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
SPTB	6710	broad.mit.edu	37	14	65241859	65241859	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:65241859G>A	ENST00000389722.3	-	22	4879	c.4826C>T	c.(4825-4827)tCc>tTc	p.S1609F	SPTB_ENST00000389721.5_Missense_Mutation_p.S1609F|SPTB_ENST00000542895.1_Missense_Mutation_p.S1609F|SPTB_ENST00000389720.3_Missense_Mutation_p.S1609F|SPTB_ENST00000556626.1_Missense_Mutation_p.S1609F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1609					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)		GATCTCATCGGAGATGACGTA	0.612000													56	103					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32335956	32335956	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr18:32335956G>T	ENST00000283365.9	+	3	367	c.16G>T	c.(16-18)Ggg>Tgg	p.G6W	DTNA_ENST00000348997.5_Missense_Mutation_p.G6W|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000598774.1_Missense_Mutation_p.G6W|DTNA_ENST00000269191.6_Missense_Mutation_p.G6W|DTNA_ENST00000598142.1_Missense_Mutation_p.G6W|DTNA_ENST00000595022.1_Missense_Mutation_p.G6W|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000399113.3_Missense_Mutation_p.G6W|DTNA_ENST00000596745.1_Missense_Mutation_p.G6W|DTNA_ENST00000444659.1_Missense_Mutation_p.G6W|DTNA_ENST00000399121.5_Missense_Mutation_p.G6W|DTNA_ENST00000269190.7_Missense_Mutation_p.G6W|DTNA_ENST00000554864.3_Missense_Mutation_p.G6W|DTNA_ENST00000597599.1_Missense_Mutation_p.G6W|DTNA_ENST00000315456.6_Missense_Mutation_p.G6W|DTNA_ENST00000598334.1_Missense_Mutation_p.G6W	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	6	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						TGAAGATAGTGGGAAAAGAGG	0.378000													7	28					0.00307968	0.0031111	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222428650	222428650	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:222428650G>A	ENST00000281821.2	-	3	665	c.624C>T	c.(622-624)gtC>gtT	p.V208V	EPHA4_ENST00000409938.1_Silent_p.V208V|EPHA4_ENST00000409854.1_Silent_p.V208V|EPHA4_ENST00000392071.4_Silent_p.V157V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	208	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CCAGATTGCGGACTGTGAGTG	0.507000													35	62					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887320	12887320	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:12887320G>A	ENST00000535591.1	-	3	732	c.537C>T	c.(535-537)ccC>ccT	p.P179P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	179										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GTGTCAGGATGGGCAGTATCC	0.488000													144	218					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	24048840	24048840	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:24048840G>A	ENST00000546136.1	-	1	120	c.118C>T	c.(118-120)Ccc>Tcc	p.P40S	SOX5_ENST00000381381.2_Missense_Mutation_p.P40S|SOX5_ENST00000537393.1_Missense_Mutation_p.P53S|SOX5_ENST00000441133.2_Missense_Mutation_p.P53S|SOX5_ENST00000541847.1_Missense_Mutation_p.P43S|SOX5_ENST00000451604.2_Missense_Mutation_p.P53S|SOX5_ENST00000309359.1_Missense_Mutation_p.P40S|SOX5_ENST00000541536.1_Missense_Mutation_p.P40S|SOX5_ENST00000545921.1_Missense_Mutation_p.P43S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	53					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACATGCAAGGGAAGGTGAAAG	0.527000													77	221					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187120	27187120	+	Silent	SNP	C	C	T	rs144914171		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:27187120C>T	ENST00000222728.3	-	1	273	c.249G>A	c.(247-249)aaG>aaA	p.K83K	HOXA-AS3_ENST00000521231.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	83						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CACTGAGGTCCTTATCAGAAT	0.602000													32	44					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556126	176556126	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:176556126G>A	ENST00000280187.7	-	8	812	c.767C>T	c.(766-768)tCg>tTg	p.S256L	GPM6A_ENST00000515090.1_Missense_Mutation_p.S249L|GPM6A_ENST00000506894.1_Missense_Mutation_p.S245L|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Missense_Mutation_p.S256L	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	256						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CTCTTCCTTCGACTTGATGTC	0.443000													19	17					0	0	1	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91356869	91356869	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:91356869C>T	ENST00000261991.3	-	14	1971	c.1798G>A	c.(1798-1800)Gat>Aat	p.D600N	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.D521N	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	600	Protein kinase 2.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CAGGACTCATCGTAGCCGTTC	0.483000													13	18					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50884363	50884363	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:50884363G>A	ENST00000313478.7	-	26	4350	c.4069C>T	c.(4069-4071)Cca>Tca	p.P1357S	TRPM7_ENST00000560955.1_Missense_Mutation_p.P1357S	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1357					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ACAGCACTTGGGAATAAGGCA	0.398000													14	26					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838456	16838456	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:16838456C>T	ENST00000355661.3	-	11	1767	c.1757G>A	c.(1756-1758)cGg>cAg	p.R586Q	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.R586Q|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.R586Q|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	586	Interaction with CTNND1.|Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TGTGTGTGGCCGCCGGGGTGG	0.662000													18	33					0	0	1	0	0
RANBP3	8498	broad.mit.edu	37	19	5941688	5941688	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:5941688G>A	ENST00000340578.6	-	5	407	c.350C>T	c.(349-351)cCt>cTt	p.P117L	RANBP3_ENST00000591092.1_Missense_Mutation_p.P49L|RANBP3_ENST00000439268.2_Missense_Mutation_p.P117L|RANBP3_ENST00000591124.1_5'UTR|RANBP3_ENST00000034275.8_Missense_Mutation_p.P49L|RANBP3_ENST00000541471.1_Intron	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	117					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						CTTGACAGGAGGGCAGTAATT	0.408000													36	65					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237955459	237955459	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:237955459G>A	ENST00000366574.2	+	94	13935	c.13618G>A	c.(13618-13620)Gaa>Aaa	p.E4540K	RYR2_ENST00000542537.1_Missense_Mutation_p.E4524K|RYR2_ENST00000360064.6_Missense_Mutation_p.E4546K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4540					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)			AAGTTCAAGTGAAAATGCCAA	0.478000													4	12					0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420545	55420545	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:55420545G>A	ENST00000242994.3	+	2	700	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	108	Helix-loop-helix motif.				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TGACGCCCTGGATAACCTGAG	0.483000													31	50					0	0	1	0	0
TMEM190	147744	broad.mit.edu	37	19	55889382	55889382	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:55889382C>T	ENST00000291934.3	+	5	363	c.345C>T	c.(343-345)ttC>ttT	p.F115F	CTD-2105E13.15_ENST00000595064.1_RNA	NM_139172.1	NP_631911.1	Q8WZ59	TM190_HUMAN	transmembrane protein 190	115						integral to membrane				large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		TGCCCGGTTTCCTGGCGGGTC	0.706000													22	21					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939511	22939511	+	Missense_Mutation	SNP	G	G	A	rs74170737		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:22939511G>A	ENST00000397104.3	-	7	2659	c.2660C>T	c.(2659-2661)cCg>cTg	p.P887L						zinc finger protein 99									p.P887Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACATTTGTACGGTTTCTCCCC	0.353000													20	22					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427788	37427788	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr13:37427788C>T	ENST00000379826.4	-	6	1370	c.1028G>A	c.(1027-1029)gGa>gAa	p.G343E	SMAD9_ENST00000399275.2_Missense_Mutation_p.G343E|SMAD9_ENST00000350148.5_Missense_Mutation_p.G306E	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	343	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ATACACCTCTCCCCCGACGTA	0.537000													12	27					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13429817	13429817	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:13429817C>T	ENST00000254508.5	-	5	752	c.670G>A	c.(670-672)Gag>Aag	p.E224K		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	224					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGACAGCCTCCTGGATGCGA	0.577000													44	57					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124350579	124350579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:124350579C>T	ENST00000409039.3	+	40	6797	c.6772C>T	c.(6772-6774)Cga>Tga	p.R2258*		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2258	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTTGAAATATCGACCATACTG	0.328000													20	17					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564578	84564578	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:84564578G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							GGTCAGAGCAGAGCCTGTCCA	0.512000													4	5					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6202345	6202345	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:6202345G>A	ENST00000262450.3	-	15	2378	c.2279C>T	c.(2278-2280)aCc>aTc	p.T760I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	760	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTTGATGATGGTGGAGAGGGG	0.637000													32	38					0	0	1	0	0
ZNF365	22891	broad.mit.edu	37	10	64159529	64159529	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr10:64159529C>T	ENST00000395254.3	+	5	1485	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	ZNF365_ENST00000395255.3_Intron|ZNF365_ENST00000410046.3_Intron|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AAGCCAACAGCCATTGTGAAC	0.507000													13	4					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33087558	33087558	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:33087558G>A	ENST00000334274.4	+	8	1554		c.e8+1		TCP11L1_ENST00000432887.1_Splice_Site|TCP11L1_ENST00000324357.9_Splice_Site|TCP11L1_ENST00000531632.2_Splice_Site	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1											kidney(1)|liver(2)|lung(2)|skin(1)	6						TGCACCTGCCGTAAGTGGAAC	0.542000											OREG0020866	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	91					0	0	1	0	0
OR5D16	390144	broad.mit.edu	37	11	55606440	55606440	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:55606440G>A	ENST00000378396.1	+	1	213	c.213G>A	c.(211-213)gtG>gtA	p.V71V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TCTCCTTTGTGGATTTCTGCT	0.413000													78	111					0	0	1	0	0
PHYH	5264	broad.mit.edu	37	10	13323040	13323040	+	Missense_Mutation	SNP	A	A	C			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr10:13323040A>C	ENST00000396920.3	-	8	1252	c.848T>G	c.(847-849)aTc>aGc	p.I283S	PHYH_ENST00000396913.2_Missense_Mutation_p.I200S|PHYH_ENST00000263038.4_Missense_Mutation_p.I300S			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	300					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTCCTTCTCGATGTTTTCTTG	0.408000													51	45					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52525371	52525371	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:52525371C>T	ENST00000345716.4	+	20	3880	c.3746C>T	c.(3745-3747)tCc>tTc	p.S1249F	NISCH_ENST00000479054.1_Missense_Mutation_p.S1249F	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1249					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGTGCAGGTTCCACCCCGATG	0.662000													20	32					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745639	33745639	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:33745639C>T	ENST00000403687.3	+	6	996	c.256C>T	c.(256-258)Cct>Tct	p.P86S	RASGRP3_ENST00000407811.1_Missense_Mutation_p.P86S|RASGRP3_ENST00000402538.3_Missense_Mutation_p.P86S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	86	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TCTGAAGTTTCCTGCAGAGTT	0.398000													68	145					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								20	41					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1276685	1276685	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:1276685G>A	ENST00000447027.1	+	37	16030	c.15972G>A	c.(15970-15972)agG>agA	p.R5324R	MUC5B_ENST00000529681.1_Silent_p.R5321R			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5321					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACTGCAGGGGCCGCCTTG	0.662000													6	14					0	0	1	0	0
KRT75	9119	broad.mit.edu	37	12	52822453	52822453	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:52822453C>T	ENST00000252245.5	-	6	1330	c.1110G>A	c.(1108-1110)atG>atA	p.M370I		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	370	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TCATGCGGTTCATTTCAGAGA	0.512000													20	32					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8465523	8465523	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:8465523G>A	ENST00000381196.4	-	29	4200	c.3657C>T	c.(3655-3657)ctC>ctT	p.L1219L	PTPRD_ENST00000486161.1_Silent_p.L808L|PTPRD_ENST00000540109.1_Silent_p.L1219L|PTPRD_ENST00000355233.5_Silent_p.L808L|PTPRD_ENST00000397611.3_Silent_p.L805L|PTPRD_ENST00000358503.5_Silent_p.L1197L|PTPRD_ENST00000360074.4_Silent_p.L1206L|PTPRD_ENST00000397606.3_Silent_p.L798L|PTPRD_ENST00000397617.3_Silent_p.L798L|PTPRD_ENST00000356435.5_Silent_p.L1219L|PTPRD_ENST00000537002.1_Silent_p.L805L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1219					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GACCACTTTGGAGTTGCTTGT	0.403000										TSP Lung(15;0.13)			50	59					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39876562	39876562	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:39876562G>A	ENST00000260356.5	+	6	1130	c.965G>A	c.(964-966)gGa>gAa	p.G322E		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	322	VWFC.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TATCACAACGGAGTTCAGTAC	0.483000													20	39					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761825	92761825	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:92761825C>T	ENST00000318238.4	-	5	4676	c.3460G>A	c.(3460-3462)Gaa>Aaa	p.E1154K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1154K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1154K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1154										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)			TCCGCAGCTTCTAGGAGATGT	0.413000													54	129					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79205641	79205641	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:79205641G>A	ENST00000264895.6	+	13	1778	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	FRAS1_ENST00000264899.6_Silent_p.Q446Q|FRAS1_ENST00000325942.6_Silent_p.Q446Q	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	446					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTTACTGCAGAATGGATGGT	0.493000													71	125					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84494308	84494308	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr16:84494308G>A	ENST00000416219.2	+	25	2558	c.2469G>A	c.(2467-2469)cgG>cgA	p.R823R	ATP2C2_ENST00000262429.4_Silent_p.R794R|ATP2C2_ENST00000420010.2_3'UTR|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	794					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGCCACCACGGAGTGTGCGGG	0.542000													53	35					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179428333	179428333	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:179428333C>T	ENST00000589042.1	-	326	82750	c.82526G>A	c.(82525-82527)cGa>cAa	p.R27509Q	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R18444Q|TTN_ENST00000342992.6_Missense_Mutation_p.R24941Q|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18569Q|TTN_ENST00000342175.6_Missense_Mutation_p.R18636Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R25868Q|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25868	Fibronectin type-III 100.						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)			TTCCTTATCTCGTTTTTCAAG	0.468000													51	80					0	0	1	0	0
BRD7	29117	broad.mit.edu	37	16	50388818	50388818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr16:50388818G>A	ENST00000394688.3	-	3	433	c.274C>T	c.(274-276)Cga>Tga	p.R92*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.R92*|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	92					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TCTCGATCTCGCTTCTTTTTA	0.398000													25	12					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515031	233515031	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:233515031G>A	ENST00000366624.3	+	9	2540	c.2279G>A	c.(2278-2280)cGa>cAa	p.R760Q	MLK4_ENST00000366622.1_Missense_Mutation_p.R206Q	NM_032435.2	NP_115811.2																					AAGAAGAAACGAGAGGGAATC	0.602000													35	64					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44890749	44890749	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:44890749G>A	ENST00000330997.4	-	4	1722	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	ZNF285_ENST00000591679.1_Missense_Mutation_p.S560L|ZNF285_ENST00000544719.2_Missense_Mutation_p.S553L|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AAGGAGGTATGAATTACGACT	0.468000													35	44					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131283179	131283179	+	Silent	SNP	G	G	A	rs138712970		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:131283179G>A	ENST00000512055.1	-	15	3068	c.942C>T	c.(940-942)ttC>ttT	p.F314F	CPNE4_ENST00000429747.1_Silent_p.F314F|CPNE4_ENST00000512332.1_Silent_p.F332F|CPNE4_ENST00000511604.1_Silent_p.F314F|CPNE4_ENST00000502818.1_Silent_p.F332F			Q96A23	CPNE4_HUMAN	copine IV	314	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TTGAGGCAGTGAAATCTATAG	0.443000													24	43					0	0	1	0	0
EVI5L	115704	broad.mit.edu	37	19	7911564	7911564	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:7911564C>T	ENST00000270530.4	+	2	332	c.137_splice	c.e2+1	p.R46_splice	EVI5L_ENST00000538904.2_Splice_Site_p.R46_splice	NM_145245.3	NP_660288.1	Q96CN4	EVI5L_HUMAN	ecotropic viral integration site 5-like	46						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						AGAGCAGAACCGGTGAGTTGG	0.652000													15	24					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817955	7817955	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:7817955G>A	ENST00000329434.2	-	1	565	c.535C>T	c.(535-537)Ccc>Tcc	p.P179S	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAAGTAAGGGAGCGAAATCA	0.403000													7	28					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90059162	90059162	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:90059162C>T	ENST00000405460.2	+	59	12257	c.12161C>T	c.(12160-12162)tCa>tTa	p.S4054L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4054					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)		GACCCTGATTCATATGTGACA	0.413000													11	13					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15872995	15872995	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr21:15872995T>C	ENST00000285670.2	-	7	1001	c.827A>G	c.(826-828)aAc>aGc	p.N276S	SAMSN1_ENST00000400566.1_Missense_Mutation_p.N208S|SAMSN1_ENST00000400564.1_Missense_Mutation_p.N40S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	208	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CACTTTATTGTTCAACATTCC	0.388000													42	53					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43515367	43515367	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:43515367G>A	ENST00000265351.7	-	19	2348	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	713					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TAAGCCACACGGATCCTCCAG	0.498000													9	59					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686470	54686470	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:54686470G>A	ENST00000540264.2	-	2	1319	c.810C>T	c.(808-810)atC>atT	p.I270I	NFE2_ENST00000435572.2_Silent_p.I270I|RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000553070.1_Silent_p.I270I|NFE2_ENST00000312156.4_Silent_p.I270I			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	270					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CCCGTCGTCGGATGTCCCGGA	0.562000													26	27					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60348073	60348073	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr20:60348073G>A	ENST00000360469.5	+	4	499	c.411G>A	c.(409-411)aaG>aaA	p.K137K	CDH4_ENST00000543233.1_Silent_p.K63K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	137					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAAAGGAAAGAAGGTCGTGG	0.567000													17	30					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10772938	10772938	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:10772938G>A	ENST00000075503.3	-	11	1594	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	358	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGACTTCATGATACTGTACC	0.517000										HNSCC(73;0.22)			109	89					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860273	113860273	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:113860273C>T	ENST00000504030.2	+	9	1670	c.1225C>T	c.(1225-1227)Cgg>Tgg	p.R409W	HTR3A_ENST00000299961.5_Missense_Mutation_p.R394W|HTR3A_ENST00000355556.2_Missense_Mutation_p.R447W|HTR3A_ENST00000375498.2_Missense_Mutation_p.R415W|HTR3A_ENST00000535865.1_Missense_Mutation_p.R153W|HTR3A_ENST00000506841.2_Missense_Mutation_p.R441W			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	409			R -> Q.		digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCCACCACCTCGGGAGGCCTC	0.637000													38	59					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52414121	52414121	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:52414121G>A	ENST00000420323.2	+	48	7839	c.7578G>A	c.(7576-7578)aaG>aaA	p.K2526K		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2526					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGATGTCAAGTCCTACGAGC	0.617000													6	7					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461320	12461320	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:12461320C>T	ENST00000242804.4	-	6	1661	c.1079G>A	c.(1078-1080)tGt>tAt	p.C360Y	ZNF442_ENST00000438182.1_Missense_Mutation_p.C291Y	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TGAACTAGGACAATCAAAGCC	0.428000													69	132					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599572	3599572	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:3599572C>T	ENST00000302006.3	+	2	562	c.510C>T	c.(508-510)acC>acT	p.T170T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCAAGATGACCCTCACGCAGG	0.612000													47	68					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689859	79689859	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:79689859G>A	ENST00000261205.4	+	7	1142	c.485G>A	c.(484-486)gGg>gAg	p.G162E	SYT1_ENST00000393240.3_Missense_Mutation_p.G162E|SYT1_ENST00000552744.1_Missense_Mutation_p.G162E|SYT1_ENST00000457153.2_Missense_Mutation_p.G159E	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	162	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CTGCTGGTAGGGATCATTCAG	0.423000													20	27					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220096764	220096764	+	Splice_Site	SNP	T	T	C			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:220096764T>C	ENST00000323348.5	+	3	435		c.e3+2		ANKZF1_ENST00000410034.3_Splice_Site|ANKZF1_ENST00000409849.1_Intron	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1							intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGAACAGGTAATAGGTCAG	0.428000													26	41					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76752594	76752594	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr18:76752594C>T	ENST00000536229.3	+	1	913	c.204C>T	c.(202-204)gcC>gcT	p.A68A	SALL3_ENST00000575389.2_Silent_p.A201A|SALL3_ENST00000537592.2_Silent_p.A201A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CAGCTGCAGCCGTGCCCCTGA	0.697000													9	9					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45369600	45369600	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:45369600C>T	ENST00000560629.1	+	10	1321	c.1321C>T	c.(1321-1323)Cgt>Tgt	p.R441C	ITGB3_ENST00000435993.2_Silent_p.I405I|ITGB3_ENST00000559488.1_Silent_p.I452I			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	ACAGCCTGATCGTCCAGGTCA	0.547000													27	29					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808729	18808729	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:18808729C>T	ENST00000400664.1	+	1	1306	c.1254C>T	c.(1252-1254)atC>atT	p.I418I		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	418						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCTTCCATATCCCGCTCACCC	0.652000													27	33					0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18795419	18795419	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:18795419C>T	ENST00000380548.4	+	20	4041	c.3702C>T	c.(3700-3702)tcC>tcT	p.S1234S	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1234	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CAGATGATTCCTTACAGATCT	0.458000													18	42					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107866741	107866741	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:107866741T>A	ENST00000379028.3	-	9	1102	c.632A>T	c.(631-633)gAc>gTc	p.D211V	NRCAM_ENST00000413765.2_Missense_Mutation_p.D211V|NRCAM_ENST00000379022.4_Missense_Mutation_p.D211V|NRCAM_ENST00000379024.4_Missense_Mutation_p.D211V|NRCAM_ENST00000425651.2_Missense_Mutation_p.D211V|NRCAM_ENST00000351718.4_Missense_Mutation_p.D205V			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	211	Ig-like 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTCGCGGGTGTCCTCTGGGAG	0.418000													37	101					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38889218	38889218	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:38889218G>T	ENST00000302328.3	-	26	4541	c.4343C>A	c.(4342-4344)aCc>aAc	p.T1448N	SCN11A_ENST00000450244.1_Missense_Mutation_p.T1448N|SCN11A_ENST00000456224.3_Missense_Mutation_p.T1410N	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1448					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATTTTCCAAGGTAGAAATCAT	0.502000													15	17					1.3612e-06	1.39406e-06	1	1	0
ALK	238	broad.mit.edu	37	2	29449858	29449858	+	Silent	SNP	A	A	C			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:29449858A>C	ENST00000389048.3	-	18	3903	c.2997T>G	c.(2995-2997)ccT>ccG	p.P999P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	999					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TGTGGCTTTCAGGGTCCATGT	0.552000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				52	111					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15835640	15835640	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr16:15835640C>T	ENST00000338282.6	-	21	2735	c.2629G>A	c.(2629-2631)Gag>Aag	p.E877K	MYH11_ENST00000452625.2_Missense_Mutation_p.E884K|MYH11_ENST00000396324.3_Missense_Mutation_p.E884K|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000300036.5_Missense_Mutation_p.E877K|MYH11_ENST00000576790.1_Missense_Mutation_p.E877K	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	877					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TGTTCCAGCTCCTTAAGCTCA	0.607000			T	CBFB	AML								152	50					0	0	1	0	0
PARP6	56965	broad.mit.edu	37	15	72541600	72541600	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:72541600G>A	ENST00000569795.1	-	20	2234	c.1547C>T	c.(1546-1548)tCc>tTc	p.S516F	PARP6_ENST00000287196.9_Missense_Mutation_p.S516F|PARP6_ENST00000260376.7_Intron|PARP6_ENST00000413097.2_Intron			Q2NL67	PARP6_HUMAN	poly (ADP-ribose) polymerase family, member 6	516	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GTATCCAAAGGAAATACTGGA	0.478000													21	24					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143550924	143550924	+	Missense_Mutation	SNP	T	T	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:143550924T>A	ENST00000316549.6	-	2	523	c.315A>T	c.(313-315)aaA>aaT	p.K105N		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	105					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CTCTTTTGTATTTATATTCAT	0.328000													15	14					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28420712	28420712	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:28420712G>A	ENST00000261609.7	-	64	9885	c.9777C>T	c.(9775-9777)atC>atT	p.I3259I		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3259					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.I3259I(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCACATGCACGATCTTCTTCC	0.637000													12	13					0	0	1	0	0
BNIP3P1	319138	broad.mit.edu	37	14	28734072	28734072	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:28734072G>A	ENST00000550043.1	+	0	477																											GAGAAGGAAGGAAGTTGAAAG	0.438000													19	37					0	0	1	0	0
HAX1	10456	broad.mit.edu	37	1	154247925	154247925	+	Silent	SNP	A	A	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:154247925A>T	ENST00000328703.7	+	6	933	c.720A>T	c.(718-720)gtA>gtT	p.V240V	HAX1_ENST00000457918.2_Silent_p.V192V|HAX1_ENST00000483970.2_Silent_p.V248V|HAX1_ENST00000532105.1_Silent_p.V112V	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	240	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGACTACAGTAACCCGACACG	0.493000									Kostmann syndrome				53	115					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37564965	37564965	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:37564965G>A	ENST00000300651.6	-	17	3732	c.3509C>T	c.(3508-3510)aCc>aTc	p.T1170I	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1170	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTCATCTTGGTGCTGCTAGA	0.488000										HNSCC(31;0.082)			36	41					0	0	1	0	0
MMP27	64066	broad.mit.edu	37	11	102562675	102562675	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:102562675C>T	ENST00000260229.4	-	10	1455	c.1364G>A	c.(1363-1365)cGa>cAa	p.R455Q		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	455	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TCTCATGATTCGGGTAATATT	0.358000													16	23					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517423	195517423	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:195517423G>A	ENST00000463781.3	-	2	1487	c.1028C>T	c.(1027-1029)aCc>aTc	p.T343I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T343I|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	348					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGTGAGGGTGTTGAGGGT	0.463000													65	113					0	0	1	0	0
CHST4	10164	broad.mit.edu	37	16	71571180	71571180	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr16:71571180C>T	ENST00000338482.5	+	3	943	c.600C>T	c.(598-600)atC>atT	p.I200I	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.I200I|CHST4_ENST00000572450.1_Silent_p.I200I|RP11-510M2.9_ENST00000572693.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	200					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						ACCTGCATATCGTGCACCTGG	0.607000													28	17					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373225	84373225	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:84373225G>A	ENST00000286744.5	+	3	378	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.G52R	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	52						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGACACAACAGGGGAGCAGTT	0.468000													69	80					0	0	1	0	0
HERC2P4	100289574	broad.mit.edu	37	16	32163513	32163513	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr16:32163513G>A	ENST00000564145.1	-	0	65																											CCTTCGGGGTGATGCCAGTCA	0.547000													16	36					0	0	1	0	0
ZNF517	340385	broad.mit.edu	37	8	146032829	146032829	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:146032829C>T	ENST00000359971.3	+	5	635	c.528C>T	c.(526-528)ccC>ccT	p.P176P	ZNF517_ENST00000531720.1_Silent_p.P176P|ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron	NM_213605.2	NP_998770.2	Q6ZMY9	ZN517_HUMAN	zinc finger protein 517	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			GCTCAGCCCCCCGCTACAGGT	0.652000													3	5					0	0	1	0	0
CSHL1	1444	broad.mit.edu	37	17	61987988	61987988	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:61987988G>A	ENST00000392824.4	-	2	368	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L	CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000309894.5_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	46						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						ACCTGGCTCAGCCTATGCTCA	0.537000													24	64					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25756950	25756950	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:25756950G>A	ENST00000586223.1	+	0	1784					NR_033892.1																						CAAGGCCCAGGAACATGTGGG	0.692000													3	7					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155011903	155011903	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:155011903C>T	ENST00000295542.1	+	5	383	c.287C>T	c.(286-288)aCc>aTc	p.T96I	DCST1_ENST00000368419.2_Missense_Mutation_p.T96I|DCST1_ENST00000423025.2_Missense_Mutation_p.T71I|DCST1_ENST00000392480.1_Missense_Mutation_p.T96I	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	96						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GGCTGGGGGACCTCCCCTCAC	0.607000													43	78					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227385	149227385	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:149227385C>T	ENST00000407073.1	+	9	2870	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S	MBD5_ENST00000404807.1_Missense_Mutation_p.P625S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	625						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CACCATGTTCCCTCCTACTGC	0.483000													34	76					0	0	1	0	0
ASS1	445	broad.mit.edu	37	9	133364728	133364728	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:133364728G>A	ENST00000372394.1	+	13	1328	c.847G>A	c.(847-849)Gag>Aag	p.E283K	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Missense_Mutation_p.E283K|ASS1_ENST00000372393.3_Missense_Mutation_p.E283K			P00966	ASSY_HUMAN	argininosuccinate synthase 1	283			E -> K (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGGTATCTACGAGACCCCAGC	0.453000													32	83					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48273722	48273722	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:48273722G>A	ENST00000225964.5	-	14	1028	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C		NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	304	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGCAGGCCACGGGGGCCCTGA	0.652000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						3	25					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554851	40554851	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:40554851C>T	ENST00000297737.6	-	4	408	c.262G>A	c.(262-264)Gtg>Atg	p.V88M	ZMAT4_ENST00000315769.7_Missense_Mutation_p.V88M	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	88						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TCGGCCACCACCGCTGAAGTG	0.502000													30	88					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928050	32928050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:32928050C>T	ENST00000361627.3	+	11	2139	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	ARHGAP11A_ENST00000543522.1_Nonsense_Mutation_p.R284*|ARHGAP11A_ENST00000565905.1_Nonsense_Mutation_p.R284*|ARHGAP11A_ENST00000563864.1_Nonsense_Mutation_p.R445*|ARHGAP11A_ENST00000567348.1_Nonsense_Mutation_p.R473*	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	473					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R473*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTAAAAAATCGAATTGAATC	0.313000													5	12					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3228524	3228524	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chrX:3228524G>A	ENST00000217939.6	-	7	7874	c.7720C>T	c.(7720-7722)Ctg>Ttg	p.L2574L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2574	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACCCACACCAGGCTGGGTGTC	0.617000													5	2					0	0	1	0	0
TNFRSF9	3604	broad.mit.edu	37	1	7999979	7999979	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:7999979C>T	ENST00000377507.3	-	2	242	c.76G>A	c.(76-78)Gat>Aat	p.D26N		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	26					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		CTACAAGGATCCTGCAATGAT	0.448000													17	17					0	0	1	0	0
PHLDA1	22822	broad.mit.edu	37	12	76425015	76425015	+	Silent	SNP	T	T	C			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:76425015T>C	ENST00000266671.5	-	1	2697	c.507A>G	c.(505-507)aaA>aaG	p.K169K	PHLDA1_ENST00000602540.1_Silent_p.K28K|RP11-290L1.3_ENST00000552367.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	169	PH.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				TGCAACACTTTTTCTTCCAGA	0.597000													16	16					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28991351	28991351	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr18:28991351C>T	ENST00000359747.4	+	14	2381	c.2352C>T	c.(2350-2352)acC>acT	p.T784T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.T765T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	765					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCATGGGAACCCTGCGGGACT	0.572000													22	44					0	0	1	0	0
CCDC84	338657	broad.mit.edu	37	11	118886042	118886042	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:118886042C>T	ENST00000334418.1	+	10	887	c.831C>T	c.(829-831)ctC>ctT	p.L277L		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	277										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TGAAAAAACTCCCCCCAGACC	0.483000													10	19					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806761	54806761	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:54806761G>A	ENST00000306858.7	+	5	3108	c.2992G>A	c.(2992-2994)Gga>Aga	p.G998R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	998										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CAAGTTTCGAGGATTTATGCA	0.343000													16	57					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36666238	36666238	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:36666238A>G	ENST00000399881.3	+	7	696	c.659A>G	c.(658-660)aAc>aGc	p.N220S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	220						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCCTCTAGTAACTCAGTGAAG	0.438000													8	21					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324086	79324086	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:79324086G>A	ENST00000428286.1	-	8	3227	c.2027C>T	c.(2026-2028)tCa>tTa	p.S676L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.S1035L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1035					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGTATGAGGTGAAGCCCACAT	0.453000													4	28					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20493368	20493368	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr20:20493368G>A	ENST00000202677.6	-	32	4787	c.4645C>T	c.(4645-4647)Cca>Tca	p.P1549S		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	1549					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATGCCACATGGGGTTAGGGAA	0.413000													27	53					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19974778	19974778	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:19974778G>A	ENST00000295824.9	-	1	894	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	EFHB_ENST00000344838.4_Missense_Mutation_p.R115C|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	245					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GGTCTGATGCGATCTGGAGGT	0.458000													7	23					0	0	1	0	0
COX6C	1345	broad.mit.edu	37	8	100904232	100904232	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:100904232C>A	ENST00000520468.2	-	2	472	c.18G>T	c.(16-18)ttG>ttT	p.L6F	COX6C_ENST00000524245.1_Missense_Mutation_p.L6F|COX6C_ENST00000520271.1_Missense_Mutation_p.L6F|COX6C_ENST00000522940.1_Missense_Mutation_p.L6F|COX6C_ENST00000518171.1_Missense_Mutation_p.L6F|COX6C_ENST00000523016.1_Missense_Mutation_p.L6F|COX6C_ENST00000517682.2_Missense_Mutation_p.L6F|COX6C_ENST00000297564.2_Missense_Mutation_p.L6F	NM_004374.3	NP_004365.1	P09669	COX6C_HUMAN	cytochrome c oxidase subunit VIc	6					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity		HMGA2/COX6C(2)	liver(1)|lung(2)	3			all cancers(13;8.32e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAGGTTTTGGCAAAACTTCGG	0.443000			T	HMGA2	uterine leiomyoma								4	168					0.184627	0.185251	1	1	0
HAX1	10456	broad.mit.edu	37	1	154247927	154247927	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:154247927C>T	ENST00000328703.7	+	6	935	c.722C>T	c.(721-723)aCc>aTc	p.T241I	HAX1_ENST00000457918.2_Missense_Mutation_p.T193I|HAX1_ENST00000483970.2_Missense_Mutation_p.T249I|HAX1_ENST00000532105.1_Missense_Mutation_p.T113I	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	241	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTACAGTAACCCGACACGAA	0.493000									Kostmann syndrome				55	112					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531338	140531338	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:140531338C>T	ENST00000231136.1	+	1	1500	c.1500C>T	c.(1498-1500)tcC>tcT	p.S500S	PCDHB6_ENST00000543635.1_Silent_p.S364S	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCTCTTCCCTGGTCTCCA	0.652000													94	150					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450266	46450266	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:46450266G>A	ENST00000399036.3	+	2	1048	c.696G>A	c.(694-696)caG>caA	p.Q232Q	ACKR5_ENST00000357392.4_Silent_p.Q244Q|ACKR5_ENST00000400880.3_Silent_p.Q232Q|ACKR5_ENST00000400882.2_Silent_p.Q232Q	NM_003965.4	NP_003956.2																					TCAGGGAGCAGAGGTATAGCC	0.383000													90	119					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64120576	64120576	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:64120576G>A	ENST00000356786.5	+	21	3595	c.3551G>A	c.(3550-3552)gGt>gAt	p.G1184D	CCDC88B_ENST00000359902.2_Missense_Mutation_p.G336D|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1184					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAGCTGCAGGGTGAACGCGGG	0.687000													4	11					0	0	1	0	0
MISP	126353	broad.mit.edu	37	19	757303	757303	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:757303G>A	ENST00000215582.6	+	2	460	c.357G>A	c.(355-357)aaG>aaA	p.K119K		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GGGAGGACAAGGAGATGAAGA	0.667000													14	32					0	0	1	0	0
DTNBP1	84062	broad.mit.edu	37	6	15627595	15627595	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:15627595C>T	ENST00000338950.5	-	5	439	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	DTNBP1_ENST00000344537.5_Missense_Mutation_p.E112K|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E112K	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	112					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GTCATGGATTCTAAGTCTGCG	0.453000									Hermansky-Pudlak syndrome				15	79					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985250	140985250	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chrX:140985250G>T	ENST00000298296.1	+	7	1706	c.1706G>T	c.(1705-1707)tGg>tTg	p.W569L	MAGEC3_ENST00000443323.2_Missense_Mutation_p.W191L|MAGEC3_ENST00000409007.1_Missense_Mutation_p.W271L|MAGEC3_ENST00000544766.1_Missense_Mutation_p.W271L|MAGEC3_ENST00000536088.1_Missense_Mutation_p.W271L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	569	MAGE 2.							p.W569L(1)|p.W271L(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGTCATCTGGGAAGTGTTG	0.493000													51	19					3.48956e-15	3.63649e-15	1	1	0
NOL6	65083	broad.mit.edu	37	9	33470055	33470055	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:33470055G>A	ENST00000379471.2	-	4	600	c.513C>T	c.(511-513)tgC>tgT	p.C171C	NOL6_ENST00000455041.2_Intron|NOL6_ENST00000464829.1_5'UTR			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	171					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTGGTCGGATGCAGGTGCCCA	0.587000													10	29					0	0	1	0	0
FAM49B	51571	broad.mit.edu	37	8	130861604	130861604	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:130861604C>T	ENST00000519824.2	-	10	998	c.725G>A	c.(724-726)aGc>aAc	p.S242N	FAM49B_ENST00000519110.1_Missense_Mutation_p.S242N|FAM49B_ENST00000401979.2_Missense_Mutation_p.S242N|FAM49B_ENST00000522746.1_Missense_Mutation_p.S242N|FAM49B_ENST00000522250.1_Missense_Mutation_p.S96N|FAM49B_ENST00000522941.1_Missense_Mutation_p.S96N|FAM49B_ENST00000523509.1_Missense_Mutation_p.S242N|FAM49B_ENST00000519540.1_Missense_Mutation_p.S242N|FAM49B_ENST00000517654.1_Missense_Mutation_p.S242N	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	242										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TGTAAATCTGCTTCTGTATTC	0.373000													12	35					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38954455	38954455	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:38954455G>A	ENST00000355481.4	+	22	2882	c.2751G>A	c.(2749-2751)agG>agA	p.R917R	RYR1_ENST00000360985.3_Silent_p.R917R|RYR1_ENST00000359596.3_Silent_p.R917R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	917	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)	AGCCTGAGAGGAACTACAACC	0.617000													31	55					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247419	149247419	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:149247419G>A	ENST00000407073.1	+	12	4516	c.3519G>A	c.(3517-3519)ggG>ggA	p.G1173G	MBD5_ENST00000404807.1_Silent_p.G1406G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1173						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TAGACCATGGGAAAAATGTGA	0.507000													30	50					0	0	1	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751761	26751761	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:26751761A>G	ENST00000396641.2	+	2	1190	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	LRRC3B_ENST00000417744.1_Missense_Mutation_p.K200E|LRRC3B_ENST00000456208.2_Missense_Mutation_p.K200E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	200						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CCTCCCTAAAAAAACTACCGA	0.473000													10	6					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059684	9059684	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:9059684C>T	ENST00000397910.4	-	3	27965	c.27762G>A	c.(27760-27762)atG>atA	p.M9254I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9256	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTGATACCCATTGAAGATG	0.458000													39	56					0	0	1	0	0
IKBIP	121457	broad.mit.edu	37	12	99038456	99038456	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:99038456C>T	ENST00000299157.4	-	1	397	c.24G>A	c.(22-24)aaG>aaA	p.K8K	IKBIP_ENST00000342502.2_Silent_p.K8K|IKBIP_ENST00000393042.3_Silent_p.K8K|IKBIP_ENST00000420861.1_5'UTR	NM_153687.3	NP_710154.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	8					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						GCCCCGACTTCTTCCGGCTCT	0.706000													22	36					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102391518	102391518	+	Missense_Mutation	SNP	G	G	A	rs147942579	byFrequency	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:102391518G>A	ENST00000422945.2	+	16	1673	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	PPP2R5C_ENST00000328724.5_Missense_Mutation_p.R511H|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.R456H|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.R495H	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	495					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTGCACGCCGCAAGTCCGAG	0.572000													6	217					0	0	1	0	0
RPAP2	79871	broad.mit.edu	37	1	92789810	92789810	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:92789810C>T	ENST00000370343.3	+	8	1442	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	445						integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGCCATTAAACCACTGCCAAG	0.423000													28	33					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846121	18846121	+	RNA	SNP	C	C	T	rs4302302		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:18846121C>T	ENST00000412938.1	+	0	3479																											CACGCACTGGCGCACGATGTA	0.617000													4	52					0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885732	9885732	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:9885732C>T	ENST00000327839.3	-	1	163	c.129G>A	c.(127-129)agG>agA	p.R43R		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	43						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGGCAAATTTCCTTCTGCTCC	0.388000													51	39					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71495843	71495843	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:71495843G>A	ENST00000296755.7	+	5	6959	c.6661G>A	c.(6661-6663)Gac>Aac	p.D2221N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2221						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)		GTCCATGGTGGACCCAGAGGC	0.537000													58	108					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41648069	41648069	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr21:41648069C>T	ENST00000400454.1	-	11	2788	c.2311G>A	c.(2311-2313)Gat>Aat	p.D771N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	771	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCGCCCACATCGTTGCTGACC	0.483000													26	44					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631407	179631407	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:179631407G>A	ENST00000444136.1	+	15	2741	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	TDRD5_ENST00000367614.1_Missense_Mutation_p.E777K|TDRD5_ENST00000294848.8_Missense_Mutation_p.E777K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	819					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.E777Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCATGTAAAGAAATGCCACA	0.473000													17	23					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81613856	81613856	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:81613856G>A	ENST00000380167.4	+	10	1737	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.A138T			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	138					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						ATTTACCAAAGCCCAAGACTG	0.537000													19	45					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157490960	157490960	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:157490960G>A	ENST00000361835.3	-	11	2519	c.2362C>T	c.(2362-2364)Cat>Tat	p.H788Y	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.H788Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	788	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACATCCTCATGAAAAAACCGG	0.592000													42	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9073213	9073213	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:9073213G>A	ENST00000397910.4	-	3	14436	c.14233C>T	c.(14233-14235)Ccc>Tcc	p.P4745S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4747	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGAAGAGGGAGAGCTGGCT	0.488000													35	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422872	179422872	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:179422872C>T	ENST00000589042.1	-	328	87433	c.87209G>A	c.(87208-87210)gGa>gAa	p.G29070E	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20005E|TTN_ENST00000342992.6_Missense_Mutation_p.G26502E|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20130E|TTN_ENST00000342175.6_Missense_Mutation_p.G20197E|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27429E|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27429	Fibronectin type-III 111.		V -> M.				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)			AAGTGGTTTTCCAGAGATTGG	0.393000													25	33					0	0	1	0	0
SALL4	57167	broad.mit.edu	37	20	50407792	50407792	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr20:50407792G>A	ENST00000217086.4	-	2	1341	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	410					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGAGCACACGAAGGGTCTCT	0.557000													37	41					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				55	46					0	0	1	0	0
TMEM26	219623	broad.mit.edu	37	10	63173249	63173249	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr10:63173249C>A	ENST00000399298.3	-	5	1018	c.650G>T	c.(649-651)tGg>tTg	p.W217L	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	217						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CAGCATGCTCCAAGTCCATAT	0.353000													13	16					1.15088e-07	1.18684e-07	1	1	0
MTNR1B	4544	broad.mit.edu	37	11	92703077	92703077	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:92703077C>T	ENST00000257068.2	+	1	192	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	62					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCCTGGTGATCCTCTCCGTGC	0.652000													4	13					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428649	222428649	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:222428649G>A	ENST00000281821.2	-	3	666	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	EPHA4_ENST00000409938.1_Missense_Mutation_p.R209C|EPHA4_ENST00000409854.1_Missense_Mutation_p.R209C|EPHA4_ENST00000392071.4_Missense_Mutation_p.R158C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	209	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GCCAGATTGCGGACTGTGAGT	0.502000													34	64					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122114482	122114482	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:122114482G>A	ENST00000334010.7	-	12	2375	c.1954C>T	c.(1954-1956)Cag>Tag	p.Q652*	CADPS2_ENST00000313070.7_Nonsense_Mutation_p.Q648*|CADPS2_ENST00000449022.2_Nonsense_Mutation_p.Q651*|CADPS2_ENST00000412584.2_Nonsense_Mutation_p.Q648*	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	651					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTCTGCCTCTGGAGTATTCTA	0.383000													25	74					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906781	13906781	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:13906781G>A	ENST00000279593.3	-	3	689	c.480C>T	c.(478-480)atC>atT	p.I160I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	160					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATTCTTCCATGATGTTGAGCA	0.423000													45	47					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121466457	121466457	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:121466457G>A	ENST00000260197.7	+	32	4624	c.4495G>A	c.(4495-4497)Gat>Aat	p.D1499N	SORL1_ENST00000534286.1_Missense_Mutation_p.D409N|SORL1_ENST00000532694.1_Missense_Mutation_p.D345N|SORL1_ENST00000525532.1_Missense_Mutation_p.D443N|SORL1_ENST00000527934.1_Missense_Mutation_p.D114N	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1499	LDL-receptor class A 10.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATTGCCAGGATGGCCGGGA	0.562000													14	27					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153046785	153046785	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chrX:153046785C>T	ENST00000489426.1	+	8	2741	c.375C>T	c.(373-375)ccC>ccT	p.P125P	SRPK3_ENST00000370100.1_Silent_p.P16P|SRPK3_ENST00000370104.1_Silent_p.P58P|SRPK3_ENST00000393786.3_Silent_p.P58P|SRPK3_ENST00000370101.3_Silent_p.P58P|SRPK3_ENST00000370108.3_Silent_p.P58P			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	58	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGACCCCAAAGACTACT	0.667000													17	5					0	0	1	0	0
OR52N1	79473	broad.mit.edu	37	11	5809771	5809771	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:5809771C>T	ENST00000317078.1	-	1	275	c.276G>A	c.(274-276)aaG>aaA	p.K92K	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K92K(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AATCAATCTCCTTGAGATTAA	0.498000													36	52					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313149	54313149	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:54313149C>T	ENST00000324134.6	-	3	1932	c.1764G>A	c.(1762-1764)aaG>aaA	p.K588K	NLRP12_ENST00000391772.1_Silent_p.K588K|NLRP12_ENST00000391775.3_Silent_p.K588K|NLRP12_ENST00000351894.4_Silent_p.K588K|NLRP12_ENST00000345770.5_Silent_p.K588K|NLRP12_ENST00000391773.1_Silent_p.K588K|NLRP12_ENST00000535162.1_Silent_p.K588K|NLRP12_ENST00000354278.3_Silent_p.K588K	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	588					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ACAGGTCCATCTTGATGTGCG	0.582000													37	47					0	0	1	0	0
MCM10	55388	broad.mit.edu	37	10	13228178	13228178	+	Silent	SNP	C	C	T	rs61755071	byFrequency	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr10:13228178C>T	ENST00000378694.1	+	8	1188	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	MCM10_ENST00000484800.2_Silent_p.I372I|MCM10_ENST00000378714.3_Silent_p.I371I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	372					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GTTTATCTATCGATCATCCTC	0.433000													79	59					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141035448	141035448	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:141035448G>A	ENST00000239440.4	-	30	4025	c.3960C>T	c.(3958-3960)atC>atT	p.I1320I	ARAP3_ENST00000508305.1_Silent_p.I1151I|ARAP3_ENST00000513878.1_Silent_p.I982I|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1320	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGGCTTTAAGGATGCTGGTGG	0.562000													39	83					0	0	1	0	0
FIZ1	84922	broad.mit.edu	37	19	56104019	56104019	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:56104019C>T	ENST00000221665.3	-	3	1377	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ACGTGCCGCTCCAGGTCTCGC	0.677000													19	38					0	0	1	0	0
CDC20B	166979	broad.mit.edu	37	5	54416362	54416362	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:54416362G>A	ENST00000296733.1	-	10	1406	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Missense_Mutation_p.P411L	NM_001170402.1|NM_152623.2	NP_001163873.1|NP_689836.2	Q86Y33	CD20B_HUMAN	cell division cycle 20B	411										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			AGACTGCCAGGGACACCAATC	0.483000													43	64					0	0	1	0	0
TRIM40	135644	broad.mit.edu	37	6	30115548	30115548	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:30115548G>A	ENST00000396581.1	+	6	1122	c.736G>A	c.(736-738)Gga>Aga	p.G246R	TRIM40_ENST00000307859.4_Missense_Mutation_p.G217R|TRIM40_ENST00000376724.2_Missense_Mutation_p.G246R			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	246						intracellular	zinc ion binding	p.G217R(1)		ovary(1)	1						GTTGGAGAAAGGAGTCAGTGA	0.448000													20	117					0	0	1	0	0
ATG14	22863	broad.mit.edu	37	14	55878529	55878529	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:55878529G>A	ENST00000247178.5	-	1	47	c.12C>T	c.(10-12)ccC>ccT	p.P4P		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	4					autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCTTCCCACTGGGAGACGCCA	0.697000													3	6					0	0	1	0	0
LGMN	5641	broad.mit.edu	37	14	93178032	93178032	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:93178032G>A	ENST00000393218.2	-	11	1128	c.791C>T	c.(790-792)aCc>aTc	p.T264I	LGMN_ENST00000334869.4_Missense_Mutation_p.T264I|LGMN_ENST00000557434.1_Missense_Mutation_p.T264I|LGMN_ENST00000555699.1_Missense_Mutation_p.T264I	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	264					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GACGTGGCTGGTGTTGGTGTG	0.498000													74	151					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711128	140711128	+	Missense_Mutation	SNP	C	C	T	rs145926133		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:140711128C>T	ENST00000517417.1	+	1	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R293C	NM_018912.2	NP_061735.1												p.R293C(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAATATTTCGTTTAGATTC	0.428000													15	34					0	0	1	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106116851	106116851	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chrX:106116851C>T	ENST00000357242.5	+	21	3193	c.3019C>T	c.(3019-3021)Cct>Tct	p.P1007S	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P1001S	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1007						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATGAGGACCCTGAAGAAGA	0.368000													33	3					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157772412	157772412	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:157772412C>T	ENST00000358292.3	-	4	413	c.362G>A	c.(361-363)gGa>gAa	p.G121E	FCRL1_ENST00000368176.3_Missense_Mutation_p.G121E|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.G121E	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	121	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACCTGTCCTCCTGGGGGCTG	0.542000													10	16					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168135072	168135072	+	Missense_Mutation	SNP	T	T	C			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:168135072T>C	ENST00000519560.1	-	26	3172	c.2753A>G	c.(2752-2754)aAt>aGt	p.N918S	SLIT3_ENST00000404867.3_Missense_Mutation_p.N918S|CTC-558O2.1_ENST00000521870.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.N925S|CTC-558O2.1_ENST00000522615.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	918	EGF-like 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAGGCAGGCATTGCATTTGGC	0.587000													19	40					0	0	1	0	0
UBE3C	9690	broad.mit.edu	37	7	157015972	157015972	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:157015972C>T	ENST00000348165.5	+	16	2387	c.2027C>T	c.(2026-2028)tCt>tTt	p.S676F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	676					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCGCCGCTGTCTGTGTCTGAG	0.428000													61	11					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209315518	209315518	+	Missense_Mutation	SNP	A	A	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:209315518A>G	ENST00000272847.2	+	8	1111	c.898A>G	c.(898-900)Act>Gct	p.T300A	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	300						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GGCACGAGCAACTCTGGCTGA	0.458000													34	42					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551633	100551633	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:100551633G>A	ENST00000397112.4	-	0	1681					NR_036632.1															large_intestine(1)|lung(3)	4						AGTCACAGGTGAAATGGTGTC	0.592000													9	16					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181019195	181019195	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:181019195G>A	ENST00000367580.5	+	3	382	c.377G>A	c.(376-378)gGa>gAa	p.G126E	MR1_ENST00000434571.2_Missense_Mutation_p.G126E|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000282990.6_Missense_Mutation_p.G126E	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	126	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGGAGGATGGAAGCACCACA	0.522000													23	29					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014767	75014767	+	Silent	SNP	G	G	A	rs144413202	byFrequency	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:75014767G>A	ENST00000379727.3	-	2	870	c.672C>T	c.(670-672)ttC>ttT	p.F224F	CYP1A1_ENST00000567032.1_Silent_p.F224F|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395049.4_Silent_p.F224F|CYP1A1_ENST00000395048.2_Silent_p.F224F			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	224					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	CCACCTCCCCGAAATTATTAT	0.493000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				32	42					0	0	1	0	0
PLA2G12A	81579	broad.mit.edu	37	4	110639902	110639902	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:110639902G>A	ENST00000243501.5	-	2	489	c.222C>T	c.(220-222)ttC>ttT	p.F74F	PLA2G12A_ENST00000502772.1_5'UTR|PLA2G12A_ENST00000502283.1_Silent_p.F74F	NM_030821.4	NP_110448.2	Q9BZM1	PG12A_HUMAN	phospholipase A2, group XIIA	74					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			kidney(1)|lung(1)|ovary(1)|skin(1)	4				OV - Ovarian serous cystadenocarcinoma(123;0.000268)		CATAACGTGGGAAAGGCTTAG	0.318000													15	18					0	0	1	0	0
CD38	952	broad.mit.edu	37	4	15780155	15780155	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:15780155G>A	ENST00000226279.2	+	1	255	c.118G>A	c.(118-120)Gcg>Acg	p.A40T		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	40					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CGTGGTGCTCGCGGTGGTCGT	0.647000													55	89					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22005419	22005419	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:22005419C>T	ENST00000261200.4	-	21	2525	c.2526G>A	c.(2524-2526)ctG>ctA	p.L842L	ABCC9_ENST00000345162.2_Silent_p.L806L|ABCC9_ENST00000261201.4_Silent_p.L842L|RP11-729I10.2_ENST00000539874.1_RNA	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	842	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGAATGTCCAGGGCTGAGA	0.383000													20	47					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124391	142124391	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:142124391G>A	ENST00000390376.2	-	0	86																											TCAGGATGTGGAATTTTGGGG	0.522000													32	119					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160067502	160067502	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:160067502C>T	ENST00000327245.5	-	10	1812	c.966G>A	c.(964-966)ggG>ggA	p.G322G		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	322					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)			GGATGAGGATCCCAATGCAGA	0.468000													49	68					0	0	1	0	0
ZNF587B	100293516	broad.mit.edu	37	19	58352564	58352564	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:58352564G>A	ENST00000442832.4	+	3	756	c.522G>A	c.(520-522)gaG>gaA	p.E174E	ZNF587B_ENST00000594901.1_Silent_p.E174E|ZNF587B_ENST00000316462.4_Intron|CTD-2583A14.10_ENST00000598031.1_Intron	NM_001204818.1	NP_001191747.1	B4DR41	B4DR41_HUMAN	zinc finger protein 587B	174					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding										TCTTCAGTGAGAGTGGGAAGG	0.507000													12	41					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749568	7749568	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:7749568G>A	ENST00000254846.5	+	6	798	c.409G>A	c.(409-411)Gga>Aga	p.G137R	KDM6B_ENST00000448097.2_Missense_Mutation_p.G137R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	137					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCTTCGATACGGAGGAAGCTT	0.627000													9	20					0	0	1	0	0
THRB	7068	broad.mit.edu	37	3	24193892	24193892	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:24193892C>T	ENST00000396671.2	-	6	721	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	THRB_ENST00000416420.1_Missense_Mutation_p.E125K|THRB_ENST00000280696.5_Missense_Mutation_p.E140K|THRB_ENST00000356447.4_Missense_Mutation_p.E125K	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	125					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.E125K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGCAGCCTTCACACGTGATA	0.507000													10	16					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53539331	53539331	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:53539331G>A	ENST00000357758.3	-	6	1670	c.1487C>T	c.(1486-1488)cCa>cTa	p.P496L	DDHD1_ENST00000395606.1_Missense_Mutation_p.P503L|DDHD1_ENST00000323669.5_Missense_Mutation_p.P496L	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	496					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TCTATAAAGTGGACTAGTATA	0.328000													7	11					0	0	1	0	0
TSPAN2	10100	broad.mit.edu	37	1	115615589	115615589	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:115615589G>A	ENST00000369516.2	-	2	140	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	TSPAN2_ENST00000369515.2_Missense_Mutation_p.R37W|TSPAN2_ENST00000369514.2_Missense_Mutation_p.R37W	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	37						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CCTCCGAACCGAAACCATAGT	0.507000													20	34					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				54	46					0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17630570	17630570	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:17630570G>A	ENST00000336737.4	-	2	217	c.192C>T	c.(190-192)atC>atT	p.I64I	CECR5_ENST00000155674.5_Silent_p.I34I|CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	64							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GAGCAGCAGGGATCACTCTGT	0.542000													46	81					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196965159	196965159	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:196965159G>A	ENST00000367414.5	+	6	926	c.870G>A	c.(868-870)gtG>gtA	p.V290V	CFHR5_ENST00000256785.4_Silent_p.V266V	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	266	Sushi 5.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TAGAACAAGTGAAAACATGTG	0.343000													33	48					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101422	58101422	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:58101422G>A	ENST00000307468.4	+	2	174	c.77G>A	c.(76-78)aGa>aAa	p.R26K	ZIK1_ENST00000597850.1_Silent_p.Q81Q|ZIK1_ENST00000536878.2_Silent_p.Q68Q|ZIK1_ENST00000599456.1_Silent_p.Q26Q			Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTTCTGACCAGAATGTTTCTG	0.458000													12	35					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63784522	63784522	+	RNA	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:63784522G>A	ENST00000539258.1	-	0	98							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CAGCCAGAAGGAGGAGGGCCA	0.577000													22	38					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51837889	51837889	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:51837889G>A	ENST00000251076.5	-	8	1108	c.821C>T	c.(820-822)cCa>cTa	p.P274L	DMXL2_ENST00000449909.3_Missense_Mutation_p.P274L|DMXL2_ENST00000543779.2_Missense_Mutation_p.P274L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	274						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACAGTCTTCTGGTAATAAAGT	0.428000													63	105					0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80887337	80887337	+	Silent	SNP	G	G	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:80887337G>T	ENST00000355528.4	+	32	3082	c.2952G>T	c.(2950-2952)ctG>ctT	p.L984L	TBCD_ENST00000539345.2_Silent_p.L984L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	984					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			ACGTCCTGCTGGGGCTAGTCG	0.677000													4	40					0.00909568	0.00915735	1	1	0
EXD1	161829	broad.mit.edu	37	15	41488054	41488054	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:41488054C>T	ENST00000314992.5	-	7	656		c.e7-1		EXD1_ENST00000458580.2_Splice_Site	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1						nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CATGGATAACCTAAGGAATCA	0.383000													11	32					0	0	1	0	0
MS4A14	84689	broad.mit.edu	37	11	60184046	60184046	+	Silent	SNP	G	G	A	rs142235413	by1000genomes	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:60184046G>A	ENST00000300187.6	+	5	1882	c.1605G>A	c.(1603-1605)caG>caA	p.Q535Q	MS4A14_ENST00000531787.1_Silent_p.Q423Q|MS4A14_ENST00000395005.2_Silent_p.Q518Q|MS4A14_ENST00000531783.1_Silent_p.Q568Q	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	535	Gln-rich.					integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCTTAGACCAGCAAATCAAAG	0.453000													32	43					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135651363	135651363	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:135651363C>T	ENST00000513104.1	-	3	1167	c.885G>A	c.(883-885)gtG>gtA	p.V295V	TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000355180.3_Intron|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	295					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTGGAAGTTCACATCACCGT	0.483000													20	24					0	0	1	0	0
TJP1	7082	broad.mit.edu	37	15	30011099	30011099	+	Missense_Mutation	SNP	G	G	A	rs35392254		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:30011099G>A	ENST00000346128.6	-	21	3721	c.3247C>T	c.(3247-3249)Cgc>Tgc	p.R1083C	TJP1_ENST00000356107.6_Missense_Mutation_p.R1083C|TJP1_ENST00000545208.2_Missense_Mutation_p.R1003C|TJP1_ENST00000400011.2_Missense_Mutation_p.R1007C	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1083					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ATGGGGACGCGATCTTCGTAT	0.483000													59	108					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102054811	102054811	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr10:102054811C>T	ENST00000318222.3	-	8	1808	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	PKD2L1_ENST00000338519.3_Missense_Mutation_p.D401N|PKD2L1_ENST00000353274.3_Missense_Mutation_p.D476N	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	476					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCCAGGATGTCCTTGGCACAG	0.502000													36	19					0	0	1	0	0
MARCH4	57574	broad.mit.edu	37	2	217142513	217142513	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:217142513G>A	ENST00000273067.4	-	3	2513	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	249						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAATACTGGCGATGAGGAAGA	0.562000													39	62					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902594	60902594	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr20:60902594G>A	ENST00000252999.3	-	37	4995	c.4929C>T	c.(4927-4929)acC>acT	p.T1643T		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1643	Laminin IV type A.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTCCTGGCGGGTGTAGGACG	0.637000													46	59					0	0	1	0	0
ZFP57	346171	broad.mit.edu	37	6	29640996	29640996	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:29640996G>A	ENST00000376883.1	-	6	1243	c.832C>T	c.(832-834)Cca>Tca	p.P278S	ZFP57_ENST00000376881.3_Missense_Mutation_p.P278S|ZFP57_ENST00000488757.1_Missense_Mutation_p.P298S			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	214					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						TGGGTGCCTGGAATCCTCAAA	0.562000													181	98					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23687440	23687440	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:23687440G>A	ENST00000546136.1	-	14	1968	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	SOX5_ENST00000381381.2_Missense_Mutation_p.P548S|SOX5_ENST00000396007.2_Missense_Mutation_p.P283S|SOX5_ENST00000537393.1_Missense_Mutation_p.P634S|SOX5_ENST00000451604.2_Missense_Mutation_p.P669S|SOX5_ENST00000309359.1_Missense_Mutation_p.P656S|SOX5_ENST00000541536.1_Missense_Mutation_p.P548S|SOX5_ENST00000545921.1_Missense_Mutation_p.P659S			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	669					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTGGCAATGGGGATCTGTGCT	0.507000													16	34					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124855603	124855603	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:124855603G>A	ENST00000321582.5	-	1	282	c.95C>T	c.(94-96)cCc>cTc	p.P32L	TTLL11_ENST00000373776.3_Missense_Mutation_p.P32L	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	32					protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						ATCGAGACGGGGTCCGGGAAG	0.701000													3	6					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113418845	113418845	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:113418845G>A	ENST00000297405.5	-	35	5961	c.5717C>T	c.(5716-5718)cCa>cTa	p.P1906L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P1802L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1836L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P1866L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1906	Sushi 10.					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						AATATATCCTGGATTACAATC	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	66					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	G	A	rs9306211		TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:18846098G>A	ENST00000412938.1	+	0	3456																											ATGCCTCGGCGCTCGATCTCC	0.622000													4	54					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203364	56203364	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr18:56203364G>A	ENST00000361673.3	-	5	4268	c.4055C>T	c.(4054-4056)tCt>tTt	p.S1352F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1352							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATCTGTGACAGATAACTCCTT	0.478000													31	64					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554310	150554310	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:150554310G>A	ENST00000493429.1	+	4	1336	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	AOC1_ENST00000416793.2_Missense_Mutation_p.R251Q|AOC1_ENST00000360937.4_Missense_Mutation_p.R251Q|AOC1_ENST00000467291.1_Missense_Mutation_p.R251Q					amine oxidase, copper containing 1																		GAACTGGCTCGGAAGTATGCA	0.632000													49	14					0	0	1	0	0
C10orf53	282966	broad.mit.edu	37	10	50902584	50902584	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr10:50902584G>A	ENST00000374111.3	+	3	230	c.217_splice	c.e3-1	p.G73_splice	C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron|C10orf53_ENST00000374113.3_3'UTR	NM_001042427.1	NP_001035892.1	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	73										endometrium(1)|lung(6)	7		all_neural(218;0.107)				GTTTCCCTAGGAGGCGATGGT	0.438000													21	13					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97454808	97454808	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:97454808C>T	ENST00000389672.5	+	16	3012	c.2974C>T	c.(2974-2976)Ccc>Tcc	p.P992S		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	897	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ACTTCCAGCTCCCATGGGCTG	0.418000													21	26					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692676	135692676	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:135692676C>T	ENST00000513104.1	-	2	682	c.400G>A	c.(400-402)Ggc>Agc	p.G134S	TRPC7_ENST00000355180.3_Missense_Mutation_p.G134S|TRPC7_ENST00000426057.2_Missense_Mutation_p.G134S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	134					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCGCTGGCCCTGCGCGAAG	0.677000													30	49					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042820	75042820	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:75042820C>T	ENST00000343932.4	+	2	804	c.741C>T	c.(739-741)aaC>aaT	p.N247N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	247					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACCTGCCTAACCCTGCCCTGC	0.562000													59	74					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104032305	104032305	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:104032305C>T	ENST00000374874.3	+	3	646	c.207C>T	c.(205-207)acC>acT	p.T69T	LPPR1_ENST00000395056.2_Silent_p.T69T	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		69						integral to membrane	catalytic activity										GCTTCATCACCCCTCTGGTGC	0.443000													16	21					0	0	1	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140767861	140767861	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:140767861C>T	ENST00000519479.1	+	1	410	c.410C>T	c.(409-411)tCc>tTc	p.S137F	PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAAAATTCCTTTGAGCTG	0.433000													27	18					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631904	9631904	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:9631904G>A	ENST00000570827.2	+	15	3110	c.2036G>A	c.(2035-2037)aGa>aAa	p.R679K	USP43_ENST00000570475.1_Missense_Mutation_p.R985K|USP43_ENST00000285199.6_Missense_Mutation_p.R990K			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	990					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						GAGCTAGACAGACCCCTGCAG	0.582000													16	37					0	0	1	0	0
HOXA2	3199	broad.mit.edu	37	7	27140961	27140961	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:27140961C>T	ENST00000222718.5	-	2	825	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	172						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						CTCCACCCTTCGGGGTCTGCA	0.522000													20	42					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237777719	237777719	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:237777719C>T	ENST00000366574.2	+	37	5608	c.5291C>T	c.(5290-5292)tCc>tTc	p.S1764F	RYR2_ENST00000542537.1_Missense_Mutation_p.S1748F|RYR2_ENST00000360064.6_Missense_Mutation_p.S1762F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1764	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			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)			ATGCAGTTTTCCTCCCCCAGT	0.502000													24	51					0	0	1	0	0
TIGD2	166815	broad.mit.edu	37	4	90034627	90034627	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:90034627C>T	ENST00000317005.2	+	1	660	c.502C>T	c.(502-504)Cta>Tta	p.L168L		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	168	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		aaaagagaatctacaaccaga	0.373000													16	36					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48312160	48312160	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:48312160C>T	ENST00000435803.1	+	17	2921	c.2897C>T	c.(2896-2898)tCt>tTt	p.S966F		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	966					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAAATTTATTCTTCATTTTAC	0.313000													28	32					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88658704	88658704	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:88658704G>A	ENST00000340700.5	-	5	1168	c.717C>T	c.(715-717)ttC>ttT	p.F239F	KCNK10_ENST00000319231.5_Silent_p.F244F|KCNK10_ENST00000312350.5_Silent_p.F244F	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	239					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CGGCCAAGATGAACAGGATGG	0.502000													50	82					0	0	1	0	0
SLC25A38	54977	broad.mit.edu	37	3	39433458	39433458	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:39433458T>G	ENST00000273158.4	+	5	948	c.571T>G	c.(571-573)Ttc>Gtc	p.F191V		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	191					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AGATGCGCCCTTCTCAGGAAT	0.502000													28	53					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90611780	90611780	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:90611780G>A	ENST00000268154.4	+	2	1662	c.1411G>A	c.(1411-1413)Gag>Aag	p.E471K		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ATGCGGCATGGAGTTCAGCCA	0.587000													72	110					0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10583433	10583433	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:10583433C>T	ENST00000304501.1	-	2	1060	c.982G>A	c.(982-984)Gat>Aat	p.D328N	SOX7_ENST00000553390.1_Missense_Mutation_p.D380N|SOX7_ENST00000554914.1_Missense_Mutation_p.D380N	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	328	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCATTGCGATCCATGTCCCCC	0.622000													31	31					0	0	1	0	0
NARF	26502	broad.mit.edu	37	17	80443419	80443419	+	Missense_Mutation	SNP	G	G	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:80443419G>T	ENST00000390006.4	+	10	1315	c.841G>T	c.(841-843)Gtg>Ttg	p.V281L	NARF_ENST00000345415.7_Missense_Mutation_p.V292L|NARF_ENST00000309794.10_Missense_Mutation_p.V340L|NARF_ENST00000457415.3_Missense_Mutation_p.V386L	NM_001038618.2	NP_001033707.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	340						lamin filament	lamin binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			CGGAGAGGTGGTGTTACGCTT	0.448000													47	78					2.76378e-25	2.90051e-25	1	1	0
ENPEP	2028	broad.mit.edu	37	4	111430879	111430879	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:111430879G>A	ENST00000265162.5	+	5	1452	c.1110G>A	c.(1108-1110)acG>acA	p.T370T		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	370					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACAGAGAAACGAACCTGCTTT	0.458000													29	44					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285935	99285935	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:99285935G>A	ENST00000375241.1	-	10	1470	c.1019C>T	c.(1018-1020)aCc>aTc	p.T340I	CDC14B_ENST00000463569.1_Missense_Mutation_p.T340I|CDC14B_ENST00000375236.1_Missense_Mutation_p.T340I|CDC14B_ENST00000375242.3_Missense_Mutation_p.T303I|CDC14B_ENST00000265659.2_Missense_Mutation_p.T340I|CDC14B_ENST00000375240.3_Missense_Mutation_p.T340I	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	340	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCACGCAATGGTCTCGGCTGC	0.517000													24	24					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61493301	61493301	+	Splice_Site	SNP	T	T	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:61493301T>G	ENST00000398571.2	-	42	5511	c.5433_splice	c.e42-1	p.E1812_splice		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1812					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCTCAAAAATTCCTGGGGAGT	0.368000													5	14					0	0	1	0	0
CDC14B	8555	broad.mit.edu	37	9	99285934	99285934	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:99285934G>A	ENST00000375241.1	-	10	1471	c.1020C>T	c.(1018-1020)acC>acT	p.T340T	CDC14B_ENST00000463569.1_Silent_p.T340T|CDC14B_ENST00000375236.1_Silent_p.T340T|CDC14B_ENST00000375242.3_Silent_p.T303T|CDC14B_ENST00000265659.2_Silent_p.T340T|CDC14B_ENST00000375240.3_Silent_p.T340T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	340	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CCCACGCAATGGTCTCGGCTG	0.517000													23	24					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48735443	48735443	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:48735443G>A	ENST00000285238.8	+	5	567	c.486_splice	c.e5-1	p.G163_splice	ABCC3_ENST00000427699.1_Splice_Site_p.G163_splice	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	163					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCCACCCAGGGTGAGATCTC	0.607000													60	91					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215843703	215843703	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:215843703G>A	ENST00000272895.7	-	32	5021	c.4802C>T	c.(4801-4803)tCa>tTa	p.S1601L	ABCA12_ENST00000389661.4_Missense_Mutation_p.S1283L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1601					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGGGAGATGTGATTGGATCAT	0.458000													31	39					0	0	1	0	0
ATG13	9776	broad.mit.edu	37	11	46671736	46671736	+	Silent	SNP	A	A	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:46671736A>G	ENST00000434074.1	+	6	1016	c.327A>G	c.(325-327)aaA>aaG	p.K109K	ATG13_ENST00000312040.4_Silent_p.K109K|ATG13_ENST00000359513.4_Silent_p.K109K|ATG13_ENST00000524625.1_Silent_p.K109K|ATG13_ENST00000451945.1_Silent_p.K109K|ATG13_ENST00000526508.1_Silent_p.K109K|ATG13_ENST00000530500.1_Silent_p.K30K|ATG13_ENST00000528494.1_Silent_p.K109K|ATG13_ENST00000529655.1_Silent_p.K109K	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	109					autophagic vacuole assembly	cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						GGTGTGATAAAGAAATCAAAG	0.428000													27	44					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48190835	48190835	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr18:48190835C>T	ENST00000400384.2	+	2	1543	c.507C>T	c.(505-507)ttC>ttT	p.F169F	MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000588540.1_Silent_p.F169F|MAPK4_ENST00000592595.1_Silent_p.F169F|MAPK4_ENST00000540640.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	169	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTGGGGATTTCGGGTTGGCAA	0.542000													60	59					0	0	1	0	0
CRYZL1	9946	broad.mit.edu	37	21	34997067	34997067	+	Splice_Site	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr21:34997067C>T	ENST00000361534.2	-	4	278		c.e4-1		CRYZL1_ENST00000290244.5_Splice_Site|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381554.3_Splice_Site|CRYZL1_ENST00000381540.3_Splice_Site|CRYZL1_ENST00000445393.1_Splice_Site|CRYZL1_ENST00000413017.2_Splice_Site			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1						quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAAGATCTTCCTAGAACCAAA	0.299000													18	39					0	0	1	0	0
PHF21B	112885	broad.mit.edu	37	22	45309846	45309846	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:45309846G>A	ENST00000313237.5	-	5	837	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000404079.2_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	229							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647000													37	72					0	0	1	0	0
INPPL1	3636	broad.mit.edu	37	11	71944008	71944008	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:71944008C>T	ENST00000541756.1	+	16	2145	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	INPPL1_ENST00000298229.2_Silent_p.F647F|INPPL1_ENST00000538751.1_Silent_p.F405F			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	647					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACAAGGTCTTCCTTCGATTCA	0.582000													17	28					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93826736	93826736	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:93826736G>A	ENST00000315765.9	+	13	2372	c.2364G>A	c.(2362-2364)agG>agA	p.R788R		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	788	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGGTTTACAGGGAATATACGG	0.443000													58	80					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179515489	179515489	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:179515489G>A	ENST00000589042.1	-	209	39922	c.39698C>T	c.(39697-39699)cCt>cTt	p.P13233L	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10799L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11726L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11588	Ig-like 88.						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)			TTCTGGGGGAGGAGACTCCGC	0.408000													3	8					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21028385	21028385	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:21028385G>A	ENST00000381545.3	+	9	1163	c.944G>A	c.(943-945)gGa>gAa	p.G315E	LST3_ENST00000540229.1_Missense_Mutation_p.G315E|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G315E|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G315E|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	315					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ACCAACCAAGGAAAAAATGTT	0.299000													5	42					0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131498853	131498853	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr12:131498853C>T	ENST00000261654.5	+	13	2000	c.1441C>T	c.(1441-1443)Cca>Tca	p.P481S	GPR133_ENST00000376682.4_Missense_Mutation_p.P167S|GPR133_ENST00000535015.1_Missense_Mutation_p.P513S	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	481					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GTCGGGCTCTCCACTCATTAC	0.592000													30	40					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57506237	57506237	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:57506237C>T	ENST00000278422.4	+	5	555	c.543C>T	c.(541-543)tcC>tcT	p.S181S	TMX2_ENST00000378312.4_Silent_p.S143S|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	181	Thioredoxin.				cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						CTGACCTCTCCCTTAAGTGAG	0.458000													48	77					0	0	1	0	0
TMEM182	130827	broad.mit.edu	37	2	103378700	103378700	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:103378700C>T	ENST00000412401.2	+	1	229	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TMEM182_ENST00000409173.1_Intron|TMEM182_ENST00000409528.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182	8						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TCGCTATCTTCTTTGGAGCTC	0.373000													16	34					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33673187	33673187	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:33673187G>A	ENST00000354992.2	-	15	2503	c.1932C>T	c.(1930-1932)acC>acT	p.T644T	LARGE_ENST00000397394.2_Silent_p.T644T|LARGE_ENST00000452586.2_Silent_p.T443T|LARGE_ENST00000437602.2_Silent_p.T595T|LARGE_ENST00000337431.2_Silent_p.T592T|LARGE_ENST00000402320.1_Silent_p.T592T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	644					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCGTGGTGGCGGTCCGCCACT	0.577000													19	42					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90101197	90101197	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:90101197G>A	ENST00000405460.2	+	72	14854	c.14758G>A	c.(14758-14760)Gtt>Att	p.V4920I	GPR98_ENST00000425867.2_Missense_Mutation_p.V581I	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4920					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)		AGCTCTCTCGGTTGCCTGGAC	0.458000													27	31					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													3	46					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163138977	163138977	+	Missense_Mutation	SNP	T	T	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:163138977T>G	ENST00000263642.2	-	6	1600	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	402	Helicase ATP-binding.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CTTGACAACTTCTGGAAATGA	0.378000													23	32					0	0	1	0	0
CLASRP	11129	broad.mit.edu	37	19	45556103	45556103	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:45556103C>T	ENST00000544944.2	+	3	944	c.252C>T	c.(250-252)gcC>gcT	p.A84A	CLASRP_ENST00000221455.3_Silent_p.A84A|CLASRP_ENST00000391953.4_Intron			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	84					mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						ATGTCCGTGCCCACCTGGACC	0.607000													20	46					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228003906	228003906	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:228003906C>T	ENST00000366757.3	+	2	288	c.264C>T	c.(262-264)tcC>tcT	p.S88S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	88	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GCGGCGGCTCCATCCTCAATG	0.667000													39	83					0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63638402	63638402	+	Silent	SNP	C	C	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:63638402C>A	ENST00000496807.1	+	1	29	c.27C>A	c.(25-27)ctC>ctA	p.L9L	SNTN_ENST00000343837.3_Silent_p.L13L			A6NMZ2	SNTAN_HUMAN	sentan, cilia apical structure protein	13						cilium	calcium ion binding			endometrium(2)|ovary(1)	3						ACAAATCTCTCCACTTGGAAG	0.488000													18	31					8.34094e-07	8.57183e-07	1	1	0
POLR2A	5430	broad.mit.edu	37	17	7415642	7415642	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:7415642C>A	ENST00000322644.6	+	26	4870	c.4471C>A	c.(4471-4473)Ccc>Acc	p.P1491T		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1491					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACCAATATCCCCGGCCTGGG	0.647000													19	29					2.39187e-15	2.50136e-15	1	1	0
RC3H2	54542	broad.mit.edu	37	9	125618110	125618110	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:125618110G>A	ENST00000373670.1	-	13	3102	c.2502C>T	c.(2500-2502)tcC>tcT	p.S834S	RC3H2_ENST00000357244.2_Silent_p.S834S|RC3H2_ENST00000423239.2_Silent_p.S834S			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	834						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GAGAATAATGGGAAAGATGAT	0.358000													8	21					0	0	1	0	0
LIMK1	3984	broad.mit.edu	37	7	73513553	73513553	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:73513553C>T	ENST00000418310.1	+	5	785	c.683C>T	c.(682-684)aCc>aTc	p.T228I	LIMK1_ENST00000538333.3_Missense_Mutation_p.T164I|LIMK1_ENST00000336180.2_Missense_Mutation_p.T198I|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	198	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CACTCACACACCGTCCGCGTC	0.662000													122	93					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319270	21319270	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:21319270G>A	ENST00000583088.1	+	3	1511	c.616G>A	c.(616-618)Gac>Aac	p.D206N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D206N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGCCCTGCGTGACGGCAAGCT	0.627000										Prostate(3;0.18)			8	52					0	0	1	0	0
DENND4C	55667	broad.mit.edu	37	9	19305386	19305386	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:19305386C>T	ENST00000380432.2	+	6	673	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	DENND4C_ENST00000307015.9_5'UTR|DENND4C_ENST00000434457.2_Missense_Mutation_p.P450S|DENND4C_ENST00000602925.1_Missense_Mutation_p.P450S	NM_017925.4	NP_060395.5	Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	214	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						CCCATATATTCCCCTTTGTCC	0.348000													47	80					0	0	1	0	0
INTU	27152	broad.mit.edu	37	4	128595284	128595284	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:128595284C>T	ENST00000335251.5	+	6	1200	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	INTU_ENST00000296461.5_Missense_Mutation_p.S366F	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein	366										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTAGTTCATCCCTCCTTTTA	0.299000													7	26					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900474	76900474	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:76900474C>T	ENST00000409709.3	+	28	3861	c.3589C>T	c.(3589-3591)Ctc>Ttc	p.L1197F	MYO7A_ENST00000458637.2_Missense_Mutation_p.L1197F|MYO7A_ENST00000409619.2_Missense_Mutation_p.L1186F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1197	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCGTGTCTCTCTGCGTGGG	0.622000													40	60					0	0	1	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396012	101396012	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chrX:101396012C>T	ENST00000372774.3	-	3	541	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	TCEAL6_ENST00000372773.1_Missense_Mutation_p.E98K	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E98K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GGGCGCTTTTCGGCGGCCCGC	0.612000													73	26					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702171	181702171	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:181702171G>A	ENST00000526775.1	+	19	3056		c.e19+1		CACNA1E_ENST00000360108.3_Splice_Site|CACNA1E_ENST00000367570.1_Splice_Site|CACNA1E_ENST00000367573.2_Splice_Site|CACNA1E_ENST00000367567.4_Splice_Site|CACNA1E_ENST00000358338.5_Splice_Site|CACNA1E_ENST00000357570.5_Splice_Site	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit						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						ATTTAAGGAGGTGAGTGAGTC	0.517000													7	15					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171693380	171693380	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:171693380G>A	ENST00000358196.3	+	6	1175	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	GAD1_ENST00000375272.1_Missense_Mutation_p.A209T|GAD1_ENST00000344257.5_Missense_Mutation_p.A209T|GAD1_ENST00000429023.1_3'UTR	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	209					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACATCAACGGCCAATACCAA	0.403000													14	13					0	0	1	0	0
GPR15	2838	broad.mit.edu	37	3	98251870	98251870	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:98251870G>A	ENST00000284311.3	+	1	1128	c.993G>A	c.(991-993)gaG>gaA	p.E331E		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	331						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTAGCACTGAGACATCAGATA	0.478000													24	49					0	0	1	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													4	66					0	0	1	0	0
IL36G	56300	broad.mit.edu	37	2	113736237	113736237	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:113736237G>A	ENST00000259205.4	+	2	91	c.22G>A	c.(22-24)Gct>Act	p.A8T	IL36G_ENST00000376489.2_Missense_Mutation_p.A8T	NM_019618.2	NP_062564.1	Q9NZH8	IL36G_HUMAN	interleukin 36, gamma	8					cell-cell signaling	extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						TCCAGGAGACGCTGATGGTGG	0.517000													25	44					0	0	1	0	0
MEX3D	399664	broad.mit.edu	37	19	1555372	1555372	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:1555372G>A	ENST00000388824.6	-	3	1958	c.1959C>T	c.(1957-1959)acC>acT	p.T653T	MEX3D_ENST00000402693.4_3'UTR	NM_001174118.1	NP_001167589.1	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	0					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCTGCGGGGTCTCCGTCT	0.617000													23	24					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74034422	74034422	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:74034422G>A	ENST00000296805.3	-	13	1582	c.1125C>T	c.(1123-1125)ctC>ctT	p.L375L	GFM2_ENST00000509430.1_Silent_p.L375L|GFM2_ENST00000427854.2_Silent_p.L375L|GFM2_ENST00000345239.2_Intron	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	375					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCTTGTCATGGAGAACTTTAA	0.388000													34	41					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47870521	47870521	+	Missense_Mutation	SNP	C	C	G			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:47870521C>G	ENST00000446256.2	+	7	718	c.146C>G	c.(145-147)aCa>aGa	p.T49R	DHX30_ENST00000445061.1_Missense_Mutation_p.T88R|DHX30_ENST00000457607.1_Missense_Mutation_p.T116R|DHX30_ENST00000348968.4_Missense_Mutation_p.T60R	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	88						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGAAAGTCACACTGCACATA	0.502000													6	7					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071428	73071428	+	RNA	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chrX:73071428C>T	ENST00000429829.1	-	0	1160					NR_001564.2																						TCCTAACCTTCCATTTTTAAC	0.433000													37	7					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134253852	134253852	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:134253852G>A	ENST00000524765.1	-	3	4887	c.343C>T	c.(343-345)Ctc>Ttc	p.L115F	B3GAT1_ENST00000392580.1_Missense_Mutation_p.L115F|B3GAT1_ENST00000312527.4_Missense_Mutation_p.L115F|B3GAT1_ENST00000537389.1_Missense_Mutation_p.L128F			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	115					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGCCAGTGGAGGTTGGGCACG	0.706000													4	14					0	0	1	0	0
IGSF21	84966	broad.mit.edu	37	1	18702815	18702815	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr1:18702815G>A	ENST00000251296.1	+	7	1410	c.1027G>A	c.(1027-1029)Gga>Aga	p.G343R	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	343						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGCCCCCAAAGGACCCAAAAT	0.527000													57	108					0	0	1	0	0
COL7A1	1294	broad.mit.edu	37	3	48618070	48618070	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr3:48618070G>A	ENST00000328333.8	-	54	5103	c.4996C>T	c.(4996-4998)Cgg>Tgg	p.R1666W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1666W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1666	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAGGCCCCCGAACTCCAGGT	0.587000													15	19					0	0	1	0	0
POTED	317754	broad.mit.edu	37	21	14983023	14983023	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr21:14983023C>T	ENST00000299443.5	+	1	526	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	158						plasma membrane		p.I158I(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AGGATCTCATCGTCATGCTCA	0.567000													30	66					0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27294993	27294993	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:27294993G>A	ENST00000397501.1	+	22	2315	c.1507G>A	c.(1507-1509)Gaa>Aaa	p.E503K	PTK2B_ENST00000397497.4_Missense_Mutation_p.E249K|PTK2B_ENST00000420218.2_Missense_Mutation_p.E503K|PTK2B_ENST00000544172.1_Missense_Mutation_p.E503K|PTK2B_ENST00000517339.1_Missense_Mutation_p.E503K|PTK2B_ENST00000338238.4_Missense_Mutation_p.E503K|PTK2B_ENST00000346049.5_Missense_Mutation_p.E503K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	503	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GATCATCATGGAATTGTATCC	0.572000													41	40					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509481	71509481	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:71509481C>T	ENST00000396073.3	+	9	2619	c.2338C>T	c.(2338-2340)Ccg>Tcg	p.P780S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	780					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGAAAGAAGGCCGTATTTTAA	0.468000													25	50					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118985069	118985069	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:118985069C>T	ENST00000336702.3	+	13	2265	c.1906C>T	c.(1906-1908)Cac>Tac	p.H636Y	C2CD2L_ENST00000528586.1_Missense_Mutation_p.H383Y	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	635						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTCAAGGATCACAAAGGTAG	0.557000													32	59					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74640916	74640916	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr16:74640916C>A	ENST00000422840.2	-	1	76	c.77G>T	c.(76-78)gGg>gTg	p.G26V	GLG1_ENST00000205061.5_Missense_Mutation_p.G26V|GLG1_ENST00000447066.2_Missense_Mutation_p.G26V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	26						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTCTCGGCCCCGGCCGCGAA	0.711000													9	2					0.000274275	0.000278972	1	1	0
ASPHD2	57168	broad.mit.edu	37	22	26829836	26829836	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:26829836C>T	ENST00000215906.5	+	2	693	c.255C>T	c.(253-255)ccC>ccT	p.P85P		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	85					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						AGCCCCGGCCCTACGTCTCCG	0.642000													28	52					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123901179	123901179	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:123901179C>T	ENST00000431524.1	+	1	883	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCTTCTCAACCCTGTTGTGTA	0.493000													25	55					0	0	1	0	0
C6orf211	79624	broad.mit.edu	37	6	151773704	151773704	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:151773704C>T	ENST00000367294.3	+	1	283	c.24C>T	c.(22-24)ctC>ctT	p.L8L	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	8							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		CGGCGTCTCTCTCAGGACAGG	0.652000													24	22					0	0	1	0	0
PALM2	114299	broad.mit.edu	37	9	112705363	112705363	+	Silent	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:112705363C>T	ENST00000448454.2	+	8	900	c.900C>T	c.(898-900)agC>agT	p.S300S	PALM2_ENST00000374531.2_Silent_p.S266S|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000483909.1_Silent_p.S264S|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Silent_p.S298S|PALM2-AKAP2_ENST00000302798.7_Intron					paralemmin 2									p.S266S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AAGCCCCCAGCGCTGCAGGGC	0.512000													26	34					0	0	1	0	0
TNPO2	30000	broad.mit.edu	37	19	12830100	12830100	+	Silent	SNP	G	G	A	rs138981862	by1000genomes	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:12830100G>A	ENST00000425528.1	-	4	507	c.150C>T	c.(148-150)ttC>ttT	p.F50F	TNPO2_ENST00000441499.1_Silent_p.F50F|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Silent_p.F50F|TNPO2_ENST00000592287.1_Silent_p.F50F|TNPO2_ENST00000588216.1_Silent_p.F50F|TNPO2_ENST00000356861.5_Silent_p.F50F			O14787	TNPO2_HUMAN	transportin 2	50	Importin N-terminal.				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTCAGGACGAAAATCAGGT	0.552000													16	27					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4712641	4712641	+	Missense_Mutation	SNP	C	C	T	rs138074240	byFrequency	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr17:4712641C>T	ENST00000263088.6	+	6	669	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	PLD2_ENST00000572940.1_Missense_Mutation_p.R180C	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	180	PX.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GTCTTTCTATCGCAACTACCA	0.537000													36	56					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577900	33577900	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr20:33577900G>A	ENST00000262873.7	+	19	2069	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	617	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity	p.Q659H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGAAGTCACAGAATAGGCTCC	0.547000													45	77					0	0	1	0	0
MYO10	4651	broad.mit.edu	37	5	16681528	16681528	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr5:16681528G>A	ENST00000513610.1	-	32	4728	c.4274C>T	c.(4273-4275)tCc>tTc	p.S1425F	MYO10_ENST00000505695.1_Missense_Mutation_p.S764F|MYO10_ENST00000515803.1_Missense_Mutation_p.S764F|MYO10_ENST00000427430.2_Missense_Mutation_p.S782F|MYO10_ENST00000274203.9_Missense_Mutation_p.S782F	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1425	PH 2.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GTAATCCAGGGAATTGTGGGT	0.468000													4	106					0	0	1	0	0
ZNF658	26149	broad.mit.edu	37	9	40774426	40774426	+	Silent	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr9:40774426G>A	ENST00000602553.1	-	5	1143	c.849C>T	c.(847-849)acC>acT	p.T283T	ZNF658_ENST00000377626.3_Silent_p.T283T|ZNF658_ENST00000441795.1_Silent_p.T281T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCAACAGCGGTGGTTTTGT	0.383000													22	73					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20388834	20388834	+	Silent	SNP	C	C	T	rs144511665	byFrequency	TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr14:20388834C>T	ENST00000315915.4	+	1	94	c.69C>T	c.(67-69)ctC>ctT	p.L23L		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTCAAAAACTCCAGCTTTTCT	0.403000													15	35					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50555448	50555448	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:50555448C>T	ENST00000267845.3	-	2	590	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	HDC_ENST00000543581.1_Missense_Mutation_p.R63Q	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	63					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CATGATGATTCGTTCAATGTC	0.597000													84	126					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648708	169648708	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr6:169648708G>A	ENST00000366787.3	-	4	662	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	138	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCCTCCAGGGAGACCACATG	0.647000													25	18					0	0	1	0	0
KLHL2	11275	broad.mit.edu	37	4	166234389	166234389	+	Splice_Site	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:166234389G>A	ENST00000226725.6	+	12	1598		c.e12-1		KLHL2_ENST00000421009.2_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTTATGTGTAGGTTTGCTCTA	0.323000													11	16					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50318533	50318533	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:50318533G>A	ENST00000404971.1	-	20	5105	c.3766C>T	c.(3766-3768)Cgt>Tgt	p.R1256C	NRXN1_ENST00000401710.1_Missense_Mutation_p.R234C|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208C|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216C|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCGTGAAACGAACTACATGG	0.473000													52	101					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34023798	34023798	+	Missense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr15:34023798G>A	ENST00000389232.4	+	48	7397	c.7327G>A	c.(7327-7329)Gat>Aat	p.D2443N	RYR3_ENST00000415757.3_Missense_Mutation_p.D2443N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2443	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTCTCTGATTGATTCCACACT	0.473000													20	24					0	0	1	0	0
NANOS3	342977	broad.mit.edu	37	19	13988159	13988159	+	Missense_Mutation	SNP	C	C	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:13988159C>A	ENST00000397555.2	+	1	97	c.97C>A	c.(97-99)Cag>Aag	p.Q33K	NANOS3_ENST00000339133.5_Missense_Mutation_p.Q33K|NANOS3_ENST00000591161.1_Intron|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	33					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GCTGAGCCCCCAGCCAGAGCC	0.627000													9	135					0.000274275	0.000278972	1	1	0
POLR1A	25885	broad.mit.edu	37	2	86305077	86305077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr2:86305077G>A	ENST00000263857.6	-	11	1663	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R429*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	429					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						ATGTGTTTTCGGAACAGGCCT	0.423000													52	79					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94913509	94913509	+	Missense_Mutation	SNP	C	C	T			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr7:94913509C>T	ENST00000289495.5	+	15	3572	c.3356C>T	c.(3355-3357)tCa>tTa	p.S1119L	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S1159L|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S1137L|PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S1137L	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	913						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACTCTAATTTCAGATAAAAAG	0.438000										HNSCC(28;0.073)			19	43					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16025117	16025117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr19:16025117G>A	ENST00000326742.7	-	10	1331	c.1330C>T	c.(1330-1332)Cag>Tag	p.Q444*	CYP4F11_ENST00000402119.3_Silent_p.P465P|CYP4F11_ENST00000248041.7_Silent_p.P465P			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	0					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						ATCCTTACCTGGGCCCTGCCG	0.557000													105	163					0	0	1	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52729666	52729667	+	Frame_Shift_Ins	INS	-	-	TAAGCTG			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr4:52729666_52729667insTAAGCTG	ENST00000334635.5	+	2	269_270	c.89_90insTAAGCTG	c.(88-90)aaafs	p.K30fs	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000381441.3_Frame_Shift_Ins_p.K30fs|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000451288.2_Frame_Shift_Ins_p.K74fs	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	30										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			CACACCCTTAATAAGCTGGTAA	0.302													22	86	---	---	---	---					
IKBKB	3551	broad.mit.edu	37	8	42183608	42183610	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:42183608_42183610delAAG	ENST00000520810.1	+	20	2293_2295	c.2107_2109delAAG	c.(2107-2109)del	p.K704del	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_In_Frame_Del_p.K702del|IKBKB_ENST00000379708.3_In_Frame_Del_p.K481del|IKBKB_ENST00000416505.2_In_Frame_Del_p.K645del	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	704					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGAGCCAGCCAAGAAGAGGTAGG	0.567													24	58	---	---	---	---					
ADHFE1	137872	broad.mit.edu	37	8	67380580	67380581	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:67380580_67380581delTG	ENST00000396623.3	+	14	1428_1429	c.1397_1398delTG	c.(1396-1398)cfs	p.L466fs	ADHFE1_ENST00000415254.1_Frame_Shift_Del_p.L418fs|ADHFE1_ENST00000496501.1_3'UTR|C8orf46_ENST00000482608.2_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	466					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TCAATGAAACTGTATTAATTGT	0.431													11	8	---	---	---	---					
KCNB2	9312	broad.mit.edu	37	8	73849833	73849833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr8:73849833delC	ENST00000523207.1	+	3	2831	c.2243delC	c.(2242-2244)acfs	p.T748fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	748					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCGCTCACTACCCCGCAGCAC	0.567													69	290	---	---	---	---					
B4GALNT4	338707	broad.mit.edu	37	11	377032	377033	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr11:377032_377033delCC	ENST00000329962.6	+	14	1909_1910	c.1909_1910delCC	c.(1909-1911)gfs	p.P637fs		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	637						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGTCCGGGCCGCAGCTGCCC	0.738													2	4	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671273	25671273	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr13:25671273delG	ENST00000281589.3	+	1	974	c.937delG	c.(937-939)cgfs	p.A313fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	313	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCTCCGGAAAGCGTTTTCTCC	0.408													7	269	---	---	---	---					
PCNT	5116	broad.mit.edu	37	21	47766896	47766897	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr21:47766896_47766897delGT	ENST00000359568.5	+	5	1067_1068	c.960_961delGT	c.(958-963)aggtfs	p.RC320fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	320	Glu-rich.				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)					TGGTGCTCAGGTGTGGACAGGA	0.658													2	4	---	---	---	---					
SPECC1L	23384	broad.mit.edu	37	22	24765203	24765204	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BF-A5ER-01A-12D-A27K-08	TCGA-BF-A5ER-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21389e82-0273-4320-a92d-b0709ee396e8	b269246a-ff74-42f7-a08f-c9b9b1cb50f5	g.chr22:24765203_24765204delCT	ENST00000314328.9	+	14	3287_3288	c.3002_3003delCT	c.(3001-3003)cfs	p.P1001fs	SPECC1L_ENST00000437398.1_Frame_Shift_Del_p.P1001fs|KB-1896H10.1_ENST00000358654.2_3'UTR|SPECC1L_ENST00000541492.1_Frame_Shift_Del_p.P1001fs	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	1001					cell cycle|cell division					breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						AGGAAAGACCCTCTCTCAGCAT	0.371													28	51	---	---	---	---