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
CES1P1	51716	broad.mit.edu	37	16	55801349	55801349	+	RNA	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr16:55801349C>T	ENST00000571348.1	+	0	376					NR_003276.2																						ACATTCCTCTCAAGCTTTCTG	0.488000													44	44					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246394	45246394	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:45246394G>A	ENST00000263765.4	+	8	1720	c.1471G>A	c.(1471-1473)Ggt>Agt	p.G491S	PRDM11_ENST00000530656.1_Missense_Mutation_p.G491S|PRDM11_ENST00000424263.2_Missense_Mutation_p.G457S|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	491										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						GGACCCTGCAGGTAAGTTGGT	0.547000													23	70					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113543592	113543592	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:113543592C>T	ENST00000546530.1	-	17	2045	c.1760G>A	c.(1759-1761)cGc>cAc	p.R587H	RASAL1_ENST00000446861.3_Missense_Mutation_p.R585H|RASAL1_ENST00000548055.1_Missense_Mutation_p.R586H|RASAL1_ENST00000261729.5_Missense_Mutation_p.R585H|RASAL1_ENST00000418411.2_5'UTR	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	585	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GAAGGCAAAGCGCGTGGCCAG	0.637000													10	58					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88329428	88329428	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr13:88329428C>T	ENST00000325089.6	+	2	2004	c.1785C>T	c.(1783-1785)ccC>ccT	p.P595P	SLITRK5_ENST00000400028.3_Silent_p.P354P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	595	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GTAAGGCGCCCAAAAAATTCG	0.532000													45	90					0	0	1	0	0
FAM179A	165186	broad.mit.edu	37	2	29274942	29274942	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:29274942C>T	ENST00000379558.4	+	20	3394	c.3043C>T	c.(3043-3045)Cct>Tct	p.P1015S	FAM179A_ENST00000403861.2_Missense_Mutation_p.P960S|FAM179A_ENST00000465300.1_3'UTR	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	1015							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCTCATACCCTTTTCAGCT	0.478000													4	18					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197134	8197134	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:8197134T>C	ENST00000520004.1	-	4	2438	c.2174A>G	c.(2173-2175)aAc>aGc	p.N725S	SGK223_ENST00000330777.4_Missense_Mutation_p.N725S			Q86YV5	SG223_HUMAN		725							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTGCTCTTGTTCATTTTTAG	0.473000													9	72					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104114837	104114837	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:104114837G>A	ENST00000361355.4	+	4	890	c.274G>A	c.(274-276)Gat>Aat	p.D92N	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	92					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGGAAATGAAGATGAATTTAG	0.353000													43	85					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044405	56044405	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:56044405C>T	ENST00000244728.5	-	3	1008	c.611G>A	c.(610-612)aGg>aAg	p.R204K	COL21A1_ENST00000535941.1_Missense_Mutation_p.R204K|COL21A1_ENST00000370819.1_Missense_Mutation_p.R204K	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	204	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CATCACTTCCCTTATTTTGGA	0.328000													6	27					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883024	156883024	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:156883024A>G	ENST00000338302.3	+	20	2686	c.2461A>G	c.(2461-2463)Agc>Ggc	p.S821G	PEAR1_ENST00000292357.7_Missense_Mutation_p.S821G			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	821	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCAACCCCAGCTACCACAC	0.612000													25	72					0	0	1	0	0
CCAR2	57805	broad.mit.edu	37	8	22475230	22475230	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:22475230C>T	ENST00000308511.4	+	16	2261	c.2012C>T	c.(2011-2013)tCg>tTg	p.S671L	CCAR2_ENST00000520861.1_Missense_Mutation_p.S346L|CCAR2_ENST00000389279.3_Missense_Mutation_p.S671L					cell cycle and apoptosis regulator 2	671																	CTGGAGGATTCGGAGGTCCGG	0.537000													43	134					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749055	22749055	+	RNA	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:22749055C>T	ENST00000511446.2	+	0	427				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCATTGAATCCTTTGACAAAT	0.413000													33	45					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26752169	26752169	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:26752169C>T	ENST00000381340.3	-	30	4327	c.3911G>A	c.(3910-3912)gGc>gAc	p.G1304D		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1304					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACGTGGCGGCCATGTGTCTC	0.428000													28	179					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245436	59245436	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:59245436C>T	ENST00000530162.1	+	1	591	c.534C>T	c.(532-534)taC>taT	p.Y178Y		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACACTTTCTACTGTGATGTCC	0.498000													39	54					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147092748	147092748	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:147092748G>A	ENST00000234739.3	+	8	3527	c.2787G>A	c.(2785-2787)ccG>ccA	p.P929P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	929	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P929P(2)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCTGCCCCGTCACCTGGAT	0.597000			T	"""IGH@, IGL@"""	B-ALL								13	83					0	0	1	0	0
RBM27	54439	broad.mit.edu	37	5	145616996	145616996	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr5:145616996G>A	ENST00000265271.5	+	8	1445		c.e8+1		RBM27_ENST00000506502.1_Splice_Site	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27						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)			GTATCAGAACGTAAGTACATG	0.413000													30	79					0	0	1	0	0
ADAM30	11085	broad.mit.edu	37	1	120438047	120438047	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:120438047G>T	ENST00000369400.1	-	1	1071	c.913C>A	c.(913-915)Ctt>Att	p.L305I		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	305	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GACCATGCAAGAGCATCATTA	0.363000													16	43					2.48551e-13	2.77602e-13	1	1	0
NR1D2	9975	broad.mit.edu	37	3	23997585	23997585	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:23997585A>C	ENST00000312521.4	+	3	660	c.341A>C	c.(340-342)cAc>cCc	p.H114P	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	114					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TCAGGATTCCACTATGGAGTT	0.418000													33	125					0	0	1	0	0
PRDM10	56980	broad.mit.edu	37	11	129800974	129800974	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:129800974C>G	ENST00000358825.5	-	11	1698	c.1467G>C	c.(1465-1467)gaG>gaC	p.E489D	PRDM10_ENST00000526082.1_Missense_Mutation_p.E403D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E403D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E403D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E489D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E463D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E489E(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCACCACGCTCTCTTCATGCT	0.617000													7	49					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15760837	15760837	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:15760837C>T	ENST00000378076.3	-	2	624	c.271G>A	c.(271-273)Gga>Aga	p.G91R		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	91					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TAGACGGCTCCCCCTTCCACG	0.572000													21	45					0	0	1	0	0
MKRN2	23609	broad.mit.edu	37	3	12610489	12610489	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:12610489G>A	ENST00000170447.7	+	2	279	c.142G>A	c.(142-144)Gga>Aga	p.G48R	MKRN2_ENST00000448482.1_Missense_Mutation_p.G48R|MKRN2_ENST00000411987.1_Intron	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	48						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						CTGTGCCTATGGAACTCGGTG	0.468000													7	53					0	0	1	0	0
NUF2	83540	broad.mit.edu	37	1	163306539	163306539	+	Splice_Site	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:163306539A>G	ENST00000271452.3	+	6	616		c.e6-1		NUF2_ENST00000524800.1_Splice_Site|NUF2_ENST00000490881.1_Splice_Site|NUF2_ENST00000367900.3_Splice_Site	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component						cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					TTTCTATTTTAGAAGCAAAAC	0.308000													11	27					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51087320	51087320	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr14:51087320T>C	ENST00000441560.2	+	10	1347	c.866T>C	c.(865-867)aTa>aCa	p.I289T	ATL1_ENST00000354525.4_Missense_Mutation_p.I289T|ATL1_ENST00000358385.6_Missense_Mutation_p.I289T|ATL1_ENST00000357032.3_Missense_Mutation_p.I289T	NM_001127713.1	NP_001121185.1	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	289					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGTAGAAATAGATGATGAA	0.378000													15	36					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52945996	52945996	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:52945996G>T	ENST00000295213.4	+	9	1640	c.1266G>T	c.(1264-1266)gaG>gaT	p.E422D	SPATA18_ENST00000419395.2_Missense_Mutation_p.E390D	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	422					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCATCCAGGAGATATGTTGCA	0.428000													87	176					5.14759e-42	6.10611e-42	1	1	0
ACAP3	116983	broad.mit.edu	37	1	1231147	1231147	+	Silent	SNP	G	G	A	rs147071154	byFrequency	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:1231147G>A	ENST00000354700.5	-	18	1876	c.1674C>T	c.(1672-1674)ccC>ccT	p.P558P	ACAP3_ENST00000353662.3_Silent_p.P516P	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	558					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGGGCAGAACGGGCTCAAGCC	0.716000													5	12					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179442499	179442499	+	Missense_Mutation	SNP	G	G	A	rs34943774		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:179442499G>A	ENST00000589042.1	-	323	68878	c.68654C>T	c.(68653-68655)tCg>tTg	p.S22885L	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S13945L|TTN_ENST00000460472.2_Missense_Mutation_p.S13820L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S14012L|TTN_ENST00000591111.1_Missense_Mutation_p.S21244L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S20317L|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21244	Fibronectin type-III 66.						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)			CCAAGACTTCGAAGGTAGATC	0.393000													18	44					0	0	1	0	0
AGT	183	broad.mit.edu	37	1	230841853	230841853	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:230841853C>T	ENST00000366667.4	-	3	1164	c.950G>A	c.(949-951)gGc>gAc	p.G317D		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	317					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)	CTGGAAGGTGCCCATGCCAGA	0.582000													13	29					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143975	11143975	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:11143975G>A	ENST00000358026.2	+	26	3840	c.3556G>A	c.(3556-3558)Gcg>Acg	p.A1186T	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1186T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGACCTGCAAGCGCAGGACCG	0.617000			"""F, N, Mis"""		NSCLC								13	42					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112513542	112513542	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:112513542T>A	ENST00000261745.4	-	8	964	c.716A>T	c.(715-717)tAc>tTc	p.Y239F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	239						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGCTTCTTGTACATAGCCAT	0.403000													22	37					0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101900167	101900167	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr9:101900167A>T	ENST00000374994.4	+	4	718	c.601A>T	c.(601-603)Att>Ttt	p.I201F	TGFBR1_ENST00000374990.2_Missense_Mutation_p.I124F|TGFBR1_ENST00000552516.1_Missense_Mutation_p.I205F|TGFBR1_ENST00000550253.1_Missense_Mutation_p.I132F	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	201	GS.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGAACAATTGCGAGAAC	0.358000													37	21					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67801251	67801251	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr13:67801251G>T	ENST00000544246.1	-	2	2013	c.1322C>A	c.(1321-1323)gCc>gAc	p.A441D	PCDH9_ENST00000456367.1_Missense_Mutation_p.A441D|PCDH9_ENST00000377865.2_Missense_Mutation_p.A441D|PCDH9_ENST00000328454.5_Missense_Mutation_p.A441D|PCDH9_ENST00000377861.3_Missense_Mutation_p.A441D	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	441	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGAATCAGAGGCAACAATTTT	0.408000													18	33					3.41278e-10	3.71518e-10	1	1	0
WHSC1L1	54904	broad.mit.edu	37	8	38175548	38175548	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:38175548C>G	ENST00000316985.3	-	10	2381	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	WHSC1L1_ENST00000317025.8_Intron|WHSC1L1_ENST00000433384.2_Intron|WHSC1L1_ENST00000525081.1_5'UTR|WHSC1L1_ENST00000527502.1_Intron	NM_017778.2	NP_060248.2	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	622					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			ACTCCCCGGTCCGCCGACCCT	0.552000			T	NUP98	AML								17	13					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2984029	2984029	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr7:2984029C>T	ENST00000396946.4	-	5	904	c.501G>A	c.(499-501)acG>acA	p.T167T	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	167					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CGCGCGTCAGCGTCATCTGCT	0.577000			Mis		DLBCL								28	88					0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6335436	6335436	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:6335436G>A	ENST00000335585.5	-	7	836	c.813C>T	c.(811-813)ccC>ccT	p.P271P	PPP2R2C_ENST00000515571.1_Silent_p.P254P|PPP2R2C_ENST00000506140.1_Silent_p.P264P|PPP2R2C_ENST00000382599.4_Silent_p.P271P|PPP2R2C_ENST00000507294.1_Silent_p.P264P	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	271					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						AGCGGTTACTGGGGTCCTCAG	0.572000											OREG0016071	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11642222	11642222	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr17:11642222G>A	ENST00000262442.4	+	29	5908	c.5840G>A	c.(5839-5841)aGa>aAa	p.R1947K	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1947K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GATGCGATTAGAGATAAGAAG	0.468000													21	33					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915099	119915099	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr7:119915099A>G	ENST00000331113.4	+	1	1378	c.413A>G	c.(412-414)aAg>aGg	p.K138R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	138					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAGGAGTACAAGGATCGCAGG	0.597000													65	102					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584176	179584176	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:179584176G>A	ENST00000589042.1	-	83	24165	c.23941C>T	c.(23941-23943)Cgg>Tgg	p.R7981W	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7664W|TTN_ENST00000342992.6_Missense_Mutation_p.R6737W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7664	Ig-like 62.						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)			GGCACAATCCGATCTATGTGG	0.478000													11	53					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542858	14542858	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr18:14542858G>T	ENST00000358970.5	-	1	287	c.288C>A	c.(286-288)agC>agA	p.S96R	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	96										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCCCATCTTGCTCCTGAGCG	0.612000													10	234					1.08611e-07	1.16757e-07	1	1	0
TCEB3C	162699	broad.mit.edu	37	18	44555308	44555308	+	Silent	SNP	C	C	T	rs144408880	byFrequency	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr18:44555308C>T	ENST00000330682.2	-	1	1141	c.906G>A	c.(904-906)gcG>gcA	p.A302A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A302A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GGAGCGCTGGCGCGGAGAGTG	0.632000													14	646					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816260	29816260	+	Silent	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr16:29816260C>A	ENST00000561482.1	+	12	2236	c.1599C>A	c.(1597-1599)gcC>gcA	p.A533A	KIF22_ENST00000569382.2_Silent_p.A547A|KIF22_ENST00000160827.4_Silent_p.A601A|KIF22_ENST00000400751.5_Silent_p.A533A	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	601					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AAGGCTCAGCCCGAGATCTCC	0.612000													15	30					7.93312e-07	8.42282e-07	1	1	0
OR13C9	286362	broad.mit.edu	37	9	107379657	107379657	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr9:107379657C>T	ENST00000259362.1	-	1	828	c.829G>A	c.(829-831)Gac>Aac	p.D277N		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D277Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ATAATTTTGTCGGTAGCATCC	0.393000													67	37					0	0	1	0	0
IGHG2	3501	broad.mit.edu	37	14	106111116	106111116	+	RNA	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr14:106111116C>G	ENST00000390545.2	-	0	11																											CCGATGGGCCCTTGGTGGAGG	0.672000													8	9					0	0	1	0	0
PRAMEF12	390999	broad.mit.edu	37	1	12835795	12835795	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:12835795G>A	ENST00000357726.4	+	2	424	c.397G>A	c.(397-399)Gca>Aca	p.A133T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	133										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACGAACAGCAGGGAACTG	0.537000													29	89					0	0	1	0	0
CLDN18	51208	broad.mit.edu	37	3	137717828	137717828	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:137717828G>A	ENST00000343735.4	+	1	252	c.118G>A	c.(118-120)Gta>Ata	p.V40I		NM_001002026.2	NP_001002026.1	P56856	CLD18_HUMAN	claudin 18	40					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						CAACAACCCCGTAACAGCTGT	0.592000													18	80					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10256184	10256184	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr5:10256184A>G	ENST00000280326.4	+	4	869	c.449A>G	c.(448-450)aAg>aGg	p.K150R	CCT5_ENST00000506600.1_Missense_Mutation_p.K57R|CCT5_ENST00000515676.1_Missense_Mutation_p.K112R|CCT5_ENST00000503026.1_Missense_Mutation_p.K129R|CCT5_ENST00000515390.1_Missense_Mutation_p.K95R	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	150					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						CACCTGGACAAGATCAGCGAT	0.488000													6	16					0	0	1	0	0
MBP	4155	broad.mit.edu	37	18	74696844	74696844	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr18:74696844C>T	ENST00000355994.2	-	8	1020	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	MBP_ENST00000580402.1_Missense_Mutation_p.E253K|MBP_ENST00000579129.1_Intron|MBP_ENST00000526111.1_Missense_Mutation_p.E98K|MBP_ENST00000527041.1_Intron|MBP_ENST00000382582.3_Missense_Mutation_p.E146K|MBP_ENST00000397865.5_Missense_Mutation_p.E109K|MBP_ENST00000397875.3_Missense_Mutation_p.E130K|MBP_ENST00000397866.4_Missense_Mutation_p.E120K|MBP_ENST00000578193.1_Missense_Mutation_p.E120K|MBP_ENST00000359645.3_Missense_Mutation_p.E135K|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Intron|MBP_ENST00000397869.3_Missense_Mutation_p.E185K	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	253	Induces experimental autoimmune encephalomyelitis (EAE) 2.				central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTCTGGCCTTCGGCCCCCTGC	0.637000													18	33					0	0	1	0	0
CAMK2G	818	broad.mit.edu	37	10	75609084	75609084	+	Missense_Mutation	SNP	T	T	C	rs141619679	by1000genomes	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:75609084T>C	ENST00000423381.1	-	6	472	c.349A>G	c.(349-351)Ata>Gta	p.I117V	CAMK2G_ENST00000322635.3_Missense_Mutation_p.I117V|CAMK2G_ENST00000351293.3_Missense_Mutation_p.I117V|CAMK2G_ENST00000322680.3_Missense_Mutation_p.I117V|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000305762.7_Missense_Mutation_p.I117V|CAMK2G_ENST00000372765.1_Missense_Mutation_p.I117V|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000394762.2_Missense_Mutation_p.I117V	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	117	Protein kinase.				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATCTGATGTATACAGTGGCTA	0.493000											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	18					0	0	1	0	0
SDS	10993	broad.mit.edu	37	12	113835050	113835050	+	Silent	SNP	G	G	A	rs146027909		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:113835050G>A	ENST00000257549.4	-	6	695	c.573C>T	c.(571-573)atC>atT	p.I191I		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	191					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCTCCATGGCGATGACAGGCA	0.667000													15	26					0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75528784	75528784	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:75528784C>T	ENST00000339365.2	+	18	2460	c.2298C>T	c.(2296-2298)ttC>ttT	p.F766F	SEC24C_ENST00000411652.2_Silent_p.F647F|SEC24C_ENST00000345254.4_Silent_p.F766F|SEC24C_ENST00000535742.1_Silent_p.F14F|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000540668.1_Silent_p.F14F	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	766					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CTGTAGATTTCTTTGGAGCTT	0.517000													4	36					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141458077	141458077	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:141458077T>A	ENST00000389484.3	-	41	7512	c.6541A>T	c.(6541-6543)Act>Tct	p.T2181S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2181	EGF-like 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCAGGCAAGTAACTCCATCT	0.413000										TSP Lung(27;0.18)			26	78					0	0	1	0	0
SCML1	6322	broad.mit.edu	37	X	17770059	17770059	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chrX:17770059C>T	ENST00000380043.3	+	6	1075	c.747C>T	c.(745-747)tgC>tgT	p.C249C	SCML1_ENST00000398080.1_Silent_p.C155C|SCML1_ENST00000380045.3_Silent_p.C155C|SCML1_ENST00000380041.3_Silent_p.C276C	NM_006746.4	NP_006737.2	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	276					anatomical structure morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTGCATTATGCCCTCTTGTCG	0.448000													4	183					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53757470	53757470	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:53757470A>G	ENST00000288139.4	+	14	1854	c.1736A>G	c.(1735-1737)aAc>aGc	p.N579S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.N559S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.N559S	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GATATTGCCAACAAAGTCCTC	0.527000													4	89					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120493457	120493457	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:120493457T>C	ENST00000256646.2	-	15	2588	c.2369A>G	c.(2368-2370)tAt>tGt	p.Y790C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	790	EGF-like 20; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.Y790C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCAGTTATAGCCTGTAGA	0.403000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				22	47					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121746727	121746727	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:121746727C>T	ENST00000452319.1	+	14	3297	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D	GLI2_ENST00000361492.4_Silent_p.D1079D|GLI2_ENST00000314490.11_Silent_p.D751D			P10070	GLI2_HUMAN	GLI family zinc finger 2	1079					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCGCTCTGGACGAGGGCACCG	0.692000													12	60					0	0	1	0	0
EFCAB5	374786	broad.mit.edu	37	17	28434866	28434866	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr17:28434866G>A	ENST00000394835.3	+	23	4528	c.4336G>A	c.(4336-4338)Gaa>Aaa	p.E1446K	RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E918K|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E1322K	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1446							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						TTCCCGAACTGAAGTATGGAA	0.313000													3	19					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125072832	125072832	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:125072832T>A	ENST00000522917.1	+	24	3235	c.3029T>A	c.(3028-3030)cTc>cAc	p.L1010H	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.L1010H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1010						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)			GTGCAGCTCCTCTCTGTGGAT	0.557000													4	61					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685911	125685911	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chrX:125685911G>A	ENST00000371126.1	-	1	923	c.681C>T	c.(679-681)ttC>ttT	p.F227F		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	227										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CAGTGTCATCGAACTTGTCCG	0.642000													8	15					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44196169	44196169	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:44196169A>G	ENST00000395510.2	-	3	331	c.202T>C	c.(202-204)Tat>Cat	p.Y68H	TWF1_ENST00000548315.1_Missense_Mutation_p.Y68H|TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000325127.4_Missense_Mutation_p.Y102H|TWF1_ENST00000552521.1_5'UTR	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	68	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AATAATATATAGCATGGTTGT	0.373000													9	54					0	0	1	0	0
WWC1	23286	broad.mit.edu	37	5	167882478	167882478	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr5:167882478C>T	ENST00000265293.4	+	19	3278	c.2776C>T	c.(2776-2778)Cgc>Tgc	p.R926C	WWC1_ENST00000521089.1_Missense_Mutation_p.R926C|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	926	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CACCATCATCCGCTCTAAGAC	0.652000													31	68					0	0	1	0	0
ALKBH3	221120	broad.mit.edu	37	11	43923142	43923142	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:43923142A>G	ENST00000302708.4	+	8	947	c.536A>G	c.(535-537)aAt>aGt	p.N179S	ALKBH3_ENST00000532410.1_Intron	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	179	Alpha-ketoglutarate binding.|Fe2OG dioxygenase.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation	mitochondrion|nucleoplasm	damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	TTACTCTGCAATCTTTATCGC	0.498000								Direct reversal of damage					19	43					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763898	92763898	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr7:92763898G>A	ENST00000318238.4	-	5	2603	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	SAMD9L_ENST00000411955.1_Missense_Mutation_p.R463W|SAMD9L_ENST00000437805.1_Missense_Mutation_p.R463W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	463										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCCACCCGACTTTCTTTG	0.368000													19	66					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530558	80530558	+	Silent	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:80530558G>T	ENST00000295057.3	-	2	1043	c.387C>A	c.(385-387)ccC>ccA	p.P129P	CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.P129P|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	129						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGTGGTGTTGGGCAGTTGGG	0.612000										HNSCC(69;0.2)			8	60					0.00621372	0.00625005	1	1	0
B3GNT7	93010	broad.mit.edu	37	2	232262646	232262646	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:232262646G>A	ENST00000287590.5	+	2	477	c.216G>A	c.(214-216)acG>acA	p.T72T	B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	72					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		CTGCGCCCACGCCCATGGCCT	0.617000													6	29					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19337667	19337667	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:19337667G>A	ENST00000252575.6	+	7	1544	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAAGGGGGCGCTTCAAAGGG	0.667000													6	36					0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158923365	158923365	+	Silent	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:158923365C>A	ENST00000367097.3	+	13	4027	c.2670C>A	c.(2668-2670)acC>acA	p.T890T	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	890					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGATCACCACCTTCGACAGCA	0.642000													8	55					0.000673444	0.000685399	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11132513	11132513	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:11132513C>T	ENST00000358026.2	+	19	3013	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	SMARCA4_ENST00000589677.1_Missense_Mutation_p.T910M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T910M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T910M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T910M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T910M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	910	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.T910M(6)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTGCTGCTGACGGGCACACCG	0.592000			"""F, N, Mis"""		NSCLC								5	20					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32409012	32409012	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr18:32409012G>A	ENST00000315456.6	+	13	1426	c.1102G>A	c.(1102-1104)Ggt>Agt	p.G368S	DTNA_ENST00000556414.3_Intron|DTNA_ENST00000598142.1_Intron|DTNA_ENST00000269192.7_Intron|DTNA_ENST00000597674.1_Intron|DTNA_ENST00000596745.1_Intron|DTNA_ENST00000399121.5_Intron|DTNA_ENST00000601125.1_Intron|DTNA_ENST00000283365.9_Intron|DTNA_ENST00000595022.1_Intron|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000269191.6_Intron|DTNA_ENST00000591182.1_Intron|DTNA_ENST00000598774.1_Intron|DTNA_ENST00000554864.3_Missense_Mutation_p.G365S|DTNA_ENST00000399113.3_Intron|DTNA_ENST00000597599.1_Intron|DTNA_ENST00000269190.7_Intron|DTNA_ENST00000348997.5_Intron|DTNA_ENST00000444659.1_Intron|DTNA_ENST00000599844.1_Intron|DTNA_ENST00000399097.3_Intron	NM_001392.4	NP_001383.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	0					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						CAGCTCGGACGGTGCTTTTGG	0.408000													32	60					0	0	1	0	0
PIK3C3	5289	broad.mit.edu	37	18	39576624	39576624	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr18:39576624C>G	ENST00000262039.4	+	9	1000	c.914C>G	c.(913-915)aCc>aGc	p.T305S	PIK3C3_ENST00000398870.3_Missense_Mutation_p.T242S	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	305				TKQL -> SKPP (in Ref. 1; CAA87094).	cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TATCCACCAACCAAGCAACTT	0.264000										TSP Lung(28;0.18)			13	39					0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106647779	106647779	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:106647779C>G	ENST00000515279.1	+	4	1158	c.938C>G	c.(937-939)cCa>cGa	p.P313R	GSTCD_ENST00000394730.3_Missense_Mutation_p.P226R|GSTCD_ENST00000515255.1_3'UTR|GSTCD_ENST00000394728.3_Missense_Mutation_p.P313R|GSTCD_ENST00000360505.5_Missense_Mutation_p.P313R|GSTCD_ENST00000507281.1_Missense_Mutation_p.P226R			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	313	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GTAGAATTTCCATTGCTAGCC	0.358000													4	13					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23914858	23914858	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr13:23914858G>T	ENST00000382298.3	-	10	3745	c.3157C>A	c.(3157-3159)Ctc>Atc	p.L1053I	SACS_ENST00000382292.3_Missense_Mutation_p.L1053I|SACS_ENST00000402364.1_Missense_Mutation_p.L303I	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1053					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGGTCAAAGAGTTCACCAGCT	0.373000													49	98					5.34276e-22	6.25139e-22	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7723683	7723683	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:7723683C>T	ENST00000303635.7	+	9	1283	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P359L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAGCTCCCCTGTGTCCATC	0.657000			T	WWTR1	epitheliod hemangioendothelioma								28	44					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243480117	243480117	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:243480117G>A	ENST00000366541.3	+	9	1108	c.990G>A	c.(988-990)caG>caA	p.Q330Q	SDCCAG8_ENST00000355875.4_Silent_p.Q287Q|SDCCAG8_ENST00000391846.1_Silent_p.Q330Q|SDCCAG8_ENST00000343783.6_Silent_p.Q185Q	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	330	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CAGATACGCAGCAAAGAGAAG	0.383000													3	55					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836660	43836660	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr20:43836660C>T	ENST00000372781.3	+	2	779	c.722C>T	c.(721-723)gCg>gTg	p.A241V	SEMG1_ENST00000244069.6_Missense_Mutation_p.A241V	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTCTGTCCTGCGCACCAAGAC	0.378000													40	81					0	0	1	0	0
SHMT2	6472	broad.mit.edu	37	12	57625341	57625341	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:57625341G>A	ENST00000328923.3	+	3	761	c.309G>A	c.(307-309)aaG>aaA	p.K103K	SHMT2_ENST00000393827.4_Intron|SHMT2_ENST00000414700.3_Silent_p.K82K|SHMT2_ENST00000553474.1_Silent_p.K82K|SHMT2_ENST00000557487.1_Silent_p.K103K|SHMT2_ENST00000449049.3_Silent_p.K82K|SHMT2_ENST00000554600.1_3'UTR	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	103						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ATCCTGGCAAGAGGTGAGGGC	0.597000													8	17					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176759080	176759080	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:176759080G>A	ENST00000367662.3	+	18	6015	c.4851G>A	c.(4849-4851)caG>caA	p.Q1617Q		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1617	Sushi 4.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGGACAGCCAGTGTGTGCTCA	0.473000													28	93					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134892	100134892	+	Missense_Mutation	SNP	C	C	T	rs142886780		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:100134892C>T	ENST00000394897.1	-	3	215	c.133G>A	c.(133-135)Gga>Aga	p.G45R	RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.G45R|ADH6_ENST00000237653.7_Missense_Mutation_p.G45R|ADH6_ENST00000407820.2_Intron			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	45					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCACACAGTCCGGTGGCCACA	0.473000													12	25					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100355924	100355924	+	RNA	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr7:100355924G>T	ENST00000542585.1	+	0	3557				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GACACACACCGTGTGCCAGCT	0.627000													8	27					1.58986e-06	1.67765e-06	1	1	0
ANXA11	311	broad.mit.edu	37	10	81918922	81918922	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:81918922G>A	ENST00000438331.1	-	14	1692	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	ANXA11_ENST00000265447.4_Missense_Mutation_p.R404W|ANXA11_ENST00000372231.3_Missense_Mutation_p.R404W|ANXA11_ENST00000422982.3_Missense_Mutation_p.R404W|ANXA11_ENST00000360615.4_Missense_Mutation_p.R404W|ANXA11_ENST00000537102.1_Missense_Mutation_p.R371W|ANXA11_ENST00000535999.1_Missense_Mutation_p.R404W	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	404					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			TCAATGTCCCGGCCTGTCATT	0.532000													15	49					0	0	1	0	0
SIGLEC16	400709	broad.mit.edu	37	19	50473439	50473439	+	RNA	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:50473439A>G	ENST00000602139.1	+	0	440									sialic acid binding Ig-like lectin 16 (gene/pseudogene)											endometrium(2)|kidney(2)|lung(6)	10						ATTTGTTCTAAAAGTAACAGG	0.552000													10	36					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:11143993C>T	ENST00000358026.2	+	26	3858	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1192C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607000			"""F, N, Mis"""		NSCLC								10	49					0	0	1	0	0
PPP2R5D	5528	broad.mit.edu	37	6	42977163	42977163	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:42977163G>T	ENST00000485511.1	+	12	1534	c.1355G>T	c.(1354-1356)aGg>aTg	p.R452M	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R346M|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R444M|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R420M	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	452					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GCACTCTACAGGAACTCCAAG	0.527000											OREG0017447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	56					2.4375e-19	2.81376e-19	1	1	0
OR4F6	390648	broad.mit.edu	37	15	102345982	102345982	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr15:102345982G>A	ENST00000328882.4	+	1	81	c.60G>A	c.(58-60)tcG>tcA	p.S20S		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTCTGACTCGCGGAAGATCC	0.493000													44	95					0	0	1	0	0
MIR379	494328	broad.mit.edu	37	14	101488404	101488404	+	RNA	SNP	G	G	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr14:101488404G>C	ENST00000362218.3	+	0	39					NR_029871.1																						GGTTCCTGAAGAGATGGTAGA	0.512000													12	23					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118228909	118228909	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:118228909C>A	ENST00000360388.4	+	1	221	c.20C>A	c.(19-21)cCg>cAg	p.P7Q		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	7					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CCTGAGCAGCCGCAGCAGCAG	0.741000													4	15					1	1	1	1	0
KNDC1	85442	broad.mit.edu	37	10	135003172	135003172	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:135003172C>T	ENST00000304613.3	+	8	1533	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	KNDC1_ENST00000368572.2_Splice_Site_p.N504N|KNDC1_ENST00000368571.2_Splice_Site_p.N439N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	504	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCTGCCAACGGTGAGTGTG	0.622000													6	10					0	0	1	0	0
ZFYVE9	9372	broad.mit.edu	37	1	52704110	52704110	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:52704110C>T	ENST00000287727.3	+	4	1193	c.1021C>T	c.(1021-1023)Ctc>Ttc	p.L341F	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.L341F|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.L341F			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	341					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						ACCTTTGCTTCTCAAACCAGA	0.453000													24	53					0	0	1	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65349612	65349612	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:65349612G>A	ENST00000309295.4	+	9	1734	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	490										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGCACTCTGGGCAACTTGGT	0.677000													3	3					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152640035	152640035	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:152640035T>A	ENST00000367255.5	-	85	16953	c.16352A>T	c.(16351-16353)aAg>aTg	p.K5451M	SYNE1_ENST00000265368.4_Missense_Mutation_p.K5451M|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5380M|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5380M|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5124M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5451					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATTATCTGTCTTCGCTTTCAG	0.378000										HNSCC(10;0.0054)			6	22					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11773526	11773526	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr16:11773526G>A	ENST00000356957.3	-	13	2590	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.S801F			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	828					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CTCCAAGTGGGAGATGTGCCC	0.562000													13	27					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100096578	100096578	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:100096578C>G	ENST00000284320.5	-	6	1511	c.1063G>C	c.(1063-1065)Gtc>Ctc	p.V355L		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	355					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						AAACTGATGACTTTATCTAAA	0.373000													7	147					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211326	72211326	+	Missense_Mutation	SNP	G	G	A	rs77825059	byFrequency	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:72211326G>A	ENST00000340726.3	-	9	1421	c.782C>T	c.(781-783)cCg>cTg	p.P261L	EYA1_ENST00000388743.2_Missense_Mutation_p.P260L|EYA1_ENST00000419131.1_Missense_Mutation_p.P256L|EYA1_ENST00000388740.3_Missense_Mutation_p.P228L|EYA1_ENST00000303824.7_Missense_Mutation_p.P255L|EYA1_ENST00000388741.2_Missense_Mutation_p.P227L|EYA1_ENST00000388742.4_Missense_Mutation_p.P261L	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	261					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GCCAGATGGCGGTTCTTGAAG	0.453000													20	105					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101685820	101685820	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:101685820G>T	ENST00000261637.4	+	10	1285	c.1111G>T	c.(1111-1113)Gct>Tct	p.A371S		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	371					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGTAATTTCTGCTTTGATCCT	0.383000													36	124					4.17593e-13	4.63394e-13	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802383	185802383	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:185802383G>A	ENST00000302277.6	+	4	2854	c.2260G>A	c.(2260-2262)Gtt>Att	p.V754I		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	754						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATCAGGCTGTTAAAAGAGG	0.338000													15	18					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48888519	48888519	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr15:48888519C>T	ENST00000316623.5	-	6	954	c.499G>A	c.(499-501)Gca>Aca	p.A167T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	167	EGF-like 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TAAGTGCATGCACATCGATTT	0.408000													8	61					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647582	38647582	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:38647582C>A	ENST00000413689.1	-	10	1391	c.1198G>T	c.(1198-1200)Ggg>Tgg	p.G400W	SCN5A_ENST00000423572.2_Missense_Mutation_p.G400W|SCN5A_ENST00000414099.2_Missense_Mutation_p.G400W|SCN5A_ENST00000425664.1_Missense_Mutation_p.G400W|SCN5A_ENST00000455624.2_Missense_Mutation_p.G400W|SCN5A_ENST00000443581.1_Missense_Mutation_p.G400W|SCN5A_ENST00000450102.2_Missense_Mutation_p.G400W|SCN5A_ENST00000451551.2_Missense_Mutation_p.G400W|SCN5A_ENST00000449557.2_Missense_Mutation_p.G400W|SCN5A_ENST00000333535.4_Missense_Mutation_p.G400W	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	400					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TAGAAGGACCCCAGGAAGATG	0.582000													12	25					0.00136819	0.00138429	1	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													4	39					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124048835	124048835	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:124048835C>T	ENST00000360013.3	+	8	1533	c.1406C>T	c.(1405-1407)aCa>aTa	p.T469I	KALRN_ENST00000460856.1_Missense_Mutation_p.T469I|KALRN_ENST00000240874.3_Missense_Mutation_p.T469I	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	469					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CAAGCCTACACAGAGGTGAGA	0.562000													32	45					0	0	1	0	0
SELENBP1	8991	broad.mit.edu	37	1	151339317	151339317	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:151339317C>A	ENST00000426705.2	-	6	815	c.671G>T	c.(670-672)gGt>gTt	p.G224V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.G120V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.G182V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.G118V	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	182					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CGGTGCAGCACCCCCAGGTCT	0.567000													42	120					1.42923e-14	1.62799e-14	1	1	0
PCDHGA12	26025	broad.mit.edu	37	5	140812115	140812115	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr5:140812115G>T	ENST00000252085.3	+	1	1931	c.1789G>T	c.(1789-1791)Gac>Tac	p.D597Y	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGACAGAGACTCCGGCCA	0.706000													19	47					5.35047e-06	5.54386e-06	1	1	0
THBS2	7058	broad.mit.edu	37	6	169626318	169626318	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:169626318C>A	ENST00000366787.3	-	17	2744	c.2495G>T	c.(2494-2496)gGg>gTg	p.G832V	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	832					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACAGTGATCCCCCACACCGTC	0.572000													11	37					3.86212e-05	3.97775e-05	1	1	0
FAM86B2	653333	broad.mit.edu	37	8	12287957	12287957	+	Missense_Mutation	SNP	C	C	T	rs148629503	by1000genomes	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:12287957C>T	ENST00000262365.4	-	4	243	c.244G>A	c.(244-246)Gag>Aag	p.E82K	FAM86B2_ENST00000351291.4_Intron|FAM86B2_ENST00000309608.5_Intron|FAM86B2_ENST00000393715.3_Intron	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	82										endometrium(1)|kidney(2)	3						TGGACAGCCTCGTGCTGGGGG	0.537000													5	28					0	0	1	0	0
EMC10	284361	broad.mit.edu	37	19	50982298	50982298	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:50982298G>A	ENST00000376918.3	+	3	318	c.272G>A	c.(271-273)aGc>aAc	p.S91N	EMC10_ENST00000334976.6_Missense_Mutation_p.S91N|EMC10_ENST00000598585.1_Missense_Mutation_p.S91N	NM_175063.4	NP_778233.4			ER membrane protein complex subunit 10																		CGGCAGCTCAGCGAGGAGGAG	0.647000													4	8					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124044986	124044986	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:124044986A>G	ENST00000360013.3	+	7	1373	c.1246A>G	c.(1246-1248)Atg>Gtg	p.M416V	KALRN_ENST00000460856.1_Missense_Mutation_p.M416V|KALRN_ENST00000240874.3_Missense_Mutation_p.M416V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	416					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CATCCTCGCCATGTCTGCTGT	0.577000													17	26					0	0	1	0	0
WDR13	64743	broad.mit.edu	37	X	48460452	48460452	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chrX:48460452G>A	ENST00000218056.5	+	7	1517		c.e7-1		WDR13_ENST00000376729.5_Splice_Site	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13							cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TGCTGCTGCAGGGAAGCTGAC	0.667000													12	3					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092947	27092947	+	Splice_Site	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:27092947G>A	ENST00000324856.7	+	10	3249		c.e10-1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.?(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTCTTTTACAGGGATGGCAGC	0.448000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	14					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			4	1					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128452803	128452803	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr7:128452803G>A	ENST00000297788.4	+	14	2950	c.2583G>A	c.(2581-2583)caG>caA	p.Q861Q	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	861						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCAAGCTGCAGGCGGTGCAGG	0.557000													5	19					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179732820	179732820	+	Missense_Mutation	SNP	C	C	T	rs141786551		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:179732820C>T	ENST00000420890.2	-	16	2624	c.2507G>A	c.(2506-2508)cGt>cAt	p.R836H	CCDC141_ENST00000295723.5_Missense_Mutation_p.R261H	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	261	Ig-like.						protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATGGTCTACACGGGCTTGCTT	0.493000													9	41					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131476909	131476909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr12:131476909C>A	ENST00000261654.5	+	8	1497	c.938C>A	c.(937-939)tCg>tAg	p.S313*	GPR133_ENST00000535015.1_Nonsense_Mutation_p.S345*|RP11-76C10.5_ENST00000542980.1_lincRNA	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	313					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTCCCTCTCGGAGCAGACA	0.493000													33	68					1.99505e-19	2.31857e-19	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27057642	27057642	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:27057642G>T	ENST00000324856.7	+	3	1721		c.e3-1		ARID1A_ENST00000457599.2_Splice_Site|ARID1A_ENST00000374152.2_Splice_Site	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTTTCCTACAGATTCCTCCTT	0.468000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								53	109					1.57914e-17	1.81075e-17	1	1	0
HDLBP	3069	broad.mit.edu	37	2	242202201	242202201	+	Silent	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:242202201G>A	ENST00000391975.1	-	5	602	c.375C>T	c.(373-375)ctC>ctT	p.L125L	HDLBP_ENST00000427183.2_Silent_p.L161L|HDLBP_ENST00000310931.4_Silent_p.L125L|HDLBP_ENST00000391976.2_Silent_p.L125L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	125					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCATGATGGAGAGGCCTTGGT	0.502000													18	33					0	0	1	0	0
MCAM	4162	broad.mit.edu	37	11	119182643	119182643	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:119182643T>G	ENST00000392814.1	-	5	1736	c.1007A>C	c.(1006-1008)gAa>gCa	p.E336A	MCAM_ENST00000264036.4_Missense_Mutation_p.E387A			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	387	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGGCCCCCTTTCCAGCACCTG	0.632000													41	80					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193183967	193183967	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:193183967G>T	ENST00000342695.4	-	11	1441	c.1119C>A	c.(1117-1119)ttC>ttA	p.F373L	ATP13A4_ENST00000392443.3_Missense_Mutation_p.F373L|ATP13A4_ENST00000295548.3_Missense_Mutation_p.F373L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	373					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTGCAGTGTTGAATCCTGGAA	0.478000													98	100					8.34767e-46	9.97082e-46	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152631630	152631630	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:152631630C>A	ENST00000367255.5	-	89	17521	c.16920G>T	c.(16918-16920)gaG>gaT	p.E5640D	SYNE1_ENST00000356820.4_Missense_Mutation_p.E164D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E5640D|SYNE1_ENST00000448038.1_Missense_Mutation_p.E5569D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E5569D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E5252D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5640					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACTTTTTCAACTCTGCTTCAA	0.433000										HNSCC(10;0.0054)			13	29					1.05317e-09	1.13928e-09	1	1	0
PPP2R5D	5528	broad.mit.edu	37	6	42977162	42977162	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:42977162A>T	ENST00000485511.1	+	12	1533	c.1354A>T	c.(1354-1356)Agg>Tgg	p.R452W	PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R346W|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R444W|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R420W	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	452					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGCACTCTACAGGAACTCCAA	0.527000											OREG0017447	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	55					0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100096577	100096577	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:100096577A>G	ENST00000284320.5	-	6	1512	c.1064T>C	c.(1063-1065)gTc>gCc	p.V355A		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	355					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CAAACTGATGACTTTATCTAA	0.373000													7	148					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201984408	201984408	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:201984408C>T	ENST00000359651.3	+	8	4265	c.1073C>T	c.(1072-1074)tCa>tTa	p.S358L	ELF3_ENST00000367283.3_Missense_Mutation_p.S358L|ELF3_ENST00000367284.5_Missense_Mutation_p.S358L|RP11-510N19.5_ENST00000504773.1_RNA			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	358					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCAAAAACTCAAGCGGCTGG	0.552000													10	37					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24298631	24298631	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:24298631G>T	ENST00000175238.6	+	1	93	c.10G>T	c.(10-12)Ggg>Tgg	p.G4W	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.G4W|ADAM7_ENST00000380789.1_Missense_Mutation_p.G4W	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	4					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G4W(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AATGCTTCCCGGGTGTATATT	0.428000													79	59					8.6486e-37	1.01888e-36	1	1	0
KMT2B	9757	broad.mit.edu	37	19	36214157	36214157	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:36214157A>T	ENST00000222270.7	+	6	2983	c.2983A>T	c.(2983-2985)Acc>Tcc	p.T995S	KMT2B_ENST00000420124.1_Missense_Mutation_p.T995S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		GGGCCCTAACACCAAGAAGCA	0.597000													7	10					0	0	1	0	0
SOS1	6654	broad.mit.edu	37	2	39233657	39233657	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:39233657C>A	ENST00000426016.1	-	18	2773	c.2687G>T	c.(2686-2688)cGc>cTc	p.R896L	SOS1_ENST00000395038.2_Missense_Mutation_p.R896L|SOS1_ENST00000402219.2_Missense_Mutation_p.R896L			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	896	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TTTCTTCTGGCGACTTGGTAT	0.343000									Noonan syndrome				6	74					2.0095e-06	2.09475e-06	1	1	0
TSC1	7248	broad.mit.edu	37	9	135782758	135782758	+	Splice_Site	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr9:135782758C>T	ENST00000298552.3	-	13	1485		c.e13-1		TSC1_ENST00000440111.2_Splice_Site|TSC1_ENST00000545250.1_Splice_Site	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(2)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TTCTCTCTTCCTGAAAAGATA	0.398000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis				24	11					0	0	1	0	0
FASTKD1	79675	broad.mit.edu	37	2	170419775	170419775	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:170419775C>T	ENST00000453153.2	-	4	878	c.532G>A	c.(532-534)Gat>Aat	p.D178N	FASTKD1_ENST00000453929.2_Missense_Mutation_p.D178N	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	178					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TGAACAATATCAGCTATTTTT	0.358000													9	31					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241754	155241754	+	Silent	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:155241754C>T	ENST00000357232.4	-	14	3431	c.3432G>A	c.(3430-3432)cgG>cgA	p.R1144R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 9.				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)		ATCTCAGTCGCCGGTCTGTCA	0.458000													35	76					0	0	1	0	0
CAPN1	823	broad.mit.edu	37	11	64978730	64978730	+	Splice_Site	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:64978730G>T	ENST00000527323.1	+	21	2358		c.e21-1		CAPN1_ENST00000533129.1_Splice_Site|CAPN1_ENST00000533820.1_Splice_Site|CAPN1_ENST00000279247.6_Splice_Site|CAPN1_ENST00000524773.1_Splice_Site			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit						positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TTCTCCCGCAGTGGTTGCAGC	0.647000													4	11					2.0095e-06	2.09475e-06	1	1	0
DCC	1630	broad.mit.edu	37	18	50866208	50866208	+	Missense_Mutation	SNP	G	G	A	rs145416326		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr18:50866208G>A	ENST00000442544.2	+	15	2906	c.2290G>A	c.(2290-2292)Gtt>Att	p.V764I	DCC_ENST00000412726.1_Missense_Mutation_p.V612I|DCC_ENST00000581580.1_Missense_Mutation_p.V419I	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	764	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.V764L(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CGGTTATGGCGTTGGGAGCCC	0.458000													12	45					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383140	22383140	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr15:22383140G>T	ENST00000328795.4	+	1	759	c.668G>T	c.(667-669)tGc>tTc	p.C223F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GTCATCCTCTGCCATGTTCGT	0.493000													22	199					2.37509e-13	2.67004e-13	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71216728	71216728	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr14:71216728C>T	ENST00000554752.2	-	4	1071	c.1072G>A	c.(1072-1074)Gct>Act	p.A358T	MAP3K9_ENST00000381250.4_Missense_Mutation_p.A358T|MAP3K9_ENST00000554146.1_Missense_Mutation_p.A95T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.A52T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.A358T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	358	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ACTCCATAAGCGACTGCTAAG	0.512000													17	39					0	0	1	0	0
FZD3	7976	broad.mit.edu	37	8	28385125	28385125	+	Missense_Mutation	SNP	A	A	G	rs148525792		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr8:28385125A>G	ENST00000240093.3	+	5	1326	c.848A>G	c.(847-849)aAt>aGt	p.N283S	FZD3_ENST00000537916.1_Missense_Mutation_p.N283S	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	283					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)		GGATCTCATAATAAAGCCTGT	0.388000													100	63					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27114851	27114851	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:27114851C>A	ENST00000263182.3	+	5	839	c.471C>A	c.(469-471)gaC>gaA	p.D157E	RP11-1L12.3_ENST00000525302.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.D157E|BBOX1_ENST00000525090.1_Missense_Mutation_p.D157E|BBOX1_ENST00000527505.1_Intron|BBOX1_ENST00000528583.1_Missense_Mutation_p.D157E|RP11-1L12.3_ENST00000530430.1_RNA|RP11-1L12.3_ENST00000526061.1_RNA	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	157					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GAGCATCTGACAAACCAGGAG	0.413000													21	73					5.26018e-13	5.79968e-13	1	1	0
FAM171A1	221061	broad.mit.edu	37	10	15255000	15255000	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:15255000C>T	ENST00000378116.4	-	8	2593	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	863						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCATCATCATCGTCTTCCTCT	0.582000													29	147					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584854	179584854	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:179584854T>A	ENST00000589042.1	-	81	23739	c.23515A>T	c.(23515-23517)Agt>Tgt	p.S7839C	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7522C|TTN_ENST00000342992.6_Missense_Mutation_p.S6595C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7522	Ig-like 60.						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)			GTATTTTCACTCTCTCTGATG	0.428000													11	35					0	0	1	0	0
MRPL44	65080	broad.mit.edu	37	2	224824315	224824315	+	Missense_Mutation	SNP	A	A	G	rs113782060	byFrequency	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:224824315A>G	ENST00000258383.3	+	2	313	c.244A>G	c.(244-246)Aac>Gac	p.N82D		NM_022915.3	NP_075066.1	Q9H9J2	RM44_HUMAN	mitochondrial ribosomal protein L44	82					RNA processing	mitochondrion|ribosome	double-stranded RNA binding|protein binding|ribonuclease III activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		all_lung(227;0.00679)|Lung NSC(271;0.00855)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;2.51e-10)|all cancers(144;7.89e-08)|Lung(261;0.00705)|LUSC - Lung squamous cell carcinoma(224;0.008)		GTTACAGGAAAACTTTTCCTT	0.388000													16	75					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034755	52034755	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr19:52034755C>T	ENST00000346477.3	-	2	154	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R29Q|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R29Q|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R29Q|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R29Q	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	29	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CTGGAATCTCCGCTCCTGAGC	0.657000													10	21					0	0	1	0	0
TCP10	6953	broad.mit.edu	37	6	167786689	167786689	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:167786689C>T	ENST00000397829.4	-	8	1116	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	344						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GAGGGAGCGGCGTGCAGAGCT	0.532000													8	30					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44223075	44223075	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:44223075C>G	ENST00000393812.3	-	4	810	c.667G>C	c.(667-669)Gtc>Ctc	p.V223L	SLC35B2_ENST00000537814.1_Missense_Mutation_p.V90L|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000538577.1_Missense_Mutation_p.V130L|SLC35B2_ENST00000393810.1_3'UTR	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	223					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATCAGCATGACAGGGATCACC	0.552000													20	30					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75825747	75825747	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:75825747A>G	ENST00000322507.8	-	48	7855	c.7546T>C	c.(7546-7548)Tac>Cac	p.Y2516H	COL12A1_ENST00000483888.2_Missense_Mutation_p.Y2516H|COL12A1_ENST00000345356.6_Missense_Mutation_p.Y1352H|COL12A1_ENST00000416123.2_Missense_Mutation_p.Y2516H	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2516	Nonhelical region (NC3).				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTGAGGTGTAGCCATCCAAA	0.323000													15	29					0	0	1	0	0
TCP1	6950	broad.mit.edu	37	6	160201115	160201115	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr6:160201115T>C	ENST00000321394.7	-	10	1382	c.1102A>G	c.(1102-1104)Aag>Gag	p.K368E	TCP1_ENST00000544255.1_Missense_Mutation_p.K144E|TCP1_ENST00000392168.2_Missense_Mutation_p.K213E|TCP1_ENST00000420894.2_Missense_Mutation_p.K368E	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	368					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GTACGAGCCTTAGTACTGTTC	0.338000													10	46					0	0	1	0	0
CHRNB4	1143	broad.mit.edu	37	15	78917493	78917493	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr15:78917493G>A	ENST00000412074.2	-	5	611	c.500C>T	c.(499-501)aCg>aTg	p.T167M	CHRNB4_ENST00000261751.3_Silent_p.Y493Y	NM_001256567.1	NP_001243496.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	0					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCTGGGCAGCGTAGGGCCCCT	0.622000													6	58					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190541358	190541358	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr2:190541358A>G	ENST00000520309.1	+	2	230	c.142A>G	c.(142-144)Act>Gct	p.T48A	ANKAR_ENST00000313581.4_Missense_Mutation_p.T48A|ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000431575.2_5'UTR|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000438402.2_Missense_Mutation_p.T48A	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	48						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGAGTTACTAACTACTGCACT	0.393000													19	40					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959698	16959698	+	RNA	SNP	G	G	A	rs9730434	by1000genomes	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:16959698G>A	ENST00000412962.1	-	0	74																		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657000													6	26					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50954894	50954894	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr10:50954894C>T	ENST00000374103.4	-	10	1283	c.1198G>A	c.(1198-1200)Gcc>Acc	p.A400T	OGDHL_ENST00000432695.1_Missense_Mutation_p.A191T|OGDHL_ENST00000419399.1_Missense_Mutation_p.A343T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	400					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.A400T(3)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CCAGCAAAGGCGGCGTCCCCA	0.632000													12	31					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112028433	112028433	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:112028433A>T	ENST00000369716.4	-	5	1035	c.902T>A	c.(901-903)aTc>aAc	p.I301N	ADORA3_ENST00000369717.4_Missense_Mutation_p.I220N	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CAAACCCGTGATCAGTATGCA	0.448000													27	42					0	0	1	0	0
RHOA	387	broad.mit.edu	37	3	49397742	49397742	+	Missense_Mutation	SNP	G	G	A	rs11552757		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr3:49397742G>A	ENST00000418115.1	-	5	866	c.482C>T	c.(481-483)gCa>gTa	p.A161V	RHOA_ENST00000422781.1_3'UTR|RHOA_ENST00000454011.2_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	161					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	TTTGGTCTTTGCTGAACACTC	0.453000													73	88					0	0	1	0	0
SLC9A5	6553	broad.mit.edu	37	16	67298295	67298295	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr16:67298295C>T	ENST00000299798.11	+	13	1948	c.1883C>T	c.(1882-1884)gCg>gTg	p.A628V		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	628					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TCAGAGGATGCGCAGGAGCGG	0.572000													9	16					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48506635	48506635	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr7:48506635C>T	ENST00000435803.1	+	44	12922	c.12898C>T	c.(12898-12900)Cca>Tca	p.P4300S	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4300					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AGATTTAAACCCACGCCAGTA	0.473000													23	67					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186056410	186056410	+	Silent	SNP	A	A	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:186056410A>T	ENST00000271588.4	+	59	9337	c.9108A>T	c.(9106-9108)atA>atT	p.I3036I	HMCN1_ENST00000367492.2_Silent_p.I3036I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3036	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACACTTGTATAGCTATCAATC	0.358000													54	88					0	0	1	0	0
CDH11	1009	broad.mit.edu	37	16	64982537	64982537	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr16:64982537G>A	ENST00000394156.3	-	13	2501	c.2048C>T	c.(2047-2049)gCt>gTt	p.A683V	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000268603.4_Intron			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	0					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		ACTCTCTGTAGCCACCACATA	0.423000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			5	18					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224902	158224902	+	Silent	SNP	C	C	A			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:158224902C>A	ENST00000289429.5	+	2	620	c.87C>A	c.(85-87)gtC>gtA	p.V29V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	29					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCTTCCATGTCACCTGGATCG	0.483000													24	55					1.75199e-13	1.98251e-13	1	1	0
MDM4	4194	broad.mit.edu	37	1	204494650	204494650	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:204494650A>T	ENST00000367182.3	+	2	166	c.4A>T	c.(4-6)Aca>Tca	p.T2S	MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Missense_Mutation_p.T2S|MDM4_ENST00000391947.2_Missense_Mutation_p.T2S|MDM4_ENST00000507825.2_Missense_Mutation_p.T2S|MDM4_ENST00000454264.2_Missense_Mutation_p.T2S|MDM4_ENST00000367180.1_Missense_Mutation_p.T2S	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	2					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TACCAAAATGACATCATTTTC	0.343000			A		"""GBM, bladder, retinoblastoma"""								16	44					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55062892	55062892	+	RNA	SNP	G	G	C			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:55062892G>C	ENST00000526016.1	-	0	745					NR_038174.2																						AAACACCCATGCACGTGAATC	0.428000													7	8					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													8	285	---	---	---	---					
AGPAT9	84803	broad.mit.edu	37	4	84508407	84508407	+	Splice_Site	DEL	G	G	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr4:84508407delG	ENST00000395226.2	+	5	697		c.e5-1		AGPAT9_ENST00000264409.4_Splice_Site	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9						phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				TTCTTTTTCAGGGTTACCTTG	0.398													33	85	---	---	---	---					
CTD-2503O16.4	0	broad.mit.edu	37	5	74285946	74285947	+	RNA	DEL	TT	TT	-	rs138935859		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr5:74285946_74285947delTT	ENST00000505200.1	-	0	212																											aattgctttctttttttttttt	0.386													3	3	---	---	---	---					
RBM27	54439	broad.mit.edu	37	5	145598544	145598555	+	Splice_Site	DEL	CTAGATGTGATG	CTAGATGTGATG	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr5:145598544_145598555delCTAGATGTGATG	ENST00000265271.5	+	2	225_233	c.59_67delCTAGATGTGATG	c.(58-69)actagatgtgat>aat	p.20_23TRCD>N	RBM27_ENST00000506502.1_Splice_Site_p.20_23TRCD>N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	20					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)			CTTTGTCTAACTAGATGTGATGCTGATCCTTC	0.335													8	52	---	---	---	---					
SPTAN1	6709	broad.mit.edu	37	9	131379913	131379931	+	Splice_Site	DEL	ATTCAGGGAGAAGAAGCTG	ATTCAGGGAGAAGAAGCTG	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr9:131379913_131379931delATTCAGGGAGAAGAAGCTG	ENST00000372739.3	+	42	5467_5480	c.5357_5370delATTCAGGGAGAAGAAGCTG	c.(5356-5370)aattcagggagaaga>a	p.NSGRR1786fs	SPTAN1_ENST00000372731.4_Splice_Site_p.NSGRR1781fs|SPTAN1_ENST00000358161.5_Splice_Site_p.NSGRR1786fs	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1781					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCATCTCTCATTCAGGGAGAAGAAGCTGCTGGTGGGCT	0.562													21	17	---	---	---	---					
MMP12	4321	broad.mit.edu	37	11	102738795	102738796	+	RNA	INS	-	-	T	rs33924686	by1000genomes	TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	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	9	---	---	---	---					
ATM	472	broad.mit.edu	37	11	108216624	108216626	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr11:108216624_108216626delCTT	ENST00000278616.4	+	58	8958_8960	c.8573_8575delCTT	c.(8572-8577)acttct>act	p.S2860del	C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000452508.2_In_Frame_Del_p.S2860del	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2860	PI3K/PI4K.		Missing (in AT).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGTGTAGCTACTTCTTCTATTGG	0.360			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			46	153	---	---	---	---					
RPL10L	140801	broad.mit.edu	37	14	47120555	47120555	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr14:47120555delC	ENST00000298283.3	-	1	473	c.385delG	c.(385-387)gtcfs	p.V129fs		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	129					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAATGTGGACCCGGGCTACA	0.552													16	59	---	---	---	---					
CALM1	801	broad.mit.edu	37	14	90870756	90870758	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr14:90870756_90870758delCGT	ENST00000356978.4	+	5	567_569	c.319_321delCGT	c.(319-321)cgtdel	p.R107del	RP11-471B22.2_ENST00000555853.1_RNA|CALM1_ENST00000544280.2_In_Frame_Del_p.R71del|CALM1_ENST00000553542.1_In_Frame_Del_p.R71del|CALM1_ENST00000447653.3_In_Frame_Del_p.R108del	NM_006888.4	NP_008819.1	P62158	CALM_HUMAN	calmodulin 1 (phosphorylase kinase, delta)	107	EF-hand 3.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	AGCAGAACTACGTCACGTCATGA	0.394													12	63	---	---	---	---					
MON1B	22879	broad.mit.edu	37	16	77227491	77227491	+	Frame_Shift_Del	DEL	G	G	-	rs147924001		TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr16:77227491delG	ENST00000248248.3	+	3	642	c.292delG	c.(292-294)gggfs	p.G98fs	MON1B_ENST00000439557.2_Intron|MON1B_ENST00000545553.1_Intron|MON1B_ENST00000320859.6_Frame_Shift_Del_p.G98fs	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	98							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGGCCAGGGCGGGGACCCCAG	0.617													25	35	---	---	---	---					
NPBWR2	2832	broad.mit.edu	37	20	62738023	62738023	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FD-A6TI-01A-11D-A32B-08	TCGA-FD-A6TI-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2b52475-7aff-455a-adfb-ddaef4fda8c7	1693264c-6c82-46da-8179-e2779233215d	g.chr20:62738023delC	ENST00000369768.1	-	1	501	c.162delG	c.(160-162)gggfs	p.G54fs		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	54						plasma membrane	opioid receptor activity|protein binding	p.G54G(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CAGCACAGATCCCGGAGTACA	0.592													24	27	---	---	---	---