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
SYT12	91683	broad.mit.edu	37	11	66807362	66807362	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:66807362C>A	ENST00000393946.2	+	7	1471	c.309C>A	c.(307-309)acC>acA	p.T103T	SYT12_ENST00000527043.1_Silent_p.T103T|SYT12_ENST00000525457.1_Silent_p.T103T|SYT12_ENST00000526281.1_3'UTR			Q8IV01	SYT12_HUMAN	synaptotagmin XII	103						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TTGAGGACACCTTTGAGAGCA	0.647000													41	129					1.36018e-38	2.17837e-38	1	1	0
GPRIN2	9721	broad.mit.edu	37	10	47000002	47000002	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:47000002G>T	ENST00000374314.4	+	1	2077	c.1122G>T	c.(1120-1122)gaG>gaT	p.E374D	GPRIN2_ENST00000374317.1_Missense_Mutation_p.E374D			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	374										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCCTGGAGGAGGTGCCGTCCC	0.662000													22	267					2.44723e-14	3.49127e-14	1	1	0
HYKK	123688	broad.mit.edu	37	15	78825892	78825892	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:78825892C>T	ENST00000388988.4	+	5	1115	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	HYKK_ENST00000408962.2_Intron|HYKK_ENST00000569878.1_Silent_p.L334L|HYKK_ENST00000563233.1_Intron	NM_001013619.2	NP_001013641.2			hydroxylysine kinase																		AAGACTATCTCATGGTTACTG	0.418000													11	107					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47541908	47541908	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:47541908G>C	ENST00000359314.5	+	6	1106	c.650G>C	c.(649-651)gGa>gCa	p.G217A		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	217					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATTGGATTTGGAGACATTTTT	0.408000													5	129					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													4	10					0	0	1	0	0
ASB2	51676	broad.mit.edu	37	14	94417512	94417512	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:94417512C>G	ENST00000555019.1	-	6	1143	c.713G>C	c.(712-714)gGc>gCc	p.G238A	ASB2_ENST00000556337.1_Intron|ASB2_ENST00000315988.4_Missense_Mutation_p.G190A	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	190					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		AGCGGTCCAGCCGCGGTTGCA	0.622000													11	84					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767942	77767942	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:77767942C>A	ENST00000521891.2	+	10	9233	c.8785C>A	c.(8785-8787)Cac>Aac	p.H2929N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.H2903N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.H2884N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.H2884N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2884						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCGGCCGGGTCACAAGCGTTT	0.493000										HNSCC(33;0.089)			15	64					1.05317e-09	1.37142e-09	1	1	0
CD34	947	broad.mit.edu	37	1	208062055	208062055	+	Missense_Mutation	SNP	C	C	A	rs146829371		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:208062055C>A	ENST00000356522.4	-	7	1265	c.944G>T	c.(943-945)cGc>cTc	p.R315L	CD34_ENST00000367036.3_Missense_Mutation_p.R157L|CD34_ENST00000310833.7_Missense_Mutation_p.R315L|CD34_ENST00000537704.1_Missense_Mutation_p.R180L|CD34_ENST00000485761.1_5'UTR	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	315					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						GCTCCAGCTGCGGCGATTCAT	0.557000													66	407					9.61844e-40	1.54635e-39	1	1	0
TIGD4	201798	broad.mit.edu	37	4	153691700	153691700	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:153691700C>T	ENST00000304337.2	-	2	1277	c.457G>A	c.(457-459)Ggt>Agt	p.G153S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	153					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding	p.G153C(2)		breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ACTGGTACACCTGTAGCTTCT	0.363000													18	53					0	0	1	0	0
PHTF2	57157	broad.mit.edu	37	7	77552095	77552095	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:77552095G>T	ENST00000450574.1	+	9	1143	c.1017G>T	c.(1015-1017)gaG>gaT	p.E339D	PHTF2_ENST00000307305.8_Splice_Site_p.E335_splice|PHTF2_ENST00000248550.7_Splice_Site_p.E373_splice|PHTF2_ENST00000275575.7_Splice_Site_p.E335_splice|PHTF2_ENST00000424760.1_Splice_Site_p.E335_splice|PHTF2_ENST00000422959.2_Splice_Site_p.E339_splice|PHTF2_ENST00000415251.2_Missense_Mutation_p.E335D|PHTF2_ENST00000416283.2_Splice_Site_p.E339_splice|PHTF2_ENST00000454592.1_3'UTR	NM_001127359.1	NP_001120831.1	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ACCCTAATGAGGTATATACTT	0.303000													6	10					0.00198382	0.00212081	1	1	0
OR51G1	79324	broad.mit.edu	37	11	4944914	4944914	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:4944914G>A	ENST00000321961.2	-	1	723	c.656C>T	c.(655-657)tCa>tTa	p.S219L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGGGCGTATGAGAGAAAGAT	0.547000													6	89					0	0	1	0	0
LOX	4015	broad.mit.edu	37	5	121409737	121409737	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:121409737T>A	ENST00000231004.4	-	4	1305	c.1006A>T	c.(1006-1008)Agg>Tgg	p.R336W	LOX_ENST00000513319.1_5'UTR|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase	336	Lysyl-oxidase like.				protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GCAAATCGCCTGTGGTAGCCA	0.498000													63	113					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61510951	61510951	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:61510951G>A	ENST00000266070.4	-	16	6682	c.6357C>T	c.(6355-6357)cgC>cgT	p.R2119R	DIDO1_ENST00000395343.1_Silent_p.R2119R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2119	Arg-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					agtttcggccGCGCTCGCGCT	0.706000													18	223					0	0	1	0	0
STX18	53407	broad.mit.edu	37	4	4543583	4543583	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:4543583C>A	ENST00000306200.2	-	1	172	c.109G>T	c.(109-111)Gag>Tag	p.E37*	STX18_ENST00000505286.1_Nonsense_Mutation_p.E37*	NM_016930.2	NP_058626.1	Q9P2W9	STX18_HUMAN	syntaxin 18	37					ER to Golgi vesicle-mediated transport|intracellular protein transport	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	SNAP receptor activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.0534)		CGGAACAGCTCGTCCCGGCTG	0.697000													3	21					0.004672	0.00485795	1	1	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044395	90044395	+	RNA	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:90044395G>T	ENST00000462693.1	+	0	346																											GGTGGAAGCTGAGGATGTCGG	0.512000													26	249					5.45727e-16	7.92062e-16	1	1	0
DNMBP	23268	broad.mit.edu	37	10	101648681	101648681	+	Silent	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:101648681A>G	ENST00000342239.3	-	12	3349	c.3258T>C	c.(3256-3258)gcT>gcC	p.A1086A	DNMBP_ENST00000543621.1_Silent_p.A308A|DNMBP_ENST00000540316.1_5'UTR|DNMBP_ENST00000324109.4_Silent_p.A1062A|DNMBP_ENST00000472036.1_5'UTR			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1062	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ACATGCTCACAGCAGCCACCA	0.512000													21	65					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100676878	100676878	+	Silent	SNP	C	C	A	rs71557219	byFrequency	TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:100676878C>A	ENST00000306151.4	+	3	2245	c.2181C>A	c.(2179-2181)tcC>tcA	p.S727S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	727	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAGCCAGTTCCTCTCCTACAA	0.507000													87	613					1.80454e-33	2.879e-33	1	1	0
SNED1	25992	broad.mit.edu	37	2	242007182	242007182	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:242007182C>A	ENST00000310397.8	+	22	3014	c.3014C>A	c.(3013-3015)cCc>cAc	p.P1005H	SNED1_ENST00000342631.6_Missense_Mutation_p.P1005H|SNED1_ENST00000401884.1_Missense_Mutation_p.P1005H|SNED1_ENST00000405547.3_Missense_Mutation_p.P1005H	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1005	Fibronectin type-III 2.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CCCCTAGGACCCCGCCCTGTG	0.647000													4	33					0.00024832	0.000273873	1	1	0
SLC24A5	283652	broad.mit.edu	37	15	48413259	48413259	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:48413259C>A	ENST00000482911.2	+	1	59	c.18C>A	c.(16-18)ggC>ggA	p.G6G	SLC24A5_ENST00000449382.2_Silent_p.G6G|SLC24A5_ENST00000341459.3_Silent_p.G6G			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	6					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CAAAAGGGGGCCAAACATGGG	0.572000													5	25					1.23904e-05	1.42285e-05	1	1	0
DISP1	84976	broad.mit.edu	37	1	223178858	223178858	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:223178858T>A	ENST00000284476.6	+	8	4283	c.4119T>A	c.(4117-4119)aaT>aaA	p.N1373K		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1373					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCAAGACCAATGTACACAGTC	0.468000													37	81					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105890008	105890008	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:105890008C>A	ENST00000393359.2	-	9	2231	c.1805G>T	c.(1804-1806)aGa>aTa	p.R602I	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R602I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	602					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CACCTGCAGTCTCTTGTCTAT	0.413000													33	88					3.76114e-14	5.32934e-14	1	1	0
PKDCC	91461	broad.mit.edu	37	2	42282123	42282123	+	Silent	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:42282123A>G	ENST00000294964.5	+	4	1257	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	PKDCC_ENST00000480099.1_3'UTR	NM_138370.2	NP_612379.2	Q504Y2	PKDCC_HUMAN	protein kinase domain containing, cytoplasmic	359	Protein kinase.				cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport	Golgi apparatus	ATP binding|protein kinase activity			breast(2)|kidney(1)|lung(5)	8						CCCCGCCTTCACTGCGTCCTC	0.592000													41	230					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141083410	141083410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:141083410C>A	ENST00000389484.3	-	80	13232	c.12261G>T	c.(12259-12261)tgG>tgT	p.W4087C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4087					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)		CAAAGTCAGCCCAATATATGC	0.383000										TSP Lung(27;0.18)			10	68					7.48243e-07	9.03947e-07	1	1	0
RNF213	57674	broad.mit.edu	37	17	78349667	78349667	+	Silent	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:78349667A>T	ENST00000582970.1	+	51	13325	c.13182A>T	c.(13180-13182)ccA>ccT	p.P4394P	RNF213_ENST00000508628.2_Silent_p.P4443P|RNF213_ENST00000336301.6_Silent_p.P2467P|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACCCCACGCCAGAGGTGAGTA	0.453000													15	53					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311203	117311203	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:117311203C>T	ENST00000369478.3	+	5	962	c.854C>T	c.(853-855)cCa>cTa	p.P285L		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	285	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CCTCCTCCACCACCTGGTCAT	0.597000													18	96					0	0	1	0	0
PIGG	54872	broad.mit.edu	37	4	520832	520832	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:520832G>T	ENST00000453061.2	+	10	2180	c.2074G>T	c.(2074-2076)Gac>Tac	p.D692Y	PIGG_ENST00000504346.1_Missense_Mutation_p.D603Y|PIGG_ENST00000310340.5_Missense_Mutation_p.D684Y|PIGG_ENST00000383028.4_Missense_Mutation_p.D559Y|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	692					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TTTCAGCTCTGACCACAAAGC	0.507000													11	46					0.000151284	0.000168632	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67680292	67680292	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:67680292G>A	ENST00000433211.1	-	18	2658	c.2484C>T	c.(2482-2484)gcC>gcT	p.A828A	CTNNA3_ENST00000373744.4_Silent_p.A828A|CTNNA3_ENST00000373735.1_Silent_p.A167A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	828					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTTGGTTGAGGCAATGTAAG	0.453000													35	83					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179563386	179563386	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:179563386A>T	ENST00000393371.2	-	3	726	c.430T>A	c.(430-432)Tgt>Agt	p.C144S	RASGEF1C_ENST00000522500.1_5'UTR|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.C144S			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	144	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCGTCACAGGGGGCGATG	0.697000													3	3					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47570926	47570926	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:47570926G>T	ENST00000273859.3	+	16	3195	c.2926G>T	c.(2926-2928)Gtg>Ttg	p.V976L		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	976					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCCAGAGCAAGTGTCATTAAG	0.493000													33	100					6.00712e-18	8.90417e-18	1	1	0
DOCK5	80005	broad.mit.edu	37	8	25265534	25265534	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:25265534C>G	ENST00000276440.7	+	49	5173	c.5129C>G	c.(5128-5130)tCg>tGg	p.S1710W		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1710						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CGCAGGGCCTCGTCAGGTGCC	0.478000													9	15					0	0	1	0	0
MPEG1	219972	broad.mit.edu	37	11	58980271	58980271	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:58980271G>A	ENST00000361050.3	-	1	153	c.68C>T	c.(67-69)tCg>tTg	p.S23L		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	23						integral to membrane		p.S23L(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CATCTCTCCCGAAGGCTTGCC	0.552000													21	208					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106917004	106917004	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:106917004G>T	ENST00000369701.3	+	10	1818	c.1591G>T	c.(1591-1593)Gat>Tat	p.D531Y		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	531						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GCAAGCTCCGGATGTGGACCT	0.547000													8	72					5.18039e-06	6.09973e-06	1	1	0
MDGA2	161357	broad.mit.edu	37	14	47566236	47566236	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:47566236T>C	ENST00000426342.1	-	6	868	c.122A>G	c.(121-123)gAg>gGg	p.E41G	MDGA2_ENST00000399232.2_Missense_Mutation_p.E339G|MDGA2_ENST00000439988.2_Missense_Mutation_p.E270G|MDGA2_ENST00000357362.3_Missense_Mutation_p.E41G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	270	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGGTGCAGGCTCTCCTCCTGT	0.453000													7	97					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131864	82131864	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:82131864C>T	ENST00000199936.4	+	5	1180	c.987C>T	c.(985-987)atC>atT	p.I329I	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	329					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AGCATGCTATCTTGGCGAAGA	0.493000													12	121					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149463328	149463328	+	Splice_Site	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:149463328C>T	ENST00000302017.3	-	5	676	c.262_splice	c.e5-1	p.G88_splice	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	88					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCACTCCTCTCCTGGAAAGTC	0.542000													8	80					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77987338	77987338	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:77987338C>A	ENST00000310924.2	-	2	124	c.9G>T	c.(7-9)ctG>ctT	p.L3L		NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	3						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GGAGGCGGCCCAGAGACATTG	0.667000													5	11					0.014758	0.0150827	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1168853	1168853	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:1168853G>A	ENST00000308624.5	+	8	704	c.575G>A	c.(574-576)gGa>gAa	p.G192E	SNTG2_ENST00000467759.1_3'UTR|SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	192					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CATCTGAACGGAAACTCCAGT	0.443000													25	186					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987663	22987663	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:22987663G>T	ENST00000509305.1	+	3	886	c.540G>T	c.(538-540)gtG>gtT	p.V180V	C1QB_ENST00000314933.6_Silent_p.V182V			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	182	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCTGTGCGTGAACCTCATGC	0.577000													29	42					1.75199e-13	2.44926e-13	1	1	0
OR6N1	128372	broad.mit.edu	37	1	158735858	158735858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:158735858G>T	ENST00000335094.2	-	1	634	c.615C>A	c.(613-615)tgC>tgA	p.C205*		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CTAGGATCTTGCAGGAATTTA	0.478000													34	115					2.08457e-15	3.01505e-15	1	1	0
EPG5	57724	broad.mit.edu	37	18	43529466	43529466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:43529466G>T	ENST00000282041.5	-	5	1515	c.1481C>A	c.(1480-1482)gCt>gAt	p.A494D		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	494					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						AAAAGGAACAGCCCATTTACT	0.418000													7	41					1	1	1	1	0
ABCG2	9429	broad.mit.edu	37	4	89042903	89042903	+	Silent	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:89042903T>C	ENST00000237612.3	-	6	1118	c.573A>G	c.(571-573)agA>agG	p.R191R	ABCG2_ENST00000515655.1_Silent_p.R191R	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	191	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TAGTCCTTTTTCTTTCTCCTC	0.403000													19	52					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21148756	21148756	+	Splice_Site	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:21148756C>A	ENST00000377122.4	-	8	1081		c.e8-1		NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTATTTAATCTGTCATAAAA	0.279000													8	11					0.00307968	0.00323444	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67145393	67145393	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:67145393G>T	ENST00000371037.4	+	14	849	c.772G>T	c.(772-774)Gct>Tct	p.A258S	SGIP1_ENST00000371035.3_Missense_Mutation_p.A215S|SGIP1_ENST00000371036.3_Missense_Mutation_p.A225S|SGIP1_ENST00000371039.1_Missense_Mutation_p.A226S|SGIP1_ENST00000237247.6_Missense_Mutation_p.A262S	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	258	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAATGTACCAGCTACCCCACC	0.448000													23	122					1.17739e-12	1.63505e-12	1	1	0
PIK3C2B	5287	broad.mit.edu	37	1	204401488	204401488	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:204401488T>C	ENST00000367187.3	-	28	4551	c.3995A>G	c.(3994-3996)aAt>aGt	p.N1332S	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.N1304S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1332	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	p.N1332S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GATGAAAAAATTGAGCTTTGT	0.507000													6	82					0	0	1	0	0
C16orf82	162083	broad.mit.edu	37	16	27078618	27078618	+	RNA	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:27078618G>T	ENST00000505035.1	+	0	591				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN																			AGCGACATCAGCTTGGTGGGC	0.647000													3	11					1.23904e-05	1.42285e-05	1	1	0
MAP1B	4131	broad.mit.edu	37	5	71493171	71493171	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:71493171G>A	ENST00000296755.7	+	5	4287	c.3989G>A	c.(3988-3990)aGt>aAt	p.S1330N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1330						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTGACTGGCAGTGCTGGTCAC	0.478000													26	43					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569183	161569183	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:161569183C>A	ENST00000356592.3	+	7	1243	c.783C>A	c.(781-783)gtC>gtA	p.V261V	GABRG2_ENST00000414552.2_Silent_p.V301V|GABRG2_ENST00000393933.4_Silent_p.V166V|GABRG2_ENST00000361925.4_Silent_p.V261V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	261					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATTATGTGGTCATGTCTGTCT	0.403000													23	168					7.92952e-12	1.07615e-11	1	1	0
VCAN	1462	broad.mit.edu	37	5	82835510	82835510	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:82835510G>A	ENST00000265077.3	+	8	7253	c.6688G>A	c.(6688-6690)Gaa>Aaa	p.E2230K	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1243K|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2230	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATCAAAAAGGAAGAAAGTAC	0.383000													6	75					0	0	1	0	0
SMO	6608	broad.mit.edu	37	7	128845518	128845518	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:128845518C>A	ENST00000249373.3	+	4	1095	c.815C>A	c.(814-816)gCg>gAg	p.A272E		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	272					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TACGTCAATGCGTGCTTCTTT	0.567000			Mis		skin basal cell								36	104					3.76114e-14	5.32934e-14	1	1	0
CNTNAP2	26047	broad.mit.edu	37	7	147926773	147926773	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:147926773C>T	ENST00000361727.3	+	20	3799	c.3283C>T	c.(3283-3285)Cga>Tga	p.R1095*	CNTNAP2_ENST00000538075.1_Nonsense_Mutation_p.R154*	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1095	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1095*(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGGTGGCACCCGAGAGCCATA	0.448000										HNSCC(39;0.1)			18	43					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119737491	119737491	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:119737491C>G	ENST00000313400.4	-	10	1985	c.1885G>C	c.(1885-1887)Gtc>Ctc	p.V629L	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.V625L|ASTN2_ENST00000361209.2_Missense_Mutation_p.V578L			O75129	ASTN2_HUMAN	astrotactin 2	629						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCCTACCTGACATCTGCAGGG	0.532000													40	75					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70965784	70965784	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:70965784C>G	ENST00000334414.6	-	12	2970	c.2926G>C	c.(2926-2928)Gac>Cac	p.D976H	PTPRB_ENST00000261266.5_Missense_Mutation_p.D758H|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758H|PTPRB_ENST00000550857.1_Missense_Mutation_p.D668H|PTPRB_ENST00000551525.1_Missense_Mutation_p.D975H|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888H|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	758	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATCAAAGTCTCCAGTGGCA	0.413000													12	191					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	86868382	86868382	+	Splice_Site	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:86868382G>T	ENST00000305494.5	+	5	435		c.e5-1		TMEM135_ENST00000535167.1_Splice_Site|TMEM135_ENST00000532959.1_Splice_Site|TMEM135_ENST00000340353.7_Intron|TMEM135_ENST00000355734.4_Intron	NM_022918.3	NP_075069.3	Q86UB9	TM135_HUMAN	transmembrane protein 135							integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTAATTTACAGGCCACAGAAA	0.303000													28	75					1.75199e-13	2.44926e-13	1	1	0
LRRC37A16P	651250	broad.mit.edu	37	17	66131707	66131707	+	RNA	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:66131707C>T	ENST00000590019.1	-	0	298																											CCAGTTGGCTCGCCTTGTAGA	0.622000													44	98					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11098868	11098868	+	RNA	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:11098868C>T	ENST00000470054.1	-	0	57									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctccaactcccccttctcctg	0.617000													7	33					0	0	1	0	0
PABPC1L	80336	broad.mit.edu	37	20	43552822	43552822	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:43552822G>A	ENST00000255136.3	+	7	979	c.897G>A	c.(895-897)aaG>aaA	p.K299K	PABPC1L_ENST00000217073.2_Silent_p.K299K|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000537323.1_Silent_p.K299K|PABPC1L_ENST00000217074.4_Silent_p.K299K	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	299	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						TGTATGTGAAGAATCTGGACG	0.542000													6	144					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17428534	17428534	+	Silent	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:17428534G>C	ENST00000302539.4	-	25	3191	c.3066C>G	c.(3064-3066)ctC>ctG	p.L1022L	ABCC8_ENST00000389817.3_Silent_p.L1021L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1021	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCATGTGCTTGAGCAGCTGTG	0.642000													21	135					0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17742486	17742486	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:17742486G>T	ENST00000380060.3	+	5	1451	c.1113G>T	c.(1111-1113)cgG>cgT	p.R371R	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.R215R	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	371						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TACTACAGCGGAGACGAAAAT	0.428000													12	38					2.27111e-07	2.7758e-07	1	1	0
HSPA12A	259217	broad.mit.edu	37	10	118464768	118464768	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:118464768A>G	ENST00000369209.3	-	3	252	c.148T>C	c.(148-150)Tca>Cca	p.S50P		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	50							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGCTGTTCTGAGACGTTGGAG	0.577000													28	170					0	0	1	0	0
LECT1	11061	broad.mit.edu	37	13	53307474	53307474	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:53307474G>T	ENST00000448904.2	-	3	344	c.234C>A	c.(232-234)acC>acA	p.T78T	LECT1_ENST00000377962.3_Silent_p.T78T	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	78					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TGATACTCATGGTGTAATGGA	0.398000													32	92					4.14947e-28	6.5206e-28	1	1	0
HSD17B7P2	158160	broad.mit.edu	37	10	38645385	38645385	+	RNA	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:38645385G>C	ENST00000494540.1	+	0	78					NR_003086.1																						GCGCGAAGATGCGAAAGGTGG	0.597000													6	29					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62750591	62750591	+	RNA	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:62750591T>A	ENST00000400873.3	-	0	2022					NR_026899.1																						CACAACTTGCTGTATCTGGTC	0.438000													52	294					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82837064	82837064	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:82837064C>A	ENST00000265077.3	+	8	8807	c.8242C>A	c.(8242-8244)Cag>Aag	p.Q2748K	VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.Q1761K|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2748	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAAAGGACTCAGGAGGAGTA	0.428000													19	34					2.35188e-11	3.18151e-11	1	1	0
RELA	5970	broad.mit.edu	37	11	65429463	65429463	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:65429463C>A	ENST00000525693.1	-	3	193	c.131G>T	c.(130-132)gGc>gTc	p.G44V	RELA_ENST00000406246.3_Missense_Mutation_p.G44V|RELA_ENST00000308639.9_Missense_Mutation_p.G44V			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	44	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGGATGCTGCCCGCGGAGCG	0.662000													12	47					6.40141e-05	7.21237e-05	1	1	0
SPEG	10290	broad.mit.edu	37	2	220332045	220332045	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:220332045G>C	ENST00000312358.7	+	10	3163	c.3031G>C	c.(3031-3033)Gca>Cca	p.A1011P	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1011	Ig-like 4.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGCAGCCTGCACTGCTCAA	0.607000													52	105					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74560766	74560766	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:74560766C>A	ENST00000321288.5	+	7	1122	c.1122C>A	c.(1120-1122)ccC>ccA	p.P374P	CCDC33_ENST00000398814.3_Silent_p.P171P			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	374							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTTCATACCCCGCTACATCG	0.622000													9	61					5.4927e-09	6.99985e-09	1	1	0
LAMA2	3908	broad.mit.edu	37	6	129636760	129636760	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:129636760C>G	ENST00000421865.2	+	25	3744	c.3695C>G	c.(3694-3696)cCt>cGt	p.P1232R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1232	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATTTGGAACCTTTTTATTGG	0.403000													22	62					0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127760148	127760148	+	Silent	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:127760148C>G	ENST00000368679.4	-	12	1539	c.1230G>C	c.(1228-1230)gtG>gtC	p.V410V	ADAM12_ENST00000368676.4_Silent_p.V410V	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	410	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TAAACAGGCACACCCCCATTC	0.552000													35	110					0	0	1	0	0
TFAP2D	83741	broad.mit.edu	37	6	50696678	50696678	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:50696678G>T	ENST00000008391.3	+	4	936	c.708G>T	c.(706-708)agG>agT	p.R236S	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	236							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGGTAAAGAGGCGCCTCTCCC	0.473000													15	102					4.7546e-09	6.11515e-09	1	1	0
ABCG5	64240	broad.mit.edu	37	2	44049988	44049988	+	Missense_Mutation	SNP	C	C	T	rs143402711		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:44049988C>T	ENST00000543989.1	-	6	1931	c.226G>A	c.(226-228)Gtc>Atc	p.V76I	ABCG5_ENST00000260645.1_Missense_Mutation_p.V471I|ABCG5_ENST00000405322.1_Missense_Mutation_p.V300I			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	471	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGGGAGGACGTGCAGTGCA	0.592000													10	28					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119017345	119017345	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:119017345G>T	ENST00000298472.5	+	10	1076	c.933G>T	c.(931-933)ctG>ctT	p.L311L	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	311					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	p.L311L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCGCCATGCTGGAGCCAGCCC	0.542000													11	46					0.0167234	0.0170082	1	1	0
FZD5	7855	broad.mit.edu	37	2	208632027	208632027	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:208632027C>A	ENST00000295417.3	-	2	1990	c.1437G>T	c.(1435-1437)gaG>gaT	p.E479D		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	479					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		TGAGCGCCGCCTCCCAGCTCT	0.657000													6	35					0.00116845	0.00126204	1	1	0
WDFY3	23001	broad.mit.edu	37	4	85639593	85639593	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:85639593A>G	ENST00000322366.6	-	47	8092	c.7685T>C	c.(7684-7686)aTt>aCt	p.I2562T	WDFY3_ENST00000295888.4_Missense_Mutation_p.I2579T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2579						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TAAGGTTTCAATATCTCTTAT	0.353000													29	52					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109683478	109683478	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:109683478C>T	ENST00000338432.7	+	38	5345	c.5226C>T	c.(5224-5226)atC>atT	p.I1742I	ACACB_ENST00000543201.1_Silent_p.I408I|ACACB_ENST00000377854.5_Silent_p.I1672I|ACACB_ENST00000377848.3_Silent_p.I1742I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1742					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAAAGACATCCTGACATACA	0.493000													4	88					0	0	1	0	0
IKBKAP	8518	broad.mit.edu	37	9	111693389	111693389	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:111693389C>G	ENST00000374647.5	-	2	345	c.38G>C	c.(37-39)aGg>aCg	p.R13T	IKBKAP_ENST00000537196.1_Intron	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	13					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTGAATATCCCTGAACTCCAG	0.453000													16	65					0	0	1	0	0
CNTROB	116840	broad.mit.edu	37	17	7838429	7838429	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:7838429G>A	ENST00000380262.3	+	4	1485	c.560G>A	c.(559-561)aGa>aAa	p.R187K	CNTROB_ENST00000565740.1_Missense_Mutation_p.R187K|CNTROB_ENST00000563694.1_Missense_Mutation_p.R187K|CNTROB_ENST00000380255.3_Missense_Mutation_p.R187K	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	187					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CAGGGGCTGAGAGATGCATTG	0.537000													23	78					0	0	1	0	0
NCAPG	64151	broad.mit.edu	37	4	17814581	17814581	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:17814581C>G	ENST00000251496.2	+	3	533	c.357C>G	c.(355-357)tgC>tgG	p.C119W		NM_022346.3	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	119					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTAGAGTGTGCCTGCTCATAA	0.333000													22	101					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													4	10					0.00909568	0.00938764	1	1	0
SLC10A2	6555	broad.mit.edu	37	13	103718371	103718371	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:103718371C>T	ENST00000245312.3	-	1	825	c.229G>A	c.(229-231)Gga>Aga	p.G77R		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	77					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCATGATTCCAAACTGACAG	0.527000													47	76					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94388638	94388638	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:94388638G>A	ENST00000260731.3	+	11	1381	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	431					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGCTGTTGAGGAGGAGCTGAA	0.279000													3	25					0	0	1	0	0
INHBB	3625	broad.mit.edu	37	2	121107088	121107088	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:121107088C>T	ENST00000295228.3	+	2	908	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	288					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CAGCAGGCACCGCATTCGCAA	0.642000													16	95					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115120784	115120784	+	Silent	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:115120784G>C	ENST00000349155.2	-	1	1185	c.222C>G	c.(220-222)acC>acG	p.T74T	TBX3_ENST00000257566.3_Silent_p.T74T	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	74					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ACGGGATGCCGGTCTCGGCCG	0.697000													23	43					0	0	1	0	0
FUT4	2526	broad.mit.edu	37	11	94278001	94278001	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:94278001C>A	ENST00000358752.2	+	1	985	c.702C>A	c.(700-702)gcC>gcA	p.A234A		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	234					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGCTCAGGCCGTGCTTTTCC	0.721000													8	39					0.00307968	0.00323444	1	1	0
KANK1	23189	broad.mit.edu	37	9	740898	740898	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:740898C>T	ENST00000382303.1	+	13	4312	c.3660C>T	c.(3658-3660)ctC>ctT	p.L1220L	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.L1062L|KANK1_ENST00000382297.2_Silent_p.L1220L	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1220					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGGAAGAACTCTTCGGCTGTG	0.572000													4	86					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33141163	33141163	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:33141163C>A	ENST00000341947.2	-	37	2925	c.2698G>T	c.(2698-2700)Gat>Tat	p.D900Y	COL11A2_ENST00000374708.4_Missense_Mutation_p.D814Y|COL11A2_ENST00000374714.1_Missense_Mutation_p.D874Y|COL11A2_ENST00000395197.1_Missense_Mutation_p.D840Y|COL11A2_ENST00000361917.1_Missense_Mutation_p.D793Y|COL11A2_ENST00000374712.1_Missense_Mutation_p.D819Y|COL11A2_ENST00000357486.1_Missense_Mutation_p.D879Y|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374713.1_Missense_Mutation_p.D853Y	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	900	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGCAGCCCATCCTTCCCAGGG	0.597000													4	70					0.00024832	0.000273873	1	1	0
TGM5	9333	broad.mit.edu	37	15	43552318	43552318	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:43552318G>T	ENST00000220420.5	-	3	375	c.368C>A	c.(367-369)tCc>tAc	p.S123Y	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	123					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CCCCTGGAAGGAGTCGATGTG	0.627000													33	151					7.11191e-15	1.01807e-14	1	1	0
SRSF6	6431	broad.mit.edu	37	20	42088524	42088524	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:42088524C>G	ENST00000244020.3	+	3	476	c.370C>G	c.(370-372)Caa>Gaa	p.Q124E		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	124	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GTGCAGTTGGCAAGATTTAAA	0.348000													23	65					0	0	1	0	0
PNCK	139728	broad.mit.edu	37	X	152938118	152938118	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:152938118G>T	ENST00000393831.2	-	3	537	c.103C>A	c.(103-105)Cgg>Agg	p.R35R	PNCK_ENST00000340888.3_Silent_p.R35R|PNCK_ENST00000370142.1_Silent_p.R35R|PNCK_ENST00000370145.4_Silent_p.R52R|PNCK_ENST00000370150.1_Silent_p.R35R|PNCK_ENST00000447676.2_Silent_p.R118R|PNCK_ENST00000475172.1_5'UTR	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	35	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGAGCCCCGCTCCTGGGCC	0.677000													6	37					1.6384e-10	2.19504e-10	1	1	0
DNAJC6	9829	broad.mit.edu	37	1	65855253	65855253	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:65855253C>T	ENST00000395325.3	+	11	1397	c.1240C>T	c.(1240-1242)Cca>Tca	p.P414S	DNAJC6_ENST00000371069.4_Missense_Mutation_p.P471S|DNAJC6_ENST00000263441.7_Missense_Mutation_p.P401S	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	414					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						AGATATCCCTCCAGACAACCC	0.408000													9	98					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081558	194081558	+	Missense_Mutation	SNP	G	G	A	rs141605466	by1000genomes	TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:194081558G>A	ENST00000347624.3	-	2	300	c.215C>T	c.(214-216)cCg>cTg	p.P72L	LRRC15_ENST00000439944.2_Missense_Mutation_p.P78L|LRRC15_ENST00000428839.1_Missense_Mutation_p.P78L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	72						integral to membrane		p.P72L(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		ATTGAGGAACGGGGACTCATT	0.597000													29	38					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1424836	1424836	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:1424836A>C	ENST00000446702.2	+	18	3004	c.2377A>C	c.(2377-2379)Acc>Ccc	p.T793P	CNTN6_ENST00000539053.1_Missense_Mutation_p.T721P|CNTN6_ENST00000350110.2_Missense_Mutation_p.T793P			Q9UQ52	CNTN6_HUMAN	contactin 6	793	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GAGTACTGTGACCATTGTCTA	0.413000													4	78					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113275868	113275868	+	Splice_Site	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:113275868G>C	ENST00000297405.5	-	61	10106	c.9862_splice	c.e61+1	p.P3288_splice	CSMD3_ENST00000455883.2_Splice_Site_p.P3119_splice|CSMD3_ENST00000352409.3_Splice_Site_p.P3218_splice|CSMD3_ENST00000343508.3_Splice_Site_p.P3248_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3288	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCATACTTACGTAAGCACTGC	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	19					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11540053	11540053	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:11540053G>T	ENST00000262442.3	+	9	1806	c.1738G>T	c.(1738-1740)Gca>Tca	p.A580S	DNAH9_ENST00000454412.2_Missense_Mutation_p.A580S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	580	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			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)		AGATCTGGATGCAGTGAGGAT	0.463000													10	110					9.70103e-10	1.27919e-09	1	1	0
CD36	948	broad.mit.edu	37	7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:80286000G>A	ENST00000435819.1	+	7	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	89					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398000													32	78					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107313	168107313	+	Silent	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:168107313T>A	ENST00000409195.1	+	9	9500	c.9411T>A	c.(9409-9411)acT>acA	p.T3137T	XIRP2_ENST00000409273.1_Silent_p.T2915T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.T3137T|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2962					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAACCCTACTAAGAACGAGC	0.438000													17	146					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32639190	32639190	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:32639190C>A	ENST00000286827.3	-	5	570	c.99G>T	c.(97-99)tcG>tcT	p.S33S	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.S33S	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	33					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCGTCTTGTGCGAGAGGCGCA	0.602000													5	55					0.00116845	0.00126204	1	1	0
NCOR1	9611	broad.mit.edu	37	17	15950304	15950304	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:15950304G>A	ENST00000268712.3	-	42	6897	c.6640C>T	c.(6640-6642)Cgt>Tgt	p.R2214C	NCOR1_ENST00000395851.1_Missense_Mutation_p.R2111C|NCOR1_ENST00000395857.3_Missense_Mutation_p.R798C	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2214	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTCAACTTACGAAAAATCTCC	0.408000													11	107					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52623229	52623229	+	Nonsense_Mutation	SNP	G	G	C	rs141067977	by1000genomes	TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:52623229G>C	ENST00000356770.4	-	17	2728	c.2726C>G	c.(2725-2727)tCa>tGa	p.S909*	PBRM1_ENST00000409057.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.S941*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.S941*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.S956*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.S956*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.S941*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.S941*			Q86U86	PB1_HUMAN	polybromo 1	941					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTAAGCCTGAGAGGCCTGC	0.428000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								64	89					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107756538	107756538	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:107756538G>T	ENST00000388781.3	-	3	186	c.103C>A	c.(103-105)Ctc>Atc	p.L35I	LAMB4_ENST00000388780.3_Missense_Mutation_p.L35I|LAMB4_ENST00000414450.2_Missense_Mutation_p.L35I|LAMB4_ENST00000205386.4_Missense_Mutation_p.L35I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	35	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCCACCAGGAGATCACCAGTG	0.527000													22	176					1.28384e-07	1.57837e-07	1	1	0
AK7	122481	broad.mit.edu	37	14	96944935	96944935	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:96944935C>T	ENST00000267584.4	+	15	1733	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	563					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ACCGGGACATCAATATCGACG	0.458000													13	69					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702844	60702844	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:60702844C>T	ENST00000005286.4	+	10	2113	c.1960C>T	c.(1960-1962)Cgg>Tgg	p.R654W	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R653W	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	653	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GACCTTGAGCCGGGGCACTGC	0.667000													7	26					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152410453	152410453	+	Silent	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:152410453G>C	ENST00000427231.2	-	126	19717	c.19515C>G	c.(19513-19515)tcC>tcG	p.S6505S	NEB_ENST00000603639.1_Silent_p.S6505S|NEB_ENST00000397345.3_Silent_p.S6505S|NEB_ENST00000604864.1_Silent_p.S6505S|NEB_ENST00000172853.10_Silent_p.S4804S|NEB_ENST00000409198.1_Silent_p.S4804S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4804	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTTCTTCTGGGAATCCTTGG	0.458000													12	154					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103194613	103194613	+	Splice_Site	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:103194613G>T	ENST00000375735.2	+	82	12078		c.e82-1		DYNC2H1_ENST00000398093.3_Splice_Site|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1						cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTTATATTTAGGACTATCGTG	0.323000													14	30					1.3612e-06	1.63032e-06	1	1	0
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										ggggagggggtgggggtggag	0.627000													4	8					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49689412	49689412	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:49689412G>A	ENST00000257860.4	+	1	1928	c.429G>A	c.(427-429)ctG>ctA	p.L143L	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	143	Linker 1.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						CCGACCAGCTGTGCCAGCAGG	0.721000													4	0					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105414440	105414440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:105414440C>A	ENST00000333244.5	-	7	7467	c.7348G>T	c.(7348-7350)Gag>Tag	p.E2450*	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2450						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACATCCACCTCCACGCTGGGC	0.637000													44	258					7.53189e-24	1.15324e-23	1	1	0
SKP1	6500	broad.mit.edu	37	5	133496684	133496684	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:133496684G>T	ENST00000353411.6	-	4	492	c.309C>A	c.(307-309)ctC>ctA	p.L103L	SKP1_ENST00000522855.1_Silent_p.L103L|SKP1_ENST00000522552.1_Silent_p.L103L|SKP1_ENST00000521216.1_Intron|SKP1_ENST00000517625.1_Silent_p.L103L	NM_170679.2	NP_733779.1	P63208	SKP1_HUMAN	S-phase kinase-associated protein 1	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|G1/S transition of mitotic cell cycle|histone H2A monoubiquitination|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACCAGAATGAGTTCAAAAA	0.348000													10	22					3.86212e-05	4.37498e-05	1	1	0
FAT1	2195	broad.mit.edu	37	4	187518153	187518153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:187518153C>A	ENST00000441802.2	-	25	12750	c.12541G>T	c.(12541-12543)Gaa>Taa	p.E4181*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4181					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCAATTCCTTCCGCCAACCCA	0.512000										HNSCC(5;0.00058)			39	87					1.67305e-13	2.35466e-13	1	1	0
ACP1	52	broad.mit.edu	37	2	264964	264964	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:264964G>A	ENST00000272067.6	+	0	96				ACP1_ENST00000405233.1_De_novo_Start_InFrame|ACP1_ENST00000272065.5_De_novo_Start_InFrame|ACP1_ENST00000439645.2_De_novo_Start_InFrame|ACP1_ENST00000407983.3_De_novo_Start_InFrame	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble							cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		CGCGCGGGAAGATGGCGGAAC	0.677000													13	137					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802451	185802451	+	Silent	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:185802451A>T	ENST00000302277.6	+	4	2922	c.2328A>T	c.(2326-2328)tcA>tcT	p.S776S		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	776						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						GACAACATTCACATTCTTATT	0.353000													8	57					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550728	8550728	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:8550728G>T	ENST00000348943.3	+	15	1531	c.1299G>T	c.(1297-1299)atG>atT	p.M433I	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M472I	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	472	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TTGAGCGCATGGGCCAGACCA	0.687000													51	123					9.52127e-25	1.47403e-24	1	1	0
SELP	6403	broad.mit.edu	37	1	169581470	169581470	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:169581470C>A	ENST00000263686.6	-	6	983	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S	SELP_ENST00000458599.2_Missense_Mutation_p.A316S|SELP_ENST00000367792.2_Missense_Mutation_p.A316S|SELP_ENST00000367791.2_Missense_Mutation_p.A316S|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.A316S|SELP_ENST00000367794.2_Missense_Mutation_p.A316S	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	316	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CACACTGGGGCTGGGGCTGTC	0.498000													18	100					1.64113e-05	1.87944e-05	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78651359	78651359	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:78651359G>T	ENST00000286627.5	-	25	4044	c.3092C>A	c.(3091-3093)cCg>cAg	p.P1031Q	RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1058Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1089Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1031Q|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1092Q|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1089Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1072Q|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1093Q	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1089					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CAGTGTCTGCGGGGTGCTGTA	0.627000													18	58					3.41278e-10	4.51438e-10	1	1	0
HIST1H4D	8360	broad.mit.edu	37	6	26189083	26189083	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:26189083C>T	ENST00000340756.2	-	1	221	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_003539.3	NP_003530.1	P62805	H4_HUMAN	histone cluster 1, H4d	74					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)	8		all_hematologic(11;0.196)				TGGCGTGTTCCGTGTAGGTGA	0.552000													6	119					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029488	71029488	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:71029488C>T	ENST00000334414.6	-	2	458	c.414G>A	c.(412-414)gaG>gaA	p.E138E	PTPRB_ENST00000551525.1_Silent_p.E137E|PTPRB_ENST00000550358.1_Silent_p.E138E|PTPRB_ENST00000538174.2_5'UTR	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCAGTTTTCCCTCCTTGTTGA	0.413000													10	39					0	0	1	0	0
SYPL1	6856	broad.mit.edu	37	7	105752935	105752935	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:105752935C>G	ENST00000011473.2	-	1	87	c.41G>C	c.(40-42)cGa>cCa	p.R14P		NM_006754.3	NP_006745.1	Q16563	SYPL1_HUMAN	synaptophysin-like 1	14					synaptic transmission	cytoplasmic vesicle membrane|integral to plasma membrane|melanosome|synaptic vesicle	transporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	7						ctggccgagtcgactgatccg	0.711000													7	14					0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64009862	64009862	+	Translation_Start_Site	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:64009862G>A	ENST00000394540.3	+	2	473	c.3G>A	c.(1-3)atG>atA	p.M1I	FKBP2_ENST00000449942.2_Start_Codon_SNP_p.M1I|FKBP2_ENST00000309366.4_Start_Codon_SNP_p.M1I	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	1					protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						ACAGAGACATGAGGCTGAGCT	0.647000													5	84					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965570	88965570	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:88965570C>G	ENST00000333190.4	+	4	3883	c.3274C>G	c.(3274-3276)Caa>Gaa	p.Q1092E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1092						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AACAGAGACCCAAGAAGACCA	0.368000										HNSCC(36;0.09)			9	59					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5212132	5212132	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:5212132C>A	ENST00000372412.4	-	32	5135	c.4902G>T	c.(4900-4902)caG>caT	p.Q1634H	PTPRS_ENST00000587303.1_Missense_Mutation_p.Q1633H|PTPRS_ENST00000357368.4_Missense_Mutation_p.Q1633H|PTPRS_ENST00000348075.2_Missense_Mutation_p.Q1595H|PTPRS_ENST00000592099.1_Missense_Mutation_p.Q1186H|PTPRS_ENST00000262963.6_Missense_Mutation_p.Q1613H|PTPRS_ENST00000353284.2_Missense_Mutation_p.Q1186H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.Q1595H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1633	Tyrosine-protein phosphatase 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGTCCTCCGTCTGCACCATGT	0.592000													4	81					0.184627	0.185515	1	1	0
LIG3	3980	broad.mit.edu	37	17	33325307	33325307	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:33325307G>C	ENST00000378526.4	+	13	2114	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	LIG3_ENST00000262327.5_Missense_Mutation_p.D661H	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	661					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	GGTGCTGAAGGATGTGAAGGT	0.577000								Other BER factors			OREG0024326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	54					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144902853	144902853	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:144902853G>A	ENST00000526683.1	-	5	886	c.331C>T	c.(331-333)Ctc>Ttc	p.L111F	PUF60_ENST00000453551.2_Missense_Mutation_p.L68F|PUF60_ENST00000456095.2_Missense_Mutation_p.L82F|PUF60_ENST00000349157.6_Intron|PUF60_ENST00000313352.7_Intron|PUF60_ENST00000524570.1_5'UTR|PUF60_ENST00000527197.1_Intron	NM_001271098.1|NM_078480.1	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	111	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AAAGGTGAGAGAGGATCTCCA	0.547000													34	398					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15726004	15726004	+	Splice_Site	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:15726004G>C	ENST00000378076.3	-	4	920	c.568_splice	c.e4+1	p.N189_splice		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	189					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						GTTGCTTACTGTTCCGGCAAG	0.453000													26	93					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	91972526	91972526	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:91972526G>A	ENST00000265742.3	+	6	1352	c.976G>A	c.(976-978)Ggg>Agg	p.G326R		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	326							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTATCTCCTGGGGATTTAGA	0.418000													19	30					0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95081327	95081327	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:95081327C>A	ENST00000553947.1	+	5	1512	c.624C>A	c.(622-624)taC>taA	p.Y208*	SERPINA3_ENST00000467132.1_Nonsense_Mutation_p.Y183*|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Nonsense_Mutation_p.Y183*|SERPINA3_ENST00000393078.3_Nonsense_Mutation_p.Y183*			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	183					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCAACGACTACGTGAAGAATG	0.488000													18	94					0.000566183	0.000619541	1	1	0
SGIP1	84251	broad.mit.edu	37	1	67133223	67133223	+	Splice_Site	SNP	C	C	A	rs17855645		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:67133223C>A	ENST00000371037.4	+	9	559	c.483_splice	c.e9+1	p.P161_splice	SGIP1_ENST00000371035.3_Splice_Site_p.P118_splice|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Splice_Site_p.P165_splice|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000468286.1_Intron	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	161			P -> Q (in dbSNP:rs17855645).		positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGGCGCAGCCCGGTAAGAACT	0.418000													19	120					1.33834e-09	1.73734e-09	1	1	0
SLC6A1	6529	broad.mit.edu	37	3	11071038	11071038	+	Splice_Site	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:11071038G>T	ENST00000287766.4	+	12	1744	c.1323_splice	c.e12+1	p.Q441_splice	SLC6A1_ENST00000536032.1_Splice_Site_p.Q263_splice	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	441					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	ACATCACTCAGGTAAGCTCAG	0.582000													8	14					1.12685e-05	1.30117e-05	1	1	0
MCM3	4172	broad.mit.edu	37	6	52141880	52141880	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:52141880T>C	ENST00000596288.1	-	8	1312	c.1285A>G	c.(1285-1287)Aca>Gca	p.T429A	MCM3_ENST00000419835.2_Missense_Mutation_p.T338A|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000229854.7_Missense_Mutation_p.T384A	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	384	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					TCCTGGTCTGTGGTGACAGCA	0.577000													19	70					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166025292	166025292	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:166025292C>G	ENST00000360093.3	-	5	918	c.427G>C	c.(427-429)Gta>Cta	p.V143L	SCN3A_ENST00000409101.3_Missense_Mutation_p.V143L|SCN3A_ENST00000283254.7_Missense_Mutation_p.V143L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	143						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATAAATACACAGTTGGTC	0.353000													8	98					0	0	1	0	0
SLC43A3	29015	broad.mit.edu	37	11	57176755	57176755	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:57176755A>C	ENST00000395123.2	-	13	1568	c.1264T>G	c.(1264-1266)Ttt>Gtt	p.F422V	SLC43A3_ENST00000533524.1_Missense_Mutation_p.F435V|SLC43A3_ENST00000529554.1_Missense_Mutation_p.F422V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.F422V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.F422V|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.F66V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	422					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						AGCTTGCCAAAGTGCTCTGAA	0.592000													4	103					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58511176	58511176	+	Splice_Site	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:58511176C>T	ENST00000341164.4	-	4	797	c.177_splice	c.e4+1	p.Q59_splice	ZNF606_ENST00000547828.1_Silent_p.Q59Q|ZNF606_ENST00000547121.1_Silent_p.Q59Q|ZNF606_ENST00000536132.1_Intron|ZNF606_ENST00000552579.1_Intron	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		CCCATCTCACCTGAACCTGGG	0.587000													22	75					0	0	1	0	0
SPATA31A3	727830	broad.mit.edu	37	9	40702806	40702806	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:40702806C>A	ENST00000356699.5	+	4	492	c.463C>A	c.(463-465)Ccg>Acg	p.P155T	SPATA31A3_ENST00000463536.1_3'UTR	NM_001083124.1	NP_001076593.1			SPATA31 subfamily A, member 3																		GTTAGCTTCCCCGGATCCTCA	0.602000													83	433					3.90494e-43	6.35123e-43	1	1	0
IL17A	3605	broad.mit.edu	37	6	52054018	52054018	+	Silent	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:52054018C>G	ENST00000340057.1	+	3	441	c.396C>G	c.(394-396)tcC>tcG	p.S132S		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	132					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					GCCCCAACTCCTTCCGGCTGG	0.597000													5	62					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168638	142168638	+	RNA	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:142168638G>T	ENST00000454561.2	-	0	285																											TTGATCAGGTGTGTGGGACTT	0.562000													22	54					2.12542e-12	2.91286e-12	1	1	0
PTCD1	26024	broad.mit.edu	37	7	99032657	99032657	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:99032657G>A	ENST00000292478.4	-	2	459	c.209C>T	c.(208-210)cCg>cTg	p.P70L	PTCD1_ENST00000555673.1_Missense_Mutation_p.P119L|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.P119L	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GGAGTGGCTCGGGTCAGAGCC	0.632000													30	65					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36684408	36684408	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr22:36684408C>A	ENST00000216181.5	-	34	5052	c.4822G>T	c.(4822-4824)Gca>Tca	p.A1608S		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1608					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCGGCCACTGCCATCGAGCGC	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				29	93					1.5548e-18	2.31283e-18	1	1	0
TCTEX1D1	200132	broad.mit.edu	37	1	67220451	67220451	+	Missense_Mutation	SNP	G	G	T	rs142969820		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:67220451G>T	ENST00000282670.2	+	2	238	c.110G>T	c.(109-111)cGc>cTc	p.R37L	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	37										large_intestine(2)|lung(10)|skin(1)	13						ATTCATGGGCGCATCAAAGAG	0.353000													5	31					0.000602214	0.000657247	1	1	0
HEATR6	63897	broad.mit.edu	37	17	58124715	58124715	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:58124715C>G	ENST00000184956.6	-	18	2740	c.2724G>C	c.(2722-2724)ttG>ttC	p.L908F	HEATR6_ENST00000585976.1_Missense_Mutation_p.L796F	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	908							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTAACATTTTCAAGAGCAGGA	0.408000													6	119					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162891712	162891712	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:162891712G>A	ENST00000360534.3	-	9	1296	c.736C>T	c.(736-738)Ctg>Ttg	p.L246L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	246					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GGGTACTGCAGTGACTCATCA	0.433000													22	81					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179393495	179393495	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:179393495G>T	ENST00000589042.1	-	360	107207	c.106983C>A	c.(106981-106983)acC>acA	p.T35661T	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN_ENST00000342992.6_Silent_p.T33093T|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000342175.6_Silent_p.T26788T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000591111.1_Silent_p.T34020T|TTN_ENST00000359218.5_Silent_p.T26721T|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Silent_p.T26596T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	34020							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)			TGATGGTTAGGGTCTGATCGC	0.478000													5	20					0.014758	0.0150827	1	1	0
CARD11	84433	broad.mit.edu	37	7	2966389	2966389	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:2966389G>A	ENST00000396946.4	-	14	2194	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	597					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	p.D590D(1)		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)		GATCTAAGGCGTCAAACCCGC	0.577000			Mis		DLBCL								3	26					0	0	1	0	0
TCF12	6938	broad.mit.edu	37	15	57484420	57484420	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:57484420C>G	ENST00000267811.5	+	7	759	c.455C>G	c.(454-456)cCt>cGt	p.P152R	TCF12_ENST00000557843.1_Missense_Mutation_p.P152R|TCF12_ENST00000452095.2_Missense_Mutation_p.P148R|TCF12_ENST00000333725.5_Missense_Mutation_p.P152R|TCF12_ENST00000438423.2_Missense_Mutation_p.P152R	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	152					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCAGGAAAACCTGGGACAGCA	0.468000			T	TEC	extraskeletal myxoid chondrosarcoma								13	92					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34883752	34883752	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:34883752C>G	ENST00000381831.3	-	17	2384	c.2121G>C	c.(2119-2121)tgG>tgC	p.W707C	GART_ENST00000543717.1_Missense_Mutation_p.W259C|GART_ENST00000381815.4_Missense_Mutation_p.W707C|GART_ENST00000381839.3_Missense_Mutation_p.W707C	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	707	AIRS.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TGGGGATCCTCCAGGTCTGGG	0.453000													69	135					0	0	1	0	0
DLL1	28514	broad.mit.edu	37	6	170594755	170594755	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:170594755T>A	ENST00000366756.3	-	6	1097	c.764A>T	c.(763-765)gAc>gTc	p.D255V		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	255					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GATACACTCGTCACAGTACCG	0.592000													25	46					0	0	1	0	0
SCP2D1	140856	broad.mit.edu	37	20	18794880	18794880	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:18794880C>T	ENST00000377428.2	+	1	511	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	C20orf78_ENST00000278779.4_Intron	NM_178483.2	NP_848578.1			SCP2 sterol-binding domain containing 1																		TGGCAAGGTTCTGCTTAGCTG	0.443000													15	95					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368991	22368991	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:22368991G>A	ENST00000332663.2	+	1	514	c.416G>A	c.(415-417)cGt>cAt	p.R139H	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		ATGAATCAACGTCTCTGCTGT	0.517000													11	414					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133855073	133855073	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:133855073A>T	ENST00000395386.2	+	19	3000	c.2701A>T	c.(2701-2703)Aaa>Taa	p.K901*	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.K876*|PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.K288*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	901							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATGAGAAGTAAAAACAGTTT	0.378000													32	155					0	0	1	0	0
CIRH1A	84916	broad.mit.edu	37	16	69202788	69202788	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:69202788A>G	ENST00000314423.7	+	17	2186	c.2009A>G	c.(2008-2010)gAc>gGc	p.D670G	CIRH1A_ENST00000352319.4_Missense_Mutation_p.D555G			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	670						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTCTGGATGACATCATTGCT	0.448000													4	133					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530986	84530986	+	RNA	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:84530986A>T	ENST00000527857.1	+	0	1008					NR_026851.1																						CACAGTATTGAAGCCTTTTCC	0.478000													3	7					0	0	1	0	0
EPN1	29924	broad.mit.edu	37	19	56203203	56203203	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:56203203G>T	ENST00000411543.2	+	7	1651	c.1104G>T	c.(1102-1104)atG>atT	p.M368I	EPN1_ENST00000270460.6_Missense_Mutation_p.M282I|EPN1_ENST00000085079.7_Missense_Mutation_p.M257I	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	282	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		CAGCACCCATGGCTGCTGCCG	0.726000													30	88					5.45727e-16	7.92062e-16	1	1	0
PCDHA1	56147	broad.mit.edu	37	5	140167382	140167382	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:140167382G>T	ENST00000504120.2	+	1	1507	c.1507G>T	c.(1507-1509)Gcg>Tcg	p.A503S	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A503S|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A503S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGAGCGCGCGCTGTCGAA	0.677000													48	71					1.61004e-24	2.48338e-24	1	1	0
B4GALNT2	124872	broad.mit.edu	37	17	47236476	47236476	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:47236476G>A	ENST00000300404.2	+	6	815	c.756G>A	c.(754-756)caG>caA	p.Q252Q	B4GALNT2_ENST00000504681.1_Silent_p.Q166Q|B4GALNT2_ENST00000393354.2_Silent_p.Q192Q	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	252					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GCAGAGGCCAGAAGCAGCTGA	0.542000													62	196					0	0	1	0	0
ADCY2	108	broad.mit.edu	37	5	7690896	7690896	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:7690896G>T	ENST00000338316.4	+	5	902	c.813G>T	c.(811-813)caG>caT	p.Q271H	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Missense_Mutation_p.Q91H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	271					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						AGGCGGGCCAGATGGAGAACA	0.577000													14	53					1.5842e-08	1.99457e-08	1	1	0
KANK1	23189	broad.mit.edu	37	9	730219	730219	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:730219C>A	ENST00000382303.1	+	8	3519	c.2867C>A	c.(2866-2868)aCa>aAa	p.T956K	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Missense_Mutation_p.T798K|KANK1_ENST00000382297.2_Missense_Mutation_p.T956K	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	956					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTGAACCTGACAGACGACCAG	0.532000													9	67					0.000978159	0.00106477	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133887549	133887549	+	Splice_Site	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:133887549C>A	ENST00000409261.1	-	6	715		c.e6+1		NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site|NCKAP5_ENST00000409213.1_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5								protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AAGAACAATACCTGGAGAACT	0.478000													8	19					0.000157383	0.000174963	1	1	0
KCNT1	57582	broad.mit.edu	37	9	138667165	138667165	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:138667165G>C	ENST00000298480.5	+	20	2327	c.2253G>C	c.(2251-2253)aaG>aaC	p.K751N	KCNT1_ENST00000486577.2_Missense_Mutation_p.K710N|KCNT1_ENST00000371757.2_Missense_Mutation_p.K751N|KCNT1_ENST00000491806.2_Missense_Mutation_p.K718N|KCNT1_ENST00000490355.2_Missense_Mutation_p.K730N|KCNT1_ENST00000263604.3_Missense_Mutation_p.K732N|KCNT1_ENST00000488444.2_Missense_Mutation_p.K732N|KCNT1_ENST00000487664.1_Missense_Mutation_p.K706N			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	751						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GGTATGTGAAGGGCTACCCTC	0.662000													26	52					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118460536	118460536	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:118460536T>A	ENST00000369209.3	-	4	463	c.359A>T	c.(358-360)gAc>gTc	p.D120V		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	120							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ATGGTAAAAGTCCCTGGCGGC	0.567000													30	109					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53686094	53686094	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:53686094G>A	ENST00000257934.4	+	28	5920	c.5829G>A	c.(5827-5829)gtG>gtA	p.V1943V	ESPL1_ENST00000552462.1_Silent_p.V1943V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1943					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GTCAAGGGGTGGATCCACGAA	0.537000													52	80					0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61323161	61323161	+	Silent	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:61323161G>C	ENST00000283752.5	-	8	1046	c.903C>G	c.(901-903)acC>acG	p.T301T	SERPINB3_ENST00000332821.8_Silent_p.T249T|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	301					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCATTCCCATGGTTCTCAACG	0.502000													21	96					0	0	1	0	0
RP11-80F22.9	0	broad.mit.edu	37	16	34712270	34712270	+	RNA	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:34712270G>T	ENST00000569028.2	-	0	1084																											GCCCAGGCAAGGGATGGGCTT	0.557000													7	13					8.12818e-05	9.08444e-05	1	1	0
PCNXL3	399909	broad.mit.edu	37	11	65392484	65392484	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:65392484C>T	ENST00000355703.3	+	16	3455	c.2916C>T	c.(2914-2916)atC>atT	p.I972I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	972						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TTGGGGCCATCAAGGTAGGGG	0.662000													5	34					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158330991	158330991	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:158330991G>A	ENST00000392185.3	+	9	1054	c.883G>A	c.(883-885)Gag>Aag	p.E295K		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	295	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGGTTATATGAGCGTCTCCT	0.413000													10	73					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193938	152193938	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:152193938A>C	ENST00000368801.2	-	3	242	c.167T>G	c.(166-168)aTc>aGc	p.I56S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	56	EF-hand 2.|S-100-like.				keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGCAAGATGATATCCACAGT	0.378000													7	43					0	0	1	0	0
PRKAB2	5565	broad.mit.edu	37	1	146639354	146639354	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:146639354C>T	ENST00000254101.3	-	3	453	c.315G>A	c.(313-315)ctG>ctA	p.L105L	PRKAB2_ENST00000425272.2_Intron	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	105					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	ACCTCTTAATCAGTGGAATCT	0.502000													14	197					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164776792	164776792	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:164776792A>T	ENST00000264382.3	-	12	1419	c.1357T>A	c.(1357-1359)Tgg>Agg	p.W453R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	453	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCATTTATCCACACATGTTGT	0.348000										HNSCC(35;0.089)			19	20					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65245930	65245930	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:65245930G>C	ENST00000389722.3	-	21	4561	c.4508C>G	c.(4507-4509)tCa>tGa	p.S1503*	SPTB_ENST00000556626.1_Nonsense_Mutation_p.S1503*|SPTB_ENST00000542895.1_Nonsense_Mutation_p.S1503*|SPTB_ENST00000389720.3_Nonsense_Mutation_p.S1503*|SPTB_ENST00000389721.5_Nonsense_Mutation_p.S1503*	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1503					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ATAGTCGGCTGACTGGGCCAG	0.582000													6	35					0	0	1	0	0
NPAS3	64067	broad.mit.edu	37	14	33684585	33684585	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:33684585C>A	ENST00000346562.2	+	2	322	c.248C>A	c.(247-249)cCg>cAg	p.P83Q	NPAS3_ENST00000551008.1_Missense_Mutation_p.P11Q|NPAS3_ENST00000357798.5_Missense_Mutation_p.P83Q|NPAS3_ENST00000547068.1_Missense_Mutation_p.P11Q|NPAS3_ENST00000548645.1_Missense_Mutation_p.P83Q|NPAS3_ENST00000356141.4_Missense_Mutation_p.P113Q|NPAS3_ENST00000341321.4_Missense_Mutation_p.P113Q|NPAS3_ENST00000551492.1_Missense_Mutation_p.P120Q	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	113	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGGGACCCTCCGTGGAACTTG	0.478000													16	57					2.32078e-09	2.9941e-09	1	1	0
INTS1	26173	broad.mit.edu	37	7	1521021	1521021	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:1521021C>A	ENST00000389470.4	-	29	4292	c.4293G>T	c.(4291-4293)gtG>gtT	p.V1431V	INTS1_ENST00000404767.3_Silent_p.V1269V			Q8N201	INT1_HUMAN	integrator complex subunit 1	1269					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGTCGTGGGCCACTGCCTGGT	0.622000													13	52					0.0167234	0.0170082	1	1	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254873	24254873	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:24254873G>T	ENST00000538205.1	+	7	841	c.294G>T	c.(292-294)caG>caT	p.Q98H	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.Q98H|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.Q177H	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	177					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CATCTAACCAGGAGGAACAAG	0.458000													9	199					4.68919e-08	5.81626e-08	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168107532	168107532	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:168107532G>T	ENST00000409195.1	+	9	9719	c.9630G>T	c.(9628-9630)aaG>aaT	p.K3210N	XIRP2_ENST00000409273.1_Missense_Mutation_p.K2988N|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K3210N|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3035					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTGTAGAGAAGAGGTCTGAAA	0.458000													4	106					0.00909568	0.00938764	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50952707	50952707	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:50952707G>T	ENST00000374103.4	-	13	1806	c.1721C>A	c.(1720-1722)tCc>tAc	p.S574Y	OGDHL_ENST00000419399.1_Missense_Mutation_p.S517Y|OGDHL_ENST00000432695.1_Missense_Mutation_p.S365Y	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	574					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			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						AGGCCAGGGGGAGTCCAACCA	0.547000													16	65					3.41278e-10	4.51438e-10	1	1	0
OR6M1	390261	broad.mit.edu	37	11	123676834	123676834	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:123676834A>G	ENST00000309154.2	-	1	261	c.224T>C	c.(223-225)aTt>aCt	p.I75T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CTTTGGGGTAATGACAGTGGT	0.428000													39	137					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65871960	65871960	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:65871960C>T	ENST00000395644.4	-	12	1678	c.1343G>A	c.(1342-1344)gGt>gAt	p.G448D	VWA9_ENST00000313182.2_Missense_Mutation_p.G448D|VWA9_ENST00000420799.2_Missense_Mutation_p.G391D|VWA9_ENST00000442903.3_Missense_Mutation_p.G412D|VWA9_ENST00000569491.1_Missense_Mutation_p.G398D|VWA9_ENST00000431261.2_Missense_Mutation_p.G369D|VWA9_ENST00000567744.1_Missense_Mutation_p.G484D					von Willebrand factor A domain containing 9																		GTCCAGGAAACCAAAGGCTAG	0.507000													5	68					0	0	1	0	0
DUSP16	80824	broad.mit.edu	37	12	12630491	12630491	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:12630491T>G	ENST00000228862.2	-	7	1905	c.1274A>C	c.(1273-1275)gAt>gCt	p.D425A	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	425					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		TTCCAAAGCATCTTCTGATGA	0.473000													29	76					0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658571	49658571	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:49658571G>C	ENST00000249601.4	-	9	1897	c.1601C>G	c.(1600-1602)gCc>gGc	p.A534G	ARHGAP22_ENST00000417912.2_Missense_Mutation_p.A550G|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.A444G|ARHGAP22_ENST00000477708.2_Missense_Mutation_p.A367G|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.A540G|ARHGAP22_ENST00000374172.1_Missense_Mutation_p.A425G|ARHGAP22_ENST00000374170.1_Missense_Mutation_p.A375G	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	534	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGAGTCGCTGGCGCGGCAGGC	0.721000													5	7					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57537198	57537198	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:57537198G>T	ENST00000371236.2	-	6	818	c.555C>A	c.(553-555)taC>taA	p.Y185*	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Nonsense_Mutation_p.Y185*|DAB1_ENST00000371231.1_Nonsense_Mutation_p.Y185*|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Nonsense_Mutation_p.Y185*|DAB1_ENST00000420954.2_Nonsense_Mutation_p.Y185*|DAB1_ENST00000371234.4_Nonsense_Mutation_p.Y185*			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	185	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GGTATACCTGGTACACAGCTT	0.408000													4	65					0.00909568	0.00938764	1	1	0
FAT1	2195	broad.mit.edu	37	4	187518154	187518154	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:187518154C>A	ENST00000441802.2	-	25	12749	c.12540G>T	c.(12538-12540)gcG>gcT	p.A4180A		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4180					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CAATTCCTTCCGCCAACCCAA	0.512000										HNSCC(5;0.00058)			43	89					4.01765e-15	5.77106e-15	1	1	0
C1QTNF2	114898	broad.mit.edu	37	5	159781901	159781901	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:159781901C>A	ENST00000393975.3	-	2	256	c.253G>T	c.(253-255)Ggc>Tgc	p.G85C		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	40	Collagen-like.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTGGGGGCCAGGCAGGCTG	0.677000													10	12					0.010729	0.0110462	1	1	0
CACNA1B	774	broad.mit.edu	37	9	141008931	141008931	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:141008931G>T	ENST00000277549.5	+	41	5789	c.3220G>T	c.(3220-3222)Ggc>Tgc	p.G1074C	CACNA1B_ENST00000371355.4_Missense_Mutation_p.G1881C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.G1879C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.G1878C|CACNA1B_ENST00000371372.1_Missense_Mutation_p.G1880C|CACNA1B_ENST00000277551.2_Missense_Mutation_p.G1880C			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1880					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCTCCTGGAGGCCTCTCCCA	0.557000													3	6					0.004672	0.00485795	1	1	0
ITGBL1	9358	broad.mit.edu	37	13	102105209	102105209	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:102105209T>C	ENST00000376180.3	+	1	244	c.25T>C	c.(25-27)Ttc>Ctc	p.F9L	ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	9					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTCAGGAACTTCTTGCTGCT	0.577000													26	136					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22790885	22790885	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:22790885G>T	ENST00000400546.1	+	11	1725	c.1476G>T	c.(1474-1476)ttG>ttT	p.L492F	NCAM2_ENST00000284894.7_Missense_Mutation_p.L350F	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	492					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TTCTTGCTTTGGCTGGTAAGT	0.338000													8	72					0.00307968	0.00323444	1	1	0
SRGAP2	23380	broad.mit.edu	37	1	206623810	206623810	+	Splice_Site	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:206623810G>A	ENST00000414007.1	+	15	1759	c.1759_splice	c.e15+1	p.E587_splice	SRGAP2_ENST00000419187.2_Splice_Site_p.E32_splice|SRGAP2_ENST00000471256.1_3'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	727	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GAGCGATGACGGTACGAGGCC	0.562000													3	22					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62604692	62604692	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:62604692C>G	ENST00000281156.4	-	6	936	c.658G>C	c.(658-660)Gtt>Ctt	p.V220L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	220	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGGGTGAGAACACCTCGTCCA	0.597000													9	40					0	0	1	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269348	30269348	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:30269348C>A	ENST00000378981.3	+	4	1059	c.738C>A	c.(736-738)acC>acA	p.T246T	MAGEB1_ENST00000397548.2_Silent_p.T246T|MAGEB1_ENST00000397550.1_Silent_p.T246T	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	246	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGTTCATCACCCAAGATCTGG	0.493000													9	22					0.000442599	0.000485581	1	1	0
PAGE1	8712	broad.mit.edu	37	X	49458731	49458731	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:49458731C>G	ENST00000376150.3	-	3	269	c.137G>C	c.(136-138)aGa>aCa	p.R46T		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	46					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTCATCCTCTCTCTCTTCAGC	0.498000													3	14					0	0	1	0	0
PRKCB	5579	broad.mit.edu	37	16	24196453	24196453	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:24196453G>A	ENST00000303531.7	+	14	1707	c.1555G>A	c.(1555-1557)Ggg>Agg	p.G519R	PRKCB_ENST00000321728.7_Missense_Mutation_p.G519R	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	519	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCAGCCCTATGGGAAGTCCGT	0.433000													34	79					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112087039	112087039	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:112087039A>T	ENST00000357685.5	+	11	1747	c.1612A>T	c.(1612-1614)Atc>Ttc	p.I538F	BCO2_ENST00000526088.1_Missense_Mutation_p.I498F|BCO2_ENST00000438022.1_Missense_Mutation_p.I504F|BCO2_ENST00000393032.2_Missense_Mutation_p.I504F|BCO2_ENST00000361053.4_Missense_Mutation_p.I465F|BCO2_ENST00000531169.1_Missense_Mutation_p.I504F|BCO2_ENST00000532593.1_Missense_Mutation_p.I433F			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	538					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TTCTGTGGTGATCACTCCCAA	0.428000													16	51					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115536884	115536884	+	Splice_Site	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:115536884G>T	ENST00000354462.3	+	5	441	c.281_splice	c.e5-1	p.V95_splice	PLEKHS1_ENST00000369309.1_Splice_Site_p.V179_splice|PLEKHS1_ENST00000369310.3_Splice_Site_p.V345_splice|PLEKHS1_ENST00000369312.4_Splice_Site_p.V263_splice|PLEKHS1_ENST00000361048.1_Intron					pleckstrin homology domain containing, family S member 1																		CCACTGCAGTGTGTCTCAGTG	0.572000													11	30					5.50884e-06	6.45012e-06	1	1	0
HIST1H2BG	8339	broad.mit.edu	37	6	26216683	26216683	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:26216683C>A	ENST00000244601.3	-	1	189	c.189G>T	c.(187-189)atG>atT	p.M63I		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	63					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CGAAGGAATTCATGATGCCCA	0.537000													118	174					2.76928e-52	4.53945e-52	1	1	0
ATR	545	broad.mit.edu	37	3	142272202	142272202	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:142272202T>G	ENST00000350721.4	-	13	2793	c.2672A>C	c.(2671-2673)cAc>cCc	p.H891P	ATR_ENST00000383101.3_Missense_Mutation_p.H827P	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	891					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ATGCAATAAGTGTAAGAGTGC	0.383000								Other conserved DNA damage response genes					25	50					0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203696697	203696697	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:203696697C>G	ENST00000357681.5	+	20	4430	c.3307C>G	c.(3307-3309)Cag>Gag	p.Q1103E	ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000367219.3_Missense_Mutation_p.Q1091E|ATP2B4_ENST00000391954.2_Missense_Mutation_p.Q1067E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.Q1103E|ATP2B4_ENST00000341360.2_Missense_Mutation_p.Q1103E	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1103	Calmodulin-binding subdomain A.				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TATCCAGACTCAGGTACTCTG	0.572000													26	69					0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49961597	49961597	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:49961597A>T	ENST00000376056.2	-	4	344	c.194T>A	c.(193-195)cTg>cAg	p.L65Q	AKAP4_ENST00000358526.2_Missense_Mutation_p.L74Q|AKAP4_ENST00000376058.2_Missense_Mutation_p.L65Q|AKAP4_ENST00000376064.3_Missense_Mutation_p.L65Q|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	74					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTTCTTCCAGACTTCCCAG	0.408000													14	37					0	0	1	0	0
POU2AF1	5450	broad.mit.edu	37	11	111224994	111224994	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:111224994C>T	ENST00000393067.3	-	5	1277	c.763G>A	c.(763-765)Ggc>Agc	p.G255S		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	255					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GCCTAAAAGCCTTCCACAGAG	0.527000			T	BCL6	NHL								10	54					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811206	23811206	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:23811206G>A	ENST00000314520.3	+	1	753	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	MKRN3_ENST00000564592.1_Missense_Mutation_p.G93S|MKRN3_ENST00000568252.1_Missense_Mutation_p.G93S	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	93						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CCGAAGCAGCGGCATTTGGAC	0.592000													18	81					0	0	1	0	0
HDDC2	51020	broad.mit.edu	37	6	125597375	125597375	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:125597375G>A	ENST00000398153.1	-	6	735	c.532C>T	c.(532-534)Cct>Tct	p.P178S	HDDC2_ENST00000368377.4_Missense_Mutation_p.P144S	NM_016063.2	NP_057147.2	Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	178							metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		ACTATCTCAGGGTGATTGAAT	0.438000													13	52					0	0	1	0	0
KRTAP19-5	337972	broad.mit.edu	37	21	31874311	31874311	+	Missense_Mutation	SNP	C	C	T	rs138658815		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:31874311C>T	ENST00000334151.2	-	1	124	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	33						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						GCCCAGTCTGCGGAAGCTGCC	0.582000													67	190					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427292	135427292	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:135427292C>A	ENST00000394143.1	+	6	1718	c.1427C>A	c.(1426-1428)aCa>aAa	p.T476K	GPR112_ENST00000370652.1_Missense_Mutation_p.T476K|GPR112_ENST00000412101.1_Missense_Mutation_p.T271K|GPR112_ENST00000394141.1_Missense_Mutation_p.T271K|GPR112_ENST00000287534.4_Missense_Mutation_p.T413K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	476					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTCATCTCCACAGCTGCTCCA	0.448000													9	39					2.17888e-05	2.48844e-05	1	1	0
PAPOLA	10914	broad.mit.edu	37	14	96993796	96993796	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:96993796C>T	ENST00000216277.8	+	5	581	c.361C>T	c.(361-363)Cca>Tca	p.P121S	PAPOLA_ENST00000557320.1_Missense_Mutation_p.P121S|PAPOLA_ENST00000557471.1_Missense_Mutation_p.P121S|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.P121S	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	121					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTGTGTTGCACCAAGACATGT	0.343000													4	44					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660555	90660555	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:90660555C>G	ENST00000257749.4	-	7	1977	c.1270G>C	c.(1270-1272)Gga>Cga	p.G424R	BACH2_ENST00000343122.3_Missense_Mutation_p.G424R|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.G424R	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	424						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCCAGCTCTCCCTCCTGTTTA	0.582000													15	51					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162877172	162877172	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:162877172G>T	ENST00000360534.3	-	13	1655	c.1095C>A	c.(1093-1095)acC>acA	p.T365T		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	365					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TACCATCAAGGGTAAAATGAG	0.323000													6	54					0.00198382	0.00212081	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150174811	150174811	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:150174811C>T	ENST00000307271.3	+	5	2515	c.1941C>T	c.(1939-1941)gtC>gtT	p.V647V		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	647						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTAAAAATGTCCAGGAAATGT	0.408000													17	146					0	0	1	0	0
OAT	4942	broad.mit.edu	37	10	126089481	126089481	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:126089481G>C	ENST00000368845.5	-	9	1179	c.1087C>G	c.(1087-1089)Cta>Gta	p.L363V	OAT_ENST00000539214.1_Missense_Mutation_p.L225V	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	363					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	TCAGAAGGTAGCTTCATGAGT	0.318000													9	25					0	0	1	0	0
HJURP	55355	broad.mit.edu	37	2	234749978	234749978	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:234749978C>T	ENST00000411486.2	-	8	1513	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	HJURP_ENST00000441687.1_Missense_Mutation_p.R398H|HJURP_ENST00000432087.1_Missense_Mutation_p.R429H	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	483					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACTCAGCCTGCGGGTTTCTAA	0.547000													20	106					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802559	185802559	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:185802559G>T	ENST00000302277.6	+	4	3030	c.2436G>T	c.(2434-2436)cgG>cgT	p.R812R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	812						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						AAAAGAAACGGAGGCGAAAAA	0.393000													8	62					0.000274275	0.000301703	1	1	0
PNN	5411	broad.mit.edu	37	14	39650547	39650547	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:39650547T>C	ENST00000216832.4	+	9	1701	c.1634T>C	c.(1633-1635)gTc>gCc	p.V545A	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	545					cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTAGAGCCAGTCTTGACAGTA	0.453000													21	145					0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643303	1643303	+	Silent	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:1643303A>G	ENST00000399682.1	-	1	65	c.21T>C	c.(19-21)tcT>tcC	p.S7S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	7						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cacagcctcCAGAGCAGCCAC	0.682000													5	271					0	0	1	0	0
AC015849.16	0	broad.mit.edu	37	17	34235957	34235957	+	RNA	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:34235957G>C	ENST00000587132.1	-	0	2070																											AGTCAGGTTTGGATGCTGAGC	0.483000													17	58					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37117086	37117086	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:37117086G>C	ENST00000435416.1	+	3	1779	c.284G>C	c.(283-285)aGg>aCg	p.R95T	ZNF382_ENST00000423582.1_Missense_Mutation_p.R47T|ZNF382_ENST00000439428.1_Missense_Mutation_p.R95T|ZNF382_ENST00000292928.2_Missense_Mutation_p.R96T			Q96SR6	ZN382_HUMAN	zinc finger protein 382	96	Mediates interaction with TRIM28 (By similarity).|Represses transcription (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TACCAAGACAGGCATTCTAGA	0.338000													16	26					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33623925	33623925	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:33623925A>G	ENST00000291416.5	-	4	1039	c.806T>C	c.(805-807)tTc>tCc	p.F269S	TRIM62_ENST00000543586.1_Missense_Mutation_p.F148S	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	269						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAGGTCGGGAAGTCTTCATA	0.557000													29	80					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147926772	147926772	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:147926772C>A	ENST00000361727.3	+	20	3798	c.3282C>A	c.(3280-3282)acC>acA	p.T1094T	CNTNAP2_ENST00000538075.1_Silent_p.T153T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1094	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGGTGGCACCCGAGAGCCAT	0.453000										HNSCC(39;0.1)			18	41					5.3912e-06	6.33012e-06	1	1	0
HLA-C	3107	broad.mit.edu	37	6	31239423	31239423	+	Missense_Mutation	SNP	C	C	A	rs11547351		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:31239423C>A	ENST00000383329.3	-	2	310	c.296G>T	c.(295-297)cGa>cTa	p.R99L	HLA-C_ENST00000376228.5_Missense_Mutation_p.R99L			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	99	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CAGGCTCACTCGGTCAGCCTG	0.701000													35	78					9.8876e-21	1.49747e-20	1	1	0
GANAB	23193	broad.mit.edu	37	11	62394537	62394537	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:62394537G>C	ENST00000346178.4	-	20	2386	c.2371C>G	c.(2371-2373)Ctg>Gtg	p.L791V	GANAB_ENST00000356638.3_Missense_Mutation_p.L769V|GANAB_ENST00000540933.1_Missense_Mutation_p.L672V|GANAB_ENST00000534779.1_Missense_Mutation_p.L677V	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	769					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGGCCAGGCAGATAGACCTGG	0.532000													8	107					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356192	42356192	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:42356192C>A	ENST00000554171.1	+	5	2796	c.364C>A	c.(364-366)Ctt>Att	p.L122I	LRFN5_ENST00000554120.1_Missense_Mutation_p.L122I|LRFN5_ENST00000298119.4_Missense_Mutation_p.L122I			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	122						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTTCAGTGGTCTTTCCAATCT	0.383000										HNSCC(30;0.082)			8	50					0.27861	0.279279	1	1	0
BRINP3	339479	broad.mit.edu	37	1	190067590	190067590	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:190067590G>A	ENST00000367462.3	-	8	2090	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	FAM5C_ENST00000534846.1_Missense_Mutation_p.T518I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		620						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CTCAAAAAATGTCTTCCATTT	0.438000													50	335					0	0	1	0	0
TIMM8B	26521	broad.mit.edu	37	11	111957432	111957432	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:111957432C>T	ENST00000504148.2	-	1	87	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	TIMM8B_ENST00000507614.1_5'UTR|TIMM8B_ENST00000541231.1_Missense_Mutation_p.E21K	NM_012459.2	NP_036591.2	Q9Y5J9	TIM8B_HUMAN	translocase of inner mitochondrial membrane 8 homolog B (yeast)	6					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	protein binding|zinc ion binding			large_intestine(1)	1		all_cancers(61;1.84e-10)|all_epithelial(67;9.33e-06)|Melanoma(852;4.01e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;6.01e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.03e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0512)		TCATCGGCTTCGCCCAGCTCC	0.652000											OREG0021332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	1	0	0
ERLIN2	11160	broad.mit.edu	37	8	37611493	37611493	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:37611493A>T	ENST00000276461.5	+	12	947	c.880A>T	c.(880-882)Aag>Tag	p.K294*	ERLIN2_ENST00000519638.1_Nonsense_Mutation_p.K294*	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	294	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TTCCAACAGCAAGATTTACTT	0.428000													22	54					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63477200	63477200	+	Silent	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:63477200A>G	ENST00000536984.2	+	3	1165	c.471A>G	c.(469-471)ccA>ccG	p.P157P	CDH7_ENST00000397968.2_Silent_p.P157P|CDH7_ENST00000323011.3_Silent_p.P157P			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	157	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGGATGGCCCATACACGGCAG	0.458000													17	115					0	0	1	0	0
CEP41	95681	broad.mit.edu	37	7	130051034	130051034	+	Splice_Site	SNP	T	T	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:130051034T>G	ENST00000223208.4	-	5	478		c.e5-2		CEP41_ENST00000343969.5_Splice_Site|CEP41_ENST00000541543.1_Splice_Site	NM_001257158.1|NM_018718.2	NP_001244087.1|NP_061188.1	Q9BYV8	CEP41_HUMAN	centrosomal protein 41kDa						G2/M transition of mitotic cell cycle	centrosome|cytosol											TTGGATGATCTGATAGAAAAA	0.383000													36	74					0	0	1	0	0
RFX7	64864	broad.mit.edu	37	15	56393597	56393597	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:56393597C>T	ENST00000423270.1	-	7	770	c.771G>A	c.(769-771)aaG>aaA	p.K257K	RFX7_ENST00000422057.1_Silent_p.K160K|RFX7_ENST00000559447.2_Silent_p.K160K|RFX7_ENST00000317318.6_Silent_p.K257K	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	160					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTGCCATTGACTTGGTGCCTA	0.433000													3	16					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771401	143771401	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:143771401T>A	ENST00000408898.2	+	1	127	c.89T>A	c.(88-90)tTc>tAc	p.F30Y		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TTTGGGCTCTTCTCCCTGTTC	0.512000													39	73					0	0	1	0	0
ITGA9	3680	broad.mit.edu	37	3	37574940	37574940	+	Silent	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:37574940A>G	ENST00000264741.5	+	14	1765	c.1509A>G	c.(1507-1509)aaA>aaG	p.K503K	ITGA9_ENST00000422441.1_Silent_p.K503K	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	503					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCCATGGCAAACACGTTCCAG	0.562000													18	47					0	0	1	0	0
ZNF107	51427	broad.mit.edu	37	7	64168264	64168264	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:64168264G>A	ENST00000395391.1	+	4	2957	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	ZNF107_ENST00000344930.3_Missense_Mutation_p.E528K|ZNF107_ENST00000423627.1_Missense_Mutation_p.E528K			Q9UII5	ZN107_HUMAN	zinc finger protein 107	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CAAATGTGAAGAATTTGGCAA	0.338000													6	45					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140958702	140958702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:140958702G>A	ENST00000253811.6	-	9	1026	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	DIAPH1_ENST00000518047.1_Nonsense_Mutation_p.Q287*|DIAPH1_ENST00000520569.1_Nonsense_Mutation_p.Q242*|DIAPH1_ENST00000398557.4_Nonsense_Mutation_p.Q296*|DIAPH1_ENST00000398562.2_Nonsense_Mutation_p.Q287*|DIAPH1_ENST00000398566.3_Nonsense_Mutation_p.Q287*|DIAPH1_ENST00000389054.3_Nonsense_Mutation_p.Q296*|DIAPH1_ENST00000389057.5_Nonsense_Mutation_p.Q287*			O60610	DIAP1_HUMAN	diaphanous-related formin 1	296	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAGCGGCTGGAAACGTTCC	0.463000													131	279					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241656800	241656800	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:241656800G>A	ENST00000498729.2	-	49	5603	c.5357C>T	c.(5356-5358)tCt>tTt	p.S1786F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S1685F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1685					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CATCTGGGCAGACCTCCTTCT	0.662000													24	120					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508804	106508804	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:106508804C>G	ENST00000359195.3	+	2	1108	c.798C>G	c.(796-798)agC>agG	p.S266R	PIK3CG_ENST00000440650.2_Missense_Mutation_p.S266R|PIK3CG_ENST00000496166.1_Missense_Mutation_p.S266R	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	266					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.S266S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAAGCCAAAGCGAACAGGATT	0.552000													36	62					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616208	1616208	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:1616208C>G	ENST00000381580.1	-	4	866	c.687G>C	c.(685-687)agG>agC	p.R229S	SIRPG_ENST00000216927.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.R262S|SIRPG_ENST00000344103.4_Intron			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	262	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GGTTCCCCACCCTCATGGGCT	0.552000													16	67					0	0	1	0	0
RASGRP2	10235	broad.mit.edu	37	11	64504477	64504477	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:64504477C>A	ENST00000377494.1	-	8	1765	c.843G>T	c.(841-843)acG>acT	p.T281T	RASGRP2_ENST00000354024.3_Silent_p.T281T|RASGRP2_ENST00000377497.3_Silent_p.T281T|RASGRP2_ENST00000394432.3_Silent_p.T281T			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	281	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCCTGTCGCCGTCACTAGTT	0.612000													3	40					0.004672	0.00485795	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61565003	61565003	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:61565003C>A	ENST00000457692.1	+	6	793	c.460C>A	c.(460-462)Cag>Aag	p.Q154K	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Missense_Mutation_p.Q154K	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	154					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CTCAGAACCCCAGGCAGTAGA	0.353000													6	59					0.0215528	0.0218137	1	1	0
LRTOMT	220074	broad.mit.edu	37	11	71800178	71800178	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:71800178G>A	ENST00000324866.7	+	3	215	c.49G>A	c.(49-51)Gac>Aac	p.D17N	LRTOMT_ENST00000536917.1_Missense_Mutation_p.D17N|LRTOMT_ENST00000447974.1_Missense_Mutation_p.D17N|LRTOMT_ENST00000439209.1_Missense_Mutation_p.D17N|LRTOMT_ENST00000539587.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000289488.2_Missense_Mutation_p.D17N|LRTOMT_ENST00000539271.1_Intron|LRTOMT_ENST00000541614.1_Missense_Mutation_p.D17N|LAMTOR1_ENST00000545249.1_Intron|LRTOMT_ENST00000423494.2_Intron|LRTOMT_ENST00000419228.1_5'UTR|LRTOMT_ENST00000435085.1_5'UTR|LRTOMT_ENST00000538478.1_Missense_Mutation_p.D17N	NM_001271471.2	NP_001258400.1	Q96E66	LRC51_HUMAN	leucine rich transmembrane and O-methyltransferase domain containing	17						cytoplasm				large_intestine(2)|lung(1)|ovary(1)	4						GCCCCCTCTTGACTACTCCTT	0.532000													9	108					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947486	237947486	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:237947486C>A	ENST00000366574.2	+	90	12791	c.12474C>A	c.(12472-12474)acC>acA	p.T4158T	RYR2_ENST00000542537.1_Silent_p.T4142T|RYR2_ENST00000360064.6_Silent_p.T4164T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4158			T -> P (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGCCGAACCCAGTGGGAGA	0.493000													33	115					1.36161e-19	2.03998e-19	1	1	0
ADARB1	104	broad.mit.edu	37	21	46642025	46642025	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:46642025G>A	ENST00000539173.1	+	12	2574	c.2139G>A	c.(2137-2139)gcG>gcA	p.A713A	ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Silent_p.A713A|ADARB1_ENST00000348831.4_Silent_p.A673A|ADARB1_ENST00000389863.4_Intron	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	713	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		CCGCCAAGGCGCGTCTGTTCA	0.612000													8	51					0	0	1	0	0
USP54	159195	broad.mit.edu	37	10	75296188	75296188	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:75296188G>A	ENST00000339859.4	-	10	1083	c.983C>T	c.(982-984)cCc>cTc	p.P328L	USP54_ENST00000408019.1_Missense_Mutation_p.P328L|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000319786.7_Missense_Mutation_p.P328L|USP54_ENST00000428547.1_Missense_Mutation_p.P178L|USP54_ENST00000394811.2_5'UTR			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	328					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CTTCCATTTGGGCCCAATCTG	0.433000													13	117					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47754604	47754604	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:47754604C>T	ENST00000359568.5	+	3	668	c.561C>T	c.(559-561)gtC>gtT	p.V187V	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	187					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGTTCACAGTCAGTGACCACA	0.502000													7	108					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130023296	130023296	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:130023296G>A	ENST00000011292.3	+	5	698	c.548G>A	c.(547-549)tGg>tAg	p.W183*	CPA1_ENST00000484324.1_Nonsense_Mutation_p.W95*	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	183					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					TCCCGGGAGTGGGTCACCCAG	0.617000													18	46					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74560767	74560767	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:74560767C>A	ENST00000321288.5	+	7	1123	c.1123C>A	c.(1123-1125)Cgc>Agc	p.R375S	CCDC33_ENST00000398814.3_Missense_Mutation_p.R172S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	375							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTTCATACCCCGCTACATCGG	0.617000													9	59					2.74318e-10	3.65175e-10	1	1	0
MSH3	4437	broad.mit.edu	37	5	80040395	80040395	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:80040395A>G	ENST00000265081.6	+	12	1804	c.1724A>G	c.(1723-1725)aAg>aGg	p.K575R	MSH3_ENST00000512258.1_3'UTR	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	575					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		GGGAGACGGAAGTTAAAGAAG	0.338000								Mismatch excision repair (MMR)					6	13					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12647601	12647601	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:12647601G>A	ENST00000425538.1	+	8	1019	c.819G>A	c.(817-819)caG>caA	p.Q273Q	MYOCD_ENST00000343344.4_Silent_p.Q273Q|MYOCD_ENST00000395988.1_Silent_p.Q177Q	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	273					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCCAGACCAGAAGGCAGAGA	0.547000													4	81					0	0	1	0	0
RAB3GAP2	25782	broad.mit.edu	37	1	220366657	220366657	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:220366657C>A	ENST00000358951.2	-	13	1311	c.1195G>T	c.(1195-1197)Gca>Tca	p.A399S		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	399					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTTACTGCTGCCAGTGTGTTA	0.368000													12	45					1.08611e-07	1.33921e-07	1	1	0
RSAD1	55316	broad.mit.edu	37	17	48560018	48560018	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:48560018C>T	ENST00000258955.2	+	5	940	c.855C>T	c.(853-855)acC>acT	p.T285T		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	285					porphyrin biosynthetic process	mitochondrion	4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGCTCAGTACCCACAATTGGA	0.567000											OREG0024567	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	73					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826370	21826370	+	RNA	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:21826370C>T	ENST00000426869.3	+	0	553					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		CCTGCCTGGGCTCTGGCCCCT	0.552000													3	11					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115226819	115226819	+	Splice_Site	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:115226819C>A	ENST00000369538.3	-	4	682		c.e4+1		AMPD1_ENST00000353928.6_Splice_Site|AMPD1_ENST00000520113.2_Splice_Site	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1						purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGAATTGTTACCTGGATAGAA	0.328000													14	65					7.93312e-07	9.55632e-07	1	1	0
PKHD1	5314	broad.mit.edu	37	6	51936938	51936938	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:51936938G>A	ENST00000371117.3	-	8	852	c.577C>T	c.(577-579)Ctt>Ttt	p.L193F	PKHD1_ENST00000340994.4_Missense_Mutation_p.L193F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	193	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTATTTATAAGAGAGCAAGGA	0.393000													8	57					0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13279935	13279935	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:13279935C>A	ENST00000262487.3	+	6	1230	c.1224C>A	c.(1222-1224)acC>acA	p.T408T	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor	408	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						TCATCAGCACCGAGTTCTCCG	0.632000													3	15					0.004672	0.00485795	1	1	0
GPR101	83550	broad.mit.edu	37	X	136113641	136113641	+	Missense_Mutation	SNP	C	C	G	rs148259008		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:136113641C>G	ENST00000298110.1	-	1	192	c.193G>C	c.(193-195)Gtg>Ctg	p.V65L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	65						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGGTTGGTCACCTGCAGCAGC	0.597000													19	37					0	0	1	0	0
IGHG1	3500	broad.mit.edu	37	14	106209332	106209332	+	RNA	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:106209332C>T	ENST00000390548.2	-	0	76																											GACCAGGCAGCCCAGGGCTGC	0.657000													8	26					0	0	1	0	0
PAK1	5058	broad.mit.edu	37	11	77064624	77064624	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:77064624C>A	ENST00000356341.3	-	8	1324	c.793G>T	c.(793-795)Gat>Tat	p.D265Y	PAK1_ENST00000278568.4_Missense_Mutation_p.D265Y|PAK1_ENST00000525542.1_Intron|PAK1_ENST00000530617.1_Missense_Mutation_p.D265Y|PAK1_ENST00000528203.1_Missense_Mutation_p.D167Y	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	265	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					TTCTTAGGATCGCCCACACTC	0.418000													6	98					0.00307968	0.00323444	1	1	0
PAX2	5076	broad.mit.edu	37	10	102584473	102584473	+	Missense_Mutation	SNP	T	T	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:102584473T>G	ENST00000370296.2	+	9	1607	c.1057T>G	c.(1057-1059)Tac>Gac	p.Y353D	PAX2_ENST00000355243.3_Missense_Mutation_p.Y330D|PAX2_ENST00000556085.1_Missense_Mutation_p.Y329D|PAX2_ENST00000361791.3_Missense_Mutation_p.Y330D|PAX2_ENST00000428433.1_Missense_Mutation_p.Y353D			Q02962	PAX2_HUMAN	paired box 2	353					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGAAGCTACCCCACCTC	0.597000													16	122					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444046	20444046	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:20444046C>A	ENST00000305051.5	+	1	444	c.369C>A	c.(367-369)gcC>gcA	p.A123A		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGCCTGGCCCAGATTTTCT	0.433000													19	168					1.78486e-19	2.66455e-19	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039114	11039114	+	RNA	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:11039114A>G	ENST00000470054.1	-	0	1089									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCTTTCTATAACCAACTGTTC	0.413000													7	390					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4645685	4645685	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:4645685G>C	ENST00000433935.1	+	5	1100	c.1043G>C	c.(1042-1044)cGg>cCg	p.R348P	ZMYND15_ENST00000269289.6_Missense_Mutation_p.R348P|ZMYND15_ENST00000592813.1_Missense_Mutation_p.R348P|ZMYND15_ENST00000573751.2_Missense_Mutation_p.R348P	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	348							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GACTGGCAGCGGTGCCCAGAT	0.587000													20	125					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404627	20404627	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:20404627G>C	ENST00000285600.4	+	1	861	c.802G>C	c.(802-804)Gac>Cac	p.D268H		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ACTTCCTGTGGACAAATTTCT	0.413000													4	114					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978605	10978605	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:10978605C>A	ENST00000240619.2	-	1	352	c.264G>T	c.(262-264)tgG>tgT	p.W88C		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	88					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TACCAATTACCCAAAAGTAAC	0.323000													8	52					3.09899e-07	3.77661e-07	1	1	0
NRIP1	8204	broad.mit.edu	37	21	16340323	16340323	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:16340323T>A	ENST00000400202.1	-	3	903	c.191A>T	c.(190-192)aAt>aTt	p.N64I	NRIP1_ENST00000318948.4_Missense_Mutation_p.N64I|NRIP1_ENST00000400199.1_Missense_Mutation_p.N64I			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	64					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AACTGGACCATTACTTTGACA	0.468000													5	34					0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799730	159799730	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:159799730C>G	ENST00000289707.5	+	2	264	c.115C>G	c.(115-117)Cgt>Ggt	p.R39G	SLAMF8_ENST00000368104.4_Intron	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	39						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GGTGGCAGCGCGTCCCCCTGG	0.592000													43	261					0	0	1	0	0
SFSWAP	6433	broad.mit.edu	37	12	132262716	132262716	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:132262716G>C	ENST00000261674.4	+	14	2390	c.2249G>C	c.(2248-2250)aGa>aCa	p.R750T	SFSWAP_ENST00000541286.1_Missense_Mutation_p.R750T	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	750					mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						GATCCACCGAGAGAAGAAGAG	0.463000													3	22					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2229539	2229539	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:2229539C>A	ENST00000399655.1	+	3	685	c.420C>A	c.(418-420)gcC>gcA	p.A140A	CACNA1C_ENST00000399591.1_Silent_p.A140A|CACNA1C_ENST00000399606.1_Silent_p.A140A|CACNA1C_ENST00000399638.1_Silent_p.A140A|CACNA1C_ENST00000399637.1_Silent_p.A140A|CACNA1C_ENST00000399641.1_Silent_p.A140A|CACNA1C_ENST00000327702.7_Silent_p.A140A|CACNA1C_ENST00000399644.1_Silent_p.A140A|CACNA1C_ENST00000399603.1_Silent_p.A140A|CACNA1C_ENST00000406454.3_Silent_p.A140A|CACNA1C_ENST00000399649.1_Silent_p.A140A|CACNA1C_ENST00000344100.3_Silent_p.A140A|CACNA1C_ENST00000402845.3_Silent_p.A140A|CACNA1C_ENST00000399601.1_Silent_p.A140A|CACNA1C_ENST00000347598.4_Silent_p.A140A|CACNA1C_ENST00000399597.1_Silent_p.A140A|CACNA1C_ENST00000399617.1_Silent_p.A140A|CACNA1C_ENST00000399634.1_Silent_p.A140A|CACNA1C_ENST00000399621.1_Silent_p.A140A|CACNA1C_ENST00000480911.1_Silent_p.A140A|CACNA1C_ENST00000399629.1_Silent_p.A140A|CACNA1C_ENST00000399595.1_Silent_p.A140A|CACNA1C_ENST00000335762.5_Silent_p.A140A	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	140					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGTGTGGCCTTAGCGATCT	0.403000													30	106					5.91797e-21	8.99531e-21	1	1	0
CTR9	9646	broad.mit.edu	37	11	10789389	10789389	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:10789389C>A	ENST00000361367.2	+	14	2149	c.1723C>A	c.(1723-1725)Cat>Aat	p.H575N		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	575					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCAATCTTCATTTGGCAAA	0.408000													23	362					1.64293e-13	2.32009e-13	1	1	0
INSM1	3642	broad.mit.edu	37	20	20350198	20350198	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:20350198C>A	ENST00000310227.1	+	1	1434	c.1287C>A	c.(1285-1287)gcC>gcA	p.A429A		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	429					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		GCGAGGGGGCCGGCGTGCTGG	0.761000													9	15					5.4927e-09	6.99985e-09	1	1	0
CHST14	113189	broad.mit.edu	37	15	40763898	40763898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:40763898G>A	ENST00000306243.5	+	1	739	c.486G>A	c.(484-486)tgG>tgA	p.W162*	CHST14_ENST00000559991.1_Intron	NM_130468.3	NP_569735.1	Q8NCH0	CHSTE_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14	162					carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding			cervix(1)|large_intestine(1)|prostate(2)	4		all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781)		GCTCTAACTGGAAGCGGGTGA	0.652000													33	84					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8006708	8006708	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:8006708G>T	ENST00000344293.5	+	3	1441	c.1235G>T	c.(1234-1236)gGa>gTa	p.G412V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	412					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTTTCTTCTGGATCGGAATCT	0.473000													43	147					5.7616e-29	9.08811e-29	1	1	0
HIST1H3I	8354	broad.mit.edu	37	6	27839994	27839994	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:27839994C>T	ENST00000328488.2	-	1	105	c.100G>A	c.(100-102)Ggt>Agt	p.G34S		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	34					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGACGCCACCGGTGGCCGGA	0.677000													8	118					0	0	1	0	0
DOCK10	55619	broad.mit.edu	37	2	225717789	225717789	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:225717789G>C	ENST00000409592.3	-	17	2034	c.1921C>G	c.(1921-1923)Caa>Gaa	p.Q641E	DOCK10_ENST00000258390.7_Missense_Mutation_p.Q647E			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	647							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GGTTCTGTTTGAGCCATCATG	0.328000													13	88					0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1243750	1243750	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:1243750G>T	ENST00000324642.3	+	9	1335	c.1212G>T	c.(1210-1212)atG>atT	p.M404I	SLC6A18_ENST00000296821.4_Missense_Mutation_p.M333I	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	404					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGTGGGCCATGCTCTTCTTCG	0.652000													24	107					1.96895e-08	2.46413e-08	1	1	0
SPPL2C	162540	broad.mit.edu	37	17	43923160	43923160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:43923160C>A	ENST00000329196.5	+	1	905	c.888C>A	c.(886-888)tgC>tgA	p.C296*	MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	296						integral to membrane	aspartic-type endopeptidase activity										TCTACAGCTGCCTGTCACCCC	0.617000													35	123					6.02846e-25	9.36764e-25	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25469085	25469085	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:25469085C>T	ENST00000264709.3	-	11	1710	c.1373G>A	c.(1372-1374)cGg>cAg	p.R458Q	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R269Q|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R458Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R235Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	458					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCTCTTCCGGGGCTTTTT	0.567000			"""Mis, F, N, S"""		AML								13	177					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214170466	214170466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:214170466G>T	ENST00000366958.4	+	2	1196	c.588G>T	c.(586-588)caG>caT	p.Q196H	PROX1_ENST00000261454.4_Missense_Mutation_p.Q196H|PROX1_ENST00000498508.2_Missense_Mutation_p.Q196H|PROX1_ENST00000435016.1_Missense_Mutation_p.Q196H	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	196					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TGGCCCCGCAGTCTGTGAGTC	0.517000													19	59					1.56452e-12	2.15122e-12	1	1	0
BPI	671	broad.mit.edu	37	20	36932570	36932570	+	Translation_Start_Site	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:36932570C>A	ENST00000262865.4	+	0	46				CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein						defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTTATAGCTCCCTGGTTCAAC	0.567000													11	170					1.05317e-09	1.37142e-09	1	1	0
TRPC5	7224	broad.mit.edu	37	X	111025332	111025332	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:111025332G>T	ENST00000262839.2	-	8	2849	c.1931C>A	c.(1930-1932)aCg>aAg	p.T644K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	644					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CCAGAGCTTCGTCCTTGCAAA	0.443000													15	39					6.72482e-11	9.06767e-11	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46932287	46932287	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr22:46932287C>A	ENST00000262738.3	-	1	780	c.781G>T	c.(781-783)Ggc>Tgc	p.G261C	CELSR1_ENST00000395964.1_Missense_Mutation_p.G261C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	261	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATGAGGGTGCCCGCCGGTTCG	0.682000													14	33					3.27435e-08	4.07345e-08	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92762347	92762347	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:92762347C>T	ENST00000318238.4	-	5	4154	c.2938G>A	c.(2938-2940)Ggg>Agg	p.G980R	SAMD9L_ENST00000411955.1_Missense_Mutation_p.G980R|SAMD9L_ENST00000437805.1_Missense_Mutation_p.G980R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	980										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)			GTGTATCTCCCATATTCTGCA	0.393000													9	61					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62192792	62192792	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:62192792C>A	ENST00000467148.1	-	13	6933	c.6864G>T	c.(6862-6864)cgG>cgT	p.R2288R	HELZ2_ENST00000427522.2_Silent_p.R1719R	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		TGGGGGCCTGCCGGATCCGGT	0.637000													49	267					3.10996e-30	4.92411e-30	1	1	0
USP25	29761	broad.mit.edu	37	21	17203882	17203882	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:17203882G>T	ENST00000285681.2	+	16	2296	c.1927G>T	c.(1927-1929)Ggt>Tgt	p.G643C	USP25_ENST00000400183.2_Missense_Mutation_p.G643C|USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.G643C			Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	643					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		CTCTTTTGGTGGTTATAGAAA	0.353000													13	96					2.5808e-16	3.78517e-16	1	1	0
LAMB4	22798	broad.mit.edu	37	7	107752390	107752390	+	Splice_Site	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:107752390C>A	ENST00000388781.3	-	4	277	c.192_splice	c.e4-1	p.G65_splice	LAMB4_ENST00000388780.3_Splice_Site_p.G65_splice|LAMB4_ENST00000414450.2_Splice_Site_p.G65_splice|LAMB4_ENST00000205386.4_Splice_Site_p.G65_splice	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	65	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTTTTGTTCCCCCTGGAAAAC	0.338000													45	102					1.19451e-25	1.87006e-25	1	1	0
TMEM67	91147	broad.mit.edu	37	8	94767153	94767153	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:94767153G>A	ENST00000453321.3	+	1	69	c.11G>A	c.(10-12)cGc>cAc	p.R4H	TMEM67_ENST00000409623.3_Intron	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	4					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			ATGGCGACGCGCGGTGGGGCT	0.657000													55	125					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53422552	53422552	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:53422552C>A	ENST00000377942.3	-	1	223	c.20G>T	c.(19-21)tGg>tTg	p.W7L	PCDH8_ENST00000338862.4_Missense_Mutation_p.W7L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	7			W -> R (in dbSNP:rs3742301).		cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GGGGCTGCCCCAACGCCTCAC	0.592000													23	83					7.41877e-09	9.36958e-09	1	1	0
NDUFB10	4716	broad.mit.edu	37	16	2011500	2011500	+	Missense_Mutation	SNP	A	A	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:2011500A>T	ENST00000543683.2	+	3	354	c.272A>T	c.(271-273)aAa>aTa	p.K91I	NDUFB10_ENST00000268668.6_Missense_Mutation_p.K91I|NDUFB10_ENST00000569148.1_Missense_Mutation_p.K80I			O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	91					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			lung(1)|urinary_tract(1)	2					NADH(DB00157)	TCCACCAGCAAAGTCGACCAA	0.483000													61	236					0	0	1	0	0
APOL5	80831	broad.mit.edu	37	22	36122925	36122925	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr22:36122925C>T	ENST00000249044.2	+	3	810	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	270					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						ACATCCCTTTCTGGACGGCTA	0.537000													22	242					0	0	1	0	0
LMAN1	3998	broad.mit.edu	37	18	57013249	57013249	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:57013249T>A	ENST00000251047.5	-	8	1574	c.857A>T	c.(856-858)aAa>aTa	p.K286I	LMAN1_ENST00000587940.1_5'UTR	NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	286					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	ATACTTTTCTTTTTCCTTTTC	0.363000													18	74					0	0	1	0	0
DHFRL1	200895	broad.mit.edu	37	3	93779965	93779965	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:93779965G>T	ENST00000394221.2	-	2	840	c.391C>A	c.(391-393)Cat>Aat	p.H131N	DHFRL1_ENST00000314636.2_Missense_Mutation_p.H131N|DHFRL1_ENST00000481631.1_Intron	NM_001195643.1	NP_001182572.1	Q86XF0	DYRL1_HUMAN	dihydrofolate reductase-like 1	131	DHFR.				glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process		dihydrofolate reductase activity|NADP binding			kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8						AGTTTAAGATGGCCTAGGTGA	0.368000													69	118					2.79145e-41	4.50512e-41	1	1	0
FGF20	26281	broad.mit.edu	37	8	16850716	16850716	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:16850716C>A	ENST00000180166.5	-	3	649	c.501G>T	c.(499-501)gtG>gtT	p.V167V		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	167					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTTAAGTGCCACAAAATACC	0.433000													10	98					2.74318e-10	3.65175e-10	1	1	0
TMC2	117532	broad.mit.edu	37	20	2559840	2559840	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:2559840A>C	ENST00000358864.1	+	6	709	c.694A>C	c.(694-696)Atc>Ctc	p.I232L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	232	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACTCAATGTATCCCCTGGGA	0.373000													12	40					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48436029	48436029	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:48436029A>G	ENST00000296438.5	+	11	1486	c.1300A>G	c.(1300-1302)Atc>Gtc	p.I434V	FBXW12_ENST00000415155.1_Missense_Mutation_p.I364V|FBXW12_ENST00000436231.1_Missense_Mutation_p.I277V|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000445170.1_Missense_Mutation_p.I415V	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	434										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGACAGCTGCATCTCCAGTGT	0.363000													20	41					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14359475	14359475	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:14359475C>T	ENST00000344204.4	+	13	2250	c.2226C>T	c.(2224-2226)gcC>gcT	p.A742A	TRIO_ENST00000537187.1_Silent_p.A742A|TRIO_ENST00000509967.2_Silent_p.A693A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	742					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGGACTCTGCCATCTCCAGTA	0.542000													4	95					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44361284	44361284	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:44361284G>T	ENST00000371477.3	+	4	712	c.413G>T	c.(412-414)cGg>cTg	p.R138L		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	138					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAACCAGCGCGGCCTGATCCA	0.403000													11	51					2.27111e-07	2.7758e-07	1	1	0
SNTA1	6640	broad.mit.edu	37	20	31998086	31998086	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:31998086G>A	ENST00000217381.2	-	6	1363	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L		NM_003098.2	NP_003089.1	Q13424	SNTA1_HUMAN	syntrophin, alpha 1	364	PH 2.		L -> F (in dbSNP:rs1046815).		muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						GGGCAAAAGAGAGCTCTGCAT	0.667000													3	27					0	0	1	0	0
CPXM2	119587	broad.mit.edu	37	10	125521449	125521449	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:125521449C>T	ENST00000241305.3	-	11	1870	c.1716G>A	c.(1714-1716)acG>acA	p.T572T	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	572					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGAAGTCCTCCGTGTGGCACA	0.667000													8	32					0	0	1	0	0
PRDM8	56978	broad.mit.edu	37	4	81123425	81123425	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:81123425A>C	ENST00000339711.4	+	10	2040	c.809A>C	c.(808-810)aAc>aCc	p.N270T	PRDM8_ENST00000415738.2_Missense_Mutation_p.N270T|PRDM8_ENST00000504452.1_Missense_Mutation_p.N270T	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	270	Gly-rich.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GAGCTGGAAAACTCCCGGGGA	0.716000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	47					0	0	1	0	0
MYCBP2	23077	broad.mit.edu	37	13	77831824	77831824	+	Missense_Mutation	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:77831824T>A	ENST00000407578.2	-	14	2424	c.2158A>T	c.(2158-2160)Atg>Ttg	p.M720L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.M682L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M682L|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	682					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTTGGTTCATGGCACCAGTA	0.368000													67	251					0	0	1	0	0
TRIM3	10612	broad.mit.edu	37	11	6478612	6478612	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:6478612C>A	ENST00000525074.1	-	5	1004	c.610G>T	c.(610-612)Gcg>Tcg	p.A204S	TRIM3_ENST00000537602.1_Missense_Mutation_p.A204S|TRIM3_ENST00000345851.3_Missense_Mutation_p.A204S|TRIM3_ENST00000529058.1_5'UTR|TRIM3_ENST00000536344.1_Missense_Mutation_p.A85S|TRIM3_ENST00000359518.3_Missense_Mutation_p.A204S	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	204					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTCGAACGCTGCACTGATC	0.607000													55	85					7.77372e-23	1.18592e-22	1	1	0
TG	7038	broad.mit.edu	37	8	134147001	134147001	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:134147001G>C	ENST00000220616.4	+	48	8310	c.8270G>C	c.(8269-8271)aGc>aCc	p.S2757T	TG_ENST00000542445.1_Missense_Mutation_p.S1127T|TG_ENST00000377869.1_Missense_Mutation_p.S2700T|TG_ENST00000519543.1_Missense_Mutation_p.S890T	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2757					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCTCCTAAGCCTCCAGGAA	0.552000													5	52					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47942882	47942882	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:47942882A>G	ENST00000402813.3	-	9	911	c.769T>C	c.(769-771)Tgt>Cgt	p.C257R	CNGA1_ENST00000544810.1_Missense_Mutation_p.C188R|CNGA1_ENST00000358519.4_Missense_Mutation_p.C188R|CNGA1_ENST00000514170.1_Missense_Mutation_p.C188R|CNGA1_ENST00000420489.2_Missense_Mutation_p.C188R			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	188					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCATCAAAACATGCTCTATAA	0.299000													5	29					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83544792	83544792	+	Silent	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:83544792C>G	ENST00000398309.2	-	12	1742	c.1272G>C	c.(1270-1272)ctG>ctC	p.L424L	DLG2_ENST00000543673.1_Silent_p.L529L|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Silent_p.L178L|DLG2_ENST00000330014.6_Silent_p.L363L|DLG2_ENST00000532653.1_Silent_p.L424L|DLG2_ENST00000524982.1_Silent_p.L424L|DLG2_ENST00000531015.1_Silent_p.L391L|DLG2_ENST00000418306.2_Silent_p.L321L|DLG2_ENST00000376104.2_Silent_p.L529L|DLG2_ENST00000398301.2_Silent_p.L463L|DLG2_ENST00000280241.8_Silent_p.L463L	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	424	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGCCTTTGTGCAGGACTACCT	0.468000													18	61					0	0	1	0	0
ATF4P4	100127952	broad.mit.edu	37	11	113661362	113661362	+	RNA	SNP	T	T	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:113661362T>A	ENST00000393544.2	+	0	1410																											CTGGAAACCATGCCAGATGAA	0.478000													50	151					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476435	42476435	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:42476435C>A	ENST00000434000.1	-	9	3058	c.2776G>T	c.(2776-2778)Ggc>Tgc	p.G926C	GPATCH8_ENST00000591680.1_Missense_Mutation_p.G1004C			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1004	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCTGGAGCCTGATCTCTGG	0.627000													16	51					6.31663e-08	7.81169e-08	1	1	0
HERC2P4	100289574	broad.mit.edu	37	16	32163489	32163489	+	RNA	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:32163489C>A	ENST00000564145.1	-	0	65																											CAGAGAACTGCACGGTGATTT	0.522000													10	39					9.31168e-06	1.08119e-05	1	1	0
SLC18A2	6571	broad.mit.edu	37	10	119017346	119017346	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:119017346G>T	ENST00000298472.5	+	10	1077	c.934G>T	c.(934-936)Gag>Tag	p.E312*	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	312					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CGCCATGCTGGAGCCAGCCCT	0.547000													12	45					0.00244969	0.00261217	1	1	0
TNN	63923	broad.mit.edu	37	1	175046741	175046741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:175046741C>A	ENST00000239462.4	+	2	300	c.187C>A	c.(187-189)Cag>Aag	p.Q63K		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	63					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGCTGACCCTCAGCCCCTCAG	0.597000													10	41					7.48243e-07	9.03947e-07	1	1	0
CCNYL2	414194	broad.mit.edu	37	10	42965565	42965565	+	RNA	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:42965565C>T	ENST00000483242.3	-	0	587					NR_103829.1				cyclin Y-like 2											breast(2)|endometrium(1)|lung(3)|ovary(1)	7						CTCAATTTCACTTGCTGCTTG	0.428000													3	28					0	0	1	0	0
IFNA5	3442	broad.mit.edu	37	9	21304743	21304743	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:21304743G>T	ENST00000259555.4	-	1	569	c.513C>A	c.(511-513)atC>atA	p.I171I		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGGATCTCATGATTTCTGCTC	0.398000													108	189					3.90656e-58	6.42891e-58	1	1	0
FOXA3	3171	broad.mit.edu	37	19	46375492	46375492	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:46375492A>G	ENST00000302177.2	+	2	426	c.229A>G	c.(229-231)Act>Gct	p.T77A		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	77					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		CCTGGGGCCCACTTTCCCAGG	0.706000													18	34					0	0	1	0	0
PRKCA	5578	broad.mit.edu	37	17	64785071	64785071	+	Missense_Mutation	SNP	A	A	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:64785071A>C	ENST00000413366.3	+	16	1854	c.1828A>C	c.(1828-1830)Atc>Ctc	p.I610L		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	610	AGC-kinase C-terminal.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GAACAGGGAGATCCAGCCACC	0.567000													13	59					0	0	1	0	0
ACVR1B	91	broad.mit.edu	37	12	52377798	52377798	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:52377798C>G	ENST00000257963.4	+	5	904	c.827C>G	c.(826-828)aCa>aGa	p.T276R	ACVR1B_ENST00000415850.2_Missense_Mutation_p.T276R|ACVR1B_ENST00000542485.1_Missense_Mutation_p.T224R|ACVR1B_ENST00000541224.1_Missense_Mutation_p.T317R|ACVR1B_ENST00000426655.2_Missense_Mutation_p.T276R	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	276	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GGCACCTGGACACAGCTGTGG	0.458000													19	23					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3318262	3318262	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:3318262C>T	ENST00000336727.3	+	2	1269	c.365C>T	c.(364-366)cCc>cTc	p.P122L	RGS12_ENST00000344733.5_Missense_Mutation_p.P122L|RGS12_ENST00000543385.1_Missense_Mutation_p.P122L|RGS12_ENST00000382788.3_Missense_Mutation_p.P122L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	122						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCTGAAGCCCAAGCTGGAT	0.488000													11	108					0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152382456	152382456	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:152382456G>C	ENST00000271835.3	-	3	1164	c.1102C>G	c.(1102-1104)Cac>Gac	p.H368D	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	368	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCCTCCGTGGCTTACAGTT	0.592000													68	181					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51960929	51960929	+	Silent	SNP	C	C	A	rs142413892	byFrequency	TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:51960929C>A	ENST00000321424.3	-	2	585	c.519G>T	c.(517-519)ctG>ctT	p.L173L	SIGLEC8_ENST00000430817.1_Intron|SIGLEC8_ENST00000340550.5_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	173	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGAGCAGGTCAGGTTCCTGG	0.632000													32	93					2.42023e-17	3.57476e-17	1	1	0
NKD1	85407	broad.mit.edu	37	16	50664741	50664741	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:50664741G>T	ENST00000268459.3	+	8	839	c.615G>T	c.(613-615)ctG>ctT	p.L205L		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	205					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		ACTCAGACCTGCAGAGCGCAA	0.662000													6	9					0.00198382	0.00212081	1	1	0
ZAP70	7535	broad.mit.edu	37	2	98351804	98351804	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:98351804C>A	ENST00000264972.5	+	10	1389	c.1174C>A	c.(1174-1176)Cag>Aag	p.Q392K	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.Q266K|ZAP70_ENST00000451498.2_Missense_Mutation_p.Q85K	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	392	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GATCATGCACCAGCTGGACAA	0.632000													41	179					9.88483e-10	1.29933e-09	1	1	0
COL5A1	1289	broad.mit.edu	37	9	137708926	137708926	+	Splice_Site	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:137708926G>T	ENST00000371817.3	+	53	4590		c.e53+1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGAAAAAGGGTAAATAATCC	0.577000													11	25					9.31168e-06	1.08119e-05	1	1	0
ATP8A2	51761	broad.mit.edu	37	13	26112159	26112159	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:26112159G>T	ENST00000381655.2	+	7	683	c.541G>T	c.(541-543)Ggg>Tgg	p.G181W	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G141W	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	141					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGTCGTCAATGGGCAGTATCT	0.438000													11	67					7.03913e-09	8.94333e-09	1	1	0
ATG2B	55102	broad.mit.edu	37	14	96795024	96795024	+	Missense_Mutation	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:96795024T>C	ENST00000359933.4	-	13	2854	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	654										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGGCCCTCTATTCTCAGAATG	0.333000													6	46					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104251172	104251172	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:104251172G>T	ENST00000202556.9	-	3	519	c.237C>A	c.(235-237)ttC>ttA	p.F79L		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	79					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CGTGTCGAAGGAAAAATTTCA	0.393000													7	49					0.00198382	0.00212081	1	1	0
LRFN2	57497	broad.mit.edu	37	6	40399872	40399872	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:40399872G>A	ENST00000338305.6	-	2	1523	c.981C>T	c.(979-981)gaC>gaT	p.D327D		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	327	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTACCAGGCGGTCATCGGGGG	0.582000													32	75					0	0	1	0	0
TROVE2	6738	broad.mit.edu	37	1	193038728	193038728	+	Silent	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:193038728C>T	ENST00000367446.3	+	2	754	c.544C>T	c.(544-546)Cta>Tta	p.L182L	TROVE2_ENST00000367445.3_Silent_p.L182L|TROVE2_ENST00000416058.2_5'UTR|TROVE2_ENST00000400968.2_Silent_p.L182L|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Silent_p.L182L|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367443.1_Silent_p.L182L|TROVE2_ENST00000367441.1_Silent_p.L182L	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2	182	TROVE.				transcription from RNA polymerase III promoter	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|RNA binding			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						TCACAAAGATCTATTAAGATT	0.408000													5	114					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561251	9561251	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:9561251G>A	ENST00000378429.3	-	5	1077	c.531C>T	c.(529-531)caC>caT	p.H177H	PAK7_ENST00000353224.5_Silent_p.H177H|PAK7_ENST00000378423.1_Silent_p.H177H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	177	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity	p.H177H(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			AGGCCTCCCCGTGCTTCATTT	0.458000													24	176					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103573072	103573072	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr8:103573072C>G	ENST00000285402.3	+	2	869	c.713C>G	c.(712-714)cCc>cGc	p.P238R	ODF1_ENST00000518835.1_Missense_Mutation_p.P31R	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	238	C-X-P repeat region.				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			CCGTGTTATCCCTGTGGAAGC	0.547000													38	130					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10442727	10442727	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:10442727C>T	ENST00000397077.1	-	7	1266	c.691G>A	c.(691-693)Ggc>Agc	p.G231S	ATP2B2_ENST00000352432.4_Missense_Mutation_p.G231S|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G231S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G231S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G231S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	231					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGTCATTGCCCTGGATGAAG	0.582000													11	38					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100148056	100148056	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:100148056G>T	ENST00000300176.4	+	3	475	c.353G>T	c.(352-354)cGg>cTg	p.R118L	AGFG2_ENST00000262935.4_Missense_Mutation_p.R118L|AGFG2_ENST00000474713.1_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	118	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTGATGCTCGGACATCTTTA	0.428000													15	142					2.23348e-06	2.66742e-06	1	1	0
UNC13D	201294	broad.mit.edu	37	17	73824957	73824957	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:73824957G>A	ENST00000207549.4	-	31	3441	c.3062C>T	c.(3061-3063)cCg>cTg	p.P1021L	UNC13D_ENST00000412096.2_Missense_Mutation_p.P1021L	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	1021					positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACGCAGCGGCAGGAAGGC	0.701000									Familial Hemophagocytic Lymphohistiocytosis				5	30					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57537197	57537197	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:57537197G>T	ENST00000371236.2	-	6	819	c.556C>A	c.(556-558)Cag>Aag	p.Q186K	DAB1_ENST00000439789.2_Intron|DAB1_ENST00000414851.2_Missense_Mutation_p.Q186K|DAB1_ENST00000371231.1_Missense_Mutation_p.Q186K|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371230.1_Missense_Mutation_p.Q186K|DAB1_ENST00000420954.2_Missense_Mutation_p.Q186K|DAB1_ENST00000371234.4_Missense_Mutation_p.Q186K			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	186	PID.				cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGGTATACCTGGTACACAGCT	0.408000													4	65					0.014758	0.0150827	1	1	0
SKIL	6498	broad.mit.edu	37	3	170078153	170078153	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:170078153C>G	ENST00000458537.3	+	1	743	c.34C>G	c.(34-36)Cag>Gag	p.Q12E	SKIL_ENST00000413427.2_Missense_Mutation_p.Q12E|SKIL_ENST00000426052.2_Intron|SKIL_ENST00000259119.4_Missense_Mutation_p.Q12E	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	12					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCCTTGGTTCAGGGCTCAAC	0.373000													6	104					0	0	1	0	0
SLC22A6	9356	broad.mit.edu	37	11	62744655	62744655	+	Splice_Site	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:62744655C>T	ENST00000360421.4	-	9	1858		c.e9+1		SLC22A6_ENST00000377871.3_Silent_p.R522R|SLC22A6_ENST00000421062.2_Silent_p.R478R|SLC22A6_ENST00000458333.2_Splice_Site	NM_153276.2|NM_153277.2	NP_695008.1|NP_695009.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6						alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGGGGGCCCACCTGCTCTCCA	0.602000													27	151					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038769	75038769	+	Silent	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:75038769A>G	ENST00000326665.5	-	14	2843	c.2625T>C	c.(2623-2625)gcT>gcC	p.A875A	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	875	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTTTTCAGGAGCCTCATCTT	0.522000													37	295					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118464767	118464767	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:118464767G>A	ENST00000369209.3	-	3	253	c.149C>T	c.(148-150)tCa>tTa	p.S50L		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	50							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CTGCTGTTCTGAGACGTTGGA	0.577000													28	170					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72170352	72170352	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:72170352C>A	ENST00000537465.1	-	9	1356	c.1198G>T	c.(1198-1200)Gac>Tac	p.D400Y	PMFBP1_ENST00000355636.6_Missense_Mutation_p.D255Y|PMFBP1_ENST00000237353.10_Missense_Mutation_p.D400Y			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	400										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTACCTTGTCTTTCTTCAAA	0.532000													27	88					1.55811e-20	2.34277e-20	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50053963	50053963	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463000													4	66					0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771564	143771564	+	Silent	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:143771564C>G	ENST00000408898.2	+	1	290	c.252C>G	c.(250-252)ctC>ctG	p.L84L		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGGTGAACCTCCTGCATCCAG	0.547000													7	101					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89924614	89924614	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:89924614A>G	ENST00000405460.2	+	8	1570	c.1474A>G	c.(1474-1476)Ata>Gta	p.I492V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	492					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCCTCATACAATACGAGGAGG	0.428000													4	37					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915865	26915865	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:26915865G>T	ENST00000231021.4	-	3	568	c.396C>A	c.(394-396)gaC>gaA	p.D132E		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	132	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CAGTTTTTCTGTCTATAGCCT	0.363000													50	205					2.31418e-15	3.33561e-15	1	1	0
GALNT13	114805	broad.mit.edu	37	2	155098678	155098678	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:155098678G>A	ENST00000392825.3	+	5	1014	c.447G>A	c.(445-447)gaG>gaA	p.E149E	GALNT13_ENST00000409237.1_Silent_p.E149E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	149	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TACTCTCAGAGGTCATCTTGG	0.343000													19	64					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183675964	183675964	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:183675964G>A	ENST00000511685.1	+	22	4567	c.4444G>A	c.(4444-4446)Gat>Aat	p.D1482N	TENM3_ENST00000406950.2_Missense_Mutation_p.D1482N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGCTTCTCCAGATGGTACACT	0.473000													32	53					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184093708	184093708	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:184093708G>T	ENST00000204615.7	-	3	323	c.109C>A	c.(109-111)Ctt>Att	p.L37I	EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000421442.2_Missense_Mutation_p.L37I|THPO_ENST00000445696.2_Missense_Mutation_p.L37I	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	37					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGTCACGAAGCAGTTTACTG	0.527000													50	58					1.07234e-20	1.61819e-20	1	1	0
ACIN1	22985	broad.mit.edu	37	14	23548913	23548913	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:23548913C>A	ENST00000262710.1	-	6	2132	c.1805G>T	c.(1804-1806)cGg>cTg	p.R602L	ACIN1_ENST00000605057.1_Missense_Mutation_p.R544L|ACIN1_ENST00000555053.1_Missense_Mutation_p.R602L|ACIN1_ENST00000457657.1_Missense_Mutation_p.R562L	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	602	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGAATGAGACCGAGAACCTGA	0.517000													25	138					1.55469e-16	2.28825e-16	1	1	0
CYLC2	1539	broad.mit.edu	37	9	105767446	105767446	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:105767446C>A	ENST00000374798.3	+	5	603	c.533C>A	c.(532-534)tCt>tAt	p.S178Y	CYLC2_ENST00000487798.1_Missense_Mutation_p.S178Y	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	178	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				gcaacagaatctgaagatgaa	0.358000													4	30					0.0293803	0.0295927	1	1	0
SERPINB2	5055	broad.mit.edu	37	18	61565002	61565002	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:61565002C>A	ENST00000457692.1	+	6	792	c.459C>A	c.(457-459)ccC>ccA	p.P153P	SERPINB2_ENST00000482254.1_3'UTR|SERPINB2_ENST00000299502.4_Silent_p.P153P	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	153					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CCTCAGAACCCCAGGCAGTAG	0.353000													6	60					0.0215528	0.0218137	1	1	0
PRMT8	56341	broad.mit.edu	37	12	3692328	3692328	+	Silent	SNP	T	T	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:3692328T>C	ENST00000382622.3	+	8	1323	c.933T>C	c.(931-933)ttT>ttC	p.F311F	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Silent_p.F302F	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	311					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TCACCTATTTTAATATTGAAT	0.483000													11	22					0	0	1	0	0
VWA5A	4013	broad.mit.edu	37	11	124007807	124007807	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:124007807G>A	ENST00000456829.2	+	15	1962	c.1711G>A	c.(1711-1713)Gat>Aat	p.D571N	VWA5A_ENST00000360334.4_Intron|VWA5A_ENST00000392748.1_Missense_Mutation_p.D571N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	571										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TGATAAAAAAGATGCATTGAA	0.498000													20	89					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41739590	41739590	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:41739590C>A	ENST00000196371.5	-	16	1583	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	OXCT1_ENST00000512084.1_Missense_Mutation_p.V78L|OXCT1_ENST00000509987.1_Missense_Mutation_p.V289L|OXCT1_ENST00000510634.1_Missense_Mutation_p.V78L	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	475					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	ACATCAAACACAGCCTGTCAG	0.433000													35	120					3.11337e-16	4.55032e-16	1	1	0
BACE2	25825	broad.mit.edu	37	21	42622723	42622723	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:42622723G>A	ENST00000330333.6	+	7	1492	c.1029G>A	c.(1027-1029)gcG>gcA	p.A343A	BACE2_ENST00000328735.6_Silent_p.A343A|BACE2_ENST00000347667.4_Intron|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	343					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCCAGCTGGCGTGCTGGACGA	0.478000													5	76					0	0	1	0	0
CD1D	912	broad.mit.edu	37	1	158151988	158151988	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:158151988G>T	ENST00000368171.3	+	4	994	c.495G>T	c.(493-495)gtG>gtT	p.V165V		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	165					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCATTCAAGTGCTCAACCAGG	0.512000													91	234					1.07466e-44	1.75472e-44	1	1	0
WDR7	23335	broad.mit.edu	37	18	54694328	54694328	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:54694328G>C	ENST00000254442.3	+	28	4574	c.4363G>C	c.(4363-4365)Gcg>Ccg	p.A1455P	WDR7_ENST00000589935.1_Missense_Mutation_p.A32P|WDR7_ENST00000357574.3_Missense_Mutation_p.A1422P	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGTGCAGCCCGCGTCCCCCGG	0.622000													13	58					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68309091	68309091	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:68309091G>A	ENST00000566454.1	+	4	731	c.462G>A	c.(460-462)ccG>ccA	p.P154P	SLC7A6_ENST00000219343.6_Silent_p.P154P	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	154					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		TCATCCAGCCGTCCTTCCCCA	0.587000													19	95					0	0	1	0	0
CCDC113	29070	broad.mit.edu	37	16	58296382	58296382	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:58296382C>G	ENST00000219299.4	+	6	800	c.721C>G	c.(721-723)Caa>Gaa	p.Q241E	CCDC113_ENST00000443128.2_Missense_Mutation_p.Q187E	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	241						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGCAAGGAATCAAGAACTGAC	0.478000													18	95					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240371492	240371492	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:240371492C>A	ENST00000319653.9	+	5	3610	c.3380C>A	c.(3379-3381)gCg>gAg	p.A1127E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1127	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTACCCGGAGCGGGCATACCC	0.721000													6	39					0.00307968	0.00323444	1	1	0
SERINC3	10955	broad.mit.edu	37	20	43142613	43142613	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr20:43142613C>A	ENST00000342374.4	-	2	265	c.108G>T	c.(106-108)acG>acT	p.T36T	SERINC3_ENST00000255175.1_Silent_p.T36T|SERINC3_ENST00000541235.1_5'UTR|SERINC3_ENST00000468234.1_5'UTR	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	36						integral to membrane|plasma membrane	protein binding	p.V37L(1)		endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			GGCGAGTCACCGTGGAATTCT	0.468000													14	78					1.3612e-06	1.63032e-06	1	1	0
ATP10B	23120	broad.mit.edu	37	5	160114996	160114996	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:160114996G>T	ENST00000327245.5	-	5	932	c.86C>A	c.(85-87)cCg>cAg	p.P29Q	CTC-529G1.1_ENST00000524198.1_RNA|ATP10B_ENST00000518411.1_5'UTR	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	29					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGAGCAGCGGTGTGGTTTC	0.557000													20	114					1.56452e-12	2.15122e-12	1	1	0
KCNH5	27133	broad.mit.edu	37	14	63447667	63447667	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr14:63447667G>T	ENST00000322893.7	-	6	1133	c.865C>A	c.(865-867)Ctg>Atg	p.L289M	KCNH5_ENST00000420622.2_Missense_Mutation_p.L289M|KCNH5_ENST00000394968.1_Missense_Mutation_p.L231M|KCNH5_ENST00000394964.2_Missense_Mutation_p.L231M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	289					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CAAGTTTTCAGATAGTTCATC	0.398000													6	74					8.12818e-05	9.08444e-05	1	1	0
MGAM	8972	broad.mit.edu	37	7	141756637	141756637	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:141756637G>A	ENST00000475668.2	+	30	3642	c.3588G>A	c.(3586-3588)acG>acA	p.T1196T	MGAM_ENST00000549489.2_Silent_p.T1196T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1196	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATGTGACGTTCCAGCCCC	0.522000													5	49					0	0	1	0	0
SLC43A2	124935	broad.mit.edu	37	17	1520013	1520013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:1520013C>A	ENST00000571650.1	-	3	517	c.211G>T	c.(211-213)Gag>Tag	p.E71*	SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.E71*|SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.E71*			Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	71					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		CAGCTCACCTCCTCGTGCCCC	0.587000													8	86					5.18039e-06	6.09973e-06	1	1	0
MTTP	4547	broad.mit.edu	37	4	100518330	100518330	+	Missense_Mutation	SNP	C	C	T	rs137956833		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:100518330C>T	ENST00000457717.1	+	9	1272	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.A366V|MTTP_ENST00000265517.5_Missense_Mutation_p.A339V	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	339	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CTCAGGACTGCGAAGAAAGAA	0.473000													4	116					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219544794	219544794	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:219544794C>T	ENST00000295709.3	+	9	1406	c.1127C>T	c.(1126-1128)tCt>tTt	p.S376F	STK36_ENST00000392105.3_Missense_Mutation_p.S376F|STK36_ENST00000440309.1_Missense_Mutation_p.S376F|STK36_ENST00000392106.2_Missense_Mutation_p.S376F	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	376					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAGGTGCCCTCTGCACCTCGG	0.517000													29	92					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70723050	70723050	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:70723050G>A	ENST00000354185.4	+	4	709	c.611G>A	c.(610-612)cGa>cAa	p.R204Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	204						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTCATAGGCCGAGGAGTGACC	0.423000													15	67					0	0	1	0	0
ROR2	4920	broad.mit.edu	37	9	94495632	94495632	+	Missense_Mutation	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:94495632G>A	ENST00000375708.3	-	6	907	c.709C>T	c.(709-711)Cct>Tct	p.P237S	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.P97S	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	237	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCGCACAGAGGAAACACGAAG	0.652000													7	34					0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821590	151821590	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:151821590G>T	ENST00000370306.2	+	9	1765	c.1745G>T	c.(1744-1746)tGc>tTc	p.C582F		NM_018558.2	NP_061028.2	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	582						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGATAGTTGCCCCCCAAGC	0.517000													14	34					9.31168e-06	1.08119e-05	1	1	0
CPEB3	22849	broad.mit.edu	37	10	93902846	93902846	+	Missense_Mutation	SNP	C	C	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:93902846C>G	ENST00000412050.4	-	6	1439	c.1351G>C	c.(1351-1353)Gga>Cga	p.G451R	CPEB3_ENST00000265997.4_Missense_Mutation_p.G465R	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	465	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACGAGAGGTCCAAACCTGCGA	0.398000													11	70					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25336846	25336846	+	RNA	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:25336846G>T	ENST00000546682.1	+	0	949				SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GATCTCTGTTGGGTGCTGGTG	0.512000													7	22					8.12818e-05	9.08444e-05	1	1	0
RYR1	6261	broad.mit.edu	37	19	38987581	38987581	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:38987581A>G	ENST00000355481.4	+	42	7009	c.6878A>G	c.(6877-6879)cAg>cGg	p.Q2293R	RYR1_ENST00000360985.3_Missense_Mutation_p.Q2293R|RYR1_ENST00000359596.3_Missense_Mutation_p.Q2293R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2293	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCAGGAGCAGGACCTGGAA	0.642000													17	27					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22737799	22737799	+	RNA	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr4:22737799C>A	ENST00000503442.1	+	0	345				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	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						CGTCTGTTACCTGATGGGACG	0.428000													44	119					3.77016e-25	5.88032e-25	1	1	0
MFSD9	84804	broad.mit.edu	37	2	103335611	103335611	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:103335611G>T	ENST00000258436.5	-	6	736	c.693C>A	c.(691-693)ggC>ggA	p.G231G		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	231					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GCAATGGCAGGCCCTTCTCTG	0.552000													24	162					4.26978e-12	5.81357e-12	1	1	0
GRIN2A	2903	broad.mit.edu	37	16	10274038	10274038	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:10274038G>A	ENST00000396573.2	-	3	540	c.231C>T	c.(229-231)acC>acT	p.T77T	GRIN2A_ENST00000330684.3_Silent_p.T77T|GRIN2A_ENST00000396575.2_Silent_p.T77T|GRIN2A_ENST00000562109.1_Silent_p.T77T|GRIN2A_ENST00000404927.2_Silent_p.T77T	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	77					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTGGGGTCGGTGCGGTTCA	0.667000													20	192					0	0	1	0	0
BIRC6	57448	broad.mit.edu	37	2	32710768	32710768	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:32710768G>T	ENST00000421745.2	+	40	7889	c.7755G>T	c.(7753-7755)atG>atT	p.M2585I		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2585					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TGTTGAAAATGATGTCTACTC	0.358000													6	71					5.4927e-09	6.99985e-09	1	1	0
CNTNAP3B	728577	broad.mit.edu	37	9	43885056	43885056	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr9:43885056G>A	ENST00000377564.3	+	15	2742	c.2349G>A	c.(2347-2349)ctG>ctA	p.L783L		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	783	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGGGCCACTGCTCTGCCGCG	0.438000													4	10					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137770	40137770	+	Missense_Mutation	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:40137770G>T	ENST00000278198.2	-	2	2036	c.73C>A	c.(73-75)Ccc>Acc	p.P25T	LRRC4C_ENST00000528697.1_Missense_Mutation_p.P25T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P25T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P25T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	25					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACAAGCAGGGGGTCAAATAGG	0.502000													8	23					0.00307968	0.00323444	1	1	0
AZGP1P1	646282	broad.mit.edu	37	7	99578417	99578417	+	RNA	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:99578417C>A	ENST00000425474.1	+	0	33					NR_036679.1																						GGTGTCTGTCCTGCTGTCTCT	0.582000													65	155					1.64573e-32	2.61565e-32	1	1	0
GRIK2	2898	broad.mit.edu	37	6	102307314	102307314	+	Silent	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:102307314C>A	ENST00000369138.1	+	10	1960	c.1470C>A	c.(1468-1470)gcC>gcA	p.A490A	GRIK2_ENST00000369137.3_Silent_p.A490A|GRIK2_ENST00000318991.6_Silent_p.A490A|GRIK2_ENST00000413795.1_Silent_p.A490A|GRIK2_ENST00000421544.1_Silent_p.A490A|GRIK2_ENST00000369134.4_Silent_p.A441A	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	490					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AATATGGAGCCCAGGATGATG	0.383000													26	39					1.13719e-10	1.52844e-10	1	1	0
RYR2	6262	broad.mit.edu	37	1	237617764	237617764	+	Missense_Mutation	SNP	C	C	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:237617764C>A	ENST00000366574.2	+	15	1683	c.1366C>A	c.(1366-1368)Ctg>Atg	p.L456M	RYR2_ENST00000542537.1_Missense_Mutation_p.L440M|RYR2_ENST00000360064.6_Missense_Mutation_p.L454M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	456					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L454M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGCCTAAGTCTGCAGGATCT	0.453000													8	45					6.40141e-05	7.21237e-05	1	1	0
ZNF417	147687	broad.mit.edu	37	19	58420461	58420461	+	Silent	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr19:58420461G>T	ENST00000312026.5	-	3	1349	c.1185C>A	c.(1183-1185)ctC>ctA	p.L395L	ZNF417_ENST00000595559.1_Silent_p.L394L|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Silent_p.L196L	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		GATGTTGAACGAGGTTGCCCT	0.458000													52	120					6.31075e-24	9.69814e-24	1	1	0
HOXB3	3213	broad.mit.edu	37	17	46629658	46629658	+	Translation_Start_Site	SNP	G	G	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:46629658G>T	ENST00000472863.1	-	0	269				HOXB3_ENST00000498678.1_Missense_Mutation_p.A60D|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000311626.4_Missense_Mutation_p.A60D|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000470495.1_Missense_Mutation_p.A60D|HOXB3_ENST00000476342.1_Missense_Mutation_p.A60D|HOXB3_ENST00000489475.1_De_novo_Start_OutOfFrame|HOXB3_ENST00000490677.1_Intron			P14651	HXB3_HUMAN	homeobox B3						angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATGTGGGGCAGCGTTGCCCAG	0.697000													13	82					3.27435e-08	4.07345e-08	1	1	0
WDR72	256764	broad.mit.edu	37	15	54007541	54007541	+	Missense_Mutation	SNP	C	C	A	rs140373011	by1000genomes	TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:54007541C>A	ENST00000396328.1	-	5	602	c.363G>T	c.(361-363)atG>atT	p.M121I	WDR72_ENST00000559418.1_Missense_Mutation_p.M121I|WDR72_ENST00000360509.5_Missense_Mutation_p.M121I|WDR72_ENST00000557913.1_Missense_Mutation_p.M121I	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	121										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CTTCTCCTGTCATCCGGAATG	0.358000													12	61					1.05317e-09	1.37142e-09	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47915711	47915711	+	Missense_Mutation	SNP	G	G	C			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:47915711G>C	ENST00000289672.2	-	23	3818	c.3768C>G	c.(3766-3768)caC>caG	p.H1256Q		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1256	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AATTGTCCAAGTGCTCACCAG	0.413000													8	32					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110654145	110654145	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chrX:110654145G>A	ENST00000338081.3	-	1	229	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	DCX_ENST00000356915.2_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	20					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCATCTCCAGCTTAGGAAGC	0.433000													33	70					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35641827	35641827	+	Missense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:35641827C>T	ENST00000353139.5	-	4	864	c.383G>A	c.(382-384)aGa>aAa	p.R128K	ACACA_ENST00000335166.5_Missense_Mutation_p.R13K|ACACA_ENST00000394406.2_Missense_Mutation_p.R91K|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.R33K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	91	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TATTTTCTTTCTGTCTCGGCC	0.413000													34	135					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512188	248512188	+	Missense_Mutation	SNP	A	A	G			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:248512188A>G	ENST00000317861.1	+	1	112	c.112A>G	c.(112-114)Atg>Gtg	p.M38V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGTAACTCTAATGGGAAACAT	0.438000													42	104					0	0	1	0	0
SLC24A5	283652	broad.mit.edu	37	15	48413260	48413260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr15:48413260C>T	ENST00000482911.2	+	1	60	c.19C>T	c.(19-21)Caa>Taa	p.Q7*	SLC24A5_ENST00000449382.2_Nonsense_Mutation_p.Q7*|SLC24A5_ENST00000341459.3_Nonsense_Mutation_p.Q7*			Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	7					response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		AAAAGGGGGCCAAACATGGGC	0.572000													5	26					0	0	1	0	0
BCAR1	9564	broad.mit.edu	37	16	75263718	75263718	+	Silent	SNP	G	G	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr16:75263718G>A	ENST00000546196.1	-	7	3869	c.2217C>T	c.(2215-2217)gcC>gcT	p.A739A	BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Silent_p.A786A|BCAR1_ENST00000162330.5_Silent_p.A768A|BCAR1_ENST00000542031.2_Silent_p.A766A|BCAR1_ENST00000538440.2_Silent_p.A768A|BCAR1_ENST00000535626.2_Silent_p.A620A|BCAR1_ENST00000393422.2_Silent_p.A786A|BCAR1_ENST00000393420.6_Silent_p.A786A|BCAR1_ENST00000418647.3_Silent_p.A814A			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	768					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGGTGGCCACGGCGGTAAAGA	0.632000													40	83					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297263	117297264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:117297263_117297264insA	ENST00000369478.3	+	2	180_181	c.72_73insA	c.(70-75)tcaagafs	p.R25fs	CD2_ENST00000369477.1_Frame_Shift_Ins_p.R25fs	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	25	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GTGCAGTCTCCAAAGAGATTAC	0.416													14	147	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													7	138	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168104122	168104122	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr2:168104122delC	ENST00000409195.1	+	9	6309	c.6220delC	c.(6220-6222)ttfs	p.L2074fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Del_p.L1852fs|XIRP2_ENST00000295237.9_Frame_Shift_Del_p.L2074fs|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1899					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGAACAGCATCTTAGAGATGA	0.373													9	94	---	---	---	---					
MTHFD2P1	100287639	broad.mit.edu	37	3	95374470	95374471	+	RNA	INS	-	-	A			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr3:95374470_95374471insA	ENST00000494840.1	-	0	1390_1391					NR_077228.1																						GGCAGCTGAACAAGGTGGCCAT	0.381													19	28	---	---	---	---					
ANKRD32	84250	broad.mit.edu	37	5	94022393	94022395	+	In_Frame_Del	DEL	TTC	TTC	-	rs150730131		TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr5:94022393_94022395delTTC	ENST00000265140.5	+	16	2510_2512	c.2091_2093delTTC	c.(2089-2094)gtt>gt	p.VS697del		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	697										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CTGGCAGTGTTTCTTCTGAGCCA	0.369													8	176	---	---	---	---					
RSPH4A	345895	broad.mit.edu	37	6	116938054	116938062	+	In_Frame_Del	DEL	CCCTCTTCC	CCCTCTTCC	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr6:116938054_116938062delCCCTCTTCC	ENST00000229554.5	+	1	405_413	c.268_276delCCCTCTTCC	c.(268-276)del	p.PSS90del	RSPH4A_ENST00000368581.4_In_Frame_Del_p.PSS90del|RSPH4A_ENST00000368580.4_In_Frame_Del_p.PSS90del	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	90					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCCGCGGGAGCCCTCTTCCTCTCCTTCTC	0.632									Kartagener syndrome				12	53	---	---	---	---					
CLCN1	1180	broad.mit.edu	37	7	143048786	143048787	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr7:143048786_143048787insT	ENST00000343257.2	+	23	2782_2783	c.2695_2696insT	c.(2695-2697)accfs	p.T899fs		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	899					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GAGTACCGGGGCACCTCCATCT	0.614													19	119	---	---	---	---					
ANKRD30A	91074	broad.mit.edu	37	10	37451598	37451598	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:37451598delC	ENST00000374660.1	+	16	1853	c.1754delC	c.(1753-1755)gcfs	p.A585fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.A585fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.A585fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	641						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCCATCTGCCTTCGAGGTA	0.328													30	88	---	---	---	---					
NUTM2B	729262	broad.mit.edu	37	10	81465935	81465935	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:81465935delG	ENST00000372321.1	+	2	851	c.319delG	c.(319-321)gcfs	p.G107fs	RP11-119F19.2_ENST00000596088.1_RNA|NUTM2B_ENST00000429828.1_Frame_Shift_Del_p.G174fs|RP11-119F19.2_ENST00000600376.1_RNA|NUTM2B_ENST00000448135.1_Frame_Shift_Del_p.G174fs|RP11-119F19.2_ENST00000601369.1_RNA																							TCCTCCAGGCGGCCCTCTGGT	0.662													18	96	---	---	---	---					
ALDH18A1	5832	broad.mit.edu	37	10	97370050	97370050	+	Splice_Site	DEL	C	C	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr10:97370050delC	ENST00000371224.2	-	17	2248		c.e17-1		ALDH18A1_ENST00000371221.3_Splice_Site	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1						proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	GCTGTGTTTTCTGCAGGGTGA	0.522													9	50	---	---	---	---					
ALDH3B1	221	broad.mit.edu	37	11	67788996	67789009	+	Frame_Shift_Del	DEL	AGCACCTGACACCT	AGCACCTGACACCT	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr11:67788996_67789009delAGCACCTGACACCT	ENST00000539229.1	+	8	718_731	c.602_615delAGCACCTGACACCT	c.(601-615)afs	p.KHLTP201fs	ALDH3B1_ENST00000007633.8_Frame_Shift_Del_p.KHLTP201fs|ALDH3B1_ENST00000316367.6_Splice_Site|ALDH3B1_ENST00000342456.6_Frame_Shift_Del_p.KHLTP165fs|ALDH3B1_ENST00000434449.1_3'UTR	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	202					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase									NADH(DB00157)	GCTGCCGCCAAGCACCTGACACCTGTCACCCTGG	0.631											OREG0021141	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	296	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs113304321	by1000genomes	TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8287-8292)caagca>caCAGagca	p.2763_2763Q>HR	EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR			Q96L91	EP400_HUMAN	E1A binding protein p400	2763	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564													24	78	---	---	---	---					
SUPT20H	55578	broad.mit.edu	37	13	37605931	37605932	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr13:37605931_37605932insT	ENST00000360252.4	-	11	1058_1059	c.811_812insA	c.(811-813)aaafs	p.K271fs	SUPT20H_ENST00000542180.1_Frame_Shift_Ins_p.K258fs|SUPT20H_ENST00000464744.1_Frame_Shift_Ins_p.K271fs|SUPT20H_ENST00000475892.1_Frame_Shift_Ins_p.K270fs|SUPT20H_ENST00000356185.3_Frame_Shift_Ins_p.K271fs|SUPT20H_ENST00000350612.6_Frame_Shift_Ins_p.K270fs	NM_001278481.1|NM_001278482.1|NM_017569.3	NP_001265410.1|NP_001265411.1|NP_060039.1			suppressor of Ty 20 homolog (S. cerevisiae)																		TCTTTCCTTTCTTTTTTGTAAG	0.376													23	108	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7574006	7574007	+	Frame_Shift_Ins	INS	-	-	CTTC			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:7574006_7574007insCTTC	ENST00000269305.4	-	10	1209_1210	c.1020_1021insGAAG	c.(1018-1023)attccgfs	p.IP340fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.IP340fs|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	340	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.M340I(1)|p.I332fs*5(1)|p.?(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGCTCTCGGAACATCTCGAAGC	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			7	36	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	RNA	DEL	T	T	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313													2	4	---	---	---	---					
SETBP1	26040	broad.mit.edu	37	18	42531438	42531438	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr18:42531438delG	ENST00000282030.5	+	4	2429	c.2133delG	c.(2131-2133)aafs	p.K711fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	711						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AACTGGGCAAGCAGATTAATG	0.547									Schinzel-Giedion syndrome				12	52	---	---	---	---					
BACH1	571	broad.mit.edu	37	21	30698571	30698571	+	Frame_Shift_Del	DEL	A	A	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr21:30698571delA	ENST00000399921.1	+	3	669	c.426delA	c.(424-426)agfs	p.R142fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.R142fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	142						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K144fs*22(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AATGCCCAAGAAAAAAATGCT	0.378													13	98	---	---	---	---					
RBFOX2	23543	broad.mit.edu	37	22	36142531	36142539	+	In_Frame_Del	DEL	AGCGGCTGC	AGCGGCTGC	-			TCGA-86-8672-01A-21D-2393-08	TCGA-86-8672-10A-01D-2393-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71c8a95e-9476-4255-945f-ee019dd6e63d	a2e39f7c-1a6f-4bb1-9880-73eba26335a3	g.chr22:36142531_36142539delAGCGGCTGC	ENST00000405409.2	-	10	1325_1333	c.957_965delGCAGCCGCT	c.(955-966)ctt>ct	p.LQPL319del	RBFOX2_ENST00000262829.7_In_Frame_Del_p.AAA314del|RBFOX2_ENST00000449924.2_In_Frame_Del_p.AAA336del|RBFOX2_ENST00000438146.2_In_Frame_Del_p.AAA407del|RBFOX2_ENST00000397303.2_In_Frame_Del_p.AAA313del|RBFOX2_ENST00000416721.2_In_Frame_Del_p.AAA332del|RBFOX2_ENST00000359369.4_In_Frame_Del_p.LQPL322del|RBFOX2_ENST00000414461.2_In_Frame_Del_p.LQPL322del	NM_001031695.2|NM_001082576.1|NM_001082577.1|NM_014309.2	NP_001026865.1|NP_001076045.1|NP_001076046.1|NP_055124.1	O43251	RFOX2_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 2	42	Ala-rich.				estrogen receptor signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of cell proliferation|RNA splicing	cytoplasm|nucleus	nucleotide binding|RNA binding|transcription corepressor activity|transcription factor binding			endometrium(4)|large_intestine(7)|lung(7)	18						CGTCACTGTAagcggctgcagcggctgca	0.526													7	115	---	---	---	---					
