380I			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	361				F -> FGRCQEQFRILSD (in Ref. 1; AAA51595).	alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	ATGCCTCACTGATTTTGTCAA	0.353000													17	46					0	0	0.014323	0	0
RNF2	6045	broad.mit.edu	37	1	185056735	185056735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:185056735G>A	ENST00000367510.3	+	2	338	c.50G>A	c.(49-51)tGg>tAg	p.W17*	RNF2_ENST00000367509.4_Nonsense_Mutation_p.W17*	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	17	Interaction with HIP2.				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		AGCAAAACATGGGAACTCAGT	0.388000													26	66					0	0	0.010818	0	0
FAM83D	81610	broad.mit.edu	37	20	37570635	37570635	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:37570635A>G	ENST00000217429.4	+	2	648	c.607A>G	c.(607-609)Atc>Gtc	p.I203V		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	173					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				GTTCACAGACATCGACATCTT	0.478000													25	58					0	0	0.004656	0	0
MS4A14	84689	broad.mit.edu	37	11	60184148	60184148	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:60184148G>A	ENST00000300187.6	+	5	1984	c.1707G>A	c.(1705-1707)caG>caA	p.Q569Q	MS4A14_ENST00000531787.1_Silent_p.Q457Q|MS4A14_ENST00000531783.1_Silent_p.Q602Q|MS4A14_ENST00000395005.2_Silent_p.Q552Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	569	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CTGAAGATCAGCAAGCCAAAG	0.438000													17	8					0	0	0.004007	0	0
NKX2-8	26257	broad.mit.edu	37	14	37050400	37050400	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:37050400G>A	ENST00000258829.5	-	2	644	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	143					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		CCTGGAGCGCGAGCGCGCTTC	0.701000													4	6					0	0	0.000602	0	0
ARID4A	5926	broad.mit.edu	37	14	58820410	58820410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:58820410G>A	ENST00000355431.3	+	17	2063	c.1690G>A	c.(1690-1692)Gag>Aag	p.E564K	ARID4A_ENST00000395168.3_Missense_Mutation_p.E564K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E564K|ARID4A_ENST00000553355.1_3'UTR|ARID4A_ENST00000431317.2_Missense_Mutation_p.E564K	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	564					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTCTGAAGGAGAGGAAGATGA	0.358000													11	16					0	0	0.010729	0	0
ASPM	259266	broad.mit.edu	37	1	197111797	197111797	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:197111797C>G	ENST00000367409.4	-	3	1841	c.1585G>C	c.(1585-1587)Gaa>Caa	p.E529Q	ASPM_ENST00000294732.7_Missense_Mutation_p.E529Q	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	529					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						ATTACTTTTTCATGTTCACCC	0.313000													31	95					0	0	0.009535	0	0
DPP3	10072	broad.mit.edu	37	11	66272161	66272161	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:66272161G>A	ENST00000532677.1	+	17	2415	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	DPP3_ENST00000531863.1_Missense_Mutation_p.E673K|DPP3_ENST00000541961.1_Missense_Mutation_p.E653K|DPP3_ENST00000453114.1_Missense_Mutation_p.E653K|DPP3_ENST00000530165.1_Missense_Mutation_p.E623K|DPP3_ENST00000360510.2_Missense_Mutation_p.E653K	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	653					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						TGCGCCCCCCGAGTGCTTCCT	0.572000													28	73					0	0	0.004656	0	0
IQSEC2	23096	broad.mit.edu	37	X	53268459	53268459	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:53268459C>A	ENST00000396435.3	-	11	3233	c.3033G>T	c.(3031-3033)caG>caT	p.Q1011H	IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1001H|IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q806H	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1001	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCTTCTTCTTCTGGAAAATTT	0.498000											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	27					0.000308642	0.000318029	0.003163	1	0
PEAK1	79834	broad.mit.edu	37	15	77406944	77406944	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:77406944T>G	ENST00000560626.2	-	7	5270	c.4795A>C	c.(4795-4797)Atc>Ctc	p.I1599L	PEAK1_ENST00000312493.4_Missense_Mutation_p.I1599L			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1599	Protein kinase.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ATCTCATAGATGAGGATGCCT	0.547000													16	28					0	0	0.003163	0	0
SETDB2	83852	broad.mit.edu	37	13	50050956	50050956	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:50050956A>T	ENST00000354234.4	+	6	1556	c.650A>T	c.(649-651)cAg>cTg	p.Q217L	SETDB2_ENST00000258672.5_Missense_Mutation_p.Q217L|SETDB2_ENST00000317257.8_Missense_Mutation_p.Q229L	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	229	MBD.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ACCTATGTTCAGTTGGCTCGG	0.378000													34	49					0	0	0.013726	0	0
TEP1	7011	broad.mit.edu	37	14	20871547	20871547	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:20871547C>G	ENST00000262715.5	-	7	1295	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	TEP1_ENST00000556935.1_Missense_Mutation_p.E311Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	419	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TTTCTCTGCTCTTCTCTGAGA	0.408000													65	97					0	0	0.014410	0	0
MAGEA11	4110	broad.mit.edu	37	X	148797576	148797576	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:148797576G>A	ENST00000355220.5	+	5	532	c.430G>A	c.(430-432)Gag>Aag	p.E144K	MAGEA11_ENST00000333104.4_Missense_Mutation_p.E115K	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	144						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCTCCAAGCTGAGGAGCAGGA	0.577000													10	28					0	0	0.008291	0	0
GPR151	134391	broad.mit.edu	37	5	145895361	145895361	+	Missense_Mutation	SNP	G	G	T	rs147138565	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:145895361G>T	ENST00000311104.2	-	1	392	c.316C>A	c.(316-318)Cta>Ata	p.L106I		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	106						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCAGCCTAGATCCCAAACA	0.507000													14	60					1.5842e-08	1.66893e-08	0.001855	1	0
ZBTB21	49854	broad.mit.edu	37	21	43413477	43413477	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:43413477G>A	ENST00000310826.5	-	3	911	c.728C>T	c.(727-729)tCa>tTa	p.S243L	ZBTB21_ENST00000398505.3_Missense_Mutation_p.S243L|ZBTB21_ENST00000398511.3_Missense_Mutation_p.S243L|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398499.1_Missense_Mutation_p.S243L	NM_001098402.1	NP_001091872.1			zinc finger and BTB domain containing 21																		CAGAGGCTTTGAAGGCAACAC	0.428000													14	17					0	0	0.001855	0	0
TIMP4	7079	broad.mit.edu	37	3	12195844	12195844	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:12195844G>A	ENST00000287814.4	-	4	970	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	154	NTR.						metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						CCACAGTTCAGATGGTAGTGA	0.473000													72	157					0	0	0.014410	0	0
FAM193A	8603	broad.mit.edu	37	4	2664635	2664635	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:2664635G>A	ENST00000324666.5	+	9	1294	c.943G>A	c.(943-945)Gat>Aat	p.D315N	FAM193A_ENST00000505311.1_Missense_Mutation_p.D315N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D315N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D315N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D337N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	315										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GAGTAATTATGATGATACCGA	0.453000													18	45					0	0	0.006122	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697834	17697834	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:17697834A>G	ENST00000399080.2	-	1	1872	c.1849T>C	c.(1849-1851)Tat>Cat	p.Y617H		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	617										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTTGGATACTTCAAATAA	0.269000													8	9					0	0	0.003080	0	0
TTN	7273	broad.mit.edu	37	2	179439443	179439443	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:179439443T>C	ENST00000589042.1	-	326	71640	c.71416A>G	c.(71416-71418)Aga>Gga	p.R23806G	TTN_ENST00000591111.1_Missense_Mutation_p.R22165G|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R14866G|TTN_ENST00000460472.2_Missense_Mutation_p.R14741G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R14933G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21238G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22165	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCCATATCTATTCTGAGCT	0.463000													32	55					0	0	0.003271	0	0
TROAP	10024	broad.mit.edu	37	12	49719543	49719543	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:49719543C>G	ENST00000551245.1	+	5	620	c.509C>G	c.(508-510)tCt>tGt	p.S170C	TROAP_ENST00000257909.3_Missense_Mutation_p.S170C			Q12815	TROAP_HUMAN	trophinin associated protein	170					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GTTCGGGCCTCTGCATATTTG	0.622000													12	36					0	0	0.013537	0	0
PUM2	23369	broad.mit.edu	37	2	20455083	20455083	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:20455083T>G	ENST00000361078.2	-	17	2670	c.2648A>C	c.(2647-2649)cAt>cCt	p.H883P	PUM2_ENST00000536417.1_Missense_Mutation_p.H825P|PUM2_ENST00000403432.1_Missense_Mutation_p.H881P|PUM2_ENST00000338086.5_Missense_Mutation_p.H881P|PUM2_ENST00000319801.5_Missense_Mutation_p.H804P			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	883	PUM-HD.				regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCATAAGGATGAGTTGAAAG	0.383000													14	26					0	0	0.002450	0	0
PRMT10	90826	broad.mit.edu	37	4	148605049	148605049	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:148605049C>T	ENST00000322396.6	-	1	332	c.90G>A	c.(88-90)caG>caA	p.Q30Q	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	30						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						GCTCTGCGCTCTGCAAGGACC	0.692000													15	34					0	0	0.002450	0	0
UNK	85451	broad.mit.edu	37	17	73813469	73813469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:73813469C>T	ENST00000293218.3	+	10	1395	c.1395C>T	c.(1393-1395)tcC>tcT	p.S465S	UNK_ENST00000589666.1_Silent_p.S389S			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	389							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CACCGGGCTCCATCAGGAAGC	0.657000													20	83					0	0	0.002780	0	0
GIGYF2	26058	broad.mit.edu	37	2	233721509	233721509	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:233721509C>T	ENST00000373566.3	+	30	4102	c.3905C>T	c.(3904-3906)tCa>tTa	p.S1302L	GIGYF2_ENST00000409547.1_Missense_Mutation_p.S1280L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S1280L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S1302L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S1274L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S1301L			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1280					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAGGATTTTCAGTCAATGCA	0.507000													32	66					0	0	0.003271	0	0
SERAC1	84947	broad.mit.edu	37	6	158565401	158565401	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:158565401C>T	ENST00000367102.2	-	7	680	c.539G>A	c.(538-540)gGt>gAt	p.G180D	SERAC1_ENST00000367101.1_Missense_Mutation_p.G180D|SERAC1_ENST00000367104.3_Missense_Mutation_p.G180D			Q96JX3	SRAC1_HUMAN	serine active site containing 1	180					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		TCGTGCCAAACCAATAAGAGT	0.343000													18	19					0	0	0.007413	0	0
MUC17	140453	broad.mit.edu	37	7	100684143	100684143	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:100684143C>T	ENST00000306151.4	+	3	9510	c.9446C>T	c.(9445-9447)tCt>tTt	p.S3149F		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3149	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)					CCTACAACTTCTGAAGGTACC	0.488000													68	311					0	0	0.014410	0	0
DCHS2	54798	broad.mit.edu	37	4	155305519	155305519	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:155305519C>T	ENST00000357232.4	-	2	234		c.e2+1		DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		actgacctcacctcagtttcc	0.502000													11	32					0	0	0.002450	0	0
PDCD5	9141	broad.mit.edu	37	19	33076796	33076796	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:33076796G>A	ENST00000419343.3	+	4	302	c.241G>A	c.(241-243)Gga>Aga	p.G81R	PDCD5_ENST00000592786.1_Intron|PDCD5_ENST00000379316.3_Intron|PDCD5_ENST00000586035.1_Missense_Mutation_p.G43R|PDCD5_ENST00000590247.2_Missense_Mutation_p.G81R			O14737	PDCD5_HUMAN	programmed cell death 5						apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					GGCAAGATATGGACAACTAAG	0.358000													18	102					0	0	0.012319	0	0
HSPA2	3306	broad.mit.edu	37	14	65008648	65008648	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:65008648G>C	ENST00000247207.6	+	1	1463	c.1081G>C	c.(1081-1083)Gag>Cag	p.E361Q	HSPA2_ENST00000394709.1_Missense_Mutation_p.E361Q	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	361					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CAACGGCAAGGAGCTGAACAA	0.602000													15	42					0	0	0.003163	0	0
TDRD5	163589	broad.mit.edu	37	1	179621324	179621324	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:179621324C>T	ENST00000444136.1	+	13	2402	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	TDRD5_ENST00000294848.8_Missense_Mutation_p.R718C|TDRD5_ENST00000367614.1_Missense_Mutation_p.R718C	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	718					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GAGTGAGTTACGTATCTTGGT	0.353000													12	25					0	0	0.013537	0	0
DEFB127	140850	broad.mit.edu	37	20	139536	139536	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:139536C>T	ENST00000382388.3	+	2	246	c.171C>T	c.(169-171)atC>atT	p.I57I		NM_139074.3	NP_620713.1	Q9H1M4	DB127_HUMAN	defensin, beta 127	57					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCCTCAATATCAAGGAACTGG	0.393000													12	14					0	0	0.003163	0	0
LAMTOR5	10542	broad.mit.edu	37	1	110950397	110950397	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:110950397G>A	ENST00000256644.4	-	1	167	c.92C>T	c.(91-93)tCc>tTc	p.S31F	LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000590413.1_RNA	NM_006402.2	NP_006393.2			late endosomal/lysosomal adaptor, MAPK and MTOR activator 5																		TTCTTTACTGGAAAACATCAC	0.622000													11	26					0	0	0.008291	0	0
ADM	133	broad.mit.edu	37	11	10327902	10327902	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:10327902G>A	ENST00000528655.1	+	3	889	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	ADM_ENST00000278175.5_Missense_Mutation_p.R91Q|ADM_ENST00000526492.1_Silent_p.P101P|ADM_ENST00000534464.1_Missense_Mutation_p.R44Q|ADM_ENST00000530439.1_Missense_Mutation_p.R23Q|ADM_ENST00000525063.1_Missense_Mutation_p.R91Q			P35318	ADML_HUMAN	adrenomedullin	91					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCCCGCATCCGAGTCAAGCGC	0.647000													20	23					0	0	0.012319	0	0
IQGAP1	8826	broad.mit.edu	37	15	90976974	90976974	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:90976974T>C	ENST00000268182.5	+	5	538	c.414T>C	c.(412-414)gaT>gaC	p.D138D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	138	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAACTACAGATATCTATGATC	0.338000													22	62					0	0	0.003330	0	0
UGT2A3	79799	broad.mit.edu	37	4	69796299	69796299	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:69796299T>G	ENST00000251566.4	-	5	1299	c.1269A>C	c.(1267-1269)ttA>ttC	p.L423F	UGT2A3_ENST00000420231.2_Missense_Mutation_p.L134F	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	423						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCCTCAGTAAATCTTCGC	0.383000													13	71					0	0	0.001855	0	0
PDE12	201626	broad.mit.edu	37	3	57545080	57545080	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:57545080G>A	ENST00000311180.8	+	2	1455	c.1352G>A	c.(1351-1353)tGt>tAt	p.C451Y	PDE12_ENST00000487257.1_Missense_Mutation_p.C451Y	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	451							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AAAAGGATATGTGTTGCTAAT	0.358000													13	67					0	0	0.001855	0	0
RLN2	6019	broad.mit.edu	37	9	5304391	5304391	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:5304391G>A	ENST00000381627.3	-	1	578	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	RLN2_ENST00000308420.3_Nonsense_Mutation_p.Q64*	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	64					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGGTGTCTGAGGAGCATCT	0.597000													6	7					0	0	0.001168	0	0
BOC	91653	broad.mit.edu	37	3	113003353	113003353	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:113003353C>T	ENST00000495514.1	+	17	3529	c.2825C>T	c.(2824-2826)tCg>tTg	p.S942L	BOC_ENST00000355385.3_Missense_Mutation_p.S942L|BOC_ENST00000273395.4_Missense_Mutation_p.S943L			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	942					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGCTGCCCCTCGGCTGCAGTG	0.647000													43	37					0	0	0.009718	0	0
BRD7	29117	broad.mit.edu	37	16	50359717	50359717	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:50359717C>T	ENST00000394688.3	-	11	1432	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	BRD7_ENST00000394689.2_Missense_Mutation_p.D425N			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	425					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				AAATCAGAATCATCCTTGCTG	0.338000													8	32					0	0	0.003080	0	0
SLC17A9	63910	broad.mit.edu	37	20	61588228	61588228	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:61588228G>A	ENST00000370349.3	+	3	357	c.153G>A	c.(151-153)tgG>tgA	p.W51*	SLC17A9_ENST00000370351.4_Nonsense_Mutation_p.W57*|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	57					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						ACTTCGGCTGGAACAAGAAGG	0.632000													9	32					0	0	0.006214	0	0
SCN1A	6323	broad.mit.edu	37	2	166900510	166900510	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:166900510C>T	ENST00000423058.2	-	11	1729	c.1712G>A	c.(1711-1713)aGa>aAa	p.R571K	AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.R571K|SCN1A_ENST00000375405.3_Missense_Mutation_p.R571K|SCN1A_ENST00000409050.1_Missense_Mutation_p.R571K|AC010127.3_ENST00000599041.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	571						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R571I(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGGCTTGTTCTGCTATTTCG	0.438000													25	50					0	0	0.004656	0	0
PHB	5245	broad.mit.edu	37	17	47486813	47486813	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:47486813T>C	ENST00000300408.3	-	4	345	c.273A>G	c.(271-273)acA>acG	p.T91T	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Silent_p.T91T|PHB_ENST00000508009.1_5'UTR	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	91					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GGATGCGCAGTGTGATGTTGA	0.453000													26	55					0	0	0.006320	0	0
CHPF	79586	broad.mit.edu	37	2	220406655	220406655	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:220406655C>T	ENST00000243776.6	-	2	819	c.571G>A	c.(571-573)Gac>Aac	p.D191N	CHPF_ENST00000535926.1_Missense_Mutation_p.D29N|CHPF_ENST00000373891.2_Missense_Mutation_p.D191N	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	191						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGTCAAAGTCGTCGCCGTGC	0.687000											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.013537	0	0
POFUT2	23275	broad.mit.edu	37	21	46685469	46685469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:46685469C>T	ENST00000349485.5	-	9	1244	c.1218G>A	c.(1216-1218)acG>acA	p.T406T	POFUT2_ENST00000331343.7_3'UTR|POFUT2_ENST00000471540.1_5'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	406					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TGTTGTACGTCGTCTTGGGGT	0.527000													14	55					0	0	0.002450	0	0
CYP3A4	1576	broad.mit.edu	37	7	99358539	99358539	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:99358539C>T	ENST00000354593.2	-	7	972	c.869G>A	c.(868-870)aGa>aAa	p.R290K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.R440K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	440					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	AATGCAGTTTCTGGGTCCACT	0.393000													44	68					0	0	0.014410	0	0
RAD51C	5889	broad.mit.edu	37	17	56774148	56774148	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:56774148G>A	ENST00000337432.4	+	3	570	c.499G>A	c.(499-501)Gat>Aat	p.D167N	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.D167N	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	167					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTATGGTTGATAGAGTGGT	0.413000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				29	42					0	0	0.008361	0	0
MID1	4281	broad.mit.edu	37	X	10535150	10535150	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:10535150C>T	ENST00000317552.4	-	2	838	c.438G>A	c.(436-438)ctG>ctA	p.L146L	MID1_ENST00000380780.1_Silent_p.L146L|MID1_ENST00000380782.2_Silent_p.L146L|MID1_ENST00000453318.2_Silent_p.L146L|MID1_ENST00000380787.1_Silent_p.L146L|MID1_ENST00000380779.1_Silent_p.L146L|MID1_ENST00000380785.1_Silent_p.L146L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	146					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GAGTGGCTTTCAGGCACTCGT	0.552000													38	24					0	0	0.004289	0	0
ZMYM2	7750	broad.mit.edu	37	13	20633593	20633593	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:20633593C>T	ENST00000382869.3	+	16	2881	c.2630C>T	c.(2629-2631)aCt>aTt	p.T877I	ZMYM2_ENST00000382874.2_Missense_Mutation_p.T877I|ZMYM2_ENST00000382883.3_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.T877I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	877					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTAGATGATACTTGGAGGACA	0.338000													12	28					0	0	0.013537	0	0
ATHL1	80162	broad.mit.edu	37	11	294604	294604	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:294604C>T	ENST00000409548.2	+	14	2184	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L	ATHL1_ENST00000409655.1_Missense_Mutation_p.P442L|ATHL1_ENST00000409479.1_Missense_Mutation_p.P717L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	690					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAAATGTCACCCCCGAAGCTG	0.642000													27	124					0	0	0.003954	0	0
H1FNT	341567	broad.mit.edu	37	12	48723371	48723371	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:48723371G>A	ENST00000335017.1	+	1	609	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	99					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						GCCACGAAGCGCCCAGGGGGC	0.667000													17	19					0	0	0.002780	0	0
CENPT	80152	broad.mit.edu	37	16	67865747	67865747	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:67865747G>C	ENST00000562787.1	-	8	981	c.433C>G	c.(433-435)Cca>Gca	p.P145A	CENPT_ENST00000445712.2_Missense_Mutation_p.P42A|CENPT_ENST00000562947.1_5'UTR|CENPT_ENST00000219172.3_Missense_Mutation_p.P145A|CENPT_ENST00000564817.1_Missense_Mutation_p.P145A|CENPT_ENST00000440851.2_Missense_Mutation_p.P145A	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	145					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		AGCAGACCTGGAGCCAGGGTT	0.582000													12	31					0	0	0.010729	0	0
DNTT	1791	broad.mit.edu	37	10	98079103	98079103	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:98079103T>C	ENST00000419175.1	+	3	633	c.463T>C	c.(463-465)Tgt>Cgt	p.C155R	DNTT_ENST00000371174.2_Missense_Mutation_p.C155R	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	155	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCAGTATGCGTGTCAGAGAAG	0.458000													31	120					0	0	0.003271	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48848387	48848387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:48848387C>T	ENST00000394754.1	+	5	2431	c.2317C>T	c.(2317-2319)Cag>Tag	p.Q773*	GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Nonsense_Mutation_p.Q35*|STON1-GTF2A1L_ENST00000309827.2_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000402114.2_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000394751.3_Nonsense_Mutation_p.Q773*|STON1-GTF2A1L_ENST00000405008.1_Nonsense_Mutation_p.Q773*|GTF2A1L_ENST00000403751.3_Nonsense_Mutation_p.Q69*	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		773					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTACTCTTCAGTTGCCGCA	0.408000													15	27					0	0	0.003163	0	0
TYW1B	441250	broad.mit.edu	37	7	72277753	72277753	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:72277753C>T	ENST00000438904.2	-	0	727				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCCTTTCTTGCAGTGGCCGCC	0.517000													8	20					0	0	0.003080	0	0
CACNA1C	775	broad.mit.edu	37	12	2795357	2795357	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:2795357A>G	ENST00000399655.1	+	45	5971	c.5706A>G	c.(5704-5706)gaA>gaG	p.E1902E	CACNA1C_ENST00000399629.1_Silent_p.E1919E|CACNA1C_ENST00000399606.1_Silent_p.E1922E|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000406454.3_Silent_p.E1973E|CACNA1C_ENST00000399603.1_Silent_p.E1902E|CACNA1C_ENST00000399638.1_Silent_p.E1930E|CACNA1C_ENST00000335762.5_Silent_p.E1927E|CACNA1C_ENST00000399634.1_Silent_p.E1973E|CACNA1C_ENST00000399621.1_Silent_p.E1921E|CACNA1C_ENST00000399597.1_Silent_p.E1902E|CACNA1C_ENST00000399617.1_Silent_p.E1937E|CACNA1C_ENST00000347598.4_Silent_p.E1950E|CACNA1C_ENST00000399601.1_Silent_p.E1902E|CACNA1C_ENST00000402845.3_Silent_p.E1921E|CACNA1C_ENST00000399644.1_Silent_p.E1902E|CACNA1C_ENST00000399649.1_Silent_p.E1908E|CACNA1C_ENST00000399641.1_Silent_p.E1902E|CACNA1C_ENST00000399595.1_Silent_p.E1910E|CACNA1C_ENST00000344100.3_Silent_p.E1943E|CACNA1C_ENST00000399637.1_Silent_p.E1921E|CACNA1C_ENST00000327702.7_Silent_p.E1937E|CACNA1C_ENST00000399591.1_Silent_p.E1910E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1985					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TCCACCTGGAATGTCTGAAGC	0.562000													25	81					0	0	0.004656	0	0
RBM5	10181	broad.mit.edu	37	3	50145531	50145531	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:50145531A>G	ENST00000347869.3	+	13	1245	c.1070A>G	c.(1069-1071)gAc>gGc	p.D357G	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	357	Required for interaction with U2AF2.				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCAGTGTTGACTACAGTTAT	0.403000													19	28					0	0	0.012319	0	0
NOX5	79400	broad.mit.edu	37	15	69327745	69327745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:69327745C>T	ENST00000260364.5	+	7	1154	c.853C>T	c.(853-855)Caa>Taa	p.Q285*	NOX5_ENST00000530406.2_Nonsense_Mutation_p.Q275*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.Q268*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.Q303*|NOX5_ENST00000448182.3_Nonsense_Mutation_p.Q257*			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	303					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GTGGCTGGCTCAAGTCCTACC	0.612000													12	34					0	0	0.010729	0	0
P2RX6	9127	broad.mit.edu	37	22	21380552	21380552	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:21380552C>T	ENST00000413302.2	+	11	1210	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F	P2RX6_ENST00000401443.1_Silent_p.F328F|P2RX6_ENST00000443995.3_Silent_p.F301F|P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000336296.2_Silent_p.F344F			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	354					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										TCACCTTTTTCTGTGACCTGC	0.582000													6	7					0	0	0.001984	0	0
DMD	1756	broad.mit.edu	37	X	31947824	31947824	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:31947824G>C	ENST00000357033.4	-	47	7007	c.6801C>G	c.(6799-6801)ctC>ctG	p.L2267L	DMD_ENST00000378677.2_Silent_p.L2263L|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000541735.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2267					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAATTGTTTGAGAATTCCCT	0.423000													21	31					0	0	0.012319	0	0
USP47	55031	broad.mit.edu	37	11	11971470	11971470	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:11971470A>G	ENST00000339865.5	+	22	3942	c.3179A>G	c.(3178-3180)aAa>aGa	p.K1060R	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000399455.2_Missense_Mutation_p.K1148R|USP47_ENST00000527733.1_Missense_Mutation_p.K1128R	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1148					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		GTGTTTGCTAAAGGAATGACT	0.343000													11	29					0	0	0.010729	0	0
CSMD3	114788	broad.mit.edu	37	8	113308174	113308174	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:113308174T>C	ENST00000297405.5	-	54	8746	c.8502A>G	c.(8500-8502)ggA>ggG	p.G2834G	CSMD3_ENST00000343508.3_Silent_p.G2794G|CSMD3_ENST00000352409.3_Silent_p.G2764G|CSMD3_ENST00000455883.2_Silent_p.G2665G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2834	Sushi 18.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTCTCTATATCCATAATTTT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	45					0	0	0.010729	0	0
PPFIA2	8499	broad.mit.edu	37	12	82147869	82147869	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:82147869A>G	ENST00000550584.2	-	2	427	c.132T>C	c.(130-132)cgT>cgC	p.R44R	PPFIA2_ENST00000548586.1_Silent_p.R44R|PPFIA2_ENST00000333447.7_Silent_p.R44R|PPFIA2_ENST00000552948.1_Silent_p.R44R|PPFIA2_ENST00000549325.1_Silent_p.R44R|PPFIA2_ENST00000549396.1_Silent_p.R44R	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	303										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGTCTAGAAGACGATCCCTTT	0.527000													4	25					0	0	0.009096	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs148060711	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:14414844T>C	ENST00000507941.1	+	0	95																											ACTGGGCCTGTGCCAATGGCC	0.433000													5	37					0	0	0.001168	0	0
LRRN4	164312	broad.mit.edu	37	20	6025248	6025248	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:6025248G>C	ENST00000378858.4	-	4	1163	c.939C>G	c.(937-939)ctC>ctG	p.L313L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	313						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AACTGCAAGTGAGGGGGTTGC	0.483000													5	14					0	0	0.000602	0	0
SULT1A2	6799	broad.mit.edu	37	16	28603636	28603636	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:28603636G>A	ENST00000533150.1	-	3	1740	c.624C>T	c.(622-624)acC>acT	p.T208T	SULT1A2_ENST00000395630.1_Silent_p.T241T|SULT1A2_ENST00000335715.4_Silent_p.T241T			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	241					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GGCGGACGGTGGTGTAGTTGG	0.592000													26	121					0	0	0.005443	0	0
IL17REL	400935	broad.mit.edu	37	22	50436125	50436125	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:50436125C>T	ENST00000389983.2	-	12	1130	c.866G>A	c.(865-867)cGt>cAt	p.R289H	IL17REL_ENST00000341280.5_Missense_Mutation_p.R289H	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	289										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGGAAGCGACGCTGTTCGAA	0.572000													13	49					0	0	0.003163	0	0
CNGB1	1258	broad.mit.edu	37	16	57918175	57918175	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:57918175C>T	ENST00000564448.1	-	33	3691	c.3631G>A	c.(3631-3633)Gag>Aag	p.E1211K	CNGB1_ENST00000251102.8_Missense_Mutation_p.E1217K			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1217					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						TCTTCGGGCTCGGCCGGCCCC	0.726000													34	28					0	0	0.003271	0	0
LAMB1	3912	broad.mit.edu	37	7	107594021	107594021	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:107594021G>A	ENST00000393561.1	-	20	3289	c.3105C>T	c.(3103-3105)ttC>ttT	p.F1035F	LAMB1_ENST00000222399.6_Silent_p.F1011F			P07942	LAMB1_HUMAN	laminin, beta 1	1011	Laminin EGF-like 11.				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)	CAAACCGGCAGAACTGACAGT	0.493000													47	36					0	0	0.014410	0	0
SLC8A3	6547	broad.mit.edu	37	14	70513028	70513028	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:70513028C>G	ENST00000381269.2	-	8	3173	c.2420G>C	c.(2419-2421)aGc>aCc	p.S807T	SLC8A3_ENST00000216568.7_Missense_Mutation_p.S178T|SLC8A3_ENST00000534137.1_Missense_Mutation_p.S804T|SLC8A3_ENST00000356921.2_Missense_Mutation_p.S801T|SLC8A3_ENST00000394330.2_Missense_Mutation_p.S164T|SLC8A3_ENST00000357887.3_Missense_Mutation_p.S805T|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000528359.1_Missense_Mutation_p.S805T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	807					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AGCAGCTTTGCTGGCAAACGT	0.557000											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	20					0	0	0.003080	0	0
SDR16C5	195814	broad.mit.edu	37	8	57228775	57228775	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:57228775G>A	ENST00000396721.2	-	2	262	c.132C>T	c.(130-132)ctC>ctT	p.L44L	SDR16C5_ENST00000522671.1_Silent_p.L44L|SDR16C5_ENST00000303749.3_Silent_p.L44L			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	44					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						CACCTGTGATGAGGACTATTT	0.468000													7	41					0	0	0.001984	0	0
GTF2F1	2962	broad.mit.edu	37	19	6381161	6381161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:6381161C>T	ENST00000394456.5	-	10	1528	c.1064G>A	c.(1063-1065)aGc>aAc	p.S355N	GTF2F1_ENST00000429701.2_Missense_Mutation_p.S270N	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	355					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GGAGGCCTCGCTGTCAATGTC	0.677000													7	7					0	0	0.003080	0	0
UBE3B	89910	broad.mit.edu	37	12	109935646	109935646	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:109935646C>T	ENST00000342494.3	+	10	1332	c.737C>T	c.(736-738)tCa>tTa	p.S246L	UBE3B_ENST00000434735.2_Missense_Mutation_p.S246L|UBE3B_ENST00000280774.5_Missense_Mutation_p.S246L	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	246					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCACAGTTCTCAGACAATCTG	0.527000													32	90					0	0	0.010818	0	0
CARD10	29775	broad.mit.edu	37	22	37887821	37887821	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:37887821G>C	ENST00000403299.1	-	20	3021	c.2805C>G	c.(2803-2805)aaC>aaG	p.N935K	CARD10_ENST00000406271.3_Missense_Mutation_p.N649K|CARD10_ENST00000251973.5_Missense_Mutation_p.N935K			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	935					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GGTAGATCTCGTTCTGCACCA	0.617000													7	55					0	0	0.006214	0	0
NPY1R	4886	broad.mit.edu	37	4	164246583	164246583	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:164246583G>C	ENST00000296533.2	-	3	1558	c.1027C>G	c.(1027-1029)Cgg>Ggg	p.R343G	NPY1R_ENST00000509586.1_Missense_Mutation_p.R100G	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	343					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.R343W(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCATCATCCCGAGACCGGAAA	0.393000													20	54					0	0	0.007413	0	0
TONSL	4796	broad.mit.edu	37	8	145659460	145659460	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:145659460G>A	ENST00000409379.3	-	21	3317	c.3288C>T	c.(3286-3288)acC>acT	p.T1096T		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1096					cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCTGGGCATGGTGCCCAGGG	0.687000													30	21					0	0	0.013726	0	0
DNAH10	196385	broad.mit.edu	37	12	124326021	124326021	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:124326021G>A	ENST00000409039.3	+	29	4960	c.4935G>A	c.(4933-4935)ttG>ttA	p.L1645L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1645	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		CGGCAGTTTTGAATGAGATGA	0.468000													33	52					0	0	0.013726	0	0
GRN	2896	broad.mit.edu	37	17	42427117	42427117	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:42427117C>G	ENST00000053867.3	+	4	409	c.347C>G	c.(346-348)tCa>tGa	p.S116*	GRN_ENST00000589265.1_Nonsense_Mutation_p.S116*	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	116					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TTCCAAAGATCAGGTGCAGCT	0.652000													3	20					0	0	0.004672	0	0
POTEA	340441	broad.mit.edu	37	8	43152200	43152200	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:43152200G>A	ENST00000522175.2	+	0	339							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGCAATTCAGAAGTAGTAAG	0.408000													14	74					0	0	0.001855	0	0
OTOGL	283310	broad.mit.edu	37	12	80615964	80615964	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:80615964G>A	ENST00000458043.2	+	6	407	c.401G>A	c.(400-402)gGa>gAa	p.G134E	OTOGL_ENST00000547103.1_Missense_Mutation_p.G134E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACTTCCCAGGAAACTGTTCT	0.398000													21	32					0	0	0.010504	0	0
UTRN	7402	broad.mit.edu	37	6	144898326	144898326	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:144898326G>A	ENST00000367545.3	+	50	7381	c.7381G>A	c.(7381-7383)Gaa>Aaa	p.E2461K		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2461					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GTGGATCCAAGAAGCAGAGAC	0.512000													22	20					0	0	0.014323	0	0
EIF3B	8662	broad.mit.edu	37	7	2400441	2400441	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:2400441G>A	ENST00000360876.4	+	2	652	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	EIF3B_ENST00000397011.2_Missense_Mutation_p.R199Q	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	199	RRM.|Sufficient for interaction with EIF3E.|Sufficient for interaction with EIF3J.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGACCCGACCGACTTGAGAAA	0.443000													22	45					0	0	0.012319	0	0
GARNL3	84253	broad.mit.edu	37	9	130027210	130027210	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:130027210G>A	ENST00000373387.4	+	1	406	c.54G>A	c.(52-54)ctG>ctA	p.L18L	GARNL3_ENST00000435213.2_Intron|GARNL3_ENST00000314904.5_Silent_p.L18L	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	18					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GTATAATACTGATGAAGCATT	0.453000													23	29					0	0	0.002780	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32632653	32632653	+	Missense_Mutation	SNP	C	C	T	rs41556424		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:32632653C>T	ENST00000399084.1	-	3	479	c.301G>A	c.(301-303)Gag>Aag	p.E101K	HLA-DQB1_ENST00000434651.2_Missense_Mutation_p.E101K|HLA-DQB1_ENST00000399079.3_Missense_Mutation_p.E101K|HLA-DQB1_ENST00000399082.3_Intron|HLA-DQB1_ENST00000374943.4_Missense_Mutation_p.E101K			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1	101	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGGGTCCCCTCCAGGACTTCC	0.672000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				3	3					0	0	0.008291	0	0
USP24	23358	broad.mit.edu	37	1	55566515	55566515	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:55566515C>T	ENST00000294383.6	-	44	5267	c.5268G>A	c.(5266-5268)tgG>tgA	p.W1756*	USP24_ENST00000407756.1_Nonsense_Mutation_p.W1596*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1756					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GAAATACCTTCCAAAAATTCT	0.338000													7	19					0	0	0.001984	0	0
OR6C1	390321	broad.mit.edu	37	12	55714720	55714720	+	Silent	SNP	C	C	T	rs149008799		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:55714720C>T	ENST00000379668.2	+	1	375	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						GTTTTACCTTCTGGCTGCCAT	0.403000													11	28					0	0	0.008291	0	0
SPEN	23013	broad.mit.edu	37	1	16265833	16265833	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:16265833G>A	ENST00000375759.3	+	15	11110	c.10906G>A	c.(10906-10908)Gag>Aag	p.E3636K		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	3636	SPOC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGTTCTCTGAGAGTCACCT	0.582000													75	156					0	0	0.014410	0	0
DUSP8	1850	broad.mit.edu	37	11	1586951	1586951	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:1586951C>T	ENST00000397374.3	-	2	233	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	DUSP8_ENST00000331588.4_Missense_Mutation_p.V36M	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	36	Rhodanese.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TTGTACTCCACGAAGGAGCGG	0.657000													15	102					0	0	0.004007	0	0
HMBOX1	79618	broad.mit.edu	37	8	28827975	28827975	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:28827975T>C	ENST00000397358.3	+	4	1143	c.439T>C	c.(439-441)Tac>Cac	p.Y147H	HMBOX1_ENST00000355231.5_Missense_Mutation_p.Y147H|HMBOX1_ENST00000519047.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000523613.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000287701.10_Missense_Mutation_p.Y147H|HMBOX1_ENST00000403668.2_Missense_Mutation_p.Y147H|HMBOX1_ENST00000524238.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000444075.1_Missense_Mutation_p.Y147H|HMBOX1_ENST00000558662.1_Missense_Mutation_p.Y147H	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	147					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TCAGAGGTCATACAGTTTTGA	0.403000													5	46					0	0	0.001168	0	0
COBLL1	22837	broad.mit.edu	37	2	165586561	165586561	+	Missense_Mutation	SNP	T	T	C	rs146685683		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:165586561T>C	ENST00000375458.2	-	3	516	c.295A>G	c.(295-297)Aca>Gca	p.T99A	COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.T137A|COBLL1_ENST00000194871.6_Missense_Mutation_p.T152A|COBLL1_ENST00000409184.3_Missense_Mutation_p.T137A|COBLL1_ENST00000342193.4_Missense_Mutation_p.T99A	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	137										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATCGATTGTGTAACTTGAT	0.343000													20	40					0	0	0.010504	0	0
MYO18A	399687	broad.mit.edu	37	17	27493277	27493277	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:27493277T>C	ENST00000527372.1	-	2	862	c.682A>G	c.(682-684)Act>Gct	p.T228A	MYO18A_ENST00000531253.1_Missense_Mutation_p.T228A|MYO18A_ENST00000533112.1_Missense_Mutation_p.T228A|MYO18A_ENST00000354329.4_Missense_Mutation_p.T228A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	228	PDZ.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGTCTCCAGTGGGCCGTCGT	0.667000													32	56					0	0	0.013726	0	0
RAP2B	5912	broad.mit.edu	37	3	152880938	152880938	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:152880938G>A	ENST00000323534.2	+	1	910	c.456G>A	c.(454-456)tcG>tcA	p.S152S		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	152					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			ACAAAGCCTCGGTAGACGAGC	0.642000													5	9					0	0	0.000602	0	0
SYT7	9066	broad.mit.edu	37	11	61318925	61318925	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:61318925T>C	ENST00000263846.4	-	3	473	c.146A>G	c.(145-147)tAc>tGc	p.Y49C	SYT7_ENST00000539008.1_Missense_Mutation_p.Y49C|SYT7_ENST00000542836.1_Missense_Mutation_p.Y49C|SYT7_ENST00000542670.1_Missense_Mutation_p.Y49C|SYT7_ENST00000540677.1_Missense_Mutation_p.Y49C|SYT7_ENST00000535826.1_Missense_Mutation_p.Y49C	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	49						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGAATTCTTGTAGCGTTTGCC	0.587000													12	63					0	0	0.001855	0	0
EPB41L2	2037	broad.mit.edu	37	6	131216209	131216209	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:131216209G>C	ENST00000337057.3	-	9	1468	c.1287C>G	c.(1285-1287)ctC>ctG	p.L429L	EPB41L2_ENST00000445890.2_Silent_p.L429L|EPB41L2_ENST00000368128.2_Silent_p.L429L|EPB41L2_ENST00000525271.1_Silent_p.L429L|EPB41L2_ENST00000525193.1_Silent_p.L429L|EPB41L2_ENST00000530481.1_Silent_p.L429L|EPB41L2_ENST00000529208.1_Silent_p.L429L|EPB41L2_ENST00000392427.3_Silent_p.L429L|EPB41L2_ENST00000527659.1_Silent_p.L429L|EPB41L2_ENST00000528282.1_Silent_p.L429L|EPB41L2_ENST00000527411.1_Silent_p.L429L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	429	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTTTGTAAATGAGAAGTCCAT	0.423000													49	34					0	0	0.014410	0	0
DHX30	22907	broad.mit.edu	37	3	47883135	47883135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:47883135G>A	ENST00000446256.2	+	9	1152	c.580G>A	c.(580-582)Gac>Aac	p.D194N	DHX30_ENST00000348968.4_Missense_Mutation_p.D205N|DHX30_ENST00000445061.1_Missense_Mutation_p.D233N|DHX30_ENST00000457607.1_Missense_Mutation_p.D261N	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	233	Poly-Glu.					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)		GACAGATGACGACAGTGCCAT	0.493000													30	54					0	0	0.006320	0	0
MAML1	9794	broad.mit.edu	37	5	179195951	179195951	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:179195951A>G	ENST00000292599.3	+	3	2095	c.1832A>G	c.(1831-1833)tAt>tGt	p.Y611C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	611					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTCCCCCTATCTCAGCAGC	0.572000													55	83					0	0	0.014410	0	0
C9orf3	84909	broad.mit.edu	37	9	97844946	97844946	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:97844946G>A	ENST00000375315.2	+	15	2409	c.2409G>A	c.(2407-2409)aaG>aaA	p.K803K	C9orf3_ENST00000297979.5_Silent_p.K704K|C9orf3_ENST00000433691.2_Silent_p.K144K|C9orf3_ENST00000425634.2_Silent_p.K165K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	803					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGCGGACCAAGGAGCAGATGG	0.547000													32	26					0	0	0.013726	0	0
SCG2	7857	broad.mit.edu	37	2	224463114	224463114	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:224463114C>T	ENST00000305409.2	-	2	1119	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	296					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.R296L(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ACTCTCTTTCCGAAGATCTTC	0.418000													18	136					0	0	0.006122	0	0
NPC1	4864	broad.mit.edu	37	18	21148963	21148963	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:21148963C>T	ENST00000269228.5	-	4	842		c.e4-1		NPC1_ENST00000540608.1_Splice_Site	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1						autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GGATGGACATCTAAAGGAAAA	0.338000													6	16					0	0	0.003080	0	0
MYOF	26509	broad.mit.edu	37	10	95113570	95113570	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:95113570G>A	ENST00000371501.4	-	32	3601	c.3479C>T	c.(3478-3480)tCa>tTa	p.S1160L	MYOF_ENST00000371502.4_Missense_Mutation_p.S1160L|MYOF_ENST00000359263.4_Missense_Mutation_p.S1160L|MYOF_ENST00000358334.5_Missense_Mutation_p.S1147L			Q9NZM1	MYOF_HUMAN	myoferlin	1160	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCTTTACCTGAAAAGCTATC	0.353000													24	77					0	0	0.005443	0	0
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:160033923C>G	ENST00000327245.5	-	19	3855	c.3009G>C	c.(3007-3009)ttG>ttC	p.L1003F		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512000													12	88					0	0	0.002450	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003930	75003930	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:75003930G>A	ENST00000373359.2	-	1	1149	c.957C>T	c.(955-957)gtC>gtT	p.V319V		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	319	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGCCAACTGGACCAAATCAT	0.453000													18	35					0	0	0.012319	0	0
C8B	732	broad.mit.edu	37	1	57399040	57399040	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:57399040G>A	ENST00000543257.1	-	11	1930	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	C8B_ENST00000535057.1_Missense_Mutation_p.P445L|C8B_ENST00000371237.4_Missense_Mutation_p.P507L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	507	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TCCTTGGCAGGGAGCACAGTG	0.552000													26	46					0	0	0.006320	0	0
SNX19	399979	broad.mit.edu	37	11	130773221	130773221	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:130773221T>C	ENST00000265909.4	-	8	3071	c.2502A>G	c.(2500-2502)gaA>gaG	p.E834E	SNX19_ENST00000534726.1_Silent_p.E74E|SNX19_ENST00000545537.1_Silent_p.E74E|SNX19_ENST00000528555.1_Silent_p.E214E|SNX19_ENST00000539184.1_Silent_p.E277E|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000530356.1_Silent_p.E214E	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	834					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATTTCCACTGTTCTGTTAGTA	0.453000													18	24					0	0	0.004990	0	0
ABCC5	10057	broad.mit.edu	37	3	183665178	183665178	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:183665178C>T	ENST00000334444.6	-	23	3588	c.3348G>A	c.(3346-3348)atG>atA	p.M1116I	ABCC5_ENST00000265586.6_Missense_Mutation_p.M1073I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1116	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAGAACGATCATCAGCCCCG	0.552000													16	23					0	0	0.004990	0	0
CSRNP3	80034	broad.mit.edu	37	2	166535631	166535631	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:166535631G>C	ENST00000314499.7	+	7	1502	c.1126G>C	c.(1126-1128)Gaa>Caa	p.E376Q	CSRNP3_ENST00000342316.4_Missense_Mutation_p.E376Q|CSRNP3_ENST00000409420.1_Missense_Mutation_p.E408Q	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	376	Glu-rich.				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ggaggaggaagaagaagagga	0.537000													17	38					0	0	0.004007	0	0
MAN2B1	4125	broad.mit.edu	37	19	12758381	12758381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:12758381G>A	ENST00000456935.2	-	22	2736	c.2696C>T	c.(2695-2697)tCg>tTg	p.S899L	MAN2B1_ENST00000221363.4_Missense_Mutation_p.S898L|CTD-2192J16.22_ENST00000597692.1_Silent_p.L85L	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	899					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGTGCACCGAGGGCGGCAG	0.692000													27	23					0	0	0.007291	0	0
TMED4	222068	broad.mit.edu	37	7	44620691	44620691	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:44620691C>T	ENST00000481238.1	-	4	559	c.535G>A	c.(535-537)Gca>Aca	p.A179T	TMED4_ENST00000444131.2_Intron|TMED4_ENST00000457408.2_Splice_Site|TMED4_ENST00000289577.5_Intron			Q7Z7H5	TMED4_HUMAN	transmembrane emp24 protein transport domain containing 4	0					positive regulation of I-kappaB kinase/NF-kappaB cascade|transport	endoplasmic reticulum membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TATGCACTTGCCCTTTGGTAA	0.483000													17	43					0	0	0.007413	0	0
RAD52	5893	broad.mit.edu	37	12	1025884	1025884	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:1025884G>A	ENST00000358495.3	-	8	784	c.646C>T	c.(646-648)Cac>Tac	p.H216Y	RAD52_ENST00000430095.2_Missense_Mutation_p.H216Y|RAD52_ENST00000536177.1_Missense_Mutation_p.H216Y|RAD52_ENST00000539046.1_Missense_Mutation_p.H139Y	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	216					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			AGCTGTGGGTGTCCCAGGGCC	0.582000								Homologous recombination					13	42					0	0	0.001855	0	0
OGDH	4967	broad.mit.edu	37	7	44739760	44739760	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:44739760C>T	ENST00000222673.5	+	19	2493	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	OGDH_ENST00000447398.1_Silent_p.F828F|OGDH_ENST00000439616.2_Silent_p.F667F|OGDH_ENST00000444676.1_Silent_p.F832F|OGDH_ENST00000449767.1_Silent_p.F813F|OGDH_ENST00000543843.1_Silent_p.F768F	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	817					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AAGCCAACTTCGACATCAATC	0.542000													39	69					0	0	0.007835	0	0
CAD	790	broad.mit.edu	37	2	27449800	27449800	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:27449800A>G	ENST00000264705.4	+	15	2419	c.2257A>G	c.(2257-2259)Aca>Gca	p.T753A	CAD_ENST00000403525.1_Missense_Mutation_p.T690A	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	753	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GCGAGTCAGCACAAAGATTGG	0.532000													44	97					0	0	0.014410	0	0
TAP1	6890	broad.mit.edu	37	6	32815407	32815407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:32815407G>A	ENST00000354258.4	-	9	2127	c.1966C>T	c.(1966-1968)Caa>Taa	p.Q656*	TAP1_ENST00000425148.2_Nonsense_Mutation_p.Q395*|PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	656	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						ATATTTTCTTGAAGACTTCTT	0.468000													17	25					0	0	0.006122	0	0
AGT	183	broad.mit.edu	37	1	230839024	230839024	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:230839024C>T	ENST00000366667.4	-	5	1535	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	441					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGGTAGACTCTGTGGGCTCT	0.527000													32	71					0	0	0.013726	0	0
TENM3	55714	broad.mit.edu	37	4	183267957	183267957	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:183267957A>G	ENST00000511685.1	+	3	509	c.386A>G	c.(385-387)gAg>gGg	p.E129G	TENM3_ENST00000406950.2_Missense_Mutation_p.E129G					teneurin transmembrane protein 3																		ATGTCCCCAGAGCATGCCATG	0.557000													7	6					0	0	0.001984	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50685459	50685459	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:50685459G>A	ENST00000446044.1	+	13	1727	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q	MAPKAPK3_ENST00000357955.2_Silent_p.Q377Q	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	377					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGCCTCACAGGGCTGCAACA	0.572000													11	43					0	0	0.008291	0	0
BMPR2	659	broad.mit.edu	37	2	203420156	203420156	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:203420156G>A	ENST00000374580.4	+	12	2307	c.1768G>A	c.(1768-1770)Gaa>Aaa	p.E590K	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	590					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						AATTAACTATGAACGACAGCA	0.463000													24	40					0	0	0.014323	0	0
SUPT20H	55578	broad.mit.edu	37	13	37603934	37603934	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:37603934C>T	ENST00000360252.4	-	13	1211	c.964G>A	c.(964-966)Gat>Aat	p.D322N	SUPT20H_ENST00000356185.3_Missense_Mutation_p.D322N|SUPT20H_ENST00000542180.1_Intron|SUPT20H_ENST00000464744.1_Missense_Mutation_p.D322N|SUPT20H_ENST00000350612.6_Missense_Mutation_p.D321N|SUPT20H_ENST00000475892.1_Missense_Mutation_p.D321N	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TGTGAGTCATCAGATTTGATA	0.348000													8	46					0	0	0.004482	0	0
NIP7	51388	broad.mit.edu	37	16	69375197	69375197	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:69375197G>A	ENST00000254940.5	+	4	797	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254941.6_Intron	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	133	PUA.				ribosome assembly	nucleolus	protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				GGGCGTGGTGGTGTACTCCAT	0.468000													12	23					0	0	0.001855	0	0
CKAP2	26586	broad.mit.edu	37	13	53035696	53035696	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:53035696A>G	ENST00000378037.5	+	4	828	c.738A>G	c.(736-738)acA>acG	p.T246T	CKAP2_ENST00000258607.5_Silent_p.T245T|CKAP2_ENST00000490903.1_Silent_p.T197T|CKAP2_ENST00000378034.3_Silent_p.T245T	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	246					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		TGAGCACTACATCTCAGAACA	0.423000													9	30					0	0	0.010729	0	0
TIMM44	10469	broad.mit.edu	37	19	7992108	7992108	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:7992108C>T	ENST00000270538.3	-	13	1591	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	441					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCGAGATGTCCAGGAGCCGCC	0.672000													19	21					0	0	0.007413	0	0
GALM	130589	broad.mit.edu	37	2	38958959	38958959	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:38958959G>A	ENST00000272252.5	+	6	1111	c.859G>A	c.(859-861)Gat>Aat	p.D287N	GALM_ENST00000410063.1_Missense_Mutation_p.D139N	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	287					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CAACTTCCTGGATGGCACATT	0.527000													31	66					0	0	0.010818	0	0
MYOM3	127294	broad.mit.edu	37	1	24383902	24383902	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:24383902G>A	ENST00000330966.7	-	37	4437	c.4275C>T	c.(4273-4275)atC>atT	p.I1425I	MYOM3_ENST00000374434.3_Silent_p.I1422I|MYOM3_ENST00000338909.5_Silent_p.I315I|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1422										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAACACACTGATGGTGACCT	0.562000													13	41					0	0	0.013537	0	0
KIAA0754	643314	broad.mit.edu	37	1	39876750	39876750	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:39876750C>T	ENST00000530275.1	+	1	600	c.405C>T	c.(403-405)ttC>ttT	p.F135F	MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	135										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGAGGCTTCAGTGAGAAGC	0.512000											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	12					0	0	0.001984	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62631954	62631954	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:62631954G>A	ENST00000337910.5	-	10	2247	c.1910C>T	c.(1909-1911)tCa>tTa	p.S637L	RHOBTB1_ENST00000490827.1_5'UTR|RHOBTB1_ENST00000357917.4_Missense_Mutation_p.S637L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TGCAGATTTTGATTTGATTTC	0.493000													23	72					0	0	0.014323	0	0
NCOA1	8648	broad.mit.edu	37	2	24905860	24905860	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:24905860G>A	ENST00000405141.1	+	9	1106	c.395G>A	c.(394-396)aGa>aAa	p.R132K	NCOA1_ENST00000288599.5_Missense_Mutation_p.R132K|NCOA1_ENST00000538539.1_Missense_Mutation_p.R132K|NCOA1_ENST00000395856.3_Missense_Mutation_p.R132K|NCOA1_ENST00000406961.1_Missense_Mutation_p.R132K|NCOA1_ENST00000348332.3_Missense_Mutation_p.R132K|NCOA1_ENST00000407230.1_5'UTR			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	132	PAS.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAAGGGAGAATTGTATTT	0.368000			T	PAX3	alveolar rhadomyosarcoma								32	50					0	0	0.013726	0	0
DUSP16	80824	broad.mit.edu	37	12	12674023	12674023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:12674023C>T	ENST00000228862.2	-	2	641	c.10G>A	c.(10-12)Gag>Aag	p.E4K	DUSP16_ENST00000298573.4_Missense_Mutation_p.E4K	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	4					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		CCAATCATCTCATGGGCCATG	0.453000													11	17					0	0	0.010729	0	0
RPL32P3	132241	broad.mit.edu	37	3	129112028	129112028	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:129112028C>T	ENST00000514355.1	-	0	785																				lung(1)	1						TTGCCTGCTTCAGCCATGTGG	0.587000													11	9					0	0	0.008291	0	0
KMT2C	58508	broad.mit.edu	37	7	151945668	151945668	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:151945668T>C	ENST00000355193.2	-	14	2069	c.1851A>G	c.(1849-1851)aaA>aaG	p.K617K	KMT2C_ENST00000262189.6_Silent_p.K617K					lysine (K)-specific methyltransferase 2C																		TAGAAATCTGTTTTTCCAATT	0.308000													4	29					0	0	0.009096	0	0
SZT2	23334	broad.mit.edu	37	1	43913626	43913626	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:43913626G>A	ENST00000562955.1	+	67	9376	c.9376G>A	c.(9376-9378)Gag>Aag	p.E3126K	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.E2284K	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3183						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						AGGAGAGGCTGAGCGGCACGT	0.572000													38	49					0	0	0.004878	0	0
SAMD3	154075	broad.mit.edu	37	6	130465682	130465682	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:130465682G>T	ENST00000368134.2	-	14	2154	c.1546C>A	c.(1546-1548)Cag>Aag	p.Q516K	SAMD3_ENST00000457563.2_Missense_Mutation_p.Q540K|SAMD3_ENST00000437477.2_Missense_Mutation_p.Q516K|SAMD3_ENST00000439090.2_Missense_Mutation_p.Q516K	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	516										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		AGTGGGTGCTGAAATCCTACT	0.368000													9	26					3.07112e-06	3.19955e-06	0.010729	1	0
NDNL2	56160	broad.mit.edu	37	15	29561649	29561649	+	Silent	SNP	C	C	T	rs138846663		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:29561649C>T	ENST00000332303.4	-	1	384	c.261G>A	c.(259-261)ctG>ctA	p.L87L	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	87	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGGACACTTTCAGCTCCAGCT	0.667000											OREG0032044	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	11	53					0	0	0.013537	0	0
ZBTB22	9278	broad.mit.edu	37	6	33284074	33284074	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:33284074T>C	ENST00000431845.2	-	2	771	c.620A>G	c.(619-621)aAc>aGc	p.N207S	ZBTB22_ENST00000418724.1_Missense_Mutation_p.N207S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						GCTGAAGTAGTTGCTGCTGCT	0.627000													19	17					0	0	0.006122	0	0
TTN	7273	broad.mit.edu	37	2	179422796	179422796	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:179422796A>G	ENST00000589042.1	-	328	87509	c.87285T>C	c.(87283-87285)atT>atC	p.I29095I	TTN_ENST00000591111.1_Silent_p.I27454I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I20155I|TTN_ENST00000460472.2_Silent_p.I20030I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.I20222I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I26527I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27454	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTCAGCAGTAATTTCGGTAT	0.428000													37	80					0	0	0.006230	0	0
FAM114A1	92689	broad.mit.edu	37	4	38916603	38916603	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:38916603G>C	ENST00000358869.2	+	8	1030	c.854G>C	c.(853-855)aGa>aCa	p.R285T	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R78T	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	285						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACGATGGAGAGAACCGCGCAC	0.468000													13	21					0	0	0.002450	0	0
BMPR1B	658	broad.mit.edu	37	4	96045003	96045003	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:96045003C>T	ENST00000515059.1	+	7	675	c.392C>T	c.(391-393)tCt>tTt	p.S131F	BMPR1B_ENST00000440890.2_Missense_Mutation_p.S161F|BMPR1B_ENST00000394931.1_Missense_Mutation_p.S131F|BMPR1B_ENST00000264568.4_Missense_Mutation_p.S131F	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	131					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTACTTATATCTGTGACTGTC	0.294000													30	71					0	0	0.004289	0	0
CASKIN2	57513	broad.mit.edu	37	17	73498946	73498946	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:73498946C>G	ENST00000321617.3	-	18	2795	c.2209G>C	c.(2209-2211)Gag>Cag	p.E737Q	CASKIN2_ENST00000433559.2_Missense_Mutation_p.E655Q	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	737	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGGGCCGCTCTGTGCCCTCT	0.657000													4	27					0	0	0.000602	0	0
OTOF	9381	broad.mit.edu	37	2	26703759	26703759	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:26703759C>G	ENST00000272371.2	-	15	1824	c.1698G>C	c.(1696-1698)cgG>cgC	p.R566R	OTOF_ENST00000403946.3_Silent_p.R566R	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	566					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGCCGGGCCCGGAAGGACA	0.642000													25	41					0	0	0.003954	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135922246	135922246	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:135922246C>T	ENST00000264158.8	+	23	2732	c.2689C>T	c.(2689-2691)Ctg>Ttg	p.L897L	RAB3GAP1_ENST00000539493.1_Silent_p.L853L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Silent_p.L897L|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	897						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTCACAAGCTGTTTGTGAA	0.493000													11	27					0	0	0.010729	0	0
KRT84	3890	broad.mit.edu	37	12	52777374	52777374	+	Splice_Site	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:52777374T>C	ENST00000257951.3	-	2	821	c.755A>G	c.(754-756)aAg>aGg	p.K252R	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	252	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCACTCACTTCTTCTTGAA	0.582000													6	30					0	0	0.001168	0	0
PRB2	653247	broad.mit.edu	37	12	11548455	11548455	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:11548455C>G	ENST00000389362.4	-	1	44	c.9G>C	c.(7-9)ttG>ttC	p.L3F	PRB2_ENST00000545829.1_Intron|PRB1_ENST00000546254.1_Missense_Mutation_p.L3F	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			ACAGCAGAATCAACAGCATCT	0.512000													13	65					0	0	0.008871	0	0
C6orf222	389384	broad.mit.edu	37	6	36287385	36287385	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:36287385G>A	ENST00000437635.2	-	11	1848	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	557										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGGCGCCTGATCTGGAAGT	0.582000													19	34					0	0	0.012319	0	0
SEMA3A	10371	broad.mit.edu	37	7	83823856	83823856	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:83823856A>C	ENST00000265362.4	-	1	361	c.47T>G	c.(46-48)cTt>cGt	p.L16R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L16R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTGCTGTAAGTAATACTCC	0.408000													25	77					0	0	0.007291	0	0
NUP133	55746	broad.mit.edu	37	1	229586277	229586277	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:229586277C>T	ENST00000261396.3	-	23	3266	c.3175G>A	c.(3175-3177)Gat>Aat	p.D1059N	NUP133_ENST00000485119.1_5'UTR|NUP133_ENST00000537506.1_Missense_Mutation_p.D1043N	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1059					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTACCTCATCAATATATTCC	0.308000													19	53					0	0	0.008871	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249906	3249906	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:3249906T>C	ENST00000389832.5	-	2	430	c.124A>G	c.(124-126)Aat>Gat	p.N42D	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.N41D			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGCCCCATTCCCCAGCAGC	0.642000													28	46					0	0	0.008361	0	0
AP3B2	8120	broad.mit.edu	37	15	83357579	83357579	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:83357579T>C	ENST00000261722.3	-	4	476	c.269A>G	c.(268-270)aAg>aGg	p.K90R	RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Intron|AP3B2_ENST00000535359.1_Missense_Mutation_p.K90R|AP3B2_ENST00000542200.1_Missense_Mutation_p.K90R|AP3B2_ENST00000561455.1_5'UTR	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	90					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			GACAAGCTTCTTCACCTTGGG	0.597000													3	6					0	0	0.009096	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117960326	117960326	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:117960326G>A	ENST00000310164.2	+	4	1626	c.1119G>A	c.(1117-1119)ttG>ttA	p.L373L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TTGAGAATTTGATCATCACTC	0.502000													16	26					0	0	0.004990	0	0
VSX1	30813	broad.mit.edu	37	20	25059543	25059543	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:25059543G>T	ENST00000376709.4	-	3	812	c.549C>A	c.(547-549)ttC>ttA	p.F183L	VSX1_ENST00000444511.2_Missense_Mutation_p.F183L|VSX1_ENST00000451258.1_Missense_Mutation_p.F183L|VSX1_ENST00000429762.3_Missense_Mutation_p.F183L|VSX1_ENST00000424574.1_Missense_Mutation_p.F183L|VSX1_ENST00000376707.3_Missense_Mutation_p.F183L	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	183					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GGGCCTCGCTGAATGCCTTCT	0.567000													33	50					1.62565e-12	1.73635e-12	0.012213	1	0
JAKMIP3	282973	broad.mit.edu	37	10	133949530	133949530	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:133949530C>T	ENST00000298622.4	+	5	1204	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCATGCTTTACGCCGAATGGA	0.527000													15	16					0	0	0.003163	0	0
YES1	7525	broad.mit.edu	37	18	724590	724590	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:724590T>C	ENST00000584307.1	-	12	1636	c.1466A>G	c.(1465-1467)tAc>tGc	p.Y489C	YES1_ENST00000577961.1_Missense_Mutation_p.Y494C|YES1_ENST00000314574.4_Missense_Mutation_p.Y489C			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	489	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	CGGCATCCTGTATCCTCGCTC	0.413000													23	58					0	0	0.002780	0	0
LRFN5	145581	broad.mit.edu	37	14	42356687	42356687	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:42356687C>T	ENST00000554171.1	+	5	3291	c.859C>T	c.(859-861)Cct>Tct	p.P287S	LRFN5_ENST00000298119.4_Missense_Mutation_p.P287S|LRFN5_ENST00000554120.1_Missense_Mutation_p.P287S			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	287	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTGTGAGCCTCCTCTCATTAC	0.493000										HNSCC(30;0.082)			16	56					0	0	0.003163	0	0
KIRREL	55243	broad.mit.edu	37	1	158064161	158064161	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:158064161G>A	ENST00000368172.1	+	10	1232	c.1220G>A	c.(1219-1221)cGg>cAg	p.R407Q	KIRREL_ENST00000416935.2_Missense_Mutation_p.R493Q|KIRREL_ENST00000368173.3_Missense_Mutation_p.R609Q|KIRREL_ENST00000392272.2_Missense_Mutation_p.R490Q|KIRREL_ENST00000359209.6_Missense_Mutation_p.R593Q|KIRREL_ENST00000360089.4_Missense_Mutation_p.R429Q			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	593	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATCGACACCCGGGAGGAGTAT	0.612000													4	19					0	0	0.009096	0	0
CCDC18	343099	broad.mit.edu	37	1	93646363	93646363	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:93646363C>T	ENST00000557479.1	+	1	444	c.276C>T	c.(274-276)gtC>gtT	p.V92V	CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		GGGAAAGGGTCAGAGGCTTCC	0.672000													12	52					0	0	0.001855	0	0
DIP2C	22982	broad.mit.edu	37	10	486827	486827	+	Silent	SNP	G	G	A	rs139321678	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:486827G>A	ENST00000280886.6	-	4	465	c.378C>T	c.(376-378)gaC>gaT	p.D126D	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Silent_p.D19D	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	126						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GGGTGTAGGCGTCCATCGAGG	0.607000													15	45					0	0	0.006122	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730558	140730558	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:140730558A>G	ENST00000523390.1	+	1	731	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGTATACAGGGTTAGC	0.567000													16	46					0	0	0.004007	0	0
TBC1D12	23232	broad.mit.edu	37	10	96162370	96162370	+	Translation_Start_Site	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:96162370G>A	ENST00000225235.4	+	0	110					NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12							intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CCCACCCCCAGATGGTGGGTC	0.697000													4	25					0	0	0.009096	0	0
HTRA2	27429	broad.mit.edu	37	2	74757805	74757805	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:74757805G>A	ENST00000258080.3	+	2	1198	c.568G>A	c.(568-570)Gat>Aat	p.D190N	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.D190N	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	190	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GGTGGCTGCCGATGGGCTCAT	0.592000													22	50					0	0	0.012319	0	0
AJUBA	84962	broad.mit.edu	37	14	23451348	23451348	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:23451348C>T	ENST00000262713.2	-	1	503	c.128G>A	c.(127-129)gGa>gAa	p.G43E	RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Missense_Mutation_p.G43E	NM_032876.4	NP_116265.1	Q96IF1	JUB_HUMAN	ajuba LIM protein	43	PreLIM.				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding										CTTCCTAGGTCCCCCCAACCC	0.677000													11	42					0	0	0.010729	0	0
DTNB	1838	broad.mit.edu	37	2	25851188	25851188	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:25851188G>A	ENST00000406818.3	-	4	463	c.214C>T	c.(214-216)Cat>Tat	p.H72Y	DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000407661.3_Missense_Mutation_p.H72Y|DTNB_ENST00000404103.3_Missense_Mutation_p.H72Y|DTNB_ENST00000405222.1_Missense_Mutation_p.H72Y|DTNB_ENST00000496972.2_Missense_Mutation_p.H15Y|DTNB_ENST00000407038.3_Missense_Mutation_p.H72Y|DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000407186.1_Missense_Mutation_p.H72Y|DTNB_ENST00000288642.8_Missense_Mutation_p.H72Y	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	72						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGTGGTATGGTCCAGTGTA	0.418000													12	34					0	0	0.010729	0	0
TRMT11	60487	broad.mit.edu	37	6	126320655	126320655	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:126320655A>G	ENST00000334379.5	+	7	696	c.575A>G	c.(574-576)cAc>cGc	p.H192R	TRMT11_ENST00000368332.3_Missense_Mutation_p.H192R|TRMT11_ENST00000450358.1_Missense_Mutation_p.H192R	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	192					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		AAAAAGAGACACTTTATTGGA	0.338000													32	16					0	0	0.010818	0	0
DOPEY2	9980	broad.mit.edu	37	21	37571421	37571421	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:37571421C>T	ENST00000399151.3	+	3	277	c.192C>T	c.(190-192)agC>agT	p.S64S	DOPEY2_ENST00000492760.1_Intron	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	64					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTCATCAGCAAAAGATTAG	0.458000													19	43					0	0	0.007413	0	0
TNKS2	80351	broad.mit.edu	37	10	93605573	93605573	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:93605573C>G	ENST00000371627.4	+	18	2613	c.2234C>G	c.(2233-2235)gCt>gGt	p.A745G		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	745					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GACAAATGGGCTTTCACACCT	0.433000													6	46					0	0	0.001168	0	0
PRKD1	5587	broad.mit.edu	37	14	30046445	30046445	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:30046445C>T	ENST00000331968.5	-	18	2967	c.2738G>A	c.(2737-2739)tGa>tAa	p.*913*	PRKD1_ENST00000415220.2_Silent_p.*921*	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	0					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AGATGGAACTCAGAGGATGCT	0.443000													19	46					0	0	0.010504	0	0
DMRT2	10655	broad.mit.edu	37	9	1057223	1057223	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:1057223G>C	ENST00000382251.3	+	5	1965	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.E546Q|DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000302441.6_Missense_Mutation_p.E546Q			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	546					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		ATTTTCTGTTGAGTCTATTCT	0.393000													22	19					0	0	0.003330	0	0
EPHA6	285220	broad.mit.edu	37	3	96706689	96706689	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:96706689T>C	ENST00000389672.5	+	3	1004	c.966T>C	c.(964-966)tcT>tcC	p.S322S	EPHA6_ENST00000542517.1_Silent_p.S228S|EPHA6_ENST00000470610.2_Silent_p.S322S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	227						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCCTCCTCTTTGGTTGAAG	0.473000													56	128					0	0	0.014410	0	0
TRIL	9865	broad.mit.edu	37	7	28996568	28996568	+	RNA	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:28996568G>A	ENST00000322982.3	-	0	1366							Q7L0X0	TRIL_HUMAN	TLR4 interactor with leucine-rich repeats						inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding										CTCGCAGCCGGCAGTCGCAGG	0.687000													4	10					0	0	0.009096	0	0
VPS26A	9559	broad.mit.edu	37	10	70930917	70930917	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:70930917A>G	ENST00000373382.1	+	10	1529	c.876A>G	c.(874-876)atA>atG	p.I292M	VPS26A_ENST00000489794.1_Missense_Mutation_p.N220D|VPS26A_ENST00000541711.1_Missense_Mutation_p.I181M|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.I292M|VPS26A_ENST00000395098.1_Missense_Mutation_p.N245D|VPS26A_ENST00000546041.1_Missense_Mutation_p.I275M			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	292					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						ACTAGGAGATAATTTTATGGA	0.338000													23	64					0	0	0.014323	0	0
PIK3R4	30849	broad.mit.edu	37	3	130405056	130405056	+	Splice_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:130405056A>G	ENST00000356763.3	-	15	4031	c.3474T>C	c.(3472-3474)atT>atC	p.I1158I	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1158					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTAGCTTACCAATGCAGAGCC	0.428000													25	25					0	0	0.005443	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745831	77745831	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:77745831G>T	ENST00000409088.3	-	3	1578	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	LRRTM4_ENST00000409093.1_Silent_p.T388T|LRRTM4_ENST00000409911.1_Silent_p.T389T|LRRTM4_ENST00000409282.1_Silent_p.T389T|LRRTM4_ENST00000409884.1_Silent_p.T388T	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	388						integral to membrane		p.T388T(4)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTTTGAAGATGGTAGGTCTAG	0.473000													14	44					6.72482e-11	7.16469e-11	0.003163	1	0
ABLIM2	84448	broad.mit.edu	37	4	8021986	8021986	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:8021986C>T	ENST00000296372.8	-	12	1355	c.1213G>A	c.(1213-1215)Gac>Aac	p.D405N	ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000341937.5_Missense_Mutation_p.D405N|ABLIM2_ENST00000447017.2_Missense_Mutation_p.D438N|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000361581.5_Missense_Mutation_p.D405N|ABLIM2_ENST00000545242.1_Missense_Mutation_p.D405N			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	405					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGCTTGCTGTCAGAGAGCACG	0.622000													7	27					0	0	0.001984	0	0
LIG3	3980	broad.mit.edu	37	17	33325294	33325294	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:33325294G>A	ENST00000378526.4	+	13	2101	c.1968G>A	c.(1966-1968)ggG>ggA	p.G656G	LIG3_ENST00000262327.5_Silent_p.G656G	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	656					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GATTGGAGGGGCTGGTGCTGA	0.562000								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	42					0	0	0.002450	0	0
APRT	353	broad.mit.edu	37	16	88877971	88877971	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:88877971G>A	ENST00000378364.3	-	2	218	c.174C>T	c.(172-174)atC>atT	p.I58I	APRT_ENST00000563655.1_Silent_p.I58I|APRT_ENST00000426324.2_Silent_p.I58I	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	58					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CGATGTAGTCGATGCGGCCCC	0.721000													4	7					0	0	0.001168	0	0
NHLRC3	387921	broad.mit.edu	37	13	39621938	39621938	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:39621938C>T	ENST00000379600.3	+	7	1241	c.919C>T	c.(919-921)Caa>Taa	p.Q307*	NHLRC3_ENST00000379599.2_Nonsense_Mutation_p.Q240*|NHLRC3_ENST00000470258.1_Nonsense_Mutation_p.Q110*	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	307						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		ACTAGCAGATCAAGTTTTGCC	0.468000													18	43					0	0	0.012319	0	0
MUC16	94025	broad.mit.edu	37	19	9057298	9057298	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:9057298C>T	ENST00000397910.4	-	3	30351	c.30148G>A	c.(30148-30150)Gtg>Atg	p.V10050M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10052	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTGAAGTCACAGAAAAAGAG	0.463000													16	24					0	0	0.004007	0	0
B3GALT1	8708	broad.mit.edu	37	2	168725897	168725897	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:168725897C>T	ENST00000392690.3	+	1	440	c.348C>T	c.(346-348)ttC>ttT	p.F116F	AC016723.4_ENST00000436982.2_RNA|AC016723.4_ENST00000430546.1_RNA|B3GALT1_ENST00000305861.1_Silent_p.F116F			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCACCCTGTTCCTCCTGGGCA	0.488000													18	33					0	0	0.008871	0	0
RDH10	157506	broad.mit.edu	37	8	74233221	74233221	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:74233221G>A	ENST00000240285.5	+	4	1357	c.679G>A	c.(679-681)Gaa>Aaa	p.E227K	RP11-434I12.2_ENST00000517475.1_RNA|RDH10_ENST00000519380.1_Missense_Mutation_p.E62K|RP11-434I12.2_ENST00000514599.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	227					retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CCTGAGCCATGAACTAAAGGC	0.443000													31	49					0	0	0.013726	0	0
HAL	3034	broad.mit.edu	37	12	96374496	96374496	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:96374496G>C	ENST00000261208.3	-	17	1725	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V	HAL_ENST00000538703.1_Missense_Mutation_p.L453V|HAL_ENST00000541929.1_Missense_Mutation_p.L245V	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	453					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	AAGTAGTCTAGGGCCTGAAAG	0.493000													20	72					0	0	0.005443	0	0
ETAA1	54465	broad.mit.edu	37	2	67630885	67630885	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:67630885G>A	ENST00000272342.5	+	5	1201	c.1071G>A	c.(1069-1071)gtG>gtA	p.V357V	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	357						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						AATCATGTGTGACTTCCTGTA	0.353000													22	27					0	0	0.002780	0	0
TTLL12	23170	broad.mit.edu	37	22	43570524	43570524	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:43570524A>C	ENST00000216129.6	-	7	1078	c.1015T>G	c.(1015-1017)Tca>Gca	p.S339A	TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	339	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TTGAAGTGTGAGAAGTTGAAG	0.657000													28	46					0	0	0.010818	0	0
FAM84A	151354	broad.mit.edu	37	2	14774914	14774914	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:14774914C>T	ENST00000295092.2	+	2	1099	c.811C>T	c.(811-813)Cgt>Tgt	p.R271C	FAM84A_ENST00000331243.4_Missense_Mutation_p.R271C	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	271										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CGAGAAGCGCCGTATCGACGC	0.667000													5	30					0	0	0.001168	0	0
PLXNA2	5362	broad.mit.edu	37	1	208390236	208390236	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:208390236C>T	ENST00000367033.3	-	2	1789	c.1032G>A	c.(1030-1032)aaG>aaA	p.K344K		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	344	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTGATACTGCTTCTGCCCTT	0.592000													20	30					0	0	0.008871	0	0
PAX4	5078	broad.mit.edu	37	7	127251629	127251629	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:127251629C>T	ENST00000338516.3	-	8	816	c.817G>A	c.(817-819)Gag>Aag	p.E273K	PAX4_ENST00000341640.2_Silent_p.L283L|PAX4_ENST00000463946.1_Silent_p.L281L|PAX4_ENST00000378740.2_Silent_p.L283L			O43316	PAX4_HUMAN	paired box 4	0					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGTGTCACTCAGACACCTTT	0.607000													20	105					0	0	0.008871	0	0
TTC9	23508	broad.mit.edu	37	14	71134362	71134362	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:71134362A>C	ENST00000256367.2	+	2	831	c.488A>C	c.(487-489)aAc>aCc	p.N163T		NM_015351.1	NP_056166.1	Q92623	TTC9A_HUMAN	tetratricopeptide repeat domain 9	163							binding			skin(1)	1				all cancers(60;0.00545)|BRCA - Breast invasive adenocarcinoma(234;0.00747)|OV - Ovarian serous cystadenocarcinoma(108;0.0538)		GAAGGGGAGAACTTCAAGGCC	0.507000													17	48					0	0	0.004007	0	0
KIFC1	3833	broad.mit.edu	37	6	33371898	33371898	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:33371898G>A	ENST00000428849.2	+	6	1198	c.748G>A	c.(748-750)Gag>Aag	p.E250K		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	250					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						CCAACTAGAGGAGAAGGAGGT	0.572000													14	16					0	0	0.004007	0	0
ZDHHC5	25921	broad.mit.edu	37	11	57467491	57467491	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:57467491G>A	ENST00000287169.3	+	12	3498	c.2136G>A	c.(2134-2136)gaG>gaA	p.E712E	ZDHHC5_ENST00000527985.1_Silent_p.E659E	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	712						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CCACCTATGAGATTTCGGTGT	0.647000													11	10					0	0	0.008291	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780363	24780363	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:24780363G>A	ENST00000528054.1	+	1	2203	c.586G>A	c.(586-588)Gac>Aac	p.D196N	CIDEB_ENST00000258807.5_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.D165N|CIDEB_ENST00000336557.5_5'UTR|CIDEB_ENST00000555817.1_Intron|LTB4R2_ENST00000533293.1_Missense_Mutation_p.D165N			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	196					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CCTGTGGAGGGACCGCGTATG	0.731000													6	15					0	0	0.001984	0	0
DDX60L	91351	broad.mit.edu	37	4	169296610	169296610	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:169296610C>T	ENST00000511577.1	-	34	4798	c.4551G>A	c.(4549-4551)atG>atA	p.M1517I	DDX60L_ENST00000260184.7_Missense_Mutation_p.M1517I			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1517							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CAAAATCCTTCATTACTGCCA	0.408000													4	14					0	0	0.000602	0	0
ATG2A	23130	broad.mit.edu	37	11	64669497	64669497	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:64669497G>A	ENST00000421419.2	-	29	4176	c.4062C>T	c.(4060-4062)ggC>ggT	p.G1354G	ATG2A_ENST00000377264.3_Silent_p.G1352G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1352							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGTCTCCATCGCCCTCCTCTT	0.627000													8	95					0	0	0.006214	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45522807	45522807	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:45522807C>T	ENST00000291574.4	+	22	3670	c.3495C>T	c.(3493-3495)ttC>ttT	p.F1165F		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1165					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TCAGGCTGTTCAAGTACCTCC	0.552000													41	75					0	0	0.014410	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921549	167921549	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:167921549G>A	ENST00000357154.3	-	5	447	c.310C>T	c.(310-312)Caa>Taa	p.Q104*	SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000511269.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000511531.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000502330.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000535728.1_Nonsense_Mutation_p.Q12*|SPOCK3_ENST00000512648.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000510741.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000506886.1_Nonsense_Mutation_p.Q104*|SPOCK3_ENST00000504953.1_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000421836.2_Nonsense_Mutation_p.Q53*|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Nonsense_Mutation_p.Q101*|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000512681.1_Intron	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	104					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGAGAATCTTGAGCAATGCAT	0.378000													19	33					0	0	0.010504	0	0
MYBPC1	4604	broad.mit.edu	37	12	102036322	102036322	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:102036322A>G	ENST00000549145.1	+	10	855	c.755A>G	c.(754-756)aAg>aGg	p.K252R	MYBPC1_ENST00000452455.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000547509.1_Missense_Mutation_p.K225R|MYBPC1_ENST00000547405.1_Missense_Mutation_p.K213R|MYBPC1_ENST00000550270.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000536007.1_Missense_Mutation_p.K220R|MYBPC1_ENST00000551300.1_Missense_Mutation_p.K140R|MYBPC1_ENST00000541119.1_Missense_Mutation_p.K227R|MYBPC1_ENST00000392934.3_Missense_Mutation_p.K226R|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000361685.2_Missense_Mutation_p.K264R|MYBPC1_ENST00000441232.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000360610.2_Missense_Mutation_p.K239R|MYBPC1_ENST00000553190.1_Missense_Mutation_p.K239R|MYBPC1_ENST00000361466.2_Missense_Mutation_p.K264R			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	239	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GGCATGCTCAAGCGACTCAAG	0.627000													14	26					0	0	0.001855	0	0
HMMR	3161	broad.mit.edu	37	5	162894721	162894721	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:162894721G>A	ENST00000393915.4	+	4	383	c.240G>A	c.(238-240)aaG>aaA	p.K80K	HMMR_ENST00000353866.3_Intron|HMMR_ENST00000432118.2_Intron|HMMR_ENST00000358715.3_Silent_p.K79K	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	79						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AATCTCAAAAGAATGATAAAG	0.294000													3	19					0	0	0.004672	0	0
SLC7A13	157724	broad.mit.edu	37	8	87241991	87241991	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:87241991G>A	ENST00000297524.3	-	1	619	c.516C>T	c.(514-516)agC>agT	p.S172S	SLC7A13_ENST00000419776.2_Silent_p.S172S|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	172						integral to membrane	amino acid transmembrane transporter activity	p.S172S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGGAAATGAAGCTAAGTATGG	0.423000													30	35					0	0	0.013726	0	0
TDRD10	126668	broad.mit.edu	37	1	154493838	154493838	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:154493838A>G	ENST00000368482.4	+	6	1090	c.252A>G	c.(250-252)acA>acG	p.T84T	TDRD10_ENST00000368480.3_Silent_p.T84T	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	84	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAAAGTGACACTTGCAATCC	0.498000													48	127					0	0	0.014410	0	0
HRAS	3265	broad.mit.edu	37	11	534226	534226	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:534226C>T	ENST00000417302.1	-	2	284	c.97G>A	c.(97-99)Gac>Aac	p.D33N	HRAS_ENST00000397596.2_Missense_Mutation_p.D33N|HRAS_ENST00000451590.1_Missense_Mutation_p.D33N|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.D33N|HRAS_ENST00000311189.7_Missense_Mutation_p.D33N	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	33					activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Sulindac(DB00605)	ATAGTGGGGTCGTATTCGTCC	0.637000		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)			13	25					0	0	0.013537	0	0
LGR5	8549	broad.mit.edu	37	12	71833861	71833861	+	Translation_Start_Site	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:71833861A>G	ENST00000266674.5	+	1	312	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	LGR5_ENST00000536515.1_Start_Codon_SNP_p.M1V|LGR5_ENST00000540815.2_Start_Codon_SNP_p.M1V|TSPAN8_ENST00000393330.2_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	1						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TTCGGGCACCATGGACACCTC	0.721000													28	38					0	0	0.007291	0	0
PC	5091	broad.mit.edu	37	11	66617203	66617203	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:66617203G>A	ENST00000393960.1	-	21	3307	c.3026C>T	c.(3025-3027)tCa>tTa	p.S1009L	PC_ENST00000393955.2_Missense_Mutation_p.S1009L|PC_ENST00000529047.1_Missense_Mutation_p.S129L|PC_ENST00000393958.2_Missense_Mutation_p.S1009L|PC_ENST00000528224.1_5'UTR	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	1009					gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622000													9	43					0	0	0.006214	0	0
PHF20L1	51105	broad.mit.edu	37	8	133816268	133816268	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:133816268G>A	ENST00000395386.2	+	7	1011	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	PHF20L1_ENST00000395376.1_Missense_Mutation_p.E242K|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000337920.4_Missense_Mutation_p.E212K|PHF20L1_ENST00000395379.1_Missense_Mutation_p.E238K|PHF20L1_ENST00000395390.2_Missense_Mutation_p.E212K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	238							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACATCTAGTGAAACATTTGG	0.368000													4	23					0	0	0.009096	0	0
KLHL28	54813	broad.mit.edu	37	14	45414370	45414370	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:45414370C>T	ENST00000396128.4	-	2	881	c.762G>A	c.(760-762)ttG>ttA	p.L254L	KLHL28_ENST00000355081.2_Silent_p.L268L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	254										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGGCTTCATTCAAAAGATGTT	0.398000													6	30					0	0	0.001168	0	0
MAGI1	9223	broad.mit.edu	37	3	65346992	65346992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:65346992C>T	ENST00000330909.8	-	23	3599	c.3600G>A	c.(3598-3600)gaG>gaA	p.E1200E	MAGI1_ENST00000402939.2_Silent_p.E1172E|MAGI1_ENST00000483466.1_Silent_p.E1201E|MAGI1_ENST00000497477.2_Silent_p.E1105E	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1201	PDZ 6.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CACCATTGATCTCTAAAATTT	0.408000													21	30					0	0	0.012319	0	0
FCGBP	8857	broad.mit.edu	37	19	40366091	40366091	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:40366091A>G	ENST00000221347.6	-	30	14150	c.14143T>C	c.(14143-14145)Tac>Cac	p.Y4715H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4715						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGCCACGTAGGTAGCCACT	0.662000													42	20					0	0	0.010771	0	0
EP300	2033	broad.mit.edu	37	22	41513289	41513289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:41513289C>T	ENST00000263253.7	+	2	1412	c.193C>T	c.(193-195)Cag>Tag	p.Q65*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	65	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Q65*(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAATCAGCTTCAGACAAGTCT	0.418000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				19	43					0	0	0.008871	0	0
TALDO1	6888	broad.mit.edu	37	11	763392	763392	+	Silent	SNP	C	C	T	rs137853085		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:763392C>T	ENST00000319006.3	+	5	663	c.510C>T	c.(508-510)ttC>ttT	p.F170F	TALDO1_ENST00000528097.1_Silent_p.F170F			P37837	TALDO_HUMAN	transaldolase 1	170					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	p.S171delS(1)		breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTACTCTTCTCCTTCGCCC	0.637000													31	55					0	0	0.012213	0	0
ANGPT2	285	broad.mit.edu	37	8	6378704	6378704	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:6378704G>C	ENST00000325203.5	-	4	1268	c.794C>G	c.(793-795)tCa>tGa	p.S265*	ANGPT2_ENST00000338312.6_Nonsense_Mutation_p.S213*|ANGPT2_ENST00000415216.1_Nonsense_Mutation_p.S265*|ANGPT2_ENST00000523120.1_Nonsense_Mutation_p.S265*|MCPH1_ENST00000344683.5_Intron			O15123	ANGP2_HUMAN	angiopoietin 2	265					angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTTACAGTTTGATGTGGACAT	0.353000													6	26					0	0	0.001984	0	0
TMEM159	57146	broad.mit.edu	37	16	21172532	21172532	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:21172532C>T	ENST00000233047.4	+	2	497	c.29C>T	c.(28-30)tCa>tTa	p.S10L	TMEM159_ENST00000572599.1_Missense_Mutation_p.S10L|TMEM159_ENST00000572258.1_Missense_Mutation_p.S10L|TMEM159_ENST00000451578.2_Missense_Mutation_p.S10L|TMEM159_ENST00000574092.1_3'UTR|TMEM159_ENST00000261388.3_Missense_Mutation_p.S10L			Q96B96	TM159_HUMAN	transmembrane protein 159	10						integral to membrane				large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		CAGAGTATCTCAAGGGACTTG	0.448000													24	52					0	0	0.005443	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972236	22972236	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:22972236C>T	ENST00000356864.3	+	3	765	c.233C>T	c.(232-234)gCt>gTt	p.A78V	TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	78					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TACACCAACGCTTCCAACAAT	0.483000													29	40					0	0	0.003755	0	0
WT1	7490	broad.mit.edu	37	11	32410605	32410605	+	Nonstop_Mutation	SNP	C	C	G	rs148856160		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:32410605C>G	ENST00000332351.3	-	10	1837	c.1553G>C	c.(1552-1554)tGa>tCa	p.*518S	WT1_ENST00000379079.2_Nonstop_Mutation_p.*303S|WT1_ENST00000448076.3_Nonstop_Mutation_p.*515S|WT1_ENST00000530998.1_Nonstop_Mutation_p.*289S	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	0					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GGAGACCCCTCAAAGCGCCAG	0.517000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				25	30					0	0	0.004656	0	0
PRDX5	25824	broad.mit.edu	37	11	64085722	64085722	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:64085722C>T	ENST00000265462.4	+	1	163	c.35C>T	c.(34-36)tCa>tTa	p.S12L	PRDX5_ENST00000347941.4_Missense_Mutation_p.S12L|PRDX5_ENST00000352435.4_Missense_Mutation_p.S12L	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	12					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CTGAGACGCTCAGCGGGCTAT	0.697000													6	39					0	0	0.001984	0	0
CHD7	55636	broad.mit.edu	37	8	61693742	61693742	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:61693742A>G	ENST00000423902.2	+	3	2328	c.1849A>G	c.(1849-1851)Aaa>Gaa	p.K617E	CHD7_ENST00000525508.1_Missense_Mutation_p.K617E|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	617	Lys-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGGTTTTGGTAAAGATGACTT	0.393000													9	7					0	0	0.006214	0	0
SHQ1	55164	broad.mit.edu	37	3	72897392	72897392	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:72897392C>T	ENST00000325599.8	-	1	239	c.100G>A	c.(100-102)Gag>Aag	p.E34K		NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	34	CS.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGACCCCTCGAAGTAGACG	0.592000													73	139					0	0	0.014410	0	0
TNS1	7145	broad.mit.edu	37	2	218762563	218762563	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:218762563C>G	ENST00000171887.4	-	6	578	c.126G>C	c.(124-126)gaG>gaC	p.E42D	TNS1_ENST00000430930.1_Missense_Mutation_p.E42D|TNS1_ENST00000310858.6_Missense_Mutation_p.E73D|TNS1_ENST00000419504.1_Missense_Mutation_p.E42D	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	42	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		TCTGCGCCACCTCACGGAGGT	0.572000													31	43					0	0	0.008361	0	0
CHD1	1105	broad.mit.edu	37	5	98235320	98235320	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:98235320G>A	ENST00000284049.3	-	7	1098	c.949C>T	c.(949-951)Cag>Tag	p.Q317*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	317	Chromo 1.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ATTAAATACTGAATCTCTCCT	0.398000													56	119					0	0	0.014410	0	0
SP110	3431	broad.mit.edu	37	2	231035336	231035336	+	Splice_Site	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:231035336C>T	ENST00000258381.6	-	18	2106		c.e18+1		SP110_ENST00000358662.4_Splice_Site|AC009950.2_ENST00000609120.1_RNA	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein						interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		ATGCTCTTTACCTTGTAAAAT	0.443000													10	25					0	0	0.010729	0	0
TTC21A	199223	broad.mit.edu	37	3	39166997	39166997	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:39166997G>A	ENST00000301819.6	+	11	1567	c.1390G>A	c.(1390-1392)Gag>Aag	p.E464K	TTC21A_ENST00000431162.2_Missense_Mutation_p.E464K|TTC21A_ENST00000440121.1_Missense_Mutation_p.E415K	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	464							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CATTGCTAAGGAGTACTTGCT	0.552000													28	96					0	0	0.013726	0	0
PRRT2	112476	broad.mit.edu	37	16	29824989	29824989	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:29824989C>T	ENST00000300797.6	+	2	788	c.614C>T	c.(613-615)tCa>tTa	p.S205L	PRRT2_ENST00000358758.7_Missense_Mutation_p.S205L|PRRT2_ENST00000567659.1_Missense_Mutation_p.S205L|PRRT2_ENST00000567551.1_Intron|AC009133.20_ENST00000569039.1_RNA			Q7Z6L0	PRRT2_HUMAN	proline-rich transmembrane protein 2	205	Pro-rich.				response to biotic stimulus	integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	8						TCACCACCCTCAAAAAAATCC	0.612000													7	8					0	0	0.003080	0	0
HSP90B1	7184	broad.mit.edu	37	12	104336508	104336508	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:104336508G>A	ENST00000299767.5	+	12	1760	c.1578G>A	c.(1576-1578)caG>caA	p.Q526Q		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	526					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	GCCTAGACCAGTATGTGGAAA	0.423000													18	60					0	0	0.006122	0	0
AKNAD1	254268	broad.mit.edu	37	1	109380186	109380186	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:109380186A>T	ENST00000370001.3	-	7	1790	c.1522T>A	c.(1522-1524)Tca>Aca	p.S508T	AKNAD1_ENST00000357393.4_Missense_Mutation_p.S215T|AKNAD1_ENST00000369994.1_Missense_Mutation_p.S508T|AKNAD1_ENST00000369995.3_Missense_Mutation_p.S508T	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	508										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGAGAGTGAAGAGAAGGTG	0.393000													4	62					0	0	0.000602	0	0
TTC13	79573	broad.mit.edu	37	1	231069546	231069546	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:231069546T>G	ENST00000366661.4	-	9	969	c.962A>C	c.(961-963)aAa>aCa	p.K321T	TTC13_ENST00000414259.1_Missense_Mutation_p.K268T|TTC13_ENST00000366662.4_Missense_Mutation_p.K268T	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	321							binding	p.K321T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		CCCTAGACTTTTATATGCATC	0.343000													27	72					0	0	0.013726	0	0
RBMXL1	494115	broad.mit.edu	37	1	89449393	89449393	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:89449393C>T	ENST00000399794.2	-	3	832	c.117G>A	c.(115-117)ttG>ttA	p.L39L	RBMXL1_ENST00000321792.5_Silent_p.L39L|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	39	RRM.						nucleotide binding|RNA binding										GGTCTTTTATCAAGAGTACTT	0.423000											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	124					0	0	0.013726	0	0
CXCL14	9547	broad.mit.edu	37	5	134914132	134914132	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:134914132C>A	ENST00000337225.5	-	2	662	c.198G>T	c.(196-198)aaG>aaT	p.K66N	CXCL14_ENST00000512158.1_Missense_Mutation_p.K54N|CTC-321K16.1_ENST00000509372.1_RNA	NM_004887.4	NP_004878.2	O95715	CXL14_HUMAN	chemokine (C-X-C motif) ligand 14	66					cell-cell signaling|chemotaxis|immune response|signal transduction	extracellular space|Golgi apparatus	chemokine activity			large_intestine(2)|lung(2)|prostate(1)|skin(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACATAACCATCTTCTCCTCGC	0.572000													29	66					8.58068e-18	9.24661e-18	0.007291	1	0
PRB2	653247	broad.mit.edu	37	12	11547453	11547453	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:11547453C>A	ENST00000389362.4	-	2	111	c.76G>T	c.(76-78)Gaa>Taa	p.E26*	PRB2_ENST00000545829.1_5'UTR|PRB1_ENST00000546254.1_Nonsense_Mutation_p.E26*	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGAGATTCTTCCTGGCTGACA	0.428000													29	81					1.16021e-09	1.22991e-09	0.007291	1	0
TMEM182	130827	broad.mit.edu	37	2	103380863	103380863	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:103380863C>G	ENST00000412401.2	+	3	513	c.308C>G	c.(307-309)tCg>tGg	p.S103W	TMEM182_ENST00000409173.1_Missense_Mutation_p.S60W|TMEM182_ENST00000486293.1_3'UTR|TMEM182_ENST00000409528.1_Missense_Mutation_p.S7W	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	103						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						GAGCACAACTCGACCTCCTAT	0.483000													38	63					0	0	0.006999	0	0
GGTLC2	91227	broad.mit.edu	37	22	22989480	22989480	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:22989480C>T	ENST00000448514.1	+	3	332	c.332C>T	c.(331-333)cCg>cTg	p.P111L	GGTLC2_ENST00000480559.1_Missense_Mutation_p.P111L			Q14390	GGTL2_HUMAN	gamma-glutamyltransferase light chain 2	111					glutathione biosynthetic process		gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		TCAATGTGCCCGACGATCATG	0.652000													32	91					0	0	0.003755	0	0
NCOA3	8202	broad.mit.edu	37	20	46279830	46279830	+	Silent	SNP	G	G	A	rs147918555		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:46279830G>A	ENST00000372004.3	+	20	3960	c.3744G>A	c.(3742-3744)caG>caA	p.Q1248Q	NCOA3_ENST00000341724.6_Silent_p.Q1178Q|NCOA3_ENST00000371998.3_Silent_p.Q1252Q|NCOA3_ENST00000371997.3_Silent_p.Q1243Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1252	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	p.Q1252Q(3)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.547000													4	50					0	0	0.009096	0	0
OR8H1	219469	broad.mit.edu	37	11	56058202	56058202	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:56058202G>T	ENST00000313022.2	-	1	364	c.337C>A	c.(337-339)Ctt>Att	p.L113I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GATGAGAGAAGAAAACATTCA	0.438000													28	92					2.12542e-12	2.26729e-12	0.006320	1	0
TSKS	60385	broad.mit.edu	37	19	50243365	50243365	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:50243365C>T	ENST00000246801.3	-	10	1655	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	TSKS_ENST00000358830.3_Missense_Mutation_p.E325K	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	525							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CGCAGGGCCTCGTCTTGGGCC	0.632000													68	35					0	0	0.014410	0	0
DAK	26007	broad.mit.edu	37	11	61111381	61111381	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:61111381G>A	ENST00000394900.3	+	12	1265	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	346					glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CTCCATTACTGGGCGGAAGCG	0.622000													15	83					0	0	0.002450	0	0
TMEM19	55266	broad.mit.edu	37	12	72080580	72080580	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:72080580C>A	ENST00000266673.5	+	1	714	c.120C>A	c.(118-120)agC>agA	p.S40R	TMEM19_ENST00000549735.1_Missense_Mutation_p.S40R|RP11-293I14.2_ENST00000548802.1_Intron	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	40						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TGACTGCAAGCACCTATTATG	0.318000													7	49					0.000274275	0.000283306	0.004482	1	0
ASPSCR1	79058	broad.mit.edu	37	17	79954451	79954451	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:79954451C>T	ENST00000306729.7	+	7	759	c.662C>T	c.(661-663)tCa>tTa	p.S221L	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.S144L|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.S221L	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	221							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			GCGGACACCTCAGGGCCCTGC	0.682000			T	TFE3	alveolar soft part sarcoma								6	23					0	0	0.001168	0	0
ANP32A	8125	broad.mit.edu	37	15	69080146	69080146	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:69080146G>A	ENST00000465139.2	-	2	310	c.167C>T	c.(166-168)tCa>tTa	p.S56L	ANP32A_ENST00000560303.1_Missense_Mutation_p.S56L|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	56					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						GTTTGCGATTGAGGTGAGGCC	0.468000													13	56					0	0	0.013537	0	0
TTN	7273	broad.mit.edu	37	2	179650673	179650673	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:179650673G>C	ENST00000589042.1	-	14	2496	c.2272C>G	c.(2272-2274)Cac>Gac	p.H758D	TTN_ENST00000360870.5_Missense_Mutation_p.H758D|TTN_ENST00000591111.1_Missense_Mutation_p.H758D|TTN_ENST00000359218.5_Missense_Mutation_p.H712D|TTN_ENST00000460472.2_Missense_Mutation_p.H712D|TTN_ENST00000342175.6_Missense_Mutation_p.H712D|TTN_ENST00000342992.6_Missense_Mutation_p.H758D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	758							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACAACGTGGGGTTCTGAG	0.488000													28	45					0	0	0.006320	0	0
ARSH	347527	broad.mit.edu	37	X	2945385	2945385	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:2945385T>C	ENST00000381130.2	+	7	1068	c.1068T>C	c.(1066-1068)ggT>ggC	p.G356G		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	356						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GGGAAGGAGGTATCCGTGTGC	0.522000													36	20					0	0	0.006230	0	0
TRMT12	55039	broad.mit.edu	37	8	125463982	125463982	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:125463982G>T	ENST00000328599.3	+	1	935	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	272					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CCATGCTGTAGTTGCTCTGAG	0.438000													19	130					8.28177e-16	8.90185e-16	0.007413	1	0
GIGYF2	26058	broad.mit.edu	37	2	233651882	233651882	+	Silent	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:233651882T>G	ENST00000373566.3	+	10	818	c.621T>G	c.(619-621)ggT>ggG	p.G207G	GIGYF2_ENST00000409547.1_Silent_p.G185G|GIGYF2_ENST00000373563.4_Silent_p.G185G|GIGYF2_ENST00000409480.1_Silent_p.G207G|GIGYF2_ENST00000409196.3_Silent_p.G185G|GIGYF2_ENST00000409451.3_Silent_p.G207G|GIGYF2_ENST00000452341.2_Silent_p.G16G			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	185	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TTGAGGAAGGTGGACCAACAT	0.383000													9	41					0	0	0.008291	0	0
BTAF1	9044	broad.mit.edu	37	10	93768614	93768614	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:93768614A>G	ENST00000265990.6	+	27	4150	c.3842A>G	c.(3841-3843)aAt>aGt	p.N1281S	BTAF1_ENST00000544642.1_Missense_Mutation_p.N109S	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1281	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTTCTTAATAAGTATAAA	0.294000													9	42					0	0	0.001855	0	0
C14orf183	196913	broad.mit.edu	37	14	50559295	50559295	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:50559295T>C	ENST00000305273.1	-	1	66	c.67A>G	c.(67-69)Atg>Gtg	p.M23V		NM_001014830.1	NP_001014830.1	Q8WXQ3	CN183_HUMAN	chromosome 14 open reading frame 183	23										endometrium(2)|large_intestine(2)|lung(3)	7						CACATTTCCATCCAGATTTCA	0.438000													11	28					0	0	0.013537	0	0
APC	324	broad.mit.edu	37	5	112154981	112154981	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:112154981G>T	ENST00000457016.1	+	10	1632	c.1252G>T	c.(1252-1254)Gaa>Taa	p.E418*	APC_ENST00000257430.4_Nonsense_Mutation_p.E418*|APC_ENST00000508376.2_Nonsense_Mutation_p.E418*			P25054	APC_HUMAN	adenomatous polyposis coli	418	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CGCTTACTGTGAAACCTGTTG	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			36	30					7.53189e-24	8.13714e-24	0.007835	1	0
ZNF300	91975	broad.mit.edu	37	5	150275006	150275006	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:150275006G>A	ENST00000446148.2	-	7	2270	c.1843C>T	c.(1843-1845)Cac>Tac	p.H615Y	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000418587.2_Missense_Mutation_p.H563Y|ZNF300_ENST00000394226.2_Missense_Mutation_p.H599Y|ZNF300_ENST00000274599.5_Missense_Mutation_p.H599Y	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCACTGTGTGAATTCTCTGG	0.388000													7	46					0	0	0.003080	0	0
CNTN3	5067	broad.mit.edu	37	3	74350557	74350557	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:74350557T>C	ENST00000263665.6	-	15	2114	c.2087A>G	c.(2086-2088)gAa>gGa	p.E696G		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	696					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACCTGCCTCTTCAGTTCTTAC	0.433000													19	62					0	0	0.014323	0	0
PCBP1	5093	broad.mit.edu	37	2	70315790	70315790	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:70315790C>T	ENST00000303577.5	+	1	1206	c.915C>T	c.(913-915)atC>atT	p.I305I	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	305	KH 3.				nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TTAATGAGATCCGCCAGATGT	0.502000													25	39					0	0	0.003330	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220640	20220640	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:20220640G>C	ENST00000361479.5	+	3	495	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E143Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	143					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		TCAGCAAAGTGAGACAAAAGA	0.338000													5	32					0	0	0.001168	0	0
C2orf62	375307	broad.mit.edu	37	2	219229358	219229358	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:219229358T>C	ENST00000289388.3	+	7	667	c.638T>C	c.(637-639)cTg>cCg	p.L213P	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	213										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAAAACCTGGGCTTCCAG	0.562000													38	51					0	0	0.004878	0	0
GNB4	59345	broad.mit.edu	37	3	179119064	179119064	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:179119064T>C	ENST00000232564.3	-	10	1246	c.960A>G	c.(958-960)gtA>gtG	p.V320V	GNB4_ENST00000468623.1_Silent_p.V320V	NM_021629.3	NP_067642.1	Q9HAV0	GBB4_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 4	320					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			CATCATCAGTTACACCTAAGC	0.383000													20	29					0	0	0.014323	0	0
TSPAN6	7105	broad.mit.edu	37	X	99888412	99888412	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:99888412A>T	ENST00000373020.4	-	5	686	c.575T>A	c.(574-576)gTa>gAa	p.V192E	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	192					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						TTCATTGTTTACTTTGTCTGC	0.303000													14	32					0	0	0.004007	0	0
CMTM8	152189	broad.mit.edu	37	3	32280541	32280541	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:32280541G>A	ENST00000307526.3	+	1	371	c.77G>A	c.(76-78)aGc>aAc	p.S26N	CMTM8_ENST00000458535.2_Missense_Mutation_p.S26N	NM_178868.3	NP_849199.2	Q8IZV2	CKLF8_HUMAN	CKLF-like MARVEL transmembrane domain containing 8	26					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						TTCTCCACCAGCAGCAGCAGC	0.706000													5	6					0	0	0.001168	0	0
TRPS1	7227	broad.mit.edu	37	8	116616147	116616147	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:116616147T>A	ENST00000395715.3	-	4	2626	c.2049A>T	c.(2047-2049)aaA>aaT	p.K683N	TRPS1_ENST00000519076.1_Missense_Mutation_p.K424N|TRPS1_ENST00000520276.1_Missense_Mutation_p.K674N|TRPS1_ENST00000220888.5_Missense_Mutation_p.K670N|TRPS1_ENST00000519674.1_Missense_Mutation_p.K670N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	670	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAAAATCACATTTGGTACATG	0.443000									Langer-Giedion syndrome				27	27					0	0	0.008361	0	0
MYCBP2	23077	broad.mit.edu	37	13	77669735	77669735	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:77669735G>A	ENST00000407578.2	-	58	10223	c.9957C>T	c.(9955-9957)gtC>gtT	p.V3319V	MYCBP2_ENST00000357337.6_Silent_p.V3281V|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000544440.2_Silent_p.V3281V	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAGATTGTTTGACCTGGCGAA	0.373000													24	33					0	0	0.004656	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40241433	40241433	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:40241433G>A	ENST00000263791.5	+	4	520	c.477G>A	c.(475-477)caG>caA	p.Q159Q	EIF2AK4_ENST00000382727.2_Silent_p.Q159Q|EIF2AK4_ENST00000559624.1_Silent_p.Q159Q	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	159					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGGAGCAGCAGAGGCTGTTGG	0.542000													10	33					0	0	0.008291	0	0
MPP5	64398	broad.mit.edu	37	14	67768707	67768707	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:67768707G>A	ENST00000261681.4	+	6	1334	c.673G>A	c.(673-675)Gat>Aat	p.D225N	MPP5_ENST00000555925.1_Missense_Mutation_p.D191N	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	225	Interaction with LIN7C (By similarity).|L27 2.				tight junction assembly	cytoplasm|endomembrane system|tight junction	protein domain specific binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		ACTGGCCCACGATAAGGTTGC	0.383000													14	31					0	0	0.002450	0	0
RBP3	5949	broad.mit.edu	37	10	48389779	48389779	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:48389779C>T	ENST00000224600.4	-	1	1212	c.1099G>A	c.(1099-1101)Gat>Aat	p.D367N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	367	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGACCAGATCTTCCTCGGAG	0.632000													14	33					0	0	0.001855	0	0
C17orf74	201243	broad.mit.edu	37	17	7329872	7329872	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:7329872G>T	ENST00000333870.3	+	3	636	c.562G>T	c.(562-564)Gag>Tag	p.E188*	C17orf74_ENST00000574034.1_Missense_Mutation_p.G75V|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	188						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTGGAGGAGGAGGACAACCT	0.592000													54	69					9.72345e-25	1.05182e-24	0.014410	1	0
KIFC2	90990	broad.mit.edu	37	8	145698738	145698738	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:145698738C>T	ENST00000301332.2	+	17	2799	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	808	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GGCTCGGGCTCGGCTCTCGCG	0.701000													5	12					0	0	0.000602	0	0
SERINC3	10955	broad.mit.edu	37	20	43132519	43132519	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:43132519G>A	ENST00000342374.4	-	8	1149	c.992C>T	c.(991-993)tCt>tTt	p.S331F	SERINC3_ENST00000541235.1_Missense_Mutation_p.S276F|SERINC3_ENST00000255175.1_Missense_Mutation_p.S331F	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	331						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			ATCCAGTAAAGACCCACTCTT	0.413000													23	40					0	0	0.014323	0	0
SLC45A3	85414	broad.mit.edu	37	1	205633626	205633626	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:205633626C>T	ENST00000367145.3	-	2	454	c.159G>A	c.(157-159)atG>atA	p.M53I		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	53					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GCACCATGGTCATGAACTTCT	0.572000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								71	166					0	0	0.014410	0	0
FAM161A	84140	broad.mit.edu	37	2	62067514	62067514	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:62067514C>T	ENST00000404929.1	-	3	636	c.625G>A	c.(625-627)Gag>Aag	p.E209K	FAM161A_ENST00000405894.3_Missense_Mutation_p.E209K	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	209					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATATAATCCTCAACACAAAAG	0.408000													17	106					0	0	0.007413	0	0
RASSF2	9770	broad.mit.edu	37	20	4778713	4778713	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:4778713A>T	ENST00000379400.3	-	4	273	c.78T>A	c.(76-78)caT>caA	p.H26Q	RASSF2_ENST00000379376.2_Missense_Mutation_p.H26Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	26					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						AGGTCTTCAGATGCAAGAGAA	0.473000													17	40					0	0	0.012319	0	0
C15orf26	161502	broad.mit.edu	37	15	81440822	81440822	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:81440822C>G	ENST00000286732.4	+	7	937	c.854C>G	c.(853-855)cCc>cGc	p.P285R		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	285										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						CCCAAACCACCCACAGAGGAC	0.547000													9	50					0	0	0.008291	0	0
CCDC116	164592	broad.mit.edu	37	22	21988323	21988323	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:21988323A>T	ENST00000292779.3	+	3	246	c.85A>T	c.(85-87)Aag>Tag	p.K29*	CCDC116_ENST00000607942.1_Nonsense_Mutation_p.K29*	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	29										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					GCAGCTGCCCAAGAAGCCACT	0.642000													28	75					0	0	0.007291	0	0
IDI2	91734	broad.mit.edu	37	10	1066834	1066834	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:1066834T>C	ENST00000277517.1	-	4	303	c.239A>G	c.(238-240)tAt>tGt	p.Y80C		NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	80	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		GTCGGTAAAATACCCTGGAAA	0.443000													16	27					0	0	0.008871	0	0
SNTG2	54221	broad.mit.edu	37	2	1133464	1133464	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:1133464T>C	ENST00000308624.5	+	6	509	c.380T>C	c.(379-381)aTa>aCa	p.I127T	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	127	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GTTAATGGCATACATGTAGAA	0.269000													26	45					0	0	0.006320	0	0
CNTN6	27255	broad.mit.edu	37	3	1445006	1445006	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:1445006G>C	ENST00000446702.2	+	23	3618	c.2991G>C	c.(2989-2991)ttG>ttC	p.L997F	CNTN6_ENST00000539053.1_Missense_Mutation_p.L925F|CNTN6_ENST00000350110.2_Missense_Mutation_p.L997F			Q9UQ52	CNTN6_HUMAN	contactin 6	997					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTGCAGGTTTGAGTTCCAGAG	0.303000													12	40					0	0	0.010729	0	0
MIR320A	407037	broad.mit.edu	37	8	22102504	22102504	+	RNA	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:22102504G>C	ENST00000385302.1	-	0	52					NR_029714.1																						TCTCAACCCAGCTTTTCCCGA	0.647000													3	73					0	0	0.009096	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478337	14478337	+	RNA	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:14478337T>C	ENST00000581457.1	-	0	1571					NR_024076.1																						TATCCCTCCATGTTGGAAGGA	0.512000													9	16					0	0	0.004482	0	0
FBXO36	130888	broad.mit.edu	37	2	230787323	230787323	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:230787323C>G	ENST00000283946.3	+	1	112	c.94C>G	c.(94-96)Cag>Gag	p.Q32E	FBXO36_ENST00000373652.3_5'UTR|FBXO36_ENST00000409992.1_Missense_Mutation_p.Q32E	NM_174899.4	NP_777559.3	Q8NEA4	FBX36_HUMAN	F-box protein 36	32										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CACCCGGTCTCAGGCAAGTGC	0.612000													12	34					0	0	0.010729	0	0
OTUD5	55593	broad.mit.edu	37	X	48780496	48780496	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:48780496C>T	ENST00000156084.4	-	9	1731	c.1671G>A	c.(1669-1671)atG>atA	p.M557I	OTUD5_ENST00000428668.2_Missense_Mutation_p.M335I|OTUD5_ENST00000396743.3_Missense_Mutation_p.M552I|OTUD5_ENST00000376488.3_Missense_Mutation_p.M552I	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	557					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TGTTTTTCTTCATACTGTCTA	0.532000													33	26					0	0	0.003271	0	0
TRIM60	166655	broad.mit.edu	37	4	165961621	165961621	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:165961621A>G	ENST00000512596.1	+	3	613	c.397A>G	c.(397-399)Att>Gtt	p.I133V	TRIM60_ENST00000341062.5_Missense_Mutation_p.I133V|TRIM60_ENST00000508504.1_Missense_Mutation_p.I133V	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	133						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		CATTTGCCCTATTAAGAAAGC	0.398000													11	26					0	0	0.010729	0	0
RAD9A	5883	broad.mit.edu	37	11	67161232	67161232	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:67161232G>A	ENST00000307980.2	+	5	513	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	140					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			ACCCAGCCTCGTGCCCCCACA	0.652000								Other conserved DNA damage response genes					5	9					0	0	0.000602	0	0
PLK3	1263	broad.mit.edu	37	1	45268645	45268645	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:45268645G>A	ENST00000372201.4	+	7	1007	c.768G>A	c.(766-768)ggG>ggA	p.G256G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	256	Protein kinase.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					TGCTCTGCGGGAGCCCTCCCT	0.622000													18	77					0	0	0.010504	0	0
FARP1	10160	broad.mit.edu	37	13	99083317	99083317	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:99083317G>A	ENST00000376586.2	+	18	2262	c.1926G>A	c.(1924-1926)tgG>tgA	p.W642*	FARP1_ENST00000319562.6_Nonsense_Mutation_p.W642*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.W642*			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	642	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.W642*(1)		breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CTCACCTGTGGAAGCACAGCG	0.577000													11	46					0	0	0.010729	0	0
TMEM80	283232	broad.mit.edu	37	11	703012	703012	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:703012C>T	ENST00000608174.1	+	5	506	c.369C>T	c.(367-369)acC>acT	p.T123T	TMEM80_ENST00000397512.3_Silent_p.T115T|TMEM80_ENST00000397510.3_Silent_p.T171T|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80							integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGCTGGCACCGCCCTCCTCT	0.692000													12	46					0	0	0.013537	0	0
SLC2A2	6514	broad.mit.edu	37	3	170727792	170727792	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:170727792G>C	ENST00000314251.3	-	4	530	c.451C>G	c.(451-453)Cat>Gat	p.H151D	SLC2A2_ENST00000382808.4_Missense_Mutation_p.H32D	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	151					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			ATAAGTATATGAGATGGTCCC	0.388000													14	24					0	0	0.001855	0	0
MCM3AP	8888	broad.mit.edu	37	21	47704198	47704198	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:47704198C>A	ENST00000397708.1	-	2	1257	c.1003G>T	c.(1003-1005)Ggt>Tgt	p.G335C	MCM3AP_ENST00000291688.1_Missense_Mutation_p.G335C			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	335					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATAAAGTACCTCCCCGGGGT	0.522000													33	124					2.70662e-09	2.85849e-09	0.009535	1	0
ITGAM	3684	broad.mit.edu	37	16	31341893	31341893	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:31341893G>A	ENST00000544665.3	+	28	3317	c.3246G>A	c.(3244-3246)ctG>ctA	p.L1082L	ITGAM_ENST00000287497.8_Silent_p.L1081L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1081					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGTTCACCCTGCTGCCGGGAC	0.592000													7	14					0	0	0.003080	0	0
ETAA1	54465	broad.mit.edu	37	2	67630955	67630955	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:67630955G>A	ENST00000272342.5	+	5	1271	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	381						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TGATTTTGAGGATGATTGGGA	0.363000													28	46					0	0	0.008361	0	0
KERA	11081	broad.mit.edu	37	12	91449642	91449642	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:91449642T>C	ENST00000266719.3	-	2	664	c.417A>G	c.(415-417)ccA>ccG	p.P139P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	139					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTCTTGGCAATGGAGAAGGTA	0.413000													25	84					0	0	0.003330	0	0
USP10	9100	broad.mit.edu	37	16	84778354	84778354	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:84778354A>G	ENST00000219473.7	+	4	380	c.267A>G	c.(265-267)gaA>gaG	p.E89E	USP10_ENST00000570191.1_Silent_p.E93E|USP10_ENST00000562743.1_3'UTR	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	89	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGGCCCCTGAATTTATTCTCG	0.493000													31	47					0	0	0.013726	0	0
DNM3	26052	broad.mit.edu	37	1	172357752	172357752	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:172357752A>G	ENST00000358155.4	+	20	2501	c.2325A>G	c.(2323-2325)acA>acG	p.T775T	DNM3_ENST00000355305.5_Silent_p.T781T|DNM3_ENST00000367731.1_Silent_p.T771T	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	781					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GGAGGCCAACACTAAGTGCTC	0.562000													15	45					0	0	0.004990	0	0
MIPOL1	145282	broad.mit.edu	37	14	37739687	37739687	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:37739687C>T	ENST00000327441.7	+	7	916	c.450C>T	c.(448-450)ctC>ctT	p.L150L	MIPOL1_ENST00000539174.2_3'UTR|MIPOL1_ENST00000556451.1_Silent_p.L119L|MIPOL1_ENST00000545536.1_Silent_p.L119L|MIPOL1_ENST00000396294.2_Silent_p.L150L|MIPOL1_ENST00000539062.2_Silent_p.L119L|MIPOL1_ENST00000537471.1_Silent_p.L150L|MIPOL1_ENST00000536774.1_Intron	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	150										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGCTGGAACTCCAAGAGAAAG	0.333000													8	15					0	0	0.004482	0	0
PAX6	5080	broad.mit.edu	37	11	31823446	31823446	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:31823446T>A	ENST00000419022.1	-	6	624	c.156A>T	c.(154-156)gcA>gcT	p.A52A	PAX6_ENST00000379111.2_Intron|PAX6_ENST00000241001.8_Intron|PAX6_ENST00000379132.3_Intron|PAX6_ENST00000379107.2_Silent_p.A52A|PAX6_ENST00000379123.5_Intron|PAX6_ENST00000379129.2_Silent_p.A52A|PAX6_ENST00000533156.1_5'UTR|PAX6_ENST00000379115.4_Silent_p.A52A	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	47	Paired.		C -> R (in AN; shows almost no binding efficiency; transcriptional activation ability is about 50% lower than that of the wild-type protein).		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)					CTTGGACTTTTGCATCTGCAT	0.294000									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				8	19					0	0	0.003080	0	0
RBM6	10180	broad.mit.edu	37	3	50012766	50012766	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:50012766C>T	ENST00000443081.1	+	5	1947	c.1028C>T	c.(1027-1029)gCt>gTt	p.A343V	RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.A475V|RBM6_ENST00000422955.1_5'UTR			P78332	RBM6_HUMAN	RNA binding motif protein 6	475					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ATTCTTAATGCTTTTCGGACT	0.358000													22	59					0	0	0.014323	0	0
C2orf61	285051	broad.mit.edu	37	2	47378469	47378469	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:47378469C>T	ENST00000294947.2	-	3	362	c.327G>A	c.(325-327)aaG>aaA	p.K109K	C2orf61_ENST00000445927.2_Silent_p.K109K|RP11-761B3.1_ENST00000422269.1_3'UTR	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	109								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCACTTGCTTCTTTAACAGGT	0.453000													32	72					0	0	0.012213	0	0
UBE3B	89910	broad.mit.edu	37	12	109940962	109940962	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:109940962A>G	ENST00000342494.3	+	14	2012	c.1417A>G	c.(1417-1419)Act>Gct	p.T473A	UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000434735.2_Missense_Mutation_p.T473A|UBE3B_ENST00000280774.5_Missense_Mutation_p.T473A	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	473					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CTCGCTGACAACTCTCACACA	0.517000													12	39					0	0	0.013537	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276256	185276256	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:185276256C>T	ENST00000367498.3	-	7	1169	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K	IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	183	BACK.|Sufficient for AHR interaction and signaling.				interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						ACATTATCTTCAAGCATTACC	0.413000													14	29					0	0	0.002450	0	0
ABI1	10006	broad.mit.edu	37	10	27149698	27149698	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:27149698T>C	ENST00000355394.4	-	1	318	c.95A>G	c.(94-96)tAc>tGc	p.Y32C	ABI1_ENST00000376139.2_Missense_Mutation_p.Y32C|ABI1_ENST00000346832.5_Missense_Mutation_p.Y32C|ABI1_ENST00000376142.2_Missense_Mutation_p.Y32C|ABI1_ENST00000376137.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376170.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376166.1_Missense_Mutation_p.Y32C|ABI1_ENST00000490841.2_Missense_Mutation_p.Y32C|ABI1_ENST00000376160.1_Missense_Mutation_p.Y32C|ABI1_ENST00000376138.3_Missense_Mutation_p.Y32C|ABI1_ENST00000359188.4_Missense_Mutation_p.Y32C|ABI1_ENST00000376134.3_Missense_Mutation_p.Y32C|ABI1_ENST00000376140.3_Missense_Mutation_p.Y32C|ABI1_ENST00000536334.1_Missense_Mutation_p.Y32C			Q8IZP0	ABI1_HUMAN	abl-interactor 1	32	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTTTCACAGTAGTCTGCCAC	0.627000													24	62					0	0	0.003954	0	0
CHD1	1105	broad.mit.edu	37	5	98232937	98232937	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:98232937G>A	ENST00000284049.3	-	10	1602	c.1453C>T	c.(1453-1455)Caa>Taa	p.Q485*		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	485					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CCATTCAGTTGATAATCTCTT	0.343000													19	49					0	0	0.007413	0	0
ARID4B	51742	broad.mit.edu	37	1	235338665	235338665	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:235338665C>G	ENST00000264183.3	-	22	3995	c.3498G>C	c.(3496-3498)aaG>aaC	p.K1166N	ARID4B_ENST00000349213.3_Missense_Mutation_p.K1080N|ARID4B_ENST00000366603.2_Missense_Mutation_p.K1166N	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CTGGCTGACTCTTAGTTATAC	0.358000													26	57					0	0	0.005443	0	0
IL4R	3566	broad.mit.edu	37	16	27373925	27373925	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:27373925G>A	ENST00000395762.2	+	11	1511	c.1252G>A	c.(1252-1254)Gag>Aag	p.E418K	IL4R_ENST00000543915.2_Missense_Mutation_p.E418K|IL4R_ENST00000380922.3_Missense_Mutation_p.E403K|IL4R_ENST00000170630.2_Missense_Mutation_p.E418K	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	418					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCTCGGAGAGGAGAATGGGGG	0.597000													10	50					0	0	0.010729	0	0
GBP7	388646	broad.mit.edu	37	1	89615138	89615138	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:89615138G>A	ENST00000294671.2	-	7	1127	c.989C>T	c.(988-990)gCa>gTa	p.A330V		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	330						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		GTGGTTGGCTGCCCTCTGCAC	0.577000													48	43					0	0	0.014410	0	0
RPL26L1	51121	broad.mit.edu	37	5	172386963	172386963	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:172386963C>T	ENST00000521476.1	+	2	211	c.87C>T	c.(85-87)atC>atT	p.I29I	RPL26L1_ENST00000519974.1_Silent_p.I29I|RPL26L1_ENST00000265100.2_Silent_p.I29I|RPL26L1_ENST00000519239.1_Silent_p.I29I			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGGAAGATCATGTCATCCC	0.577000													31	87					0	0	0.003271	0	0
LGR4	55366	broad.mit.edu	37	11	27389570	27389570	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:27389570G>A	ENST00000379214.4	-	18	3143	c.2700C>T	c.(2698-2700)ggC>ggT	p.G900G	LGR4_ENST00000389858.4_Silent_p.G876G	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	900						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CCGACTGTGTGCCACAGTCGG	0.512000													24	44					0	0	0.014323	0	0
SPEN	23013	broad.mit.edu	37	1	16265921	16265921	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:16265921G>A	ENST00000375759.3	+	15	11198	c.10994G>A	c.(10993-10995)tGa>tAa	p.*3665*		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	0					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCCTCCGTGTGAGCCACTGAG	0.552000													73	124					0	0	0.014410	0	0
RNF216	54476	broad.mit.edu	37	7	5760771	5760771	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:5760771G>A	ENST00000425013.2	-	9	1590	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	RNF216_ENST00000389902.3_Missense_Mutation_p.L513F	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	456					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TTATTTTCAAGAAAGAACATC	0.428000													23	49					0	0	0.002780	0	0
CCDC34	91057	broad.mit.edu	37	11	27360567	27360567	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:27360567T>C	ENST00000328697.6	-	6	1596	c.923A>G	c.(922-924)aAt>aGt	p.N308S	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	308										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TGGATAGGAATTTCCACTGTA	0.338000													8	37					0	0	0.003080	0	0
ACPP	55	broad.mit.edu	37	3	132071660	132071660	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:132071660G>A	ENST00000336375.5	+	9	1051	c.961G>A	c.(961-963)Gag>Aag	p.E321K	ACPP_ENST00000351273.7_Missense_Mutation_p.E321K|ACPP_ENST00000475741.1_Missense_Mutation_p.E288K	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	321						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						ATTGTACTTTGAGAAGGGGTA	0.433000													14	29					0	0	0.001855	0	0
MEOX1	4222	broad.mit.edu	37	17	41719371	41719371	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:41719371C>G	ENST00000318579.4	-	3	1091	c.672G>C	c.(670-672)atG>atC	p.M224I	MEOX1_ENST00000549132.1_Missense_Mutation_p.M137I|MEOX1_ENST00000329168.3_Missense_Mutation_p.E167Q|MEOX1_ENST00000393661.2_Missense_Mutation_p.M109I	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	224						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		GCTTCCACTTCATCCTTCGGT	0.582000													28	119					0	0	0.012213	0	0
C1R	715	broad.mit.edu	37	12	7244200	7244200	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:7244200C>T	ENST00000542285.1	-	2	225	c.76G>A	c.(76-78)Ggg>Agg	p.G26R				P00736	C1R_HUMAN	complement component 1, r subcomponent	27	CUB 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTCACCTCCCCAAATAACTTC	0.537000													4	3					0	0	0.009096	0	0
FAM166A	401565	broad.mit.edu	37	9	140139108	140139108	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:140139108A>G	ENST00000344774.4	-	5	787	c.733T>C	c.(733-735)Ttc>Ctc	p.F245L		NM_001001710.1	NP_001001710.1	Q6J272	F166A_HUMAN	family with sequence similarity 166, member A	245										kidney(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(2)	15						CTCTTGTCGAATTCGTCCATG	0.577000													24	18					0	0	0.005443	0	0
FRAS1	80144	broad.mit.edu	37	4	79430151	79430151	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:79430151C>T	ENST00000264895.6	+	63	10211	c.9771C>T	c.(9769-9771)gtC>gtT	p.V3257V		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3252					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCACCAGTGTCAACCACATGG	0.532000													12	48					0	0	0.001855	0	0
C21orf59	56683	broad.mit.edu	37	21	33979964	33979964	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:33979964A>G	ENST00000382549.4	-	3	712	c.370T>C	c.(370-372)Tct>Cct	p.S124P	AP000275.65_ENST00000553001.1_Missense_Mutation_p.S124P|C21orf59_ENST00000540881.1_Missense_Mutation_p.S68P|C21orf59_ENST00000290155.3_Missense_Mutation_p.S124P			P57076	CU059_HUMAN	chromosome 21 open reading frame 59	124						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CCAACCTTAGATATTATTGCT	0.348000													15	40					0	0	0.002450	0	0
FAM63A	55793	broad.mit.edu	37	1	150972380	150972380	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:150972380T>C	ENST00000361936.5	-	7	1750	c.796A>G	c.(796-798)Atc>Gtc	p.I266V	FAM63A_ENST00000312210.5_Missense_Mutation_p.I124V|FAM63A_ENST00000361738.6_Missense_Mutation_p.I314V|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Missense_Mutation_p.I171V	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	266							protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTGCAGGTGATGATCCTCTCC	0.507000													20	59					0	0	0.010504	0	0
KL	9365	broad.mit.edu	37	13	33635170	33635170	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:33635170G>A	ENST00000380099.3	+	4	1962	c.1954G>A	c.(1954-1956)Gcc>Acc	p.A652T	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	652	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCGCCTCCTGGCCAGGCAGGG	0.627000													12	61					0	0	0.013537	0	0
GPKOW	27238	broad.mit.edu	37	X	48973498	48973498	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:48973498C>T	ENST00000156109.5	-	6	877	c.799G>A	c.(799-801)Gac>Aac	p.D267N		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	267	KOW 1.					nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CGAACATTGTCAGGATCAAGG	0.547000													36	23					0	0	0.004878	0	0
PRSS53	339105	broad.mit.edu	37	16	31098143	31098143	+	Missense_Mutation	SNP	C	C	T	rs138969193	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:31098143C>T	ENST00000280606.6	-	4	472	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	107	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CCCACCTCTTCGGCCCCAGGG	0.642000													11	56					0	0	0.008291	0	0
CD101	9398	broad.mit.edu	37	1	117556087	117556087	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:117556087G>A	ENST00000256652.4	+	4	959	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	CD101_ENST00000369470.1_Missense_Mutation_p.E301K	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	301	Ig-like C2-type 3.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GAAACCCTTAGAACTGGTTTG	0.463000													15	94					0	0	0.003163	0	0
F12	2161	broad.mit.edu	37	5	176831015	176831015	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:176831015C>T	ENST00000253496.3	-	10	1143	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	365					Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGACAGACTCTTGCGGAGCC	0.701000									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	31					0	0	0.008291	0	0
OR6C65	403282	broad.mit.edu	37	12	55794973	55794973	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:55794973A>G	ENST00000379665.2	+	1	760	c.661A>G	c.(661-663)Aaa>Gaa	p.K221E		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						ACTCATCCTTAAAACAATTCT	0.418000													36	93					0	0	0.004878	0	0
LDB1	8861	broad.mit.edu	37	10	103868023	103868023	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:103868023C>T	ENST00000361198.5	-	11	1578	c.955G>A	c.(955-957)Gag>Aag	p.E319K	LDB1_ENST00000425280.1_Missense_Mutation_p.E355K	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	355					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		ATGAGCCTCTCGTCCTCGTCC	0.622000													12	45					0	0	0.001855	0	0
CUL4A	8451	broad.mit.edu	37	13	113893835	113893835	+	Silent	SNP	G	G	T	rs138821614	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:113893835G>T	ENST00000451881.1	+	10	954	c.705G>T	c.(703-705)gcG>gcT	p.A235A	CUL4A_ENST00000375441.3_Silent_p.A235A|CUL4A_ENST00000375440.4_Silent_p.A335A|CUL4A_ENST00000326335.4_Silent_p.A235A	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	335					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GGCAGCAGGCGCTGCTGCAGC	0.637000													20	74					1.96895e-08	2.06654e-08	0.002780	1	0
PADI1	29943	broad.mit.edu	37	1	17565174	17565174	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:17565174G>A	ENST00000375471.4	+	13	1614	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	PADI1_ENST00000413717.2_Missense_Mutation_p.E65K|PADI1_ENST00000537499.1_Missense_Mutation_p.E65K|PADI1_ENST00000536552.1_5'UTR	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	508					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GAAGAAAGAAGAGGGTTATGG	0.607000													4	9					0	0	0.000602	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486457	133486457	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:133486457C>G	ENST00000409261.1	-	18	5885	c.5512G>C	c.(5512-5514)Gct>Cct	p.A1838P	NCKAP5_ENST00000405974.3_Missense_Mutation_p.A519P|NCKAP5_ENST00000317721.6_Missense_Mutation_p.A1838P|NCKAP5_ENST00000409213.1_Missense_Mutation_p.A519P	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1838							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGGTCTTCAGCATATCCGAAT	0.537000													43	205					0	0	0.009718	0	0
CHD7	55636	broad.mit.edu	37	8	61655515	61655515	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:61655515T>C	ENST00000423902.2	+	2	2003	c.1524T>C	c.(1522-1524)ttT>ttC	p.F508F	CHD7_ENST00000525508.1_Silent_p.F508F|CHD7_ENST00000524602.1_Silent_p.F508F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	508	Pro-rich.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGCCATCTTTTCAGCAGTTGC	0.572000													3	17					0	0	0.009096	0	0
ARMC1	55156	broad.mit.edu	37	8	66517678	66517678	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:66517678G>A	ENST00000276569.3	-	5	805	c.561C>T	c.(559-561)atC>atT	p.I187I	ARMC1_ENST00000458464.2_Silent_p.I85I	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	187					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AATCTGAACGGATTCGCACCA	0.333000													23	33					0	0	0.006320	0	0
AJAP1	55966	broad.mit.edu	37	1	4832502	4832502	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:4832502C>T	ENST00000378191.4	+	4	1461	c.1080C>T	c.(1078-1080)tgC>tgT	p.C360C	AJAP1_ENST00000378190.3_Silent_p.C360C	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	360	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTCACGAGTGCGTCAGGGCAT	0.592000													9	32					0	0	0.006214	0	0
MED11	400569	broad.mit.edu	37	17	4635097	4635097	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:4635097G>A	ENST00000293777.5	+	2	168	c.112G>A	c.(112-114)Gaa>Aaa	p.E38K	MED11_ENST00000573708.1_Missense_Mutation_p.E38K|RP11-314A20.5_ENST00000570493.2_RNA|MED11_ENST00000575284.1_Missense_Mutation_p.E38K	NM_001001683.2	NP_001001683.1	Q9P086	MED11_HUMAN	mediator complex subunit 11	38					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(2)	4						ATTGTCCAAGGAAAAAACTAA	0.617000											OREG0024104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	0.002450	0	0
PSIP1	11168	broad.mit.edu	37	9	15469043	15469043	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:15469043C>A	ENST00000380733.4	-	13	1461	c.1118G>T	c.(1117-1119)tGc>tTc	p.C373F	PSIP1_ENST00000380738.4_Missense_Mutation_p.C373F			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	373					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGCCTCAATGCATCTGTTCAC	0.343000													18	11					1.33834e-09	1.4152e-09	0.007413	1	0
VPS8	23355	broad.mit.edu	37	3	184612519	184612519	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:184612519A>G	ENST00000287546.4	+	22	1981	c.1810A>G	c.(1810-1812)Aaa>Gaa	p.K604E	VPS8_ENST00000437079.3_Missense_Mutation_p.K604E|VPS8_ENST00000446204.2_Intron|VPS8_ENST00000436792.2_Missense_Mutation_p.K602E	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	604							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GATGTATGATAAATTAAGTGA	0.353000													3	14					0	0	0.009096	0	0
PLXNA4	91584	broad.mit.edu	37	7	131853207	131853207	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:131853207C>T	ENST00000359827.3	-	22	5104	c.4142G>A	c.(4141-4143)cGc>cAc	p.R1381H	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1381H			Q9HCM2	PLXA4_HUMAN	plexin A4	1381						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCCACGGTCGCGCATGGAGAA	0.582000													6	43					0	0	0.004482	0	0
CASKIN1	57524	broad.mit.edu	37	16	2236758	2236758	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:2236758C>A	ENST00000343516.6	-	10	1090	c.998G>T	c.(997-999)cGg>cTg	p.R333L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	333	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTAGCCCACCCGGTCATTGCC	0.677000													19	14					6.94344e-10	7.36979e-10	0.006122	1	0
LUC7L	55692	broad.mit.edu	37	16	239316	239316	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:239316T>C	ENST00000293872.8	-	10	1107	c.997A>G	c.(997-999)Aga>Gga	p.R333G	LUC7L_ENST00000337351.4_3'UTR|LUC7L_ENST00000397783.1_3'UTR	NM_201412.1	NP_958815.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	333	Arg/Ser-rich.						metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				GACTCCTCTCTGGATGCCCGC	0.647000													50	30					0	0	0.014410	0	0
THAP10	56906	broad.mit.edu	37	15	71184460	71184460	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:71184460G>C	ENST00000249861.4	-	1	664	c.152C>G	c.(151-153)tCg>tGg	p.S51W	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	51							DNA binding|metal ion binding			NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GCAGATGACCGAGCGGTCATT	0.637000													6	31					0	0	0.003080	0	0
KATNAL2	83473	broad.mit.edu	37	18	44595908	44595908	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:44595908C>T	ENST00000245121.5	+	10	923	c.729C>T	c.(727-729)ttC>ttT	p.F243F	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Silent_p.F315F	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	315						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AAACAACCTTCTTTAACATTT	0.378000													16	49					0	0	0.004007	0	0
ACKR4	51554	broad.mit.edu	37	3	132319410	132319410	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:132319410G>A	ENST00000249887.2	+	2	265	c.169G>A	c.(169-171)Gca>Aca	p.A57T	ACAD11_ENST00000355458.3_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000264990.6_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4																		CATTGGACTTGCAGGCAATTC	0.383000													20	23					0	0	0.003954	0	0
SF3B4	10262	broad.mit.edu	37	1	149897916	149897916	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:149897916G>A	ENST00000271628.8	-	4	1309	c.725C>T	c.(724-726)tCc>tTc	p.S242F		NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	242						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGGTGGGAAGGAGCCAGGAGG	0.582000													15	24					0	0	0.004990	0	0
DENND5A	23258	broad.mit.edu	37	11	9161320	9161320	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:9161320G>A	ENST00000328194.3	-	23	4082	c.3762C>T	c.(3760-3762)atC>atT	p.I1254I	DENND5A_ENST00000527700.1_Silent_p.I597I|DENND5A_ENST00000530044.1_3'UTR	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1254	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TATGGTCTTTGATCAGTGCCA	0.527000													9	25					0	0	0.004482	0	0
NAPB	63908	broad.mit.edu	37	20	23375803	23375803	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:23375803A>G	ENST00000377026.4	-	4	400	c.315T>C	c.(313-315)aaT>aaC	p.N105N	NAPB_ENST00000398425.3_Intron|NAPB_ENST00000472855.1_Intron|NAPB_ENST00000432543.2_Silent_p.N66N	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	105					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CGATGGCTGCATTTAAGCAGT	0.428000													12	17					0	0	0.001855	0	0
FNIP2	57600	broad.mit.edu	37	4	159747136	159747136	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:159747136G>A	ENST00000264433.6	+	2	251	c.176G>A	c.(175-177)gGc>gAc	p.G59D	FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Missense_Mutation_p.G82D	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	59					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GACAGGAGAGGCAGACAAGTC	0.413000													36	81					0	0	0.003755	0	0
AMELX	265	broad.mit.edu	37	X	11316858	11316858	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:11316858T>C	ENST00000380712.3	+	6	445	c.377T>C	c.(376-378)aTc>aCc	p.I126T	ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.I112T|AMELX_ENST00000348912.4_Missense_Mutation_p.I96T	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	112					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						ATGACTCCAATCCAACACCAC	0.642000													65	39					0	0	0.014410	0	0
SYT1	6857	broad.mit.edu	37	12	79689917	79689917	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:79689917C>G	ENST00000261205.4	+	7	1200	c.543C>G	c.(541-543)taC>taG	p.Y181*	SYT1_ENST00000552744.1_Nonsense_Mutation_p.Y181*|SYT1_ENST00000393240.3_Nonsense_Mutation_p.Y181*|SYT1_ENST00000457153.2_Nonsense_Mutation_p.Y178*	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	181	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	p.Y181*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGATCCTTACGTGAAAGTGT	0.433000													31	40					0	0	0.010818	0	0
NPAP1	23742	broad.mit.edu	37	15	24922847	24922847	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:24922847G>A	ENST00000329468.2	+	1	2307	c.1833G>A	c.(1831-1833)caG>caA	p.Q611Q		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGCAGAGCAGAGGCACCCGG	0.463000													12	49					0	0	0.013537	0	0
TRIP11	9321	broad.mit.edu	37	14	92466417	92466417	+	Silent	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:92466417T>A	ENST00000267622.4	-	12	4966	c.4593A>T	c.(4591-4593)gcA>gcT	p.A1531A		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1531					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGATTTAACTGCATTTAAAA	0.353000			T	PDGFRB	AML								7	25					0	0	0.003080	0	0
FSTL5	56884	broad.mit.edu	37	4	162697045	162697045	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:162697045A>C	ENST00000306100.5	-	5	1027	c.591T>G	c.(589-591)atT>atG	p.I197M	FSTL5_ENST00000536695.1_Missense_Mutation_p.I196M|FSTL5_ENST00000427802.2_Missense_Mutation_p.I196M|FSTL5_ENST00000379164.4_Missense_Mutation_p.I196M	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	197	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTAGTTCATTAATATCTACAA	0.289000													4	27					0	0	0.000602	0	0
TSTD2	158427	broad.mit.edu	37	9	100388271	100388271	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:100388271G>T	ENST00000341170.4	-	3	556	c.174C>A	c.(172-174)gcC>gcA	p.A58A	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	58										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						TGACAAAAAGGGCAAAGGCCT	0.353000													6	6					5.9392e-07	6.20284e-07	0.001168	1	0
OBSCN	84033	broad.mit.edu	37	1	228467915	228467915	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:228467915G>A	ENST00000570156.2	+	34	9060	c.8986G>A	c.(8986-8988)Gca>Aca	p.A2996T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A2567T|OBSCN_ENST00000359599.6_Missense_Mutation_p.A1414T|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A2567T|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1997	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTACAGGATGCAGAGGCCAC	0.632000													11	60					0	0	0.013537	0	0
VARS2	57176	broad.mit.edu	37	6	30884903	30884903	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:30884903G>A	ENST00000321897.5	+	8	1407	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	VARS2_ENST00000416670.2_Missense_Mutation_p.E259K|VARS2_ENST00000541562.1_Missense_Mutation_p.E289K|VARS2_ENST00000542001.1_Missense_Mutation_p.E119K			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	259					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGCTGTGACTGAAGCTTTTGT	0.547000													43	37					0	0	0.011902	0	0
CPB2	1361	broad.mit.edu	37	13	46661885	46661885	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:46661885A>G	ENST00000181383.4	-	2	161	c.145T>C	c.(145-147)Tat>Cat	p.Y49H	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.Y49H|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	49					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		ATTACCTCATATGTTGTAGTA	0.373000													42	56					0	0	0.014410	0	0
RBP3	5949	broad.mit.edu	37	10	48389782	48389782	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:48389782C>T	ENST00000224600.4	-	1	1209	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	366	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACCAGATCTTCCTCGGAGACC	0.627000													15	31					0	0	0.002450	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003938	34003938	+	Silent	SNP	T	T	C	rs61750219		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:34003938T>C	ENST00000382491.3	-	28	4072	c.3948A>G	c.(3946-3948)caA>caG	p.Q1316Q	SYNJ1_ENST00000357345.3_3'UTR|SYNJ1_ENST00000322229.7_Silent_p.Q1363Q|SYNJ1_ENST00000433931.2_Silent_p.Q1402Q|SYNJ1_ENST00000382499.2_3'UTR	NM_001160306.1	NP_001153778.1	O43426	SYNJ1_HUMAN	synaptojanin 1	1363	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						AAACATTACTTTGCGTTGCAG	0.448000													28	29					0	0	0.013726	0	0
TNPO2	30000	broad.mit.edu	37	19	12825962	12825962	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:12825962C>T	ENST00000425528.1	-	9	1027	c.670G>A	c.(670-672)Gat>Aat	p.D224N	TNPO2_ENST00000592287.1_Missense_Mutation_p.D224N|TNPO2_ENST00000588216.1_Missense_Mutation_p.D224N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D224N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D224N|TNPO2_ENST00000356861.5_Missense_Mutation_p.D224N|TNPO2_ENST00000589956.1_Intron			O14787	TNPO2_HUMAN	transportin 2	224					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGTCATCATCCACAGCCAGG	0.622000													18	27					0	0	0.002780	0	0
HNRNPR	10236	broad.mit.edu	37	1	23637803	23637803	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:23637803T>C	ENST00000478691.1	-	9	1157	c.886A>G	c.(886-888)Atg>Gtg	p.M296V	HNRNPR_ENST00000606561.1_Missense_Mutation_p.M255V|HNRNPR_ENST00000426846.2_Missense_Mutation_p.M234V|HNRNPR_ENST00000427764.2_Missense_Mutation_p.M356V|HNRNPR_ENST00000476660.1_5'UTR|HNRNPR_ENST00000374612.1_Missense_Mutation_p.M394V|HNRNPR_ENST00000302271.6_Missense_Mutation_p.M394V|HNRNPR_ENST00000374616.3_Missense_Mutation_p.M397V	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	394	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTGCCATTCATTTCATCCATA	0.328000													3	23					0	0	0.004672	0	0
FGFR2	2263	broad.mit.edu	37	10	123258016	123258016	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:123258016T>C	ENST00000358487.5	-	12	1937	c.1665A>G	c.(1663-1665)acA>acG	p.T555T	FGFR2_ENST00000369056.1_Silent_p.T556T|FGFR2_ENST00000478859.1_Silent_p.T327T|FGFR2_ENST00000457416.2_Silent_p.T556T|FGFR2_ENST00000360144.3_Silent_p.T467T|FGFR2_ENST00000369061.4_Silent_p.T443T|FGFR2_ENST00000356226.4_Silent_p.T438T|FGFR2_ENST00000351936.6_Silent_p.T553T|FGFR2_ENST00000369060.4_Silent_p.T439T|FGFR2_ENST00000357555.5_Silent_p.T466T|FGFR2_ENST00000369059.1_Silent_p.T441T|FGFR2_ENST00000346997.2_Silent_p.T553T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	555	Protein kinase.				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)	CACCATCCTGTGTGCAGGCTC	0.438000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				5	43					0	0	0.000602	0	0
NPEPPS	9520	broad.mit.edu	37	17	45689897	45689897	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:45689897G>A	ENST00000322157.4	+	18	2404	c.2167G>A	c.(2167-2169)Gaa>Aaa	p.E723K	RP11-580I16.2_ENST00000582066.1_RNA|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000544660.1_Missense_Mutation_p.E643K|NPEPPS_ENST00000530173.1_Missense_Mutation_p.E719K	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	723					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GGCAACGTTAGAAGAAGCCCG	0.458000													16	55					0	0	0.004990	0	0
NMUR2	56923	broad.mit.edu	37	5	151784387	151784387	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:151784387G>T	ENST00000255262.3	-	1	453	c.288C>A	c.(286-288)ctC>ctA	p.L96L	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	96					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCATTCCAAGGAGCAGGACCA	0.577000													33	65					1.90571e-15	2.04321e-15	0.004289	1	0
SAMD13	148418	broad.mit.edu	37	1	84791366	84791366	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:84791366A>G	ENST00000370673.3	+	3	334	c.142A>G	c.(142-144)Atg>Gtg	p.M48V	SAMD13_ENST00000370668.3_Missense_Mutation_p.M34V|SAMD13_ENST00000370671.3_Missense_Mutation_p.M54V|SAMD13_ENST00000394834.3_Missense_Mutation_p.M34V|SAMD13_ENST00000370669.1_Missense_Mutation_p.M34V|SAMD13_ENST00000370670.2_Missense_Mutation_p.M34V	NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	54										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CTGGGCCGTGATGGATGTCGT	0.488000													27	39					0	0	0.004656	0	0
TLX3	30012	broad.mit.edu	37	5	170736467	170736467	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:170736467C>T	ENST00000296921.5	+	1	180	c.98C>T	c.(97-99)cCc>cTc	p.P33L		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAGCGCACCCGCCCCGCGG	0.751000			T	BCL11B	T-ALL								3	12					0	0	0.004672	0	0
TRIM37	4591	broad.mit.edu	37	17	57181659	57181659	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:57181659T>C	ENST00000262294.7	-	2	377	c.118A>G	c.(118-120)Att>Gtt	p.I40V	TRIM37_ENST00000376149.3_5'UTR|TRIM37_ENST00000393066.3_Missense_Mutation_p.I40V|TRIM37_ENST00000584889.1_Missense_Mutation_p.I40V|TRIM37_ENST00000393065.2_Intron	NM_015294.3	NP_056109.1	O94972	TRI37_HUMAN	tripartite motif containing 37	40						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					CTTACCCTAATACAGCTGAAA	0.353000									Mulibrey Nanism				8	26					0	0	0.004482	0	0
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								29	24					0	0	0.007291	0	0
FRMD4A	55691	broad.mit.edu	37	10	13782239	13782239	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:13782239G>A	ENST00000357447.2	-	11	995	c.627C>T	c.(625-627)atC>atT	p.I209I	RP11-353M9.1_ENST00000449462.1_RNA|FRMD4A_ENST00000342409.2_Silent_p.I225I|FRMD4A_ENST00000358621.4_Silent_p.I194I|FRMD4A_ENST00000378503.1_Silent_p.I209I	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	209	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GAGACTCCACGATGCTCATGT	0.423000													17	56					0	0	0.004990	0	0
CLCA4	22802	broad.mit.edu	37	1	87029431	87029431	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:87029431C>T	ENST00000370563.3	+	4	578	c.536C>T	c.(535-537)tCa>tTa	p.S179L	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	179						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CGTGCTAAGTCAAAAAAAATC	0.403000													5	38					0	0	0.000602	0	0
APBB3	10307	broad.mit.edu	37	5	139938224	139938224	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:139938224G>C	ENST00000357560.4	-	13	1850	c.1407C>G	c.(1405-1407)gtC>gtG	p.V469V	APBB3_ENST00000358580.5_3'UTR|APBB3_ENST00000412920.3_Silent_p.V467V|APBB3_ENST00000354402.5_Silent_p.V476V|APBB3_ENST00000356738.2_Silent_p.V474V|APBB3_ENST00000508496.2_Silent_p.V246V	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	469						actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAAGAGAAGACACCCCGCT	0.597000													41	66					0	0	0.006999	0	0
UBQLN2	29978	broad.mit.edu	37	X	56591246	56591246	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:56591246G>A	ENST00000338222.5	+	1	1221	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	314						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGAAAATCGCGATCCACTACC	0.567000													27	20					0	0	0.005443	0	0
MTUS1	57509	broad.mit.edu	37	8	17612302	17612302	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:17612302C>T	ENST00000381869.3	-	2	1488	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	MTUS1_ENST00000519263.1_Missense_Mutation_p.E339K|MTUS1_ENST00000262102.6_Missense_Mutation_p.E339K|MTUS1_ENST00000381862.3_Missense_Mutation_p.E339K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	339						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GACACTGTCTCTCTCAGATTT	0.423000													28	42					0	0	0.004656	0	0
PPM1H	57460	broad.mit.edu	37	12	63195923	63195923	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:63195923G>A	ENST00000228705.6	-	3	729	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	143	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		AATAGTGGCAGGAAACACCCT	0.617000													3	24					0	0	0.009096	0	0
PANX2	56666	broad.mit.edu	37	22	50609337	50609337	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:50609337C>T	ENST00000395842.2	+	1	178	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	PANX2_ENST00000159647.5_Silent_p.L60L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	60					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGGCACCGTGCTGGTGCCCAT	0.731000													4	12					0	0	0.000602	0	0
OTOF	9381	broad.mit.edu	37	2	26739468	26739468	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:26739468C>G	ENST00000272371.2	-	5	454		c.e5-1		OTOF_ENST00000403946.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGGCTGGTCTGAAGGGAGG	0.602000													10	82					0	0	0.006214	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54115352	54115352	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:54115352C>T	ENST00000548263.1	-	6	705	c.657G>A	c.(655-657)ctG>ctA	p.L219L	CALCOCO1_ENST00000550804.1_Silent_p.L219L|CALCOCO1_ENST00000430117.2_Silent_p.L186L|CALCOCO1_ENST00000262059.4_Silent_p.L219L			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	219					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTGCCGGCTCAGGATGTCCC	0.537000													138	260					0	0	0.014410	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220723	20220723	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:20220723G>A	ENST00000361479.5	+	3	578	c.510G>A	c.(508-510)aaG>aaA	p.K170K	MPHOSPH8_ENST00000414242.2_Silent_p.K170K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	170	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ATCTGAAAAAGAAAAAAGCAA	0.378000													6	33					0	0	0.001984	0	0
MEIS1	4211	broad.mit.edu	37	2	66664922	66664922	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:66664922G>A	ENST00000488550.1	+	2	365	c.66G>A	c.(64-66)acG>acA	p.T22T	MEIS1_ENST00000398506.2_Silent_p.T20T|MEIS1_ENST00000272369.9_Silent_p.T22T|MEIS1_ENST00000407092.2_Silent_p.T22T|MEIS1_ENST00000560281.2_Silent_p.T22T			O00470	MEIS1_HUMAN	Meis homeobox 1	22							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCCCCTCCACGATGTATGGGG	0.602000													14	37					0	0	0.004007	0	0
PRKAA2	5563	broad.mit.edu	37	1	57161760	57161760	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:57161760G>A	ENST00000371244.4	+	6	782	c.716G>A	c.(715-717)cGt>cAt	p.R239H		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	239	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TATCTCAATCGTTCTGTCGCC	0.433000													116	132					0	0	0.014410	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37547047	37547047	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:37547047T>C	ENST00000299824.1	+	11	1631	c.1442T>C	c.(1441-1443)cTg>cCg	p.L481P	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.L439P	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	481					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGACGCTTCTGGAGCTGAAG	0.647000													31	50					0	0	0.010818	0	0
SALL4	57167	broad.mit.edu	37	20	50400861	50400861	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:50400861G>C	ENST00000217086.4	-	4	3216	c.3105C>G	c.(3103-3105)ggC>ggG	p.G1035G	SALL4_ENST00000395997.3_Silent_p.G598G|SALL4_ENST00000371539.3_Silent_p.G258G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	1035					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTTGGGAACGCCGTCAGTAG	0.517000													21	80					0	0	0.014323	0	0
SMYD1	150572	broad.mit.edu	37	2	88402598	88402598	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:88402598G>A	ENST00000419482.2	+	7	995	c.910G>A	c.(910-912)Gag>Aag	p.E304K	SMYD1_ENST00000444564.2_Missense_Mutation_p.E291K|SMYD1_ENST00000438570.1_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						AGTGGTGAAGGAGATGATACA	0.443000													25	49					0	0	0.005443	0	0
FOXA1	3169	broad.mit.edu	37	14	38061866	38061866	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:38061866C>T	ENST00000250448.2	-	2	184	c.123G>A	c.(121-123)atG>atA	p.M41I	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.M8I	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	41					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		TCATGGAGTTCATGGAGCCCA	0.597000													9	60					0	0	0.006214	0	0
FLAD1	80308	broad.mit.edu	37	1	154962650	154962650	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:154962650T>A	ENST00000405236.2	+	2	836	c.836T>A	c.(835-837)tTc>tAc	p.F279Y	FLAD1_ENST00000368432.1_Silent_p.V330V|FLAD1_ENST00000292180.3_Silent_p.V427V|FLAD1_ENST00000368433.1_Silent_p.V427V|FLAD1_ENST00000315144.10_Silent_p.V330V|FLAD1_ENST00000295530.2_Missense_Mutation_p.F111Y|FLAD1_ENST00000368428.1_5'UTR			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TACCTGATGTTCCAAACCCCC	0.532000													106	209					0	0	0.014410	0	0
SLC29A4	222962	broad.mit.edu	37	7	5338755	5338755	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:5338755G>A	ENST00000396872.3	+	8	1180	c.1019G>A	c.(1018-1020)aGa>aAa	p.R340K	SLC29A4_ENST00000297195.4_Missense_Mutation_p.R340K|SLC29A4_ENST00000406453.3_Missense_Mutation_p.R326K			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CCCACCTTCAGAGGTGAGTGC	0.721000													7	20					0	0	0.003080	0	0
TSEN54	283989	broad.mit.edu	37	17	73515107	73515107	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:73515107T>C	ENST00000333213.6	+	6	536	c.500T>C	c.(499-501)gTg>gCg	p.V167A	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	167					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGGTTATGTGGTTCGACGA	0.453000													43	72					0	0	0.014410	0	0
RICTOR	253260	broad.mit.edu	37	5	38963033	38963033	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:38963033G>C	ENST00000357387.3	-	17	1541	c.1511C>G	c.(1510-1512)aCa>aGa	p.T504R	RICTOR_ENST00000296782.5_Missense_Mutation_p.T504R	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	504					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTTCTGGTGTGTTGCAATTGC	0.368000													21	33					0	0	0.014323	0	0
RNF31	55072	broad.mit.edu	37	14	24617067	24617067	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:24617067G>A	ENST00000324103.6	+	1	480	c.160G>A	c.(160-162)Gca>Aca	p.A54T	RNF31_ENST00000559275.1_Intron|RNF31_ENST00000557878.1_Intron	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	54	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GCTGGACGCCGCACGCCTTGT	0.697000													5	11					0	0	0.001168	0	0
CRBN	51185	broad.mit.edu	37	3	3194143	3194143	+	Missense_Mutation	SNP	G	G	C	rs146272907		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:3194143G>C	ENST00000231948.4	-	10	1167	c.1145C>G	c.(1144-1146)cCt>cGt	p.P382R	CRBN_ENST00000432408.2_Missense_Mutation_p.P381R	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	382	Thalidomide-binding.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ATATTACCCAGGAAACCAGCT	0.393000													22	37					0	0	0.014323	0	0
SLIT3	6586	broad.mit.edu	37	5	168175367	168175367	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:168175367C>T	ENST00000519560.1	-	20	2629	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	SLIT3_ENST00000332966.8_Missense_Mutation_p.R737Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.R737Q	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	737	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTGCTGCATCGCACCACTGT	0.642000													36	64					0	0	0.004289	0	0
SLC11A2	4891	broad.mit.edu	37	12	51384657	51384657	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:51384657A>G	ENST00000394904.3	-	15	1632	c.1583T>C	c.(1582-1584)gTc>gCc	p.V528A	SLC11A2_ENST00000547198.1_Missense_Mutation_p.V499A|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V495A|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V499A|SLC11A2_ENST00000546743.1_Missense_Mutation_p.V420A|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V528A|SLC11A2_ENST00000262051.7_Missense_Mutation_p.V499A|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V499A	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	499					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						TAGGTCCCGGACATAAACCAC	0.478000													20	38					0	0	0.008871	0	0
MYCN	4613	broad.mit.edu	37	2	16082291	16082291	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:16082291C>T	ENST00000281043.3	+	2	402	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	35					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AAGATGACTTCTACTTCGGCG	0.647000			A		neuroblastoma								16	36					0	0	0.006122	0	0
RGS14	10636	broad.mit.edu	37	5	176798587	176798587	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:176798587G>A	ENST00000408923.3	+	14	1683	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	499	GoLoco.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGTGACATCGAAGGTACATG	0.587000													40	58					0	0	0.006230	0	0
KCNT2	343450	broad.mit.edu	37	1	196342326	196342326	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:196342326A>G	ENST00000367433.5	-	14	1448	c.1347T>C	c.(1345-1347)tgT>tgC	p.C449C	KCNT2_ENST00000451324.2_Silent_p.C60C|KCNT2_ENST00000294725.9_Silent_p.C449C|KCNT2_ENST00000609185.1_Silent_p.C449C|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.C449C	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	449	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTGGGCATATACAGTTTAAAG	0.294000													22	45					0	0	0.003954	0	0
NPBWR1	2831	broad.mit.edu	37	8	53853103	53853103	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:53853103C>T	ENST00000331251.3	+	1	2113	c.636C>T	c.(634-636)ttC>ttT	p.F212F		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	212					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGCTGGGCTTCGCCATCCCCG	0.682000													7	10					0	0	0.001984	0	0
F2R	2149	broad.mit.edu	37	5	76028967	76028967	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:76028967G>T	ENST00000319211.4	+	2	1182	c.917G>T	c.(916-918)aGc>aTc	p.S306I		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	306					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	GCCAACCGCAGCAAGAAGTCC	0.488000													28	31					1.17739e-12	1.25916e-12	0.005443	1	0
CEP290	80184	broad.mit.edu	37	12	88482816	88482816	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:88482816G>C	ENST00000552810.1	-	31	4365	c.4022C>G	c.(4021-4023)gCc>gGc	p.A1341G	CEP290_ENST00000397838.3_Missense_Mutation_p.A401G|CEP290_ENST00000309041.7_Missense_Mutation_p.A1343G|CEP290_ENST00000547691.2_Missense_Mutation_p.A401G	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1341					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TACCTTTTGGGCTCCTTTGGT	0.358000													16	29					0	0	0.004990	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212781	21212781	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:21212781A>G	ENST00000602326.1	-	17	2770	c.2187T>C	c.(2185-2187)gaT>gaC	p.D729D	EIF4G3_ENST00000264211.8_Silent_p.D723D|EIF4G3_ENST00000536266.1_Silent_p.D327D|EIF4G3_ENST00000374937.3_Silent_p.D729D|EIF4G3_ENST00000400422.1_Silent_p.D723D|EIF4G3_ENST00000374935.3_Silent_p.D443D|EIF4G3_ENST00000537738.1_Silent_p.D213D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	723	eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCAGGTGTACATCTTCTTTTA	0.423000													34	139					0	0	0.012213	0	0
DMXL2	23312	broad.mit.edu	37	15	51791720	51791720	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:51791720C>G	ENST00000251076.5	-	18	3988	c.3701G>C	c.(3700-3702)aGa>aCa	p.R1234T	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.R1234T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1234						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTCTATAGATCTAAGAAGAAC	0.428000													16	40					0	0	0.003163	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24963676	24963676	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:24963676T>C	ENST00000289968.6	-	12	1049	c.980A>G	c.(979-981)tAt>tGt	p.Y327C	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.Y327C	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	327	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		TTCCCGTAAATAGGATTTTAA	0.333000													13	24					0	0	0.003163	0	0
ZNF521	25925	broad.mit.edu	37	18	22805190	22805190	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:22805190C>A	ENST00000361524.3	-	4	2840	c.2692G>T	c.(2692-2694)Gaa>Taa	p.E898*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E678*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E898*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	898					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)					AGCAAAGTTTCCATAGTGTAG	0.502000			T	PAX5	ALL								29	35					1.75199e-13	1.87602e-13	0.007291	1	0
GBP5	115362	broad.mit.edu	37	1	89734510	89734510	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:89734510G>A	ENST00000343435.5	-	4	756	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	GBP5_ENST00000370459.3_Missense_Mutation_p.H74Y|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	74						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CCCTTGGTGTGAGACTGCACC	0.488000													18	46					0	0	0.008871	0	0
HLA-DMB	3109	broad.mit.edu	37	6	32908579	32908579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:32908579G>A	ENST00000416244.2	-	1	200	c.6C>T	c.(4-6)atC>atT	p.I2I	XXbac-BPG181M17.5_ENST00000429234.1_Silent_p.I34I|HLA-DMB_ENST00000418107.2_Silent_p.I2I			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	2					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGAATGTGATCATGCTCT	0.622000													3	6					0	0	0.004672	0	0
LRRK2	120892	broad.mit.edu	37	12	40748212	40748212	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:40748212G>A	ENST00000298910.7	+	45	6746	c.6688G>A	c.(6688-6690)Gaa>Aaa	p.E2230K		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2230					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CATCAATACCGAAGATGGGAA	0.408000													8	23					0	0	0.003080	0	0
GALR3	8484	broad.mit.edu	37	22	38220829	38220829	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:38220829C>G	ENST00000249041.2	+	2	484	c.459C>G	c.(457-459)ttC>ttG	p.F153L		NM_003614.1	NP_003605.1	O60755	GALR3_HUMAN	galanin receptor 3	153					feeding behavior|learning or memory|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			endometrium(1)|liver(2)|lung(1)	4	Melanoma(58;0.045)					CGGCGCTCTTCTCGGCGCCCT	0.771000													4	11					0	0	0.000602	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232551310	232551310	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:232551310C>T	ENST00000366630.1	-	18	5050	c.4692G>A	c.(4690-4692)ctG>ctA	p.L1564L	SIPA1L2_ENST00000308942.4_Silent_p.L638L|SIPA1L2_ENST00000262861.4_Silent_p.L1564L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1564					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGGGGCATCAGGCCAGGAT	0.537000													41	92					0	0	0.014410	0	0
PREX2	80243	broad.mit.edu	37	8	69104737	69104737	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:69104737C>T	ENST00000288368.4	+	37	4858	c.4581C>T	c.(4579-4581)atC>atT	p.I1527I		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1527					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GCCACATCATCATGTGCAGCA	0.522000													20	15					0	0	0.008361	0	0
NF1	4763	broad.mit.edu	37	17	29679408	29679408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:29679408C>T	ENST00000358273.4	+	51	7974	c.7591C>T	c.(7591-7593)Cag>Tag	p.Q2531*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q2510*|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Nonsense_Mutation_p.Q324*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2531					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCAACCTTCTCAGGCCAACAC	0.393000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	29					0	0	0.004482	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107461	6107461	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:6107461G>A	ENST00000409021.3	-	3	812	c.363C>T	c.(361-363)cgC>cgT	p.R121R	JAKMIP1_ENST00000282924.5_Silent_p.R121R|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000409831.1_Silent_p.R121R	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	121	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGCGCCGTCGCGCAGCACGT	0.726000													6	11					0	0	0.001984	0	0
GALM	130589	broad.mit.edu	37	2	38956810	38956810	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:38956810G>A	ENST00000272252.5	+	5	999	c.747G>A	c.(745-747)aaG>aaA	p.K249K	GALM_ENST00000410063.1_Silent_p.K101K	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	249					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				TCTGTCTGAAGGGATCTAAAG	0.438000													29	74					0	0	0.008361	0	0
TRAPPC8	22878	broad.mit.edu	37	18	29419397	29419397	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:29419397C>G	ENST00000283351.4	-	27	4196	c.3861G>C	c.(3859-3861)ttG>ttC	p.L1287F	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.L1233F	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1287					ER to Golgi vesicle-mediated transport	cis-Golgi network				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGAAAAATTTCAATAGTTCCA	0.328000													13	44					0	0	0.001855	0	0
NRG1	3084	broad.mit.edu	37	8	32463142	32463142	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:32463142T>C	ENST00000341377.5	+	3	858	c.341T>C	c.(340-342)gTg>gCg	p.V114A	NRG1_ENST00000405005.3_Missense_Mutation_p.V114A|NRG1_ENST00000521670.1_Missense_Mutation_p.V114A|NRG1_ENST00000523079.1_Missense_Mutation_p.V114A|NRG1_ENST00000287842.3_Missense_Mutation_p.V114A|NRG1_ENST00000520407.1_Missense_Mutation_p.V329A|NRG1_ENST00000519301.1_Missense_Mutation_p.V93A|NRG1_ENST00000338921.4_Missense_Mutation_p.V114A|NRG1_ENST00000356819.4_Missense_Mutation_p.V114A|NRG1_ENST00000287845.5_Missense_Mutation_p.V114A	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	114	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		ATGTGCAAAGTGATCAGCAAA	0.408000													21	35					0	0	0.002780	0	0
GOLGB1	2804	broad.mit.edu	37	3	121411211	121411211	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:121411211C>T	ENST00000393667.3	-	14	7110	c.7000G>A	c.(7000-7002)Gaa>Aaa	p.E2334K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E2329K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2329					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTACATTTTTCTAAAGAGTTA	0.373000													29	156					0	0	0.010818	0	0
CTSL3P	392360	broad.mit.edu	37	9	90401697	90401697	+	RNA	SNP	C	C	T	rs139694812	byFrequency	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:90401697C>T	ENST00000354530.2	+	0	555					NR_027917.1																						GTCATCTTATCGAGGAGGCTC	0.468000													40	44					0	0	0.009718	0	0
GRIK1	2897	broad.mit.edu	37	21	30959910	30959910	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:30959910C>G	ENST00000399914.1	-	11	2046		c.e11-1		GRIK1_ENST00000535441.1_Splice_Site|GRIK1_ENST00000389124.2_Splice_Site|GRIK1_ENST00000399907.1_Splice_Site|GRIK1_ENST00000399909.1_Splice_Site|GRIK1_ENST00000327783.4_Splice_Site|GRIK1_ENST00000399913.1_Splice_Site|GRIK1_ENST00000389125.3_Splice_Site|GRIK1_ENST00000309434.7_Splice_Site			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1						central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGTCAGCCCTCTGCAAAAGCA	0.453000													8	15					0	0	0.003080	0	0
FREM2	341640	broad.mit.edu	37	13	39262253	39262253	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:39262253G>A	ENST00000280481.7	+	1	988	c.772G>A	c.(772-774)Gct>Act	p.A258T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	258					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GGACTGCAAAGCTTTCCAGGA	0.642000													19	79					0	0	0.012319	0	0
ROS1	6098	broad.mit.edu	37	6	117631384	117631384	+	Silent	SNP	C	C	A	rs148504976		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:117631384C>A	ENST00000368508.3	-	40	6492	c.6294G>T	c.(6292-6294)gtG>gtT	p.V2098V	ROS1_ENST00000368507.3_Silent_p.V2092V	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2098	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.V2098V(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTCCAATCTTCACTATCCGTG	0.413000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								45	37					1.51943e-15	1.63112e-15	0.014410	1	0
PRKAA2	5563	broad.mit.edu	37	1	57169763	57169763	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:57169763C>T	ENST00000371244.4	+	7	974	c.908C>T	c.(907-909)aCa>aTa	p.T303I		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	303					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						TTTGAATGTACAGAATCAGAA	0.383000													43	61					0	0	0.011902	0	0
ATP2B2	491	broad.mit.edu	37	3	10420033	10420033	+	Silent	SNP	G	G	A	rs147871544		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:10420033G>A	ENST00000397077.1	-	9	1544	c.969C>T	c.(967-969)ggC>ggT	p.G323G	ATP2B2_ENST00000383800.4_Silent_p.G323G|ATP2B2_ENST00000352432.4_Silent_p.G368G|ATP2B2_ENST00000360273.2_Silent_p.G368G|ATP2B2_ENST00000343816.4_Silent_p.G354G			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	368					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTCAGCGTCGCCGCCCTCGG	0.627000													50	72					0	0	0.014410	0	0
PCSK9	255738	broad.mit.edu	37	1	55523773	55523773	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:55523773G>A	ENST00000302118.5	+	8	1535	c.1245G>A	c.(1243-1245)ctG>ctA	p.L415L	PCSK9_ENST00000543384.1_Silent_p.L215L|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	415	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GGCAGAGACTGATCCACTTCT	0.617000													27	41					0	0	0.005443	0	0
FAM212B	55924	broad.mit.edu	37	1	112281828	112281828	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:112281828G>A	ENST00000357260.5	-	1	218	c.37C>T	c.(37-39)Cgt>Tgt	p.R13C	FAM212B_ENST00000444059.2_Intron|FAM212B_ENST00000534365.1_Missense_Mutation_p.R13C	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	13										cervix(1)|endometrium(1)	2						TTGAGGCGACGGAGATAGCAG	0.672000													10	21					0	0	0.008291	0	0
CYP11A1	1583	broad.mit.edu	37	15	74640360	74640360	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:74640360G>A	ENST00000268053.6	-	2	460	c.306C>T	c.(304-306)atC>atT	p.I102I	CYP11A1_ENST00000419019.2_Intron|CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000541301.1_Silent_p.I102I	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	102					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTTCAGGGTCGATGACATAAA	0.582000													15	31					0	0	0.008871	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96559469	96559469	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:96559469G>A	ENST00000420871.2	-	34	1680	c.410C>T	c.(409-411)tCt>tTt	p.S137F	ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000456556.1_Intron|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.S307F					ankyrin repeat domain 36C											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTTCTGAGAAGACACTGAAAA	0.333000													6	15					0	0	0.001984	0	0
ZNF226	7769	broad.mit.edu	37	19	44680458	44680458	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:44680458C>T	ENST00000590089.1	+	7	1410	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000337433.5_Missense_Mutation_p.S348L|ZNF226_ENST00000454662.2_Missense_Mutation_p.S348L			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	348					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGTCGTAGATCAGCACTTAAT	0.468000													43	28					0	0	0.009718	0	0
PFKFB1	5207	broad.mit.edu	37	X	54959877	54959877	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:54959877C>T	ENST00000375006.3	-	14	1445	c.1375G>A	c.(1375-1377)Gaa>Aaa	p.E459K	PFKFB1_ENST00000374992.2_Missense_Mutation_p.E259K|PFKFB1_ENST00000545676.1_Missense_Mutation_p.E394K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	459	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TCCTCAGGTTCCCGGGTGATG	0.552000													27	16					0	0	0.004656	0	0
RAP2A	5911	broad.mit.edu	37	13	98086808	98086808	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:98086808C>T	ENST00000245304.4	+	1	333	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_021033.6	NP_066361.1	P10114	RAP2A_HUMAN	RAP2A, member of RAS oncogene family	28					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			CCGGCACCTTCATCGAGAAAT	0.647000													33	105					0	0	0.013726	0	0
OR2M3	127062	broad.mit.edu	37	1	248367166	248367166	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:248367166G>T	ENST00000456743.1	+	1	835	c.797G>T	c.(796-798)cGc>cTc	p.R266L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502000													58	110					3.74213e-36	4.05836e-36	0.014410	1	0
ZNF337	26152	broad.mit.edu	37	20	25657489	25657489	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:25657489C>T	ENST00000376436.1	-	4	974	c.435G>A	c.(433-435)agG>agA	p.R145R	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000538750.1_Silent_p.R113R|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.R145R					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTGTTCCTCCTCCTTGAGC	0.443000													31	144					0	0	0.004289	0	0
PPP3CA	5530	broad.mit.edu	37	4	101947192	101947192	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:101947192T>C	ENST00000394854.3	-	14	2079	c.1396A>G	c.(1396-1398)Aag>Gag	p.K466E	PPP3CA_ENST00000507176.1_Missense_Mutation_p.K368E|PPP3CA_ENST00000523694.2_Missense_Mutation_p.K399E|PPP3CA_ENST00000323055.6_Missense_Mutation_p.K414E|PPP3CA_ENST00000394853.4_Missense_Mutation_p.K456E|PPP3CA_ENST00000512215.1_Missense_Mutation_p.K234E	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	466	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		CTAGTGATCTTATGTTGTGGT	0.443000													14	42					0	0	0.004007	0	0
MKNK1	8569	broad.mit.edu	37	1	47024330	47024330	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:47024330G>A	ENST00000371946.4	-	14	1478	c.1315C>T	c.(1315-1317)Ccc>Tcc	p.P439S	MKNK1_ENST00000371945.4_Missense_Mutation_p.P398S|MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.P303S|MKNK1-AS1_ENST00000602433.1_RNA	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	439					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					GACTTGCAGGGAGGGGAAAGC	0.622000													5	37					0	0	0.001984	0	0
EPHA2	1969	broad.mit.edu	37	1	16464519	16464519	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:16464519C>T	ENST00000358432.5	-	5	1295	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	381	Fibronectin type-III 1.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CGCACACTGGCCTCACACGGC	0.657000													14	15					0	0	0.001855	0	0
MID2	11043	broad.mit.edu	37	X	107084505	107084505	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:107084505A>G	ENST00000262843.6	+	2	1158	c.610A>G	c.(610-612)Aac>Gac	p.N204D	MID2_ENST00000443968.2_Missense_Mutation_p.N204D	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	204						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGAGAAAGTGAACATGTACTG	0.507000													25	39					0	0	0.003330	0	0
TPTE	7179	broad.mit.edu	37	21	10934121	10934121	+	Splice_Site	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:10934121C>G	ENST00000298232.7	-	15	1170		c.e15-1		TPTE_ENST00000415664.2_Splice_Site|TPTE_ENST00000342420.5_Splice_Site|TPTE_ENST00000361285.4_Splice_Site	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCTCTTTCACCTAAAATAAAT	0.299000													22	163					0	0	0.002780	0	0
GIGYF2	26058	broad.mit.edu	37	2	233626135	233626135	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:233626135G>A	ENST00000373566.3	+	8	718	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	GIGYF2_ENST00000409547.1_Missense_Mutation_p.R174Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R174Q|AC064852.4_ENST00000427571.1_RNA|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R174Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R174Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	174	Arg-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAACCAGGACGAAAAGATGTA	0.378000													14	28					0	0	0.004990	0	0
OPA1	4976	broad.mit.edu	37	3	193372785	193372785	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:193372785C>T	ENST00000361510.2	+	22	2381	c.2147C>T	c.(2146-2148)aCt>aTt	p.T716I	OPA1_ENST00000392438.3_Missense_Mutation_p.T661I|OPA1_ENST00000361150.2_Missense_Mutation_p.T662I|OPA1_ENST00000361715.2_Missense_Mutation_p.T680I|OPA1_ENST00000361828.2_Missense_Mutation_p.T679I|OPA1_ENST00000361908.3_Missense_Mutation_p.T698I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	661					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAACAGTGGACTGATAAACAA	0.368000													14	27					0	0	0.008871	0	0
KRT3	3850	broad.mit.edu	37	12	53186528	53186528	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:53186528A>G	ENST00000417996.2	-	4	1064	c.990T>C	c.(988-990)gaT>gaC	p.D330D	KRT3_ENST00000309505.3_Silent_p.D330D	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	330	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGTCGATCTCATCTATCAAGG	0.473000													70	154					0	0	0.014410	0	0
PCDH1	5097	broad.mit.edu	37	5	141244801	141244801	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:141244801G>A	ENST00000287008.3	-	3	1242	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.N353N|PCDH1_ENST00000394536.3_Silent_p.N365N|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Silent_p.N343N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	365	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACTCTTGGGGTTGGTGCCTC	0.577000													19	104					0	0	0.014323	0	0
OR10K1	391109	broad.mit.edu	37	1	158435526	158435526	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:158435526A>T	ENST00000289451.2	+	1	255	c.175A>T	c.(175-177)Atg>Ttg	p.M59L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCATACTCCCATGTACTTCTT	0.473000													43	131					0	0	0.013114	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102446773	102446773	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:102446773C>A	ENST00000360184.4	+	5	1011	c.847C>A	c.(847-849)Cgt>Agt	p.R283S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	283	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACTTGGAACGTGCGTTATA	0.468000													4	35					0.00024832	0.000257124	0.009096	1	0
TRIM41	90933	broad.mit.edu	37	5	180660709	180660709	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:180660709C>T	ENST00000315073.5	+	5	1947	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	TRIM41_ENST00000351937.5_Silent_p.L413L|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	413	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCATGACTTCCTGACAGATGC	0.602000													15	51					0	0	0.004007	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													5	37					0	0	0.001984	0	0
PTPN12	5782	broad.mit.edu	37	7	77230076	77230076	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:77230076G>A	ENST00000248594.6	+	8	920	c.648G>A	c.(646-648)atG>atA	p.M216I	PTPN12_ENST00000435495.2_Missense_Mutation_p.M86I|PTPN12_ENST00000415482.2_Missense_Mutation_p.M97I	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	216	Tyrosine-protein phosphatase.					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TAAGCTTAATGAGGAAATATC	0.328000													3	25					0	0	0.004672	0	0
SEC23IP	11196	broad.mit.edu	37	10	121652347	121652347	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:121652347C>T	ENST00000369075.3	+	1	125	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	18	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		ACTTCCTCATCGGGCACTAAC	0.627000													8	25					0	0	0.003080	0	0
DNAH11	8701	broad.mit.edu	37	7	21639522	21639522	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:21639522T>A	ENST00000328843.6	+	15	2816	c.2785T>A	c.(2785-2787)Ttc>Atc	p.F929I	DNAH11_ENST00000409508.3_Missense_Mutation_p.F929I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	929	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CGACTTAGACTTCTTTCTGAA	0.398000									Kartagener syndrome				5	32					0	0	0.000602	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460633	5460633	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:5460633G>A	ENST00000296564.7	+	13	1408	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	396										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TTCAGAAGATGATACAACTGA	0.373000													4	6					0	0	0.009096	0	0
ARHGAP6	395	broad.mit.edu	37	X	11204418	11204418	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:11204418T>C	ENST00000337414.4	-	5	2083	c.1211A>G	c.(1210-1212)aAt>aGt	p.N404S	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.N213S|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.N404S|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.N229S|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.N201S|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.N201S|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.N436S	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	404	Rho-GAP.				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTAAATAGGATTCAGACTGAG	0.428000													110	84					0	0	0.014410	0	0
HIPK3	10114	broad.mit.edu	37	11	33361046	33361046	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:33361046A>G	ENST00000303296.4	+	6	1884	c.1579A>G	c.(1579-1581)Atg>Gtg	p.M527V	HIPK3_ENST00000525975.1_Missense_Mutation_p.M527V|HIPK3_ENST00000379016.3_Missense_Mutation_p.M527V|HIPK3_ENST00000456517.1_Missense_Mutation_p.M527V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	527					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTTGTTAATATGAAACATCT	0.323000													22	88					0	0	0.004656	0	0
ATAD3A	55210	broad.mit.edu	37	1	1451459	1451459	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:1451459C>G	ENST00000378755.5	+	2	367	c.273C>G	c.(271-273)tcC>tcG	p.S91S	ATAD3A_ENST00000536055.1_Silent_p.S12S|ATAD3A_ENST00000378756.3_Silent_p.S91S	NM_018188.3	NP_060658.3	Q9NVI7	ATD3A_HUMAN	ATPase family, AAA domain containing 3A	91							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		AGCAACAGTCCAAGCTCAAAG	0.632000													13	26					0	0	0.002450	0	0
PLCB3	5331	broad.mit.edu	37	11	64023082	64023082	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:64023082C>T	ENST00000540288.1	+	7	694	c.591C>T	c.(589-591)ttC>ttT	p.F197F	PLCB3_ENST00000279230.6_Silent_p.F197F|PLCB3_ENST00000325234.5_Silent_p.F130F	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	197					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GCCTCAAATTCAACCGGGTGT	0.642000													29	37					0	0	0.010818	0	0
USH2A	7399	broad.mit.edu	37	1	216591900	216591900	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:216591900G>A	ENST00000366943.2	-	3	993	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L	USH2A_ENST00000307340.3_Silent_p.L203L|USH2A_ENST00000366942.3_Silent_p.L203L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	203					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)		ATTCTCCCCAGTGTCATTACT	0.338000										HNSCC(13;0.011)			24	66					0	0	0.004656	0	0
SUOX	6821	broad.mit.edu	37	12	56396035	56396035	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:56396035C>T	ENST00000394109.3	+	1	754	c.30C>T	c.(28-30)ctC>ctT	p.L10L	SUOX_ENST00000551841.2_Silent_p.L10L|SUOX_ENST00000266971.3_Silent_p.L10L|SUOX_ENST00000548274.1_Silent_p.L10L|SUOX_ENST00000356124.4_Silent_p.L10L|SUOX_ENST00000394115.2_Silent_p.L10L|SUOX_ENST00000550478.1_3'UTR			P51687	SUOX_HUMAN	sulfite oxidase	10						mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CTGTGGTCCTCAGGCTCCAAC	0.547000													21	45					0	0	0.014323	0	0
LRP2	4036	broad.mit.edu	37	2	170175331	170175331	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:170175331G>C	ENST00000263816.3	-	3	536	c.251C>G	c.(250-252)tCc>tGc	p.S84C	LRP2_ENST00000443831.1_Missense_Mutation_p.S84C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	84	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACACCCAGGAGTTGGGGAT	0.468000													7	71					0	0	0.004482	0	0
CLASP2	23122	broad.mit.edu	37	3	33614729	33614729	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:33614729G>A	ENST00000399362.4	-	26	2949	c.2596C>T	c.(2596-2598)Cct>Tct	p.P866S	CLASP2_ENST00000468888.2_Missense_Mutation_p.P867S|CLASP2_ENST00000480013.1_Missense_Mutation_p.P646S|CLASP2_ENST00000539981.1_Missense_Mutation_p.P636S|CLASP2_ENST00000359576.5_Missense_Mutation_p.P858S|CLASP2_ENST00000307312.7_Missense_Mutation_p.P347S|CLASP2_ENST00000461133.3_Missense_Mutation_p.P625S	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	867										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ATATATGTAGGAATACTACCA	0.433000													70	135					0	0	0.014410	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70967593	70967593	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:70967593G>T	ENST00000359655.4	+	14	1881	c.1821G>T	c.(1819-1821)tgG>tgT	p.W607C		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	607					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTTTGCATGGTTACGCCGAT	0.443000													9	40					0.00829132	0.00851242	0.008291	1	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													10	44					0	0	0.006214	0	0
ZSWIM8	23053	broad.mit.edu	37	10	75556602	75556602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:75556602C>T	ENST00000604729.1	+	16	3401	c.3104C>T	c.(3103-3105)tCt>tTt	p.S1035F	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.S997F|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.S1030F|RP11-574K11.31_ENST00000603027.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.S1035F|ZSWIM8_ENST00000605216.1_Missense_Mutation_p.S1030F|ZSWIM8-AS1_ENST00000456638.2_RNA					zinc finger, SWIM-type containing 8																		TTCTACTCATCTAGCCGCCCA	0.577000													14	72					0	0	0.002450	0	0
WNT9B	7484	broad.mit.edu	37	17	44954078	44954078	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:44954078G>A	ENST00000290015.2	+	4	1121	c.1068G>A	c.(1066-1068)aaG>aaA	p.K356K	WNT9B_ENST00000393461.2_Intron	NM_003396.1	NP_003387.1	O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	356					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACACCTGCAAGCACTAGGCCT	0.627000													12	31					0	0	0.010729	0	0
CNFN	84518	broad.mit.edu	37	19	42891312	42891312	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:42891312C>T	ENST00000222032.5	-	4	381	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	CNFN_ENST00000597255.1_Missense_Mutation_p.R111Q	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	111					keratinization	cornified envelope|cytoplasm				lung(1)|prostate(1)	2		Prostate(69;0.00899)				TCCTTACTCTCGGATCTTCAG	0.637000													18	16					0	0	0.010504	0	0
WDR91	29062	broad.mit.edu	37	7	134894412	134894412	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:134894412G>A	ENST00000354475.4	-	2	250	c.219C>T	c.(217-219)ttC>ttT	p.F73F	WDR91_ENST00000344400.5_Silent_p.F73F|WDR91_ENST00000423565.1_Silent_p.F38F	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	73										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CCAAGCGGCTGAAGAGCCGAC	0.493000													46	83					0	0	0.014410	0	0
ID1	3397	broad.mit.edu	37	20	30193214	30193214	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:30193214C>T	ENST00000376105.3	+	1	123	c.24C>T	c.(22-24)acC>acT	p.T8T	ID1_ENST00000376112.3_Silent_p.T8T	NM_181353.2	NP_851998.1	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	8					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GTGGCAGCACCGCCACCGCCG	0.622000													14	29					0	0	0.006122	0	0
NLRP2	55655	broad.mit.edu	37	19	55493759	55493759	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:55493759A>G	ENST00000543010.1	+	6	836	c.693A>G	c.(691-693)gcA>gcG	p.A231A	NLRP2_ENST00000339757.7_Silent_p.A209A|NLRP2_ENST00000538819.1_Silent_p.A207A|NLRP2_ENST00000427260.2_Silent_p.A208A|NLRP2_ENST00000263437.6_Silent_p.A228A|NLRP2_ENST00000448584.2_Silent_p.A231A|NLRP2_ENST00000391721.4_Silent_p.A207A|NLRP2_ENST00000537859.1_Silent_p.A209A	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	231	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TAGACTGGGCAGAGGACAACC	0.577000													29	17					0	0	0.009535	0	0
SERPINE2	5270	broad.mit.edu	37	2	224849561	224849561	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:224849561C>T	ENST00000409840.3	-	6	1452	c.792G>A	c.(790-792)ccG>ccA	p.P264P	SERPINE2_ENST00000258405.4_Silent_p.P264P|SERPINE2_ENST00000447280.2_Silent_p.P276P|SERPINE2_ENST00000409304.1_Silent_p.P264P			P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	264					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGCAGACAGCGGAGTGGAGC	0.537000													18	37					0	0	0.004990	0	0
RYR1	6261	broad.mit.edu	37	19	39068655	39068655	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:39068655G>A	ENST00000355481.4	+	97	14386	c.14255G>A	c.(14254-14256)cGc>cAc	p.R4752H	RYR1_ENST00000359596.3_Missense_Mutation_p.R4757H|RYR1_ENST00000360985.3_Missense_Mutation_p.R4752H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4757					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CACAATGAGCGCAAGCCCAAC	0.632000													14	27					0	0	0.004007	0	0
SVEP1	79987	broad.mit.edu	37	9	113205828	113205828	+	Missense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:113205828G>T	ENST00000401783.2	-	27	4972	c.4636C>A	c.(4636-4638)Cct>Act	p.P1546T	SVEP1_ENST00000302728.8_Missense_Mutation_p.P1546T|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.P1523T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1546	Pentaxin.			P -> PGMF (in Ref. 1; CAF04067).	cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AACATACCAGGTATGGGCAAA	0.418000													7	6					0.000157383	0.000163362	0.003080	1	0
ALLC	55821	broad.mit.edu	37	2	3730543	3730543	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:3730543C>T	ENST00000252505.3	+	7	552	c.390C>T	c.(388-390)gaC>gaT	p.D130D		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	149							allantoicase activity	p.D130D(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		TAAAATCCGACGACTGGAGTT	0.428000										HNSCC(21;0.051)			30	96					0	0	0.008361	0	0
MYCBP2	23077	broad.mit.edu	37	13	77852999	77852999	+	Silent	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:77852999T>C	ENST00000407578.2	-	4	908	c.642A>G	c.(640-642)acA>acG	p.T214T	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Silent_p.T176T|MYCBP2_ENST00000544440.2_Silent_p.T176T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGAAAATCGTGTCTCTTTGA	0.438000													16	29					0	0	0.006122	0	0
MARK2	2011	broad.mit.edu	37	11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:63672397C>T	ENST00000402010.2	+	16	2395	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	MARK2_ENST00000509502.2_Missense_Mutation_p.R572W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000502399.3_Missense_Mutation_p.R605W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	606					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647000													5	86					0	0	0.001168	0	0
C11orf82	220042	broad.mit.edu	37	11	82643785	82643785	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:82643785A>T	ENST00000533655.1	+	6	1617	c.1405A>T	c.(1405-1407)Act>Tct	p.T469S	C11orf82_ENST00000329143.3_Missense_Mutation_p.T168S|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.T469S	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	469					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						CCAGAGAACTACTGGAGCCCT	0.403000													19	25					0	0	0.010504	0	0
DHRS4L2	317749	broad.mit.edu	37	14	24470602	24470602	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:24470602C>T	ENST00000335125.6	+	6	667	c.541C>T	c.(541-543)Cct>Tct	p.P181S	DHRS4L2_ENST00000534993.1_Intron|DHRS4L2_ENST00000558753.1_Missense_Mutation_p.P106S|DHRS4L2_ENST00000545240.1_Intron|DHRS4L2_ENST00000382755.4_Missense_Mutation_p.P179S|DHRS4L2_ENST00000537912.1_Missense_Mutation_p.P106S|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000397071.1_Intron	NM_198083.3	NP_932349.2	D5KJA1	D5KJA1_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	119							binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		GGGCTTCAGTCCTTACAATGT	0.478000													25	88					0	0	0.009535	0	0
PLA2G6	8398	broad.mit.edu	37	22	38541624	38541624	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:38541624C>T	ENST00000332509.3	-	3	429	c.246G>A	c.(244-246)gtG>gtA	p.V82V	PLA2G6_ENST00000447598.2_3'UTR|PLA2G6_ENST00000435484.1_3'UTR|PLA2G6_ENST00000335539.3_Silent_p.V82V|PLA2G6_ENST00000436218.1_Silent_p.V82V|PLA2G6_ENST00000417303.2_3'UTR|PLA2G6_ENST00000402064.1_Silent_p.V82V	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	82					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GATGGAAATTCACTAGGGCGT	0.572000													15	36					0	0	0.007413	0	0
UBE4B	10277	broad.mit.edu	37	1	10211454	10211454	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:10211454A>G	ENST00000377157.3	+	20	3087	c.2026A>G	c.(2026-2028)Aac>Gac	p.N676D	UBE4B_ENST00000343090.6_Missense_Mutation_p.N921D|UBE4B_ENST00000253251.8_Missense_Mutation_p.N792D	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	921					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GATGTTGTGCAACCAGAACTA	0.458000													14	99					0	0	0.002450	0	0
KIR3DX1	90011	broad.mit.edu	37	19	55045040	55045040	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:55045040C>T	ENST00000335056.3	+	3	198	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W															p.R54W(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		TTCCCATCTTCGGTTTGTCAT	0.537000													40	17					0	0	0.006999	0	0
ARSK	153642	broad.mit.edu	37	5	94891054	94891054	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:94891054G>A	ENST00000380009.4	+	1	277	c.72G>A	c.(70-72)caG>caA	p.Q24Q	ARSK_ENST00000504763.1_Silent_p.Q24Q	NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	24						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CAGGGGAGCAGAGGCGGAGAG	0.697000													6	20					0	0	0.001168	0	0
INO80D	54891	broad.mit.edu	37	2	206921331	206921331	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:206921331C>T	ENST00000403263.1	-	4	959	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	185					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTTTTAAAATCTCTGTCTCTC	0.498000													5	14					0	0	0.000602	0	0
TIAM2	26230	broad.mit.edu	37	6	155561805	155561805	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:155561805A>G	ENST00000461783.3	+	18	4583	c.3310A>G	c.(3310-3312)Atc>Gtc	p.I1104V	TIAM2_ENST00000367174.2_Missense_Mutation_p.I480V|TIAM2_ENST00000275246.7_Missense_Mutation_p.I29V|TIAM2_ENST00000360366.4_Missense_Mutation_p.I1128V|TIAM2_ENST00000318981.5_Missense_Mutation_p.I1104V|TIAM2_ENST00000529824.2_Missense_Mutation_p.I1104V|TIAM2_ENST00000456144.1_Missense_Mutation_p.I1104V|TIAM2_ENST00000528391.2_Missense_Mutation_p.I440V|TIAM2_ENST00000456877.2_Missense_Mutation_p.I416V			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1104	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCGCAAAGTCATCCAGGAGCT	0.567000													16	24					0	0	0.008871	0	0
BTBD17	388419	broad.mit.edu	37	17	72352856	72352856	+	Silent	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:72352856G>T	ENST00000375366.3	-	3	1503	c.1377C>A	c.(1375-1377)gcC>gcA	p.A459A		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	459						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCAGGTGCAGGGCGTTCTCAA	0.647000													20	72					2.98393e-07	3.12409e-07	0.002780	1	0
PRG2	5553	broad.mit.edu	37	11	57156559	57156559	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:57156559T>G	ENST00000311862.5	-	3	363	c.290A>C	c.(289-291)aAa>aCa	p.K97T	PRG2_ENST00000525955.1_Missense_Mutation_p.K97T|PRG2_ENST00000533605.1_Missense_Mutation_p.K97T|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.K202T	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3			proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)											central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCACCACTTTTACTGTGTC	0.527000													20	99					0	0	0.010504	0	0
SULF2	55959	broad.mit.edu	37	20	46292924	46292924	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:46292924G>C	ENST00000359930.4	-	15	2858	c.2007C>G	c.(2005-2007)acC>acG	p.T669T	SULF2_ENST00000484875.1_Silent_p.T669T|SULF2_ENST00000467815.1_Silent_p.T669T|SULF2_ENST00000361612.4_Silent_p.T669T	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	669					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CTTTGTGCTGGGTGTGGTAGC	0.602000											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	25					0	0	0.008291	0	0
MRPL39	54148	broad.mit.edu	37	21	26978900	26978900	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:26978900G>C	ENST00000307301.7	-	2	182	c.141C>G	c.(139-141)ctC>ctG	p.L47L	MRPL39_ENST00000352957.4_Silent_p.L47L	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	47						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						CTTTATTAAAGAGATCATTCC	0.413000													7	48					0	0	0.003080	0	0
NHLH2	4808	broad.mit.edu	37	1	116380930	116380930	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:116380930C>G	ENST00000369506.1	-	1	5608	c.64G>C	c.(64-66)Gag>Cag	p.E22Q	NHLH2_ENST00000320238.3_Missense_Mutation_p.E22Q			Q02577	HEN2_HUMAN	nescient helix loop helix 2	22					cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCAGGGACTCCGGATCCGAG	0.657000													4	11					0	0	0.009096	0	0
MASP2	10747	broad.mit.edu	37	1	11097835	11097835	+	Missense_Mutation	SNP	T	T	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:11097835T>G	ENST00000400897.3	-	7	938	c.923A>C	c.(922-924)aAt>aCt	p.N308T		NM_006610.3	NP_006601.2	O00187	MASP2_HUMAN	mannan-binding lectin serine peptidase 2	308	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AACGTGGCCATTAGGTGGCGC	0.502000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	68					0	0	0.002450	0	0
ZFP91	80829	broad.mit.edu	37	11	58384270	58384270	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:58384270C>A	ENST00000316059.6	+	10	1355	c.1184C>A	c.(1183-1185)aCt>aAt	p.T395N	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.T395N	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	395					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATGATTCACACTGGCGAGAAG	0.423000													7	36					0.000274275	0.000283306	0.004482	1	0
NFKB1	4790	broad.mit.edu	37	4	103534637	103534637	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:103534637C>T	ENST00000226574.4	+	23	3115	c.2648C>T	c.(2647-2649)aCc>aTc	p.T883I	NFKB1_ENST00000600343.1_Missense_Mutation_p.T702I|NFKB1_ENST00000394820.4_Missense_Mutation_p.T882I|NFKB1_ENST00000505458.1_Missense_Mutation_p.T882I	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	882	Death.|Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	ATGGGCTACACCGAAGCAATT	0.562000													4	27					0	0	0.009096	0	0
ARID2	196528	broad.mit.edu	37	12	46287315	46287315	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:46287315C>T	ENST00000334344.6	+	19	5432	c.5260C>T	c.(5260-5262)Cga>Tga	p.R1754*	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1605*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R1364*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.R362*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1754					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCTTGTCTTTCGAGATTTTAC	0.403000			"""N, S, F"""		hepatocellular carcinoma								26	36					0	0	0.005443	0	0
C14orf39	317761	broad.mit.edu	37	14	60945040	60945040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:60945040G>A	ENST00000321731.3	-	5	460	c.301C>T	c.(301-303)Caa>Taa	p.Q101*		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	101										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACAGTTCCTTGATAAACAGTA	0.289000													12	27					0	0	0.003163	0	0
RBBP7	5931	broad.mit.edu	37	X	16864054	16864054	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:16864054T>A	ENST00000380087.2	-	11	1466	c.1106A>T	c.(1105-1107)cAt>cTt	p.H369L	RBBP7_ENST00000404022.1_Missense_Mutation_p.H360L|RBBP7_ENST00000380084.4_Missense_Mutation_p.H413L			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	369					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GTGTCCTCCATGAATAAACTG	0.363000													31	19					0	0	0.007291	0	0
CHPT1	56994	broad.mit.edu	37	12	102107950	102107950	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:102107950G>A	ENST00000549872.1	+	2	546	c.356G>A	c.(355-357)aGa>aAa	p.R119K	CHPT1_ENST00000229266.3_Missense_Mutation_p.R119K|CHPT1_ENST00000550385.1_3'UTR			Q8WUD6	CHPT1_HUMAN	choline phosphotransferase 1	119					platelet activating factor biosynthetic process|regulation of cell growth	Golgi membrane|integral to membrane|microsome	diacylglycerol binding|diacylglycerol cholinephosphotransferase activity|metal ion binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AAACAAGCCAGAAGAACAAAC	0.378000													52	124					0	0	0.014410	0	0
TERF2	7014	broad.mit.edu	37	16	69419544	69419544	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:69419544G>C	ENST00000254942.3	-	1	347	c.331C>G	c.(331-333)Cgg>Ggg	p.R111G	TERF2_ENST00000603068.1_Missense_Mutation_p.R69G|TERF2_ENST00000567296.2_Missense_Mutation_p.R111G	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	69	TRFH dimerization.				age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				CGGCTACCCCGAAAGGCCCGC	0.721000													3	23					0	0	0.009096	0	0
SMCHD1	23347	broad.mit.edu	37	18	2750410	2750410	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:2750410T>C	ENST00000320876.6	+	32	4408	c.4070T>C	c.(4069-4071)aTt>aCt	p.I1357T	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.I1357T	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1357					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGACCTATAATTAAGTTAATG	0.383000													11	29					0	0	0.010729	0	0
TP53	7157	broad.mit.edu	37	17	7578269	7578269	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:7578269G>A	ENST00000420246.2	-	6	712	c.580C>T	c.(580-582)Ctt>Ttt	p.L194F	TP53_ENST00000359597.4_Missense_Mutation_p.L194F|TP53_ENST00000445888.2_Missense_Mutation_p.L194F|TP53_ENST00000455263.2_Missense_Mutation_p.L194F|TP53_ENST00000413465.2_Missense_Mutation_p.L194F|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.L194F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194F(17)|p.0?(8)|p.?(6)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.L194fs*15(2)|p.A189fs*53(1)|p.L194V(1)|p.L194I(1)|p.P191fs*6(1)|p.P98_E105>Q(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.L194fs*52(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACTCGGATAAGATGCTGAGGA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			13	18					0	0	0.002450	0	0
RHOV	171177	broad.mit.edu	37	15	41165937	41165937	+	Missense_Mutation	SNP	T	T	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:41165937T>A	ENST00000220507.4	-	2	361	c.212A>T	c.(211-213)cAa>cTa	p.Q71L		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	71					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		CACCAGGACTTGCACTGCAGG	0.697000													23	91					0	0	0.003330	0	0
CD36	948	broad.mit.edu	37	7	80301250	80301250	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:80301250A>G	ENST00000435819.1	+	14	1703	c.1019A>G	c.(1018-1020)tAc>tGc	p.Y340C	CD36_ENST00000309881.7_Missense_Mutation_p.Y340C|CD36_ENST00000544133.1_Silent_p.V277V|CD36_ENST00000394788.3_Missense_Mutation_p.Y340C|CD36_ENST00000538969.1_Missense_Mutation_p.Y280C|CD36_ENST00000433696.2_Missense_Mutation_p.Y301C|CD36_ENST00000432207.1_Missense_Mutation_p.Y340C|CD36_ENST00000447544.2_Missense_Mutation_p.Y340C|CD36_ENST00000534394.1_Missense_Mutation_p.Y264C			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	340					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AGACCTGTGTACATTTCACTT	0.328000													10	41					0	0	0.008291	0	0
METAP2	10988	broad.mit.edu	37	12	95907493	95907493	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:95907493G>A	ENST00000323666.5	+	11	1479	c.1250G>A	c.(1249-1251)cGc>cAc	p.R417H	METAP2_ENST00000550777.1_Missense_Mutation_p.R381H|METAP2_ENST00000546753.1_Missense_Mutation_p.R394H|METAP2_ENST00000261220.9_Missense_Mutation_p.R394H|METAP2_ENST00000551840.1_Missense_Mutation_p.R416H	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	417					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GCCTTCTGCCGCAGATGGCTG	0.408000													4	76					0	0	0.009096	0	0
ROS1	6098	broad.mit.edu	37	6	117683996	117683996	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:117683996T>C	ENST00000368508.3	-	21	3349	c.3151A>G	c.(3151-3153)Ata>Gta	p.I1051V	ROS1_ENST00000368507.3_Missense_Mutation_p.I1046V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1051	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGGTAATATAAATATTCTG	0.348000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								14	11					0	0	0.001855	0	0
FAM84B	157638	broad.mit.edu	37	8	127569332	127569332	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:127569332C>T	ENST00000304916.3	-	2	758	c.303G>A	c.(301-303)tcG>tcA	p.S101S	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	101						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TCAGCGCCGCCGAGCCCGGCG	0.657000													5	35					0	0	0.000602	0	0
SLC25A46	91137	broad.mit.edu	37	5	110091194	110091194	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:110091194A>G	ENST00000355943.3	+	6	719	c.593A>G	c.(592-594)cAa>cGa	p.Q198R	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_5'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.Q198R|SLC25A46_ENST00000509442.2_Missense_Mutation_p.Q107R|SLC25A46_ENST00000513807.1_Missense_Mutation_p.Q36R|SLC25A46_ENST00000504098.1_Missense_Mutation_p.Q52R	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	198					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTCCTAAACAAATAGGAGAA	0.279000													16	39					0	0	0.012319	0	0
SLC38A10	124565	broad.mit.edu	37	17	79220205	79220205	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:79220205C>T	ENST00000374759.3	-	16	2894	c.2511G>A	c.(2509-2511)caG>caA	p.Q837Q		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	837					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGCATCCTTCTGGCCATCTC	0.716000													7	25					0	0	0.003080	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148743624	148743624	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:148743624G>C	ENST00000514349.1	+	2	630	c.51G>C	c.(49-51)gtG>gtC	p.V17V	PCYOX1L_ENST00000274569.4_Silent_p.V107V			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	107					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGGTGGTGGGCAGGAGCG	0.617000													11	60					0	0	0.013537	0	0
POLG2	11232	broad.mit.edu	37	17	62493064	62493064	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:62493064C>T	ENST00000539111.2	-	1	90	c.23G>A	c.(22-24)aGg>aAg	p.R8K		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	8					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			ATGGCAGGCCCTGACGGCTAC	0.567000													16	53					0	0	0.006122	0	0
SLC2A4	6517	broad.mit.edu	37	17	7187317	7187317	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:7187317T>C	ENST00000317370.8	+	5	741	c.473T>C	c.(472-474)aTg>aCg	p.M158T	SLC2A4_ENST00000424875.2_Missense_Mutation_p.M148T|SLC2A4_ENST00000571308.1_Missense_Mutation_p.M158T|RP1-4G17.2_ENST00000576271.1_RNA	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	158					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGGTGCCCATGTACGTGGGG	0.612000													10	14					0	0	0.006214	0	0
OAS2	4939	broad.mit.edu	37	12	113442824	113442824	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:113442824C>A	ENST00000392583.2	+	7	1472	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	OAS2_ENST00000342315.4_Missense_Mutation_p.T422N|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	422	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAAAGCTACACCTCCCAAAAA	0.488000													19	34					1.67942e-08	1.76704e-08	0.006122	1	0
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:56780655T>C	ENST00000337432.4	+	4	741	c.670T>C	c.(670-672)Tat>Cat	p.Y224H	RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.Y224H	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	224					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				24	42					0	0	0.003954	0	0
DMXL2	23312	broad.mit.edu	37	15	51795035	51795035	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:51795035G>A	ENST00000251076.5	-	17	3247	c.2960C>T	c.(2959-2961)tCa>tTa	p.S987L	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.S987L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	987						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TACTTCAACTGATTCTGGGAG	0.418000													9	46					0	0	0.006214	0	0
COL24A1	255631	broad.mit.edu	37	1	86591602	86591602	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:86591602A>C	ENST00000370571.2	-	3	783	c.417T>G	c.(415-417)ccT>ccG	p.P139P	COL24A1_ENST00000436319.1_Silent_p.P139P	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	139	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTAATTTTTTAGGTAGTAATT	0.353000													22	18					0	0	0.003330	0	0
CLPTM1	1209	broad.mit.edu	37	19	45477814	45477814	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:45477814A>G	ENST00000541297.2	+	4	851	c.386A>G	c.(385-387)gAc>gGc	p.D129G	CLPTM1_ENST00000337392.5_Missense_Mutation_p.D143G|CLPTM1_ENST00000546079.1_Missense_Mutation_p.D41G			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	143					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAGAACTCAGACGGCTGCTAC	0.567000													33	27					0	0	0.003271	0	0
SEC31B	25956	broad.mit.edu	37	10	102256971	102256971	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:102256971T>C	ENST00000370345.3	-	17	2154	c.2057A>G	c.(2056-2058)tAt>tGt	p.Y686C		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	686					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		TGAGCACACATAACAGAGTCT	0.567000													14	53					0	0	0.007413	0	0
RGS22	26166	broad.mit.edu	37	8	101083755	101083755	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:101083755A>G	ENST00000360863.6	-	6	630	c.436T>C	c.(436-438)Ttg>Ctg	p.L146L	RGS22_ENST00000523287.1_Intron|RGS22_ENST00000523437.1_Silent_p.L146L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	146					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGTGAGACCAATTTGGCTAAC	0.368000													19	24					0	0	0.014323	0	0
INO80	54617	broad.mit.edu	37	15	41337203	41337203	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:41337203C>T	ENST00000361937.3	-	24	3230	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	INO80_ENST00000401393.3_Missense_Mutation_p.E936K			Q9ULG1	INO80_HUMAN	INO80 complex subunit	936	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTCTCCCCTTCTGGCGCTCCC	0.493000													14	49					0	0	0.004990	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407270	105407270	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:105407270A>G	ENST00000333244.5	-	7	14637	c.14518T>C	c.(14518-14520)Tct>Cct	p.S4840P	AHNAK2_ENST00000557457.1_5'UTR	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4840						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCAGCTTGAGATGTTGGAACT	0.463000													4	13					0	0	0.009096	0	0
FZD3	7976	broad.mit.edu	37	8	28413267	28413267	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:28413267G>C	ENST00000240093.3	+	7	2044	c.1566G>C	c.(1564-1566)gaG>gaC	p.E522D	FZD3_ENST00000537916.1_Missense_Mutation_p.E522D	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	522					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TAGTGAATGAGAGCCGACAGG	0.393000													12	45					0	0	0.001855	0	0
ZRANB3	84083	broad.mit.edu	37	2	135960517	135960517	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:135960517C>T	ENST00000401392.1	-	20	3232	c.3020G>A	c.(3019-3021)aGa>aAa	p.R1007K	ZRANB3_ENST00000264159.6_Missense_Mutation_p.R1009K|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.R1007K			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1009						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		CCCTGGGTTTCTTATCATTTC	0.433000													8	22					0	0	0.003080	0	0
PLXNA1	5361	broad.mit.edu	37	3	126724992	126724992	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:126724992C>T	ENST00000393409.2	+	7	1968	c.1968C>T	c.(1966-1968)ttC>ttT	p.F656F	PLXNA1_ENST00000251772.4_Silent_p.F633F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	656					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGGACTTCGTCTTCTACA	0.607000													22	176					0	0	0.010504	0	0
CNTN1	1272	broad.mit.edu	37	12	41327360	41327360	+	Silent	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:41327360A>T	ENST00000551295.2	+	8	918	c.801A>T	c.(799-801)ggA>ggT	p.G267G	CNTN1_ENST00000348761.2_Silent_p.G256G|CNTN1_ENST00000347616.1_Silent_p.G267G|CNTN1_ENST00000360099.3_Silent_p.G267G|CNTN1_ENST00000547702.1_Silent_p.G267G|CNTN1_ENST00000547849.1_Silent_p.G267G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	267	Ig-like C2-type 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTGCACTTGGAAAGTAAGTAT	0.284000													24	67					0	0	0.003330	0	0
NDUFA13	51079	broad.mit.edu	37	19	19626839	19626839	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:19626839G>C	ENST00000252576.5	+	1	41	c.41G>C	c.(40-42)aGa>aCa	p.R14T	NDUFA13_ENST00000507754.4_5'UTR	NM_015965.6	NP_057049.5			NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						CTGGGCAAAAGAGGAGTAAAG	0.612000													18	20					0	0	0.006122	0	0
TTC13	79573	broad.mit.edu	37	1	231048454	231048454	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:231048454G>A	ENST00000366661.4	-	19	2151	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I	TTC13_ENST00000414259.1_Missense_Mutation_p.T662I|TTC13_ENST00000366662.4_Missense_Mutation_p.T661I	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	715							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATATAATTGTGTCCTTTCTTC	0.318000													19	125					0	0	0.008871	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940254	70940254	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:70940254G>A	ENST00000359655.4	+	1	267	c.207G>A	c.(205-207)gtG>gtA	p.V69V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	69					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGACTGTGAAACCTCAGG	0.647000													21	95					0	0	0.002780	0	0
RASAL3	64926	broad.mit.edu	37	19	15562677	15562677	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:15562677G>A	ENST00000343625.7	-	18	3050	c.2965C>T	c.(2965-2967)Cca>Tca	p.P989S		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CGCGTCCTTGGAGAAAGCTGC	0.602000													31	24					0	0	0.007291	0	0
NOP2	4839	broad.mit.edu	37	12	6675746	6675746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:6675746T>C	ENST00000541778.1	-	4	675	c.187A>G	c.(187-189)Aag>Gag	p.K63E	NOP2_ENST00000545200.1_Missense_Mutation_p.K63E|NOP2_ENST00000399466.2_Missense_Mutation_p.K63E|NOP2_ENST00000322166.5_Missense_Mutation_p.K63E|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.K63E|NOP2_ENST00000540228.1_Missense_Mutation_p.K63E|NOP2_ENST00000382421.3_Missense_Mutation_p.K63E|NOP2_ENST00000545915.1_Missense_Mutation_p.K63E			P46087	NOP2_HUMAN	NOP2 nucleolar protein	63					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						TTATTTGTCTTAGGGGCTTCA	0.488000													25	34					0	0	0.006320	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213415584	213415584	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:213415584G>A	ENST00000366960.3	+	11	2915	c.2765G>A	c.(2764-2766)aGa>aAa	p.R922K	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.R625K|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.R910K|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.R710K|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	922	Protein kinase 2.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GCTTTACATAGAGAGGGAATT	0.418000													35	69					0	0	0.006230	0	0
NCEH1	57552	broad.mit.edu	37	3	172365740	172365740	+	Silent	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:172365740G>C	ENST00000475381.1	-	2	536	c.303C>G	c.(301-303)ccC>ccG	p.P101P	NCEH1_ENST00000273512.3_Silent_p.P133P|NCEH1_ENST00000543711.1_Intron|NCEH1_ENST00000538775.1_Silent_p.P133P			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	101					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						GTGGCTCTTCGGGCTTCGGAG	0.532000													16	46					0	0	0.004990	0	0
DNAH17	8632	broad.mit.edu	37	17	76430168	76430168	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:76430168T>C	ENST00000389840.5	-	75	12273	c.12149A>G	c.(12148-12150)aAc>aGc	p.N4050S	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.N4051S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAGGTCCCCGTTGTTGAAGGG	0.597000													30	126					0	0	0.013726	0	0
FANCI	55215	broad.mit.edu	37	15	89848417	89848417	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:89848417A>C	ENST00000310775.7	+	29	3216	c.3130A>C	c.(3130-3132)Att>Ctt	p.I1044L	FANCI_ENST00000300027.8_Missense_Mutation_p.I984L	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	1044					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAGTCCTGTCATTCTGCTGCG	0.453000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				24	58					0	0	0.005443	0	0
PPP1R15B	84919	broad.mit.edu	37	1	204379892	204379892	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:204379892G>A	ENST00000367188.4	-	1	1027	c.648C>T	c.(646-648)ttC>ttT	p.F216F	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	216					regulation of translation					breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			ATACCACACTGAAATTGTCTA	0.498000													42	93					0	0	0.008740	0	0
RAB18	22931	broad.mit.edu	37	10	27793340	27793340	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:27793340C>T	ENST00000356940.6	+	1	144	c.42C>T	c.(40-42)atC>atT	p.I14I	RAB18_ENST00000535776.1_Silent_p.I14I|RAB18_ENST00000465772.1_3'UTR|RAB18_ENST00000375802.3_Silent_p.I14I	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	14					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						TCCTCATCATCGGCGAGAGTG	0.682000													5	10					0	0	0.003080	0	0
TPRN	286262	broad.mit.edu	37	9	140093630	140093630	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:140093630G>A	ENST00000409012.4	-	1	1620	c.1534C>T	c.(1534-1536)Ctg>Ttg	p.L512L	TPRN_ENST00000541945.1_Intron|TPRN_ENST00000321773.2_Silent_p.L451L	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	512					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGTCCTGCAGAGTCCCTGGC	0.672000													48	37					0	0	0.014410	0	0
C11orf53	341032	broad.mit.edu	37	11	111154990	111154990	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:111154990G>A	ENST00000280325.4	+	3	344	c.197G>A	c.(196-198)gGa>gAa	p.G66E		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	66										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		GAGCCCTACGGAGACTACCGG	0.697000													44	28					0	0	0.009718	0	0
ADAM9	8754	broad.mit.edu	37	8	38928862	38928862	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:38928862A>G	ENST00000487273.2	+	15	1715	c.1637A>G	c.(1636-1638)aAa>aGa	p.K546R		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	546	Cys-rich.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTGAATTCTAAAGGTGACAGA	0.358000													14	17					0	0	0.004007	0	0
SHQ1	55164	broad.mit.edu	37	3	72799820	72799820	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:72799820G>A	ENST00000325599.8	-	11	1488	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.S422F	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	450	Ser-rich.				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CTCAGAGCTGGAGCAAAGTGT	0.478000													9	6					0	0	0.004482	0	0
NFS1	9054	broad.mit.edu	37	20	34286483	34286483	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:34286483G>A	ENST00000374092.4	-	2	197	c.127C>T	c.(127-129)Ccc>Tcc	p.P43S	NFS1_ENST00000397425.1_5'UTR|NFS1_ENST00000541387.1_Missense_Mutation_p.P43S|NFS1_ENST00000306750.3_Missense_Mutation_p.P43S|NFS1_ENST00000540053.1_5'UTR|NFS1_ENST00000374085.1_5'UTR	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	43					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GTATCTGCGGGAACCGCAGAC	0.542000													15	54					0	0	0.004990	0	0
TRMT13	54482	broad.mit.edu	37	1	100598732	100598732	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:100598732C>G	ENST00000370141.2	+	1	14	c.8C>G	c.(7-9)aCc>aGc	p.T3S	TRMT13_ENST00000370143.1_Missense_Mutation_p.T3S	NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		ATTATGGCGACCTCCGCGACG	0.552000													20	30					0	0	0.003954	0	0
SOWAHC	65124	broad.mit.edu	37	2	110373335	110373335	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:110373335C>T	ENST00000356454.3	+	1	1425	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_023016.3	NP_075392.2	Q53LP3	ANR57_HUMAN	sosondowah ankyrin repeat domain family member C	423																	CCTCGCATCTCATCACCTACA	0.627000													23	38					0	0	0.003954	0	0
RPL22L1	200916	broad.mit.edu	37	3	170584195	170584195	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:170584195C>T	ENST00000295830.8	-	4	658	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	RPL22L1_ENST00000463836.1_Missense_Mutation_p.E114K	NM_001099645.1	NP_001093115.1	Q6P5R6	RL22L_HUMAN	ribosomal protein L22-like 1	115					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			GATTCATCTTCATCTTGACTA	0.393000													4	22					0	0	0.000602	0	0
EEFSEC	60678	broad.mit.edu	37	3	128060247	128060247	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:128060247G>A	ENST00000254730.6	+	5	1012	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	EEFSEC_ENST00000483457.1_Missense_Mutation_p.E265K|EEFSEC_ENST00000483569.1_3'UTR	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	320						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CATCTCTGTGGAAAAGATACC	0.582000													56	254					0	0	0.014410	0	0
ZNF839	55778	broad.mit.edu	37	14	102805205	102805205	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:102805205C>G	ENST00000262236.5	+	6	1719	c.1364C>G	c.(1363-1365)cCa>cGa	p.P455R	ZNF839_ENST00000559185.1_Missense_Mutation_p.P455R|ZNF839_ENST00000442396.2_Missense_Mutation_p.P571R|ZNF839_ENST00000558850.1_Missense_Mutation_p.P455R|ZNF839_ENST00000420933.2_3'UTR	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	455						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAAATACACCCAGACAACCTT	0.502000													5	31					0	0	0.001168	0	0
ATP9A	10079	broad.mit.edu	37	20	50255994	50255994	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:50255994C>T	ENST00000338821.5	-	15	1820	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q	ATP9A_ENST00000311637.5_Missense_Mutation_p.R383Q|ATP9A_ENST00000402822.1_Missense_Mutation_p.R398Q	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	519					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R519Q(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGACTGGTCTCGGCCCACCAG	0.547000											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	40					0	0	0.014323	0	0
PHACTR1	221692	broad.mit.edu	37	6	13206114	13206114	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr6:13206114A>G	ENST00000379350.1	+	7	861	c.732A>G	c.(730-732)aaA>aaG	p.K244K	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000332995.7_Silent_p.K244K|PHACTR1_ENST00000457702.2_Silent_p.K99K			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	244						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CTCCAAAGAAAGTCATGATCT	0.592000													28	33					0	0	0.010818	0	0
CAMLG	819	broad.mit.edu	37	5	134074448	134074448	+	Silent	SNP	G	G	A	rs146867024		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr5:134074448G>A	ENST00000297156.2	+	1	258	c.138G>A	c.(136-138)cgG>cgA	p.R46R	CAMLG_ENST00000514518.1_Silent_p.R46R	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	46					defense response	endoplasmic reticulum|integral to membrane				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	GCATCAACCGGATCATGGGCT	0.637000													5	44					0	0	0.000602	0	0
MTERFD3	80298	broad.mit.edu	37	12	107371523	107371523	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:107371523C>T	ENST00000552029.1	-	2	3038	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	C12orf23_ENST00000551237.1_Intron|MTERFD3_ENST00000392830.2_Missense_Mutation_p.E324K|MTERFD3_ENST00000240050.4_Missense_Mutation_p.E324K			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGTTAATTCAAGAACCATT	0.358000													38	106					0	0	0.006999	0	0
RARA	5914	broad.mit.edu	37	17	38510642	38510642	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:38510642A>G	ENST00000254066.5	+	7	1351	c.896A>G	c.(895-897)aAc>aGc	p.N299S	RARA_ENST00000394081.3_Missense_Mutation_p.N294S|RARA_ENST00000425707.3_Missense_Mutation_p.N202S|RARA_ENST00000420042.1_3'UTR|RARA_ENST00000394089.2_Missense_Mutation_p.N299S|RARA_ENST00000394086.3_Missense_Mutation_p.N315S	NM_000964.3	NP_000955.1	P10276	RARA_HUMAN	retinoic acid receptor, alpha	299	Ligand-binding.				apoptotic cell clearance|cellular response to estrogen stimulus|cellular response to retinoic acid|estrogen receptor signaling pathway|negative regulation of granulocyte differentiation|negative regulation of interferon-gamma production|negative regulation of tumor necrosis factor production|positive regulation of binding|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-5 production|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	cytoplasm|nucleoplasm	chromatin DNA binding|enzyme binding|protein domain specific binding|protein heterodimerization activity|receptor binding|retinoic acid binding|retinoic acid receptor activity|retinoic acid-responsive element binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(1)|kidney(4)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|urinary_tract(2)	16		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00143)		Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Isotretinoin(DB00982)|Tamibarotene(DB04942)|Tazarotene(DB00799)	CAGATGCACAACGCTGGCTTC	0.652000			T	"""PML, ZNF145, TIF1, NUMA1, NPM1"""	APL								15	71					0	0	0.003163	0	0
AFG3L2	10939	broad.mit.edu	37	18	12337383	12337383	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr18:12337383C>G	ENST00000269143.3	-	16	2363	c.2132G>C	c.(2131-2133)aGa>aCa	p.R711T		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	711					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	p.R711I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	AGCTACTGTTCTTTTATAAGC	0.393000													22	38					0	0	0.003330	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													5	41					0	0	0.001168	0	0
MYH7	4625	broad.mit.edu	37	14	23887505	23887505	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652000													4	99					0	0	0.000602	0	0
TTF2	8458	broad.mit.edu	37	1	117629135	117629135	+	Silent	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:117629135C>G	ENST00000369466.4	+	12	2195	c.2151C>G	c.(2149-2151)ctC>ctG	p.L717L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	p.L717L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GTGCAAACCTCAATGTGGAGG	0.537000													8	13					0	0	0.004482	0	0
SLC25A24	29957	broad.mit.edu	37	1	108742614	108742614	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:108742614C>T	ENST00000565488.1	-	1	366	c.147G>A	c.(145-147)agG>agA	p.R49R	SLC25A24_ENST00000569674.1_Silent_p.R49R|RP11-483I13.5_ENST00000564063.1_RNA	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	49	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TGCCCAGGTTCCTGAGCCCCT	0.721000													8	25					0	0	0.008291	0	0
WDR44	54521	broad.mit.edu	37	X	117543582	117543582	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:117543582A>G	ENST00000254029.3	+	11	2059	c.1664A>G	c.(1663-1665)aAt>aGt	p.N555S	WDR44_ENST00000371825.3_Missense_Mutation_p.N555S|WDR44_ENST00000371822.5_Missense_Mutation_p.N530S	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	555						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATGAAATACAATACTGAAGGT	0.348000													19	41					0	0	0.007413	0	0
WWP1	11059	broad.mit.edu	37	8	87442959	87442959	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:87442959G>T	ENST00000517970.1	+	12	1673	c.1366G>T	c.(1366-1368)Gga>Tga	p.G456*	WWP1_ENST00000265428.4_Nonsense_Mutation_p.G456*|WWP1_ENST00000349423.2_Nonsense_Mutation_p.G238*|WWP1_ENST00000341922.2_Nonsense_Mutation_p.G326*	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	456	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGACCCTTATGGACCTTTGCC	0.313000													11	50					4.3838e-07	4.58405e-07	0.001855	1	0
CLPTM1	1209	broad.mit.edu	37	19	45477816	45477816	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:45477816G>A	ENST00000541297.2	+	4	853	c.388G>A	c.(388-390)Ggc>Agc	p.G130S	CLPTM1_ENST00000337392.5_Missense_Mutation_p.G144S|CLPTM1_ENST00000546079.1_Missense_Mutation_p.G42S			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	144					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GAACTCAGACGGCTGCTACGA	0.572000													32	27					0	0	0.013726	0	0
BAZ2B	29994	broad.mit.edu	37	2	160257124	160257124	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:160257124G>A	ENST00000392783.2	-	17	3379	c.2884C>T	c.(2884-2886)Cag>Tag	p.Q962*	AC008277.1_ENST00000420020.1_RNA|BAZ2B_ENST00000355831.2_Nonsense_Mutation_p.Q928*|BAZ2B_ENST00000343439.5_Nonsense_Mutation_p.Q862*|BAZ2B_ENST00000392782.1_Nonsense_Mutation_p.Q926*|AC008277.1_ENST00000594921.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	962	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AGAATTTGCTGAGCTCGAAGT	0.264000													7	15					0	0	0.001984	0	0
AMOTL1	154810	broad.mit.edu	37	11	94554952	94554952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:94554952C>T	ENST00000433060.2	+	4	1519	c.1378C>T	c.(1378-1380)Cag>Tag	p.Q460*	AMOTL1_ENST00000317829.8_Nonsense_Mutation_p.Q410*|AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Silent_p.F393F	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	460				LQ -> HE (in Ref. 2; AAH14126).		cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCAGGAACTTCAGGGTTACTA	0.537000													27	33					0	0	0.012213	0	0
DLEC1	9940	broad.mit.edu	37	3	38157986	38157986	+	Missense_Mutation	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:38157986A>G	ENST00000308059.6	+	28	3920	c.3899A>G	c.(3898-3900)gAa>gGa	p.E1300G	DLEC1_ENST00000346219.3_Missense_Mutation_p.E1300G|DLEC1_ENST00000452631.2_Missense_Mutation_p.E1303G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1300					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GAAGACAAGGAAGACCGGCTG	0.607000													18	50					0	0	0.004656	0	0
SEC23IP	11196	broad.mit.edu	37	10	121671610	121671610	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:121671610G>A	ENST00000369075.3	+	6	1318	c.1246G>A	c.(1246-1248)Gat>Aat	p.D416N	SEC23IP_ENST00000543134.1_Missense_Mutation_p.D205N	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	416					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CACCACGCAAGATGGACAGAC	0.433000													42	63					0	0	0.008740	0	0
COL17A1	1308	broad.mit.edu	37	10	105802183	105802183	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:105802183T>C	ENST00000353479.5	-	36	2836	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	COL17A1_ENST00000369733.3_Missense_Mutation_p.H849R	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	849	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CATACCTTGATGTCCTGGGAG	0.537000													8	40					0	0	0.006214	0	0
WBSCR27	155368	broad.mit.edu	37	7	73255423	73255423	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:73255423C>T	ENST00000297873.4	-	3	278	c.229G>A	c.(229-231)Ggc>Agc	p.G77S		NM_152559.2	NP_689772.2	Q8N6F8	WBS27_HUMAN	Williams Beuren syndrome chromosome region 27	77										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				AGGCCTGTGCCACAGGCCACG	0.662000													5	13					0	0	0.000602	0	0
HERC2P3	283755	broad.mit.edu	37	15	20643977	20643977	+	RNA	SNP	G	G	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:20643977G>T	ENST00000428453.1	-	0	3482																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGCCGCCCAGGCACAGGCGAC	0.582000													5	26					2.17888e-05	2.26721e-05	0.006214	1	0
CYP3A4	1576	broad.mit.edu	37	7	99359668	99359668	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:99359668C>G	ENST00000354593.2	-	6	902	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E417Q			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	417					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTGTACCTTTCAGGGAGGAAC	0.507000													25	91					0	0	0.006320	0	0
HOXC5	3222	broad.mit.edu	37	12	54428131	54428131	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:54428131A>T	ENST00000312492.2	+	2	794	c.524A>T	c.(523-525)cAc>cTc	p.H175L	RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.H79L|RP11-834C11.14_ENST00000512206.1_RNA|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	175					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AAAGAATTCCACTTTAACCGC	0.537000													47	76					0	0	0.014410	0	0
CACNA2D4	93589	broad.mit.edu	37	12	2017134	2017134	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:2017134C>T	ENST00000382722.5	-	5	918	c.556G>A	c.(556-558)Gag>Aag	p.E186K	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E122K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E186K|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E122K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	186						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGGAGGAACTCGGCGCCCAGC	0.602000													20	42					0	0	0.010504	0	0
PLXDC2	84898	broad.mit.edu	37	10	20453444	20453444	+	Missense_Mutation	SNP	A	A	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:20453444A>T	ENST00000377252.4	+	7	1672	c.831A>T	c.(829-831)aaA>aaT	p.K277N	PLXDC2_ENST00000377242.3_Missense_Mutation_p.K228N|PLXDC2_ENST00000377238.2_3'UTR	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ATCCAGTGAAAGTCGGACTGT	0.443000													4	43					0	0	0.009096	0	0
TACC2	10579	broad.mit.edu	37	10	123845111	123845111	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:123845111G>A	ENST00000369005.1	+	4	3436	c.3096G>A	c.(3094-3096)aaG>aaA	p.K1032K	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Silent_p.K1032K|TACC2_ENST00000515603.1_Silent_p.K1032K|TACC2_ENST00000515273.1_Silent_p.K1032K|TACC2_ENST00000334433.3_Silent_p.K1032K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1032						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCTTGAGTAAGAGGGAGATGG	0.582000													7	47					0	0	0.001984	0	0
ESF1	51575	broad.mit.edu	37	20	13756530	13756530	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:13756530G>A	ENST00000202816.1	-	3	1131	c.1024C>T	c.(1024-1026)Cgt>Tgt	p.R342C		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm				endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						TCATCAGCACGAGGAGCATCT	0.368000													33	41					0	0	0.009535	0	0
FER1L6	654463	broad.mit.edu	37	8	124975540	124975540	+	Silent	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:124975540A>C	ENST00000522917.1	+	3	305	c.99A>C	c.(97-99)gcA>gcC	p.A33A	FER1L6_ENST00000399018.1_Silent_p.A33A	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	33						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACACTGAAGCACTGCAGGAGG	0.493000													19	99					0	0	0.008871	0	0
PDS5B	23047	broad.mit.edu	37	13	33327664	33327664	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:33327664A>G	ENST00000315596.10	+	25	3117	c.2931A>G	c.(2929-2931)gcA>gcG	p.A977A		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	977					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AGCAGCATGCAGCTGTTAGTG	0.363000													3	28					0	0	0.004672	0	0
RHOV	171177	broad.mit.edu	37	15	41165414	41165414	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:41165414C>T	ENST00000220507.4	-	3	702	c.553G>A	c.(553-555)Gag>Aag	p.E185K		NM_133639.3	NP_598378.3	Q96L33	RHOV_HUMAN	ras homolog family member V	185					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome membrane|plasma membrane	GTP binding|metal ion binding			central_nervous_system(1)|large_intestine(1)	2		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GCTGAGCACTCAAGGTAGCAG	0.577000													27	71					0	0	0.006320	0	0
TMPO	7112	broad.mit.edu	37	12	98926711	98926711	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:98926711G>A	ENST00000266732.4	+	4	914	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0	NAKAP95-binding N.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTCTTTTCCTGAAATCTCCAC	0.458000													39	71					0	0	0.006999	0	0
PREB	10113	broad.mit.edu	37	2	27355129	27355129	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:27355129C>T	ENST00000260643.2	-	6	1148	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	299					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCATGGCCACAGGACTTG	0.612000													15	136					0	0	0.003163	0	0
SP140L	93349	broad.mit.edu	37	2	231222548	231222548	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:231222548G>A	ENST00000243810.6	+	3	136	c.136G>A	c.(136-138)Gag>Aag	p.E46K	SP140L_ENST00000444636.1_Missense_Mutation_p.E46K|SP140L_ENST00000458341.1_5'UTR|SP140L_ENST00000415673.2_Missense_Mutation_p.E46K|SP140L_ENST00000396563.4_Missense_Mutation_p.E46K|SP140_ENST00000486687.2_Silent_p.*769*			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	46	HSR.					nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						GGATGTAGATGAGGGACTTGT	0.398000													27	188					0	0	0.009535	0	0
CTCF	10664	broad.mit.edu	37	16	67650746	67650746	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:67650746T>C	ENST00000264010.4	+	5	1495	c.1051T>C	c.(1051-1053)Ttc>Ctc	p.F351L	CTCF_ENST00000401394.1_Missense_Mutation_p.F23L	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	351					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		CGAGAAGCCATTCAAGTGTTC	0.468000													31	143					0	0	0.013726	0	0
HPS6	79803	broad.mit.edu	37	10	103825676	103825676	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:103825676G>A	ENST00000299238.5	+	1	530	c.445G>A	c.(445-447)Gag>Aag	p.E149K		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	149						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GGCCCGGGCCGAGGGCCCGTC	0.736000									Hermansky-Pudlak syndrome				4	6					0	0	0.000602	0	0
HOXB8	3218	broad.mit.edu	37	17	46690570	46690570	+	Silent	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:46690570C>T	ENST00000239144.4	-	2	960	c.726G>A	c.(724-726)aaG>aaA	p.K242K	HOXB8_ENST00000576562.1_Silent_p.K241K|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						AAGCCTACTTCTTGTCGCCCT	0.731000													16	83					0	0	0.007413	0	0
ZFP91	80829	broad.mit.edu	37	11	58384283	58384283	+	Silent	SNP	A	A	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:58384283A>G	ENST00000316059.6	+	10	1368	c.1197A>G	c.(1195-1197)ccA>ccG	p.P399P	ZFP91-CNTF_ENST00000389919.4_Silent_p.P399P	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	399					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCGAGAAGCCATTACAGTGAG	0.438000													9	35					0	0	0.006214	0	0
COL4A3	1285	broad.mit.edu	37	2	228137702	228137702	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:228137702G>C	ENST00000396578.3	+	26	1958	c.1796G>C	c.(1795-1797)gGg>gCg	p.G599A	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	599	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGTCCTCCAGGGGATCCTGGC	0.557000													26	44					0	0	0.005443	0	0
SHOC2	8036	broad.mit.edu	37	10	112771502	112771502	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:112771502C>G	ENST00000369452.4	+	9	2020	c.1675C>G	c.(1675-1677)Cag>Gag	p.Q559E	SHOC2_ENST00000265277.5_Missense_Mutation_p.Q513E	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	559					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		CCTTCCACCTCAGATTGTTGC	0.488000													36	58					0	0	0.005524	0	0
ZNF148	7707	broad.mit.edu	37	3	124952081	124952081	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:124952081G>A	ENST00000360647.4	-	9	1974	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*	ZNF148_ENST00000492394.1_Nonsense_Mutation_p.Q497*|ZNF148_ENST00000484491.1_Nonsense_Mutation_p.Q497*|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Nonsense_Mutation_p.Q497*|ZNF148_ENST00000544464.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	497					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ACAGAAGGCTGAGAAGCTATG	0.438000													192	83					0	0	0.014410	0	0
AKAP13	11214	broad.mit.edu	37	15	86087161	86087161	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:86087161C>T	ENST00000394518.2	+	5	732	c.637C>T	c.(637-639)Cac>Tac	p.H213Y	AKAP13_ENST00000361243.2_Missense_Mutation_p.H213Y	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	213					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCGAGGCTATCACAAGCTGCA	0.587000													12	40					0	0	0.002450	0	0
OR1B1	347169	broad.mit.edu	37	9	125391656	125391656	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:125391656C>T	ENST00000304833.3	-	1	196	c.159G>A	c.(157-159)tgG>tgA	p.W53*	RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA	NM_001004450.1	NP_001004450.1	Q8NGR6	OR1B1_HUMAN	olfactory receptor, family 1, subfamily B, member 1	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GTCTGGAGTCCCAGGAGATGA	0.522000													17	12					0	0	0.006122	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220818	20220818	+	Missense_Mutation	SNP	G	G	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr13:20220818G>C	ENST00000361479.5	+	3	673	c.605G>C	c.(604-606)aGa>aCa	p.R202T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R202T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	202	Lys-rich.				cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ACAAAGAAAAGAATTTCTGAA	0.338000													8	26					0	0	0.003080	0	0
N4BP2	55728	broad.mit.edu	37	4	40104102	40104102	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr4:40104102A>C	ENST00000261435.6	+	4	1053	c.637A>C	c.(637-639)Aac>Cac	p.N213H		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	213						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTTAAGTTTAAACCCATTACC	0.328000													10	19					0	0	0.006214	0	0
UBP1	7342	broad.mit.edu	37	3	33434926	33434926	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:33434926C>T	ENST00000283629.3	-	14	1940	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	UBP1_ENST00000283628.5_Missense_Mutation_p.E471K|UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.E435K	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	471					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATCATTTCTTCCAAGTAGATT	0.368000													12	32					0	0	0.013537	0	0
NLRC5	84166	broad.mit.edu	37	16	57062059	57062059	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:57062059G>A	ENST00000436936.1	+	7	2376	c.2151G>A	c.(2149-2151)caG>caA	p.Q717Q	NLRC5_ENST00000308149.7_Silent_p.Q717Q|NLRC5_ENST00000539144.1_Silent_p.Q717Q|NLRC5_ENST00000262510.6_Silent_p.Q717Q			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	717					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GGAGGCTGCAGATGCTGGGGT	0.562000													6	26					0	0	0.001984	0	0
MAP3K2	10746	broad.mit.edu	37	2	128093472	128093472	+	Missense_Mutation	SNP	T	T	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:128093472T>C	ENST00000409947.1	-	5	520	c.238A>G	c.(238-240)Atg>Gtg	p.M80V	MAP3K2_ENST00000344908.5_Missense_Mutation_p.M80V			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	80	OPR.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		TGTAGATCCATAGACTGTCCA	0.323000													3	4					0	0	0.009096	0	0
RBM45	129831	broad.mit.edu	37	2	178977522	178977522	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:178977522G>A	ENST00000286070.5	+	1	341	c.249G>A	c.(247-249)atG>atA	p.M83I		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	83	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCAGGGCCATGGAGGAGATGC	0.647000													25	58					0	0	0.006320	0	0
PTPRT	11122	broad.mit.edu	37	20	41420011	41420011	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:41420011C>T	ENST00000373198.4	-	3	545	c.310G>A	c.(310-312)Gac>Aac	p.D104N	PTPRT_ENST00000373193.3_Missense_Mutation_p.D104N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D104N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D104N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D104N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TAATGGAAGTCGATGCAGTGG	0.567000													12	25					0	0	0.013537	0	0
IFT140	9742	broad.mit.edu	37	16	1576661	1576661	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr16:1576661C>G	ENST00000426508.2	-	20	2899	c.2536G>C	c.(2536-2538)Gag>Cag	p.E846Q	IFT140_ENST00000361339.5_Missense_Mutation_p.E40Q	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	846										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACGCGGGCCTCTAGCTCCGGC	0.741000													5	10					0	0	0.001984	0	0
ZNF418	147686	broad.mit.edu	37	19	58441801	58441801	+	Missense_Mutation	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:58441801G>A	ENST00000396147.1	-	3	419	c.128C>T	c.(127-129)tCc>tTc	p.S43F	ZNF418_ENST00000600989.1_Missense_Mutation_p.S43F|ZNF418_ENST00000595830.1_Missense_Mutation_p.S43F|ZNF418_ENST00000599852.1_Intron|ZNF418_ENST00000425570.3_Missense_Mutation_p.S64F	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		CTTACCCAGGGAGGATATAAG	0.488000													70	47					0	0	0.014410	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473945	99473945	+	Missense_Mutation	SNP	C	C	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:99473945C>G	ENST00000316368.2	-	1	735	c.712G>C	c.(712-714)Gcc>Ccc	p.A238P		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCACAAGTGGCAAAGGCATTT	0.498000													8	35					0	0	0.004482	0	0
CHRD	8646	broad.mit.edu	37	3	184099561	184099561	+	Missense_Mutation	SNP	C	C	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:184099561C>T	ENST00000204604.1	+	5	815	c.569C>T	c.(568-570)tCg>tTg	p.S190L	CHRD_ENST00000348986.3_Missense_Mutation_p.S190L|CHRD_ENST00000482805.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.S190L	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	190	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCGAGTCTCGCTGCTGCGC	0.662000													13	26					0	0	0.002450	0	0
DNAH10	196385	broad.mit.edu	37	12	124311275	124311275	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:124311275G>A	ENST00000409039.3	+	24	3892	c.3867G>A	c.(3865-3867)ctG>ctA	p.L1289L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1289	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		GGATCAACCTGAATGTGCAGA	0.478000													38	85					0	0	0.004878	0	0
ZFP37	7539	broad.mit.edu	37	9	115805712	115805712	+	Missense_Mutation	SNP	C	C	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr9:115805712C>A	ENST00000374227.3	-	4	1213	c.1186G>T	c.(1186-1188)Gtg>Ttg	p.V396L	ZFP37_ENST00000553380.1_Missense_Mutation_p.V411L|ZFP37_ENST00000555206.1_Missense_Mutation_p.V397L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	396						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGAGATCTCACATGTTGAATA	0.413000													47	34					5.7616e-29	6.24051e-29	0.014410	1	0
TMC3	342125	broad.mit.edu	37	15	81636366	81636366	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:81636366G>A	ENST00000558726.1	-	14	1677	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Silent_p.I513I			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	513						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GCATGTCAATGATGGAGAGCT	0.537000													8	32					0	0	0.004482	0	0
FBXL6	26233	broad.mit.edu	37	8	145580113	145580113	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr8:145580113G>A	ENST00000331890.5	-	7	1136	c.1072C>T	c.(1072-1074)Cta>Tta	p.L358L	FBXL6_ENST00000455319.2_Silent_p.L352L|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	358					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTCCTCTAGGCTAGGGAAG	0.642000													14	66					0	0	0.002450	0	0
PHF20	51230	broad.mit.edu	37	20	34459579	34459579	+	Silent	SNP	G	G	A			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr20:34459579G>A	ENST00000374012.3	+	9	1239	c.1110G>A	c.(1108-1110)ttG>ttA	p.L370L	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TAGGTCAGTTGAAGTCTGCTT	0.453000													57	72					0	0	0.014410	0	0
DENND5B	160518	broad.mit.edu	37	12	31595714	31595714	+	Missense_Mutation	SNP	A	A	C			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:31595714A>C	ENST00000389082.5	-	7	2271	c.2007T>G	c.(2005-2007)agT>agG	p.S669R	DENND5B_ENST00000536562.1_Missense_Mutation_p.S704R|DENND5B_ENST00000354285.4_Missense_Mutation_p.S691R|DENND5B_ENST00000306833.6_Missense_Mutation_p.S704R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	669						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTTACTTGTTACTGGTTGGTC	0.418000													6	20					0	0	0.001984	0	0
RPL4	6124	broad.mit.edu	37	15	66792429	66792429	+	Missense_Mutation	SNP	T	T	C	rs139349583		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr15:66792429T>C	ENST00000307961.6	-	9	1095	c.1003A>G	c.(1003-1005)Atg>Gtg	p.M335V	RPL4_ENST00000568588.1_Missense_Mutation_p.M241V	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	335					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCCGGCGCATGGTCTTTGCA	0.448000													11	31					0	0	0.010729	0	0
INSRR	3645	broad.mit.edu	37	1	156818798	156818798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr1:156818798delC	ENST00000368195.3	-	7	1882	c.1486delG	c.(1486-1488)gcafs	p.A496fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	496	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGCGGTCTGCCTCCGTCACG	0.682													22	26	---	---	---	---					
ZNF513	130557	broad.mit.edu	37	2	27601758	27601758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:27601758delC	ENST00000323703.6	-	3	573	c.375delG	c.(373-375)gggfs	p.G125fs	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Frame_Shift_Del_p.G63fs	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	125	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCGGCCCCCCACACA	0.706													6	9	---	---	---	---					
COL6A3	1293	broad.mit.edu	37	2	238277474	238277475	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr2:238277474_238277475delCA	ENST00000295550.4	-	10	5083_5084	c.4631_4632delTG	c.(4630-4632)ctgfs	p.L1544fs	COL6A3_ENST00000347401.3_Frame_Shift_Del_p.L1343fs|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.L1344fs|COL6A3_ENST00000472056.1_Frame_Shift_Del_p.L937fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.L1338fs|COL6A3_ENST00000353578.4_Frame_Shift_Del_p.L1338fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1544	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCAGGACCAGGTGTTGGGG	0.569													23	125	---	---	---	---					
ULK4	54986	broad.mit.edu	37	3	41860995	41860995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:41860995delC	ENST00000301831.4	-	19	2230	c.1768delG	c.(1768-1770)gaafs	p.E590fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	590							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTTTTTTTTCTTCCTAAAAT	0.438													24	82	---	---	---	---					
MINA	84864	broad.mit.edu	37	3	97686358	97686359	+	In_Frame_Ins	INS	-	-	CTGCTT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr3:97686358_97686359insCTGCTT	ENST00000333396.7	-	2	661_662	c.79_80insAAGCAG	c.(79-81)gct>gAAGCAGct	p.26_27insEA	MINA_ENST00000394198.2_In_Frame_Ins_p.26_27insEA|MINA_ENST00000360258.4_In_Frame_Ins_p.26_27insEA|MINA_ENST00000330299.2_In_Frame_Ins_p.26_27insEA	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						AGGCCCCCCAGCTGCTTCTAAC	0.480													9	71	---	---	---	---					
NFE2L3	9603	broad.mit.edu	37	7	26223328	26223340	+	Frame_Shift_Del	DEL	TGAATGGGACAGA	TGAATGGGACAGA	-	rs150480522		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:26223328_26223340delTGAATGGGACAGA	ENST00000056233.3	+	3	1017_1029	c.758_770delTGAATGGGACAGA	c.(757-771)ctgaatgggacagatfs	p.LNGTD253fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	253					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGAGACATCTGAATGGGACAGATACTTCTTTC	0.394													11	69	---	---	---	---					
SFRP4	6424	broad.mit.edu	37	7	37947153	37947153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr7:37947153delG	ENST00000436072.2	-	6	1346	c.969delC	c.(967-969)cccfs	p.P323fs	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	323					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGCTGGTTTGGGAGCAGGAG	0.512													45	121	---	---	---	---					
CCNY	219771	broad.mit.edu	37	10	35842099	35842100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:35842099_35842100delCA	ENST00000374704.4	+	8	912_913	c.732_733delCA	c.(730-735)atcacgfs	p.T245fs	CCNY_ENST00000374706.1_Frame_Shift_Del_p.T191fs|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Frame_Shift_Del_p.T220fs|CCNY_ENST00000265375.9_Frame_Shift_Del_p.T191fs	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	245	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGAAAGACATCACGGTGGAGGA	0.515													23	58	---	---	---	---					
P4HA1	5033	broad.mit.edu	37	10	74813169	74813169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr10:74813169delC	ENST00000412021.2	-	7	976	c.643delG	c.(643-645)gtafs	p.V215fs	P4HA1_ENST00000263556.3_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000307116.2_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000440381.1_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000394890.2_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000373008.2_Frame_Shift_Del_p.V215fs	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	215						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTGATATACCGCATAGCTC	0.413													14	68	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118359411	118359411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr11:118359411delA	ENST00000534358.1	+	11	4438	c.4415delA	c.(4414-4416)gaafs	p.E1472fs	KMT2A_ENST00000389506.5_Frame_Shift_Del_p.E1472fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.E1434fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GACCAGCTGGAAAATTGGTGT	0.463													24	28	---	---	---	---					
NTS	4922	broad.mit.edu	37	12	86276100	86276112	+	Frame_Shift_Del	DEL	GAGAATAAACCCA	GAGAATAAACCCA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr12:86276100_86276112delGAGAATAAACCCA	ENST00000256010.6	+	4	567_579	c.460_472delGAGAATAAACCCA	c.(460-474)gagaataaacccagafs	p.ENKPR154fs	NTS_ENST00000551529.1_Frame_Shift_Del_p.ENKPR79fs	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	154					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	p.E154D(1)		large_intestine(2)|lung(6)	8						GCAGCTGTATGAGAATAAACCCAGAAGACCCTA	0.310													10	86	---	---	---	---					
EFCAB5	374786	broad.mit.edu	37	17	28384744	28384759	+	Frame_Shift_Del	DEL	AGAACTGCCTTCAATG	AGAACTGCCTTCAATG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:28384744_28384759delAGAACTGCCTTCAATG	ENST00000394835.3	+	13	2608_2623	c.2416_2431delAGAACTGCCTTCAATG	c.(2416-2433)agaactgccttcaatggafs	p.RTAFNG806fs	EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.RTAFNG806fs|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.RTAFNG806fs|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000541045.1_Frame_Shift_Del_p.RTAFNG463fs|EFCAB5_ENST00000536908.2_Frame_Shift_Del_p.RTAFNG750fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	806							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTAAAAGGCAGAACTGCCTTCAATGGAGTTTCATT	0.403													10	58	---	---	---	---					
SOCS7	30837	broad.mit.edu	37	17	36551570	36551570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:36551570delC	ENST00000577233.1	+	8	1498	c.1498delC	c.(1498-1500)ccafs	p.P500fs	SOCS7_ENST00000331159.5_Frame_Shift_Del_p.P466fs	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	500	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGGACTGCCACCAACTCCTGT	0.468													13	31	---	---	---	---					
ITGA2B	3674	broad.mit.edu	37	17	42462950	42462957	+	Frame_Shift_Del	DEL	GGTGTTCC	GGTGTTCC	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr17:42462950_42462957delGGTGTTCC	ENST00000262407.5	-	4	567_574	c.536_543delGGAACACC	c.(535-543)gggaacaccfs	p.GNT179fs	ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.GNT179fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	179					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGCGGCTCAGGGTGTTCCCGCGACAGGG	0.635													7	8	---	---	---	---					
SYDE1	85360	broad.mit.edu	37	19	15223296	15223296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:15223296delC	ENST00000600252.1	+	4	2331	c.689delC	c.(688-690)gccfs	p.A230fs	SYDE1_ENST00000600440.1_Frame_Shift_Del_p.A506fs|SYDE1_ENST00000342784.2_Frame_Shift_Del_p.A573fs			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	573					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGGCCTCGTGCCCGCAGCTCC	0.647													12	14	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41808719	41808745	+	In_Frame_Del	DEL	GGTGGTGGTGGCTTCCGGGGCCGCGGG	GGTGGTGGTGGCTTCCGGGGCCGCGGG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr19:41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG	ENST00000392006.3	+	12	2010_2036	c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG	c.(1837-1863)ggtggtggtggcttccggggccgcgggdel	p.GGGGFRGRG613del	HNRNPUL1_ENST00000595018.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000602130.1_In_Frame_Del_p.GGGGFRGRG613del|HNRNPUL1_ENST00000352456.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000263367.3_In_Frame_Del_p.GGGGFRGRG524del|HNRNPUL1_ENST00000378215.4_In_Frame_Del_p.GGGGFRGRG499del|HNRNPUL1_ENST00000593587.1_In_Frame_Del_p.GGGGFRGRG513del	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	613	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGACAACCGAGGTGGTGGTGGCTTCCGGGGCCGCGGGGGTGGTGGTG	0.652													10	47	---	---	---	---					
C21orf62	56245	broad.mit.edu	37	21	34166204	34166206	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr21:34166204_34166206delTGT	ENST00000536776.1	-	2	667_669	c.527_529delACA	c.(526-531)aacagg>agg	p.N176del	C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000479548.1_In_Frame_Del_p.N176del|C21orf62_ENST00000490358.1_In_Frame_Del_p.N176del|C21orf62_ENST00000487113.1_In_Frame_Del_p.N176del	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	176										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GCTGAGTCCCTGTTGAAAAGAGC	0.429													18	38	---	---	---	---					
RTCB	51493	broad.mit.edu	37	22	32797844	32797858	+	In_Frame_Del	DEL	GGTTCTTAGCAAGCG	GGTTCTTAGCAAGCG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:32797844_32797858delGGTTCTTAGCAAGCG	ENST00000216038.5	-	5	471_485	c.373_387delCGCTTGCTAAGAACC	c.(373-387)cgcttgctaagaaccdel	p.RLLRT125del	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_In_Frame_Del_p.RLLRT125del	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATCTAAATTGGTTCTTAGCAAGCGGACACCACAG	0.465													10	36	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50719219	50719220	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chr22:50719219_50719220insG	ENST00000449103.1	-	24	4086_4087	c.3946_3947insC	c.(3946-3948)ctcfs	p.L1316fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.L1316fs			O15031	PLXB2_HUMAN	plexin B2	1316					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGTAGAGGGCCTGCTCC	0.653													9	36	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41047370	41047371	+	Splice_Site	INS	-	-	GT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	9e1dc9d9-4f0f-4083-92d2-4ddf816088ef	g.chrX:41047370_41047371insGT	ENST00000324545.8	+	25	4443	c.3810_3810insGT	c.(3811-3813)acc>acGTc	p.T1271fs	USP9X_ENST00000378308.2_Splice_Site_p.T1271fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTATGAGAAGGTAAGAATTAT	0.297													19	14	---	---	---	---					
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329					NR_104189.1																						ATTTCGCCCTCCACCGCCGCCGC	0.631													4	9	---	---	---	---					
INSRR	3645	broad.mit.edu	37	1	156818798	156818798	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr1:156818798delC	ENST00000368195.3	-	7	1882	c.1486delG	c.(1486-1488)gcafs	p.A496fs	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	496	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATGCGGTCTGCCTCCGTCACG	0.682													22	26	---	---	---	---					
ZNF513	130557	broad.mit.edu	37	2	27601758	27601758	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:27601758delC	ENST00000323703.6	-	3	573	c.375delG	c.(373-375)gggfs	p.G125fs	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Frame_Shift_Del_p.G63fs	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	125	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGTCGGCCCCCCACACA	0.706													6	9	---	---	---	---					
COL6A3	1293	broad.mit.edu	37	2	238277474	238277475	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr2:238277474_238277475delCA	ENST00000295550.4	-	10	5083_5084	c.4631_4632delTG	c.(4630-4632)ctgfs	p.L1544fs	COL6A3_ENST00000353578.4_Frame_Shift_Del_p.L1338fs|COL6A3_ENST00000472056.1_Frame_Shift_Del_p.L937fs|COL6A3_ENST00000346358.4_Frame_Shift_Del_p.L1344fs|COL6A3_ENST00000347401.3_Frame_Shift_Del_p.L1343fs|COL6A3_ENST00000409809.1_Frame_Shift_Del_p.L1338fs	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1544	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGACCAGGACCAGGTGTTGGGG	0.569													23	125	---	---	---	---					
ULK4	54986	broad.mit.edu	37	3	41860995	41860995	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:41860995delC	ENST00000301831.4	-	19	2230	c.1768delG	c.(1768-1770)gaafs	p.E590fs		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	590							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTTTTTTTTTCTTCCTAAAAT	0.438													24	82	---	---	---	---					
MINA	84864	broad.mit.edu	37	3	97686358	97686359	+	In_Frame_Ins	INS	-	-	CTGCTT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr3:97686358_97686359insCTGCTT	ENST00000333396.7	-	2	661_662	c.79_80insAAGCAG	c.(79-81)gct>gAAGCAGct	p.26_27insEA	MINA_ENST00000330299.2_In_Frame_Ins_p.26_27insEA|MINA_ENST00000394198.2_In_Frame_Ins_p.26_27insEA|MINA_ENST00000360258.4_In_Frame_Ins_p.26_27insEA	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						AGGCCCCCCAGCTGCTTCTAAC	0.480													9	71	---	---	---	---					
NFE2L3	9603	broad.mit.edu	37	7	26223328	26223340	+	Frame_Shift_Del	DEL	TGAATGGGACAGA	TGAATGGGACAGA	-	rs150480522		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:26223328_26223340delTGAATGGGACAGA	ENST00000056233.3	+	3	1017_1029	c.758_770delTGAATGGGACAGA	c.(757-771)ctgaatgggacagatfs	p.LNGTD253fs		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	253					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						CAGAGACATCTGAATGGGACAGATACTTCTTTC	0.394													11	69	---	---	---	---					
SFRP4	6424	broad.mit.edu	37	7	37947153	37947153	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:37947153delG	ENST00000436072.2	-	6	1346	c.969delC	c.(967-969)cccfs	p.P323fs	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	323					brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGGCTGGTTTGGGAGCAGGAG	0.512													45	121	---	---	---	---					
STEAP2	261729	broad.mit.edu	37	7	89856464	89856465	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr7:89856464_89856465insT	ENST00000287908.3	+	3	1065_1066	c.672_673insT	c.(673-675)tttfs	p.F225fs	STEAP2_ENST00000394632.1_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000402625.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394621.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394622.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394629.2_Frame_Shift_Ins_p.F225fs|STEAP2_ENST00000394626.1_Frame_Shift_Ins_p.F225fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	225					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCTTGGCCACATTTTTTTTCCT	0.391													30	34	---	---	---	---					
CCNY	219771	broad.mit.edu	37	10	35842099	35842100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:35842099_35842100delCA	ENST00000374704.4	+	8	912_913	c.732_733delCA	c.(730-735)atcacgfs	p.T245fs	CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Frame_Shift_Del_p.T220fs|CCNY_ENST00000374706.1_Frame_Shift_Del_p.T191fs|CCNY_ENST00000265375.9_Frame_Shift_Del_p.T191fs	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	245	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TGAAAGACATCACGGTGGAGGA	0.515													23	58	---	---	---	---					
P4HA1	5033	broad.mit.edu	37	10	74813169	74813169	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr10:74813169delC	ENST00000412021.2	-	7	976	c.643delG	c.(643-645)gtafs	p.V215fs	P4HA1_ENST00000394890.2_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000263556.3_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000373008.2_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000440381.1_Frame_Shift_Del_p.V215fs|P4HA1_ENST00000307116.2_Frame_Shift_Del_p.V215fs	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	215						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGCTGATATACCGCATAGCTC	0.413													14	68	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:102738795_102738796insT	ENST00000532855.1	-	0	725_726							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.N211fs*20(2)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGGAACAAGTGGTGCCTAAGAA	0.416													4	7	---	---	---	---					
KMT2A	4297	broad.mit.edu	37	11	118359411	118359411	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr11:118359411delA	ENST00000534358.1	+	11	4438	c.4415delA	c.(4414-4416)gaafs	p.E1472fs	KMT2A_ENST00000389506.5_Frame_Shift_Del_p.E1472fs|KMT2A_ENST00000354520.4_Frame_Shift_Del_p.E1434fs	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GACCAGCTGGAAAATTGGTGT	0.463													24	28	---	---	---	---					
KRT2	3849	broad.mit.edu	37	12	53045603	53045604	+	In_Frame_Ins	INS	-	-	AAGCCGCTGCCACCTCCA	rs35124031		TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:53045603_53045604insAAGCCGCTGCCACCTCCA	ENST00000309680.3	-	1	344_345	c.323_324insTGGAGGTGGCAGCGGCTT	c.(322-324)ttc>ttTGGAGGTGGCAGCGGCTTc	p.108_108F>FGGGSGF		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	108	Head.			F -> FGGGSGF (in Ref. 1; AAC83410 and 2; AAB81946).	keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		caccaccactgaagccgctgcc	0.629													6	11	---	---	---	---					
NTS	4922	broad.mit.edu	37	12	86276100	86276112	+	Frame_Shift_Del	DEL	GAGAATAAACCCA	GAGAATAAACCCA	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr12:86276100_86276112delGAGAATAAACCCA	ENST00000256010.6	+	4	567_579	c.460_472delGAGAATAAACCCA	c.(460-474)gagaataaacccagafs	p.ENKPR154fs	NTS_ENST00000551529.1_Frame_Shift_Del_p.ENKPR79fs	NM_006183.4	NP_006174.1	P30990	NEUT_HUMAN	neurotensin	154					regulation of blood vessel size|signal transduction	extracellular region|soluble fraction|transport vesicle	neuropeptide hormone activity	p.E154D(1)		large_intestine(2)|lung(6)	8						GCAGCTGTATGAGAATAAACCCAGAAGACCCTA	0.310													10	86	---	---	---	---					
EFCAB5	374786	broad.mit.edu	37	17	28384744	28384759	+	Frame_Shift_Del	DEL	AGAACTGCCTTCAATG	AGAACTGCCTTCAATG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:28384744_28384759delAGAACTGCCTTCAATG	ENST00000394835.3	+	13	2608_2623	c.2416_2431delAGAACTGCCTTCAATG	c.(2416-2433)agaactgccttcaatggafs	p.RTAFNG806fs	EFCAB5_ENST00000536908.2_Frame_Shift_Del_p.RTAFNG750fs|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000541045.1_Frame_Shift_Del_p.RTAFNG463fs|EFCAB5_ENST00000378738.3_Frame_Shift_Del_p.RTAFNG806fs|EFCAB5_ENST00000394832.2_Frame_Shift_Del_p.RTAFNG806fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	806							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GGTAAAAGGCAGAACTGCCTTCAATGGAGTTTCATT	0.403													10	58	---	---	---	---					
SOCS7	30837	broad.mit.edu	37	17	36551570	36551570	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:36551570delC	ENST00000577233.1	+	8	1498	c.1498delC	c.(1498-1500)ccafs	p.P500fs	SOCS7_ENST00000331159.5_Frame_Shift_Del_p.P466fs	NM_014598.2	NP_055413.1	O14512	SOCS7_HUMAN	suppressor of cytokine signaling 7	500	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	protein binding|SH3 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					AGGACTGCCACCAACTCCTGT	0.468													13	31	---	---	---	---					
ITGA2B	3674	broad.mit.edu	37	17	42462950	42462957	+	Frame_Shift_Del	DEL	GGTGTTCC	GGTGTTCC	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr17:42462950_42462957delGGTGTTCC	ENST00000262407.5	-	4	567_574	c.536_543delGGAACACC	c.(535-543)gggaacaccfs	p.GNT179fs	ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.GNT179fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	179					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	TGCGGCTCAGGGTGTTCCCGCGACAGGG	0.635													7	8	---	---	---	---					
SYDE1	85360	broad.mit.edu	37	19	15223296	15223296	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:15223296delC	ENST00000600252.1	+	4	2331	c.689delC	c.(688-690)gccfs	p.A230fs	SYDE1_ENST00000342784.2_Frame_Shift_Del_p.A573fs|SYDE1_ENST00000600440.1_Frame_Shift_Del_p.A506fs			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	573					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						AGGCCTCGTGCCCGCAGCTCC	0.647													12	14	---	---	---	---					
HNRNPUL1	11100	broad.mit.edu	37	19	41808719	41808745	+	In_Frame_Del	DEL	GGTGGTGGTGGCTTCCGGGGCCGCGGG	GGTGGTGGTGGCTTCCGGGGCCGCGGG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr19:41808719_41808745delGGTGGTGGTGGCTTCCGGGGCCGCGGG	ENST00000392006.3	+	12	2010_2036	c.1837_1863delGGTGGTGGTGGCTTCCGGGGCCGCGGG	c.(1837-1863)ggtggtggtggcttccggggccgcgggdel	p.GGGGFRGRG613del	HNRNPUL1_ENST00000378215.4_In_Frame_Del_p.GGGGFRGRG499del|HNRNPUL1_ENST00000352456.3_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000602130.1_In_Frame_Del_p.GGGGFRGRG613del|HNRNPUL1_ENST00000263367.3_In_Frame_Del_p.GGGGFRGRG524del|HNRNPUL1_ENST00000593587.1_In_Frame_Del_p.GGGGFRGRG513del|HNRNPUL1_ENST00000595018.1_In_Frame_Del_p.GGGGFRGRG513del	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	613	5 X 3 AA repeats of R-G-G.|Gly-rich.|Necessary for interaction with TP53.|Necessary for transcription repression.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TGACAACCGAGGTGGTGGTGGCTTCCGGGGCCGCGGGGGTGGTGGTG	0.652													10	47	---	---	---	---					
C21orf62	56245	broad.mit.edu	37	21	34166204	34166206	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr21:34166204_34166206delTGT	ENST00000536776.1	-	2	667_669	c.527_529delACA	c.(526-531)aacagg>agg	p.N176del	C21orf49_ENST00000477513.1_Intron|C21orf49_ENST00000382375.4_Intron|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382378.1_Intron|C21orf62_ENST00000479548.1_In_Frame_Del_p.N176del|C21orf62_ENST00000487113.1_In_Frame_Del_p.N176del|C21orf49_ENST00000453404.1_Intron|C21orf62_ENST00000490358.1_In_Frame_Del_p.N176del	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	176										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				GCTGAGTCCCTGTTGAAAAGAGC	0.429													18	38	---	---	---	---					
RTCB	51493	broad.mit.edu	37	22	32797844	32797858	+	In_Frame_Del	DEL	GGTTCTTAGCAAGCG	GGTTCTTAGCAAGCG	-			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:32797844_32797858delGGTTCTTAGCAAGCG	ENST00000216038.5	-	5	471_485	c.373_387delCGCTTGCTAAGAACC	c.(373-387)cgcttgctaagaaccdel	p.RLLRT125del	RTCB_ENST00000476619.1_5'UTR|RTCB_ENST00000451746.2_In_Frame_Del_p.RLLRT125del	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATCTAAATTGGTTCTTAGCAAGCGGACACCACAG	0.465													10	36	---	---	---	---					
PLXNB2	23654	broad.mit.edu	37	22	50719219	50719220	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chr22:50719219_50719220insG	ENST00000449103.1	-	24	4086_4087	c.3946_3947insC	c.(3946-3948)ctcfs	p.L1316fs	PLXNB2_ENST00000359337.4_Frame_Shift_Ins_p.L1316fs			O15031	PLXB2_HUMAN	plexin B2	1316					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAACTGGTAGAGGGCCTGCTCC	0.653													9	36	---	---	---	---					
USP9X	8239	broad.mit.edu	37	X	41047370	41047371	+	Splice_Site	INS	-	-	GT			TCGA-BT-A2LB-01A-11D-A18F-08	TCGA-BT-A2LB-11A-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7aea186-f13b-43b1-8693-f90f51e005dd	34f4e7e1-170f-4457-9b05-9c5df619aaf0	g.chrX:41047370_41047371insGT	ENST00000324545.8	+	25	4443	c.3810_3810insGT	c.(3811-3813)acc>acGTc	p.T1271fs	USP9X_ENST00000378308.2_Splice_Site_p.T1271fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTATGAGAAGGTAAGAATTAT	0.297													19	14	---	---	---	---