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
EFEMP1	2202	broad.mit.edu	37	2	56108806	56108806	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:56108806C>T	ENST00000394555.2	-	5	1016	c.581G>A	c.(580-582)cGg>cAg	p.R194Q	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194Q|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194Q|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136Q	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	194	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAAGGATCCCCGTAAATTGAT	0.507000													23	50					0	0	0.00188189	0	0
ASPM	259266	broad.mit.edu	37	1	197094013	197094013	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:197094013G>A	ENST00000367409.4	-	12	3411	c.3155C>T	c.(3154-3156)gCg>gTg	p.A1052V	ASPM_ENST00000367408.1_Missense_Mutation_p.A302V|ASPM_ENST00000294732.7_Missense_Mutation_p.A1052V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1052	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.A1052V(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AAAAGCAAACGCTATTTTCCA	0.279000													46	174					0	0	0.000781405	0	0
GLOD4	51031	broad.mit.edu	37	17	680169	680169	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:680169A>G	ENST00000301329.6	-	3	285	c.200T>C	c.(199-201)tTt>tCt	p.F67S	GLOD4_ENST00000301328.5_Missense_Mutation_p.F82S|GLOD4_ENST00000536578.1_Missense_Mutation_p.F58S	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	82						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TTCTGCGACAAAATGATCATC	0.413000													9	45					0	0	0.00136819	0	0
TRMT13	54482	broad.mit.edu	37	1	100613462	100613462	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:100613462G>A	ENST00000370141.2	+	10	836	c.830G>A	c.(829-831)cGa>cAa	p.R277Q		NM_019083.2	NP_061956.2			tRNA methyltransferase 13 homolog (S. cerevisiae)																		CTTGCATTACGATGTTTGGTT	0.328000													12	41					0	0	0.000219431	0	0
ATG9A	79065	broad.mit.edu	37	2	220087135	220087135	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:220087135G>A	ENST00000409618.1	-	12	2325	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	ATG9A_ENST00000409422.1_Missense_Mutation_p.S568F|ATG9A_ENST00000396761.2_Missense_Mutation_p.S629F|ATG9A_ENST00000361242.4_Missense_Mutation_p.S629F			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	629					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCCGGCAGGATGAGCCAGC	0.617000													8	56					0	0	0.000673444	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413718	26413718	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:26413718C>T	ENST00000289361.6	+	10	1708	c.1340C>T	c.(1339-1341)cCc>cTc	p.P447L	BTN3A1_ENST00000414912.2_Missense_Mutation_p.P395L	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	447	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTAACTGAGCCCAGAACCAAC	0.473000													43	65					0	0	0.000589545	0	0
OR5H1	26341	broad.mit.edu	37	3	97852270	97852270	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:97852270C>T	ENST00000354565.2	+	1	729	c.729C>T	c.(727-729)gcC>gcT	p.A243A	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CCTGTGGAGCCCATCTCTTCT	0.413000													31	57					0	0	0.00178596	0	0
SOX30	11063	broad.mit.edu	37	5	157065567	157065567	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:157065567G>A	ENST00000265007.6	-	4	1892	c.1551C>T	c.(1549-1551)tcC>tcT	p.S517S	SOX30_ENST00000519442.1_Silent_p.S212S|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	517					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGTCTGTTTGGGAAGGCCCAG	0.537000													4	15					0	0	0.00024832	0	0
OVCH1	341350	broad.mit.edu	37	12	29640716	29640716	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:29640716G>A	ENST00000318184.5	-	7	801	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	268	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tttcttaCGGGAACTGAACCT	0.473000													9	2					0	0	0.000442599	0	0
TNRC6B	23112	broad.mit.edu	37	22	40718916	40718916	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:40718916C>G	ENST00000454349.2	+	23	5384	c.5173C>G	c.(5173-5175)Cgc>Ggc	p.R1725G	TNRC6B_ENST00000301923.9_Missense_Mutation_p.R921G|TNRC6B_ENST00000402203.1_Missense_Mutation_p.R921G|TNRC6B_ENST00000335727.8_Missense_Mutation_p.R1615G	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	1725					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						TGAAGTCAGCCGCTTTCTGGC	0.567000													6	11					0	0	8.12818e-05	0	0
IL1B	3553	broad.mit.edu	37	2	113590272	113590272	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:113590272G>A	ENST00000263341.2	-	5	643	c.433C>T	c.(433-435)Ctc>Ttc	p.L145F	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	145					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TGGAGGTGGAGAGCTTTCAGT	0.498000													45	61					0	0	0.000781405	0	0
GCSAML	148823	broad.mit.edu	37	1	247712418	247712418	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:247712418C>T	ENST00000366490.3	+	4	445	c.287C>T	c.(286-288)tCc>tTc	p.S96F	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_3'UTR|GCSAML_ENST00000366488.4_5'UTR|GCSAML_ENST00000366491.2_5'UTR|GCSAML_ENST00000366489.1_5'UTR|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000527084.1_Intron					germinal center-associated, signaling and motility-like																		CATGCATTTTCCTCTTGGTGC	0.527000													7	26					0	0	8.12818e-05	0	0
OSMR	9180	broad.mit.edu	37	5	38921839	38921839	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:38921839G>A	ENST00000274276.3	+	12	2110	c.1708G>A	c.(1708-1710)Ggt>Agt	p.G570S		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	570	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GGATGTGCTCGGTGATTTCCA	0.473000													10	55					0	0	0.000673444	0	0
EPHA8	2046	broad.mit.edu	37	1	22923821	22923821	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:22923821C>T	ENST00000166244.3	+	10	1854	c.1782C>T	c.(1780-1782)ttC>ttT	p.F594F		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	594						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACCTGTCTTCCTGCCTCTGC	0.657000													12	19					0	0	0.00136819	0	0
MECR	51102	broad.mit.edu	37	1	29533276	29533276	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:29533276G>A	ENST00000373791.3	-	4	692	c.320C>T	c.(319-321)cCa>cTa	p.P107L	MECR_ENST00000263702.6_Missense_Mutation_p.P183L|MECR_ENST00000489248.1_5'UTR	NM_001024732.1|NM_016011.2	NP_001019903.1|NP_057095.2	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	183					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		GTTCCTACCTGGCTGCAGTTG	0.587000													18	37					0	0	0.000958276	0	0
ZNF792	126375	broad.mit.edu	37	19	35449270	35449270	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35449270G>A	ENST00000404801.1	-	4	1875	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	ZNF792_ENST00000605484.1_Missense_Mutation_p.R430W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGAAGTCTCCGATGGCTATTG	0.493000													17	31					0	0	0.000958276	0	0
CD1A	909	broad.mit.edu	37	1	158225031	158225031	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158225031G>A	ENST00000289429.5	+	2	749	c.216G>A	c.(214-216)agG>agA	p.R72R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	72					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CCTGGTCCAGGGGAAACTTCA	0.488000													27	68					0	0	0.000409698	0	0
MYO1E	4643	broad.mit.edu	37	15	59548558	59548558	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:59548558G>A	ENST00000288235.4	-	4	656	c.257C>T	c.(256-258)cCa>cTa	p.P86L	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	86	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		ATAGATATGTGGTGGGTTTTC	0.313000													17	11					0	0	0.00121646	0	0
ABCA4	24	broad.mit.edu	37	1	94480120	94480120	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:94480120C>T	ENST00000370225.3	-	38	5525	c.5439G>A	c.(5437-5439)ttG>ttA	p.L1813L	ABCA4_ENST00000536513.1_Silent_p.L83L	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1813					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAATAATTCCAAGATGAAGG	0.438000													77	88					0	0	0.000781405	0	0
SOX18	54345	broad.mit.edu	37	20	62680639	62680639	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:62680639G>A	ENST00000340356.7	-	1	355	c.231C>T	c.(229-231)cgC>cgT	p.R77R		NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	77					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCCGCCTGGCGTTCCCCGC	0.771000													5	10					0	0	0.000602214	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754493	31754493	+	RNA	SNP	G	G	A	rs61748126		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:31754493G>A	ENST00000405650.1	-	0	747				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	TCTCACCGAGGAAATTGGCTC	0.468000													7	22					0	0	0.000274275	0	0
BPIFA2	140683	broad.mit.edu	37	20	31761933	31761933	+	Silent	SNP	C	C	T	rs149183452		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:31761933C>T	ENST00000253362.2	+	4	497	c.351C>T	c.(349-351)atC>atT	p.I117I	BPIFA2_ENST00000354932.5_Silent_p.I117I			Q96DR5	SPLC2_HUMAN	BPI fold containing family A, member 2	117						extracellular region	lipid binding										CTGAACCGATCGATGATGGCA	0.512000													9	33					0	0	0.000673444	0	0
GABRB2	2561	broad.mit.edu	37	5	160758087	160758087	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:160758087C>T	ENST00000274547.2	-	9	1097	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GABRB2_ENST00000393959.1_Missense_Mutation_p.E294K|GABRB2_ENST00000353437.6_Missense_Mutation_p.E294K|GABRB2_ENST00000517547.1_Missense_Mutation_p.E134K|GABRB2_ENST00000517901.1_Missense_Mutation_p.E231K|GABRB2_ENST00000520240.1_Missense_Mutation_p.E294K	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	294					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGAGAGTTTCCCGGAGGTGG	0.433000													57	80					0	0	0.000781405	0	0
KCND3	3752	broad.mit.edu	37	1	112524806	112524806	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:112524806C>T	ENST00000369697.1	-	1	612	c.543G>A	c.(541-543)ctG>ctA	p.L181L	KCND3_ENST00000302127.4_Silent_p.L181L|KCND3_ENST00000315987.2_Silent_p.L181L			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	181						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGACCAGGGCCAGCGTGCTGG	0.632000													10	13					0	0	0.000442599	0	0
MCTP2	55784	broad.mit.edu	37	15	95013671	95013671	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:95013671G>A	ENST00000357742.4	+	20	2470	c.2470_splice	c.e20+1	p.G824_splice	MCTP2_ENST00000451018.3_Splice_Site_p.G769_splice	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	824					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAATCTGGGGTAAGTTTGG	0.408000													34	32					0	0	0.00058488	0	0
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308000													14	66					0	0	0.000422831	0	0
NEB	4703	broad.mit.edu	37	2	152422239	152422239	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:152422239C>T	ENST00000427231.2	-	115	18454	c.18252G>A	c.(18250-18252)atG>atA	p.M6084I	NEB_ENST00000409198.1_Missense_Mutation_p.M4383I|NEB_ENST00000603639.1_Missense_Mutation_p.M6084I|NEB_ENST00000397345.3_Missense_Mutation_p.M6084I|NEB_ENST00000172853.10_Missense_Mutation_p.M4383I|NEB_ENST00000604864.1_Missense_Mutation_p.M6084I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6078					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTGACTCATCATTTCCTGGT	0.498000													5	7					0	0	0.00116845	0	0
FAM83C	128876	broad.mit.edu	37	20	33875213	33875213	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:33875213G>A	ENST00000374408.3	-	4	1465	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	457										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GGGGCACCCCGATGGAACTGG	0.647000													5	11					0	0	0.00116845	0	0
COL28A1	340267	broad.mit.edu	37	7	7472319	7472319	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:7472319G>A	ENST00000399429.3	-	24	2013	c.1873C>T	c.(1873-1875)Cct>Tct	p.P625S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	625					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCCCCGAGGGCCTTGGACA	0.473000													16	32					0	0	0.000958276	0	0
BLNK	29760	broad.mit.edu	37	10	97987287	97987287	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:97987287G>A	ENST00000224337.5	-	5	381	c.240C>T	c.(238-240)gaC>gaT	p.D80D	BLNK_ENST00000371176.2_Silent_p.D80D|BLNK_ENST00000427367.2_Silent_p.D80D|BLNK_ENST00000413476.2_Silent_p.D80D	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	80					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACATCTCTGAGTCCGAGTGCT	0.597000													18	51					0	0	0.000958276	0	0
SLC15A1	6564	broad.mit.edu	37	13	99354778	99354778	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:99354778C>T	ENST00000376503.5	-	18	1477	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	474					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TAAGACCATCCTTTACCTGAG	0.289000													18	92					0	0	0.00047179	0	0
SRM	6723	broad.mit.edu	37	1	11115859	11115859	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:11115859G>A	ENST00000376957.2	-	6	824	c.744C>T	c.(742-744)ttC>ttT	p.F248F		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	248					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	TGCACAGCATGAAGCCGATCT	0.637000													4	3					0	0	0.00024832	0	0
NOTCH2	4853	broad.mit.edu	37	1	120466558	120466558	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:120466558C>T	ENST00000256646.2	-	26	4780	c.4561G>A	c.(4561-4563)Ggg>Agg	p.G1521R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1521	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTTGCACCCCTGGTCACAG	0.512000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				87	130					0	0	0.000781405	0	0
FBXW9	84261	broad.mit.edu	37	19	12807335	12807335	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:12807335C>T	ENST00000380339.3	-	1	97	c.61G>A	c.(61-63)Gag>Aag	p.E21K	FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.E21K|FBXW9_ENST00000587955.1_Missense_Mutation_p.E21K			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	21							protein binding			cervix(1)|lung(4)|ovary(1)|prostate(1)	7						GTCTCTGACTCTGGGTCCGAG	0.672000													11	21					0	0	0.000673444	0	0
C10orf12	26148	broad.mit.edu	37	10	98744728	98744728	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:98744728C>T	ENST00000286067.2	+	1	3688	c.3581C>T	c.(3580-3582)tCt>tTt	p.S1194F		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1194										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GGTGAATCCTCTTCAAGGCCT	0.502000													5	25					0	0	0.00116845	0	0
SOX7	83595	broad.mit.edu	37	8	10583598	10583598	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:10583598G>A	ENST00000304501.1	-	2	895	c.817C>T	c.(817-819)Cct>Tct	p.P273S	SOX7_ENST00000553390.1_Missense_Mutation_p.P325S|SOX7_ENST00000554914.1_Missense_Mutation_p.P325S	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	273	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)		CCGGGTACAGGGGACATCATG	0.677000													12	30					0	0	0.000308642	0	0
DNAJC18	202052	broad.mit.edu	37	5	138761999	138761999	+	Missense_Mutation	SNP	G	G	A	rs143797552		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:138761999G>A	ENST00000302060.5	-	4	501	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	141	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATAGCGAAGTCTCTTA	0.448000													11	57					0	0	0.000219431	0	0
TDRD1	56165	broad.mit.edu	37	10	115947899	115947899	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:115947899G>A	ENST00000251864.2	+	2	462	c.309G>A	c.(307-309)agG>agA	p.R103R	TDRD1_ENST00000369282.1_Silent_p.R103R|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369280.1_Silent_p.R103R|TDRD1_ENST00000369281.2_Silent_p.R103R	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	103					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAGGAGACAGGAAAAAATTGC	0.428000													20	48					0	0	0.00152264	0	0
MYO1F	4542	broad.mit.edu	37	19	8618261	8618261	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:8618261C>T	ENST00000338257.8	-	5	654	c.387G>A	c.(385-387)aaG>aaA	p.K129K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	129	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCCAGACACCTTGGAGATGT	0.547000													19	48					0	0	0.000295444	0	0
PDZD4	57595	broad.mit.edu	37	X	153069985	153069985	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:153069985G>A	ENST00000164640.4	-	8	1324	c.1133C>T	c.(1132-1134)cCc>cTc	p.P378L	PDZD4_ENST00000393758.2_Missense_Mutation_p.P303L|PDZD4_ENST00000544474.1_Missense_Mutation_p.P269L	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	378						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCCGGGGAAAGAGGAG	0.642000													9	3					0	0	0.000673444	0	0
TYW1	55253	broad.mit.edu	37	7	66532274	66532274	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:66532274C>T	ENST00000359626.5	+	10	1322	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	386					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TGTCATAGTCCATGCTCCGAG	0.408000													15	49					0	0	0.000308642	0	0
PTPRR	5801	broad.mit.edu	37	12	71148001	71148001	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:71148001G>T	ENST00000283228.2	-	5	1160	c.708C>A	c.(706-708)agC>agA	p.S236R	PTPRR_ENST00000549308.1_5'UTR|PTPRR_ENST00000342084.4_Missense_Mutation_p.S124R|PTPRR_ENST00000440835.2_5'UTR|PTPRR_ENST00000378778.1_Missense_Mutation_p.S30R	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	236					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TAACAAAGATGCTGAGAAAAA	0.353000													19	9					1.64113e-05	0.000152154	0.00152264	1	0
NLRP2	55655	broad.mit.edu	37	19	55494681	55494681	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:55494681C>T	ENST00000543010.1	+	6	1758	c.1615C>T	c.(1615-1617)Ctt>Ttt	p.L539F	NLRP2_ENST00000391721.4_Missense_Mutation_p.L515F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L539F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L517F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L517F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L516F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L536F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L515F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	539					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACAGAAGCTGCTTTCCGGAGT	0.562000													21	25					0	0	0.00188189	0	0
ZNF33A	7581	broad.mit.edu	37	10	38299687	38299687	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:38299687G>A	ENST00000432900.2	+	1	105	c.6G>A	c.(4-6)gcG>gcA	p.A2A	ZNF33A_ENST00000374618.3_5'UTR|ZNF33A_ENST00000458705.2_5'UTR|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000469037.2_5'UTR			Q06730	ZN33A_HUMAN	zinc finger protein 33A	0						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						TTTCTATGGCGAATGCAACCC	0.642000													11	15					0	0	0.000219431	0	0
SLC8B1	80024	broad.mit.edu	37	12	113748128	113748128	+	Missense_Mutation	SNP	C	C	T	rs142949596		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:113748128C>T	ENST00000552014.1	-	13	1683	c.1168G>A	c.(1168-1170)Gtc>Atc	p.V390I	SLC24A6_ENST00000202831.3_Missense_Mutation_p.V390I|SLC24A6_ENST00000546737.1_Missense_Mutation_p.V334I|SLC24A6_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN		390					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						ACGACCCAGACGGGAACGAGG	0.552000													12	33					0	0	0.00185496	0	0
RPS6KA1	6195	broad.mit.edu	37	1	26885418	26885418	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:26885418C>T	ENST00000374168.2	+	14	1359	c.1205C>T	c.(1204-1206)tCg>tTg	p.S402L	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.S310L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.S386L|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.S310L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.S391L|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.S411L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	402					axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCCCTGCACTCGGTGGTACAG	0.612000													11	18					0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92085966	92085966	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:92085966G>A	ENST00000298047.6	+	1	705	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	FAT3_ENST00000541502.1_Missense_Mutation_p.E230K|FAT3_ENST00000409404.2_Missense_Mutation_p.E230K|FAT3_ENST00000525166.1_Missense_Mutation_p.E80K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	230	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTATGATCTGGAAATTTTGGC	0.393000										TCGA Ovarian(4;0.039)			186	149					0	0	0.000781405	0	0
COL3A1	1281	broad.mit.edu	37	2	189875503	189875503	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:189875503C>T	ENST00000304636.3	+	50	4311	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Q1078*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1381	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ATACATGGATCAGGCCAGTGG	0.453000													8	24					0	0	0.000157383	0	0
OTOL1	131149	broad.mit.edu	37	3	161221562	161221562	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:161221562G>A	ENST00000327928.4	+	4	1266	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	422	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCTATGGTCAGGAAATAGACC	0.478000													4	19					0	0	0.00024832	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84705531	84705531	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:84705531C>T	ENST00000286744.5	+	29	4985	c.4761C>T	c.(4759-4761)acC>acT	p.T1587T	ADAMTSL3_ENST00000567476.1_Silent_p.T1587T	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1587						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)			TCAGACCCACCTTAAGAAGGA	0.478000													5	9					0	0	0.00116845	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156629404	156629404	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:156629404G>A	ENST00000296518.7	+	5	543	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.E112K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.E112K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.E112K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.E112K|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.E112K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	112					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTTGGAAAGAGAAGACTTTGA	0.279000													38	83					0	0	0.000680045	0	0
IFI27L1	122509	broad.mit.edu	37	14	94568857	94568857	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:94568857C>T	ENST00000555523.1	+	5	477	c.258C>T	c.(256-258)atC>atT	p.I86I	IFI27L1_ENST00000393115.3_Silent_p.I86I|IFI27L1_ENST00000554562.1_3'UTR|IFI27L1_ENST00000553350.1_Intron|IFI27L1_ENST00000557218.1_Silent_p.I32I|IFI27L1_ENST00000556381.1_3'UTR|IFI27L1_ENST00000553664.1_3'UTR|IFI27L1_ENST00000557066.1_Silent_p.I32I|IFI27L1_ENST00000554544.1_Silent_p.I21I	NM_206949.2	NP_996832.1	Q96BM0	I27L1_HUMAN	interferon, alpha-inducible protein 27-like 1	86						integral to membrane				lung(2)	2						CTAAAGTTATCGGGGGCTTTG	0.597000													17	11					0	0	0.000958276	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516026	84516026	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:84516026G>A	ENST00000395226.2	+	8	985	c.767G>A	c.(766-768)gGa>gAa	p.G256E	AGPAT9_ENST00000264409.4_Missense_Mutation_p.G256E	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	256					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GGCTTGATGGGAATTATTCAG	0.428000													64	123					0	0	0.000781405	0	0
FREM2	341640	broad.mit.edu	37	13	39264404	39264404	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:39264404G>A	ENST00000280481.7	+	1	3139	c.2923G>A	c.(2923-2925)Gaa>Aaa	p.E975K		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	975					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GACCAATGAGGAAACTGATGA	0.443000													18	68					0	0	0.00074312	0	0
MYO5B	4645	broad.mit.edu	37	18	47479662	47479662	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:47479662C>T	ENST00000285039.7	-	14	2019	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	574	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATCTGCTCTTCATACACCGTG	0.532000													20	51					0	0	0.00047179	0	0
CHD1	1105	broad.mit.edu	37	5	98228321	98228321	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:98228321G>A	ENST00000284049.3	-	14	2237	c.2088C>T	c.(2086-2088)cgC>cgT	p.R696R		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	696					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCTTAACTCGGCGTAACAGAA	0.393000													35	65					0	0	0.00058488	0	0
CTNNA3	29119	broad.mit.edu	37	10	68526075	68526075	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:68526075C>T	ENST00000433211.1	-	9	1402	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E410K|CTNNA3_ENST00000494580.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	410					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TCTTTTATTTCCTTTTCCCGG	0.443000													33	52					0	0	0.000409698	0	0
CARD6	84674	broad.mit.edu	37	5	40843311	40843311	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:40843311C>T	ENST00000254691.5	+	2	540	c.341C>T	c.(340-342)tCa>tTa	p.S114L	CARD6_ENST00000381677.3_Missense_Mutation_p.S114L	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	114					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGCAGTAATTCAGAAGATGCT	0.388000													32	38					0	0	0.000491102	0	0
USPL1	10208	broad.mit.edu	37	13	31233315	31233315	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:31233315C>T	ENST00000255304.4	+	9	3443	c.3101C>T	c.(3100-3102)cCa>cTa	p.P1034L		NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	1034					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AAGAAAAATCCATGTGAAGTT	0.408000													15	61					0	0	0.000219431	0	0
SLC2A12	154091	broad.mit.edu	37	6	134312437	134312437	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:134312437C>T	ENST00000275230.5	-	5	1865	c.1710G>A	c.(1708-1710)gtG>gtA	p.V570V		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	570						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TGTTGTTTTTCACATAGTTCC	0.368000													27	24					0	0	0.00127121	0	0
CYP2C9	1559	broad.mit.edu	37	10	96708970	96708970	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:96708970G>A	ENST00000260682.6	+	5	760	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	250					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	AAAAGTAAAAGAACACCAAGA	0.313000													11	41					0	0	0.000673444	0	0
GAPVD1	26130	broad.mit.edu	37	9	128094815	128094815	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:128094815C>T	ENST00000470056.1	+	13	2495	c.2335C>T	c.(2335-2337)Ccc>Tcc	p.P779S	GAPVD1_ENST00000394104.2_Missense_Mutation_p.P779S|GAPVD1_ENST00000265956.4_Missense_Mutation_p.P779S|GAPVD1_ENST00000495955.1_Missense_Mutation_p.P779S|GAPVD1_ENST00000394105.2_Missense_Mutation_p.P779S|GAPVD1_ENST00000297933.6_Missense_Mutation_p.P779S|GAPVD1_ENST00000312123.9_Missense_Mutation_p.P758S|GAPVD1_ENST00000394083.2_Missense_Mutation_p.P758S			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	779					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGAGGATATTCCCAATAAGAT	0.358000													44	35					0	0	0.000781405	0	0
CHODL	140578	broad.mit.edu	37	21	19632525	19632525	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:19632525C>T	ENST00000299295.2	+	4	947	c.556C>T	c.(556-558)Cca>Tca	p.P186S	CHODL_ENST00000400131.1_Missense_Mutation_p.P145S|CHODL_ENST00000400127.1_Missense_Mutation_p.P145S|CHODL_ENST00000400135.1_Missense_Mutation_p.P145S|CHODL_ENST00000543733.1_Missense_Mutation_p.P167S|CHODL_ENST00000400128.1_Missense_Mutation_p.P145S|CHODL_ENST00000338326.3_Missense_Mutation_p.P145S	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	186					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGAGATTAATCCAACAGCCCC	0.289000													19	72					0	0	0.00152264	0	0
CHL1	10752	broad.mit.edu	37	3	432728	432728	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:432728G>A	ENST00000256509.2	+	22	3319	c.2677G>A	c.(2677-2679)Gga>Aga	p.G893R	CHL1_ENST00000397491.2_Missense_Mutation_p.G877R	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	877	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGAAACTCTGGAATGGTTCC	0.363000													15	25					0	0	0.000308642	0	0
RTL1	388015	broad.mit.edu	37	14	101348386	101348386	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:101348386C>T	ENST00000534062.1	-	1	2798	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	914										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TACTCAACCTCGATAGGGGAG	0.577000													7	5					0	0	8.12818e-05	0	0
AGMO	392636	broad.mit.edu	37	7	15427065	15427065	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:15427065T>C	ENST00000342526.3	-	9	1092	c.923A>G	c.(922-924)aAa>aGa	p.K308R		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	308					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						AAGTCTTGGTTTACCTGGACC	0.428000													25	98					0	0	0.000878237	0	0
NDST4	64579	broad.mit.edu	37	4	115792005	115792005	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:115792005C>T	ENST00000264363.2	-	7	2316	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	546	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTTGCAATTTCAGGTTGGTCC	0.443000													26	52					0	0	0.00106085	0	0
ABCC5	10057	broad.mit.edu	37	3	183699584	183699584	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:183699584C>T	ENST00000334444.6	-	8	1318	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	ABCC5_ENST00000265586.6_Missense_Mutation_p.E360K|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	360	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTAAGAACTTCATTCATCTTC	0.408000													31	42					0	0	0.000409698	0	0
PPEF2	5470	broad.mit.edu	37	4	76788533	76788533	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:76788533C>T	ENST00000286719.7	-	14	2045	c.1689G>A	c.(1687-1689)agG>agA	p.R563R		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	563					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACAGCTTCTCCCTCAGAGCTC	0.408000													16	28					0	0	0.000958276	0	0
TG	7038	broad.mit.edu	37	8	134108585	134108585	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:134108585G>A	ENST00000220616.4	+	43	7580	c.7540G>A	c.(7540-7542)Gac>Aac	p.D2514N	SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Missense_Mutation_p.D2457N|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000517648.1_Intron|TG_ENST00000542445.1_Missense_Mutation_p.D884N|TG_ENST00000519543.1_Missense_Mutation_p.D647N	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2514					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTCTCAGGACGACGGGCTCAT	0.562000													56	85					0	0	0.000781405	0	0
C2orf62	375307	broad.mit.edu	37	2	219229429	219229429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:219229429G>T	ENST00000289388.3	+	7	738	c.709G>T	c.(709-711)Gag>Tag	p.E237*	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	237										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCACGCGGAGGAGGGCAT	0.587000													12	35					3.07112e-06	2.85247e-05	0.000978159	1	0
TRIM29	23650	broad.mit.edu	37	11	120008004	120008004	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:120008004G>A	ENST00000341846.5	-	1	1157	c.736C>T	c.(736-738)Ctt>Ttt	p.L246F		NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	246					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		AACATGCAAAGGTAGCAGATG	0.612000													31	34					0	0	0.00111076	0	0
CLDN4	1364	broad.mit.edu	37	7	73245737	73245737	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:73245737C>T	ENST00000435050.1	+	2	2886	c.206C>T	c.(205-207)tCg>tTg	p.S69L	CLDN4_ENST00000431918.1_Missense_Mutation_p.S69L|CLDN4_ENST00000340958.2_Missense_Mutation_p.S69L			O14493	CLD4_HUMAN	claudin 4	69					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTACGACTCGCTGCTGGCA	0.647000													16	29					0	0	0.000566183	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654904	8654904	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:8654904G>A	ENST00000276282.6	-	2	3682	c.3096C>T	c.(3094-3096)ccC>ccT	p.P1032P	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1032										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGTCGGCGTGGGTGGGTAAA	0.567000													14	17					0	0	0.000308642	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401010	11401010	+	Missense_Mutation	SNP	A	A	T	rs74785727		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:11401010A>T	ENST00000002596.5	-	2	1794	c.620T>A	c.(619-621)tTc>tAc	p.F207Y		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	207						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCGCAGCGGGAAAAAGCGCAG	0.597000													16	22					0	0	0.000308642	0	0
TMEM165	55858	broad.mit.edu	37	4	56284107	56284107	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:56284107G>C	ENST00000381334.5	+	4	980	c.747G>C	c.(745-747)tgG>tgC	p.W249C	TMEM165_ENST00000542052.1_Missense_Mutation_p.W186C|TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron	NM_018475.3	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	249						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			TAGCAGAATGGGGTGATCGCT	0.353000													12	46					0	0	0.00185496	0	0
MC5R	4161	broad.mit.edu	37	18	13826027	13826027	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:13826027C>T	ENST00000324750.3	+	1	485	c.263C>T	c.(262-264)tCc>tTc	p.S88F		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	88					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTGAGCATGTCCAGTGCCTGG	0.517000													17	42					0	0	0.00121646	0	0
FILIP1	27145	broad.mit.edu	37	6	76023724	76023724	+	Silent	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:76023724T>C	ENST00000393004.2	-	5	2045	c.1824A>G	c.(1822-1824)agA>agG	p.R608R	FILIP1_ENST00000370020.1_Silent_p.R509R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.R608R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	608										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTGTTATTTCTCTTTCCACTT	0.383000													72	120					0	0	0.000781405	0	0
GRM6	2916	broad.mit.edu	37	5	178417597	178417597	+	Silent	SNP	G	G	A	rs138201914		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:178417597G>A	ENST00000231188.5	-	4	1186	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	GRM6_ENST00000517717.1_Silent_p.I336I	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	336					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACTCACCGTCGATGGAGGCCC	0.617000													4	12					0	0	0.00116845	0	0
IQGAP2	10788	broad.mit.edu	37	5	75893356	75893356	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:75893356C>T	ENST00000274364.6	+	10	1297	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	334					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GGCCCAGCTGCCTGCTGTTTA	0.532000													17	26					0	0	0.000422831	0	0
MSI2	124540	broad.mit.edu	37	17	55752378	55752378	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:55752378C>T	ENST00000284073.2	+	12	1045	c.836C>T	c.(835-837)cCa>cTa	p.P279L	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.P218L|MSI2_ENST00000416426.2_Missense_Mutation_p.P275L	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	279						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GCCAACAGCCCAGGACCTGTC	0.682000			T	HOXA9	CML								35	92					0	0	0.000814825	0	0
TIE1	7075	broad.mit.edu	37	1	43777724	43777724	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:43777724C>T	ENST00000372476.3	+	11	1631	c.1552C>T	c.(1552-1554)Cgt>Tgt	p.R518C	TIE1_ENST00000433781.2_Missense_Mutation_p.R163C	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	518	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATACAGTGTTCGTGTGCAGCT	0.602000													6	32					0	0	0.00116845	0	0
SGPL1	8879	broad.mit.edu	37	10	72631691	72631691	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:72631691C>T	ENST00000373202.3	+	11	1207	c.1007C>T	c.(1006-1008)cCa>cTa	p.P336L		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	336					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	CTGGAGCACCCATTTGATTTC	0.458000													8	38					0	0	0.000274275	0	0
GABRB1	2560	broad.mit.edu	37	4	47408913	47408913	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:47408913G>A	ENST00000295454.3	+	8	1342	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	GABRB1_ENST00000538619.1_Silent_p.E280E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	350					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTGCCAATGAGAAGAATAAAC	0.393000													22	37					0	0	0.000295444	0	0
ESYT3	83850	broad.mit.edu	37	3	138174110	138174110	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:138174110C>T	ENST00000389567.4	+	3	630	c.444C>T	c.(442-444)atC>atT	p.I148I	ESYT3_ENST00000289135.4_Silent_p.I148I	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	148						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						AGCCCAAGATCCGAGAGAAGA	0.537000													75	80					0	0	0.000781405	0	0
TTN	7273	broad.mit.edu	37	2	179522852	179522852	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179522852C>T	ENST00000589042.1	-	186	37968	c.37744G>A	c.(37744-37746)Gaa>Aaa	p.E12582K	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10834	Ig-like 83.						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)			ACGGGAATTTCTTTTTCTGCG	0.413000													35	45					0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158592976	158592976	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158592976G>T	ENST00000368148.3	-	43	6097	c.5917C>A	c.(5917-5919)Ctg>Atg	p.L1973M	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.L1970M	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1973					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGGCATCCAGAGTGTCCTGA	0.463000													126	127					4.84861e-73	4.54457e-72	0.000781405	1	0
TMEM132A	54972	broad.mit.edu	37	11	60701119	60701119	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:60701119C>G	ENST00000005286.4	+	8	1618	c.1465C>G	c.(1465-1467)Ctg>Gtg	p.L489V	TMEM132A_ENST00000453848.2_Missense_Mutation_p.L488V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	488						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTCGCTGCGGCTGACCGTGTG	0.716000													8	5					0	0	0.000157383	0	0
HVCN1	84329	broad.mit.edu	37	12	111088040	111088040	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:111088040C>T	ENST00000356742.5	-	6	1442	c.689G>A	c.(688-690)aGg>aAg	p.R230K	HVCN1_ENST00000242607.8_Missense_Mutation_p.R230K|HVCN1_ENST00000439744.2_Missense_Mutation_p.R210K|HVCN1_ENST00000548312.1_Missense_Mutation_p.R230K			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	230					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CTGTTTTAACCTTAAGAGTTG	0.438000													15	17					0	0	0.000566183	0	0
ASXL3	80816	broad.mit.edu	37	18	31319760	31319760	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:31319760A>T	ENST00000269197.5	+	11	2392	c.2392A>T	c.(2392-2394)Acc>Tcc	p.T798S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAGAACCTTACCTCCCAGCA	0.473000													12	22					0	0	0.00136819	0	0
ZPLD1	131368	broad.mit.edu	37	3	102171836	102171836	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:102171836C>T	ENST00000306176.1	+	3	328	c.228C>T	c.(226-228)ttC>ttT	p.F76F	ZPLD1_ENST00000466937.1_Silent_p.F60F|ZPLD1_ENST00000491959.1_Silent_p.F60F	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	60	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CGGTACTTTTCTCGGGTTATT	0.403000													26	32					0	0	0.000878237	0	0
EMILIN2	84034	broad.mit.edu	37	18	2891242	2891242	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:2891242G>A	ENST00000254528.3	+	4	1276	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	373					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGGGAGAAGGAAACAAGCCT	0.502000													19	37					0	0	0.000958276	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581034	40581034	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:40581034G>A	ENST00000450241.2	-	6	1524	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	ZNF780A_ENST00000594395.1_Missense_Mutation_p.H440Y|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.H440Y|ZNF780A_ENST00000595687.2_Missense_Mutation_p.H439Y|ZNF780A_ENST00000340963.5_Missense_Mutation_p.H439Y|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCATTGGAATGAATTTTCTGA	0.383000													27	130					0	0	0.00127121	0	0
LSR	51599	broad.mit.edu	37	19	35741251	35741251	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35741251A>G	ENST00000602122.1	+	2	774	c.287A>G	c.(286-288)aAc>aGc	p.N96S	LSR_ENST00000347609.4_Missense_Mutation_p.N59S|LSR_ENST00000354900.3_Missense_Mutation_p.N96S|LSR_ENST00000597933.1_3'UTR|LSR_ENST00000360798.3_Missense_Mutation_p.N96S|LSR_ENST00000427250.1_Missense_Mutation_p.N48S|LSR_ENST00000361790.3_Missense_Mutation_p.N96S			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	96	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCGTGTCCAACCCCTACCAC	0.597000													30	145					0	0	0.00195071	0	0
CNTN5	53942	broad.mit.edu	37	11	100061917	100061917	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:100061917G>A	ENST00000524871.1	+	14	1930	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	CNTN5_ENST00000279463.3_Missense_Mutation_p.G547E|CNTN5_ENST00000528682.1_Missense_Mutation_p.G547E|CNTN5_ENST00000418526.2_Missense_Mutation_p.G473E|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000527185.1_Missense_Mutation_p.G547E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	547	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCAGACGAGGGAAAGTACGTT	0.383000													18	18					0	0	0.00121646	0	0
CYP2A13	1553	broad.mit.edu	37	19	41594468	41594468	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:41594468G>A	ENST00000330436.3	+	1	92	c.92G>A	c.(91-93)gGg>gAg	p.G31E		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	31					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AAGAGCAGGGGGAAGCTGCCT	0.582000													17	23					0	0	0.00074312	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2867270	2867270	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:2867270G>A	ENST00000254695.8	+	7	490	c.400G>A	c.(400-402)Gag>Aag	p.E134K	RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.E115K|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.E134K|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.E119K|CTD-3060P21.1_ENST00000574885.1_RNA	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	134					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CTGTGAGGAGGAGGAAGAGGA	0.602000													7	22					0	0	8.12818e-05	0	0
REG1A	5967	broad.mit.edu	37	2	79349161	79349161	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:79349161C>T	ENST00000233735.1	+	4	334	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	77	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						CTGTGCTCACCCAGGCCGAGG	0.517000													34	34					0	0	0.000692331	0	0
SORCS3	22986	broad.mit.edu	37	10	107022168	107022168	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:107022168G>A	ENST00000369701.3	+	26	3750	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1175						integral to membrane	neuropeptide receptor activity	p.E1175K(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GAGCCAAAGTGAAAACGCCCC	0.507000													10	15					0	0	0.000442599	0	0
ZNF169	169841	broad.mit.edu	37	9	97062698	97062698	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:97062698G>A	ENST00000395395.2	+	5	948	c.858G>A	c.(856-858)ggG>ggA	p.G286G	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	286						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGCACTCGGGGGAGAAGCCGT	0.557000													23	21					0	0	0.000375601	0	0
RYR2	6262	broad.mit.edu	37	1	237969462	237969462	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:237969462T>C	ENST00000366574.2	+	99	14494	c.14177T>C	c.(14176-14178)aTg>aCg	p.M4726T	RYR2_ENST00000360064.6_Missense_Mutation_p.M4732T|RYR2_ENST00000542537.1_Missense_Mutation_p.M4710T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4726					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)			GCCTGGTATATGACTATGTCT	0.398000													13	65					0	0	0.00185496	0	0
PRKAA2	5563	broad.mit.edu	37	1	57169985	57169985	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:57169985G>A	ENST00000371244.4	+	7	1196	c.1130G>A	c.(1129-1131)aGc>aAc	p.S377N		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	377					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATAGCAGACAGCCCCAAAGCA	0.468000													16	39					0	0	0.000566183	0	0
KCNT2	343450	broad.mit.edu	37	1	196309670	196309670	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:196309670C>T	ENST00000367433.5	-	16	1685	c.1584G>A	c.(1582-1584)agG>agA	p.R528R	KCNT2_ENST00000367431.4_Silent_p.R478R|KCNT2_ENST00000451324.2_Silent_p.R139R|KCNT2_ENST00000294725.8_Silent_p.R528R|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	528	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TATTATCCTCCCTCCTAACAC	0.308000													15	55					0	0	0.000566183	0	0
PARVG	64098	broad.mit.edu	37	22	44579252	44579252	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:44579252G>A	ENST00000422871.1	+	3	467	c.43G>A	c.(43-45)Ggg>Agg	p.G15R	PARVG_ENST00000415224.1_Missense_Mutation_p.G15R|PARVG_ENST00000453888.3_3'UTR|PARVG_ENST00000444313.2_Missense_Mutation_p.G15R|PARVG_ENST00000466375.2_Missense_Mutation_p.G15R	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	15					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GCTCCCCAAGGGGGTGGAGCC	0.647000													12	17					0	0	0.000219431	0	0
TSPAN17	26262	broad.mit.edu	37	5	176083809	176083809	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:176083809C>T	ENST00000298564.10	+	4	564	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	TSPAN17_ENST00000503045.1_Missense_Mutation_p.L227F|TSPAN17_ENST00000405525.2_Missense_Mutation_p.L250F|TSPAN17_ENST00000508164.1_Missense_Mutation_p.L247F|TSPAN17_ENST00000515708.1_Missense_Mutation_p.L247F|TSPAN17_ENST00000310032.8_Missense_Mutation_p.L250F			Q96FV3	TSN17_HUMAN	tetraspanin 17	247						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCATCGCCCTCCTCCAGGT	0.622000													9	37					0	0	0.000442599	0	0
MAP3K11	4296	broad.mit.edu	37	11	65373427	65373427	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:65373427G>A	ENST00000309100.3	-	7	2214	c.1729C>T	c.(1729-1731)Cag>Tag	p.Q577*	MAP3K11_ENST00000530153.1_Nonsense_Mutation_p.Q320*|MAP3K11_ENST00000532507.1_5'UTR|MAP3K11_ENST00000534432.1_5'UTR	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	577					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTCCCATTCTGGGCTTCCCCA	0.617000													6	5					0	0	8.12818e-05	0	0
TINAG	27283	broad.mit.edu	37	6	54254602	54254602	+	Missense_Mutation	SNP	C	C	T	rs113922573		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:54254602C>T	ENST00000259782.4	+	11	1406	c.1310C>T	c.(1309-1311)tCc>tTc	p.S437F		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	437				S -> F (in Ref. 2; AAF08931/AAF08932).	cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCTGCCAATTCCTGGGGAAAG	0.383000													54	65					0	0	0.000781405	0	0
FGD4	121512	broad.mit.edu	37	12	32755144	32755144	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:32755144C>T	ENST00000427716.2	+	7	1310	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	FGD4_ENST00000525053.1_Missense_Mutation_p.L408F|FGD4_ENST00000534526.2_Missense_Mutation_p.L433F|FGD4_ENST00000546442.1_Missense_Mutation_p.L203F|FGD4_ENST00000531134.1_Missense_Mutation_p.L381F|FGD4_ENST00000266482.3_Missense_Mutation_p.L48F|FGD4_ENST00000381025.3_Missense_Mutation_p.L48F	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	296	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GGCACCATTCCTTAAGATGTA	0.328000													51	53					0	0	0.000781405	0	0
CYYR1	116159	broad.mit.edu	37	21	27938585	27938585	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:27938585G>A	ENST00000299340.4	-	2	519	c.176_splice	c.e2+1	p.S59_splice	CYYR1_ENST00000435845.2_Splice_Site_p.S167_splice|CYYR1_ENST00000400043.3_Splice_Site_p.S59_splice|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	59						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GAATACTCACGAGAGGATATT	0.433000													6	18					0	0	8.12818e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158592977	158592977	+	Silent	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158592977A>G	ENST00000368148.3	-	43	6096	c.5916T>C	c.(5914-5916)acT>acC	p.T1972T	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Silent_p.T1969T	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1972					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGGCATCCAGAGTGTCCTGAG	0.468000													121	125					0	0	0.000781405	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240876	26240876	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:26240876G>A	ENST00000377745.2	+	1	316	c.223G>A	c.(223-225)Gag>Aag	p.E75K		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	75					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				AACCTACACGGAGCACGCCAA	0.582000													10	26					0	0	0.000978159	0	0
PDE2A	5138	broad.mit.edu	37	11	72289953	72289953	+	Silent	SNP	C	C	T	rs143835725		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:72289953C>T	ENST00000334456.5	-	28	2702	c.2457G>A	c.(2455-2457)acG>acA	p.T819T	PDE2A_ENST00000376450.3_Silent_p.T563T|PDE2A_ENST00000444035.2_Silent_p.T810T|PDE2A_ENST00000544570.1_Silent_p.T812T|PDE2A_ENST00000418754.2_Silent_p.T704T|PDE2A_ENST00000540345.1_Silent_p.T810T	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	819	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGATCTTTCTCGTAGTCTTCC	0.592000													105	67					0	0	0.000781405	0	0
PDE7B	27115	broad.mit.edu	37	6	136475307	136475307	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:136475307G>A	ENST00000308191.6	+	7	876	c.573G>A	c.(571-573)gaG>gaA	p.E191E	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	191	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.E191D(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	ACCTGAAAGAGCCAAAGGTAA	0.512000													4	14					0	0	0.00024832	0	0
IGFBP2	3485	broad.mit.edu	37	2	217526682	217526682	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:217526682C>T	ENST00000233809.4	+	3	903	c.774C>T	c.(772-774)atC>atT	p.I258I	IGFBP2_ENST00000456764.1_Silent_p.I114I	NM_000597.2	NP_000588.2	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	258	Thyroglobulin type-1.				positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CCCTGCACATCCCCAACTGTG	0.632000													16	26					0	0	0.000422831	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625542	140625542	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140625542G>A	ENST00000231173.3	+	1	396	c.396G>A	c.(394-396)gaG>gaA	p.E132E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		132	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTCCTGAGTTTCCTGAAA	0.433000													37	56					0	0	0.000781405	0	0
ZNF560	147741	broad.mit.edu	37	19	9585962	9585962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:9585962G>A	ENST00000301480.4	-	3	241	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTGCATACCTGATAACAATTT	0.408000													10	16					0	0	0.00136819	0	0
CYP4F24P	388514	broad.mit.edu	37	19	15880510	15880510	+	RNA	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:15880510C>T	ENST00000595525.1	+	0	529				CYP4F24P_ENST00000587443.2_RNA																							AGACCACTGGCTGTGGTGTCA	0.622000													7	15					0	0	8.12818e-05	0	0
CFB	629	broad.mit.edu	37	6	31915741	31915741	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:31915741G>A	ENST00000556679.1	+	18	2341	c.2286G>A	c.(2284-2286)aaG>aaA	p.K762K	CFB_ENST00000497841.1_3'UTR|CFB_ENST00000477310.1_Silent_p.K611K|CFB_ENST00000425368.2_Silent_p.K260K|CFB_ENST00000456570.1_Silent_p.K762K			P00751	CFAB_HUMAN	complement factor B	260					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAAGCGGAAGATCGTCCTGG	0.552000													63	103					0	0	0.000781405	0	0
VPS13A	23230	broad.mit.edu	37	9	79843091	79843091	+	Silent	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:79843091A>G	ENST00000360280.3	+	17	1766	c.1506A>G	c.(1504-1506)agA>agG	p.R502R	VPS13A_ENST00000376634.4_Silent_p.R502R|VPS13A_ENST00000357409.5_Silent_p.R502R|VPS13A_ENST00000376636.3_Silent_p.R502R	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	502					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTGTTCTAAGAGAAAATCATC	0.289000													8	15					0	0	0.000673444	0	0
SRSF2	6427	broad.mit.edu	37	17	74733091	74733091	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:74733091G>A	ENST00000392485.2	-	1	324	c.152C>T	c.(151-153)aCc>aTc	p.T51I	MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000359995.5_Missense_Mutation_p.T51I|SRSF2_ENST00000508921.3_Missense_Mutation_p.T51I|RP11-318A15.7_ENST00000587459.1_Intron|MFSD11_ENST00000586622.1_5'UTR	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	51	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GGACTCCTTGGTGTAGCGGTC	0.672000			Mis		"""MDS, CLL"""								4	14					0	0	0.000602214	0	0
ADAM7	8756	broad.mit.edu	37	8	24349461	24349461	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:24349461G>A	ENST00000175238.6	+	14	1485	c.1402G>A	c.(1402-1404)Gat>Aat	p.D468N	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.D240N|ADAM7_ENST00000380789.1_Missense_Mutation_p.D468N	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	468	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AGATGAATGTGATTTTCCTGA	0.443000													16	31					0	0	0.000308642	0	0
FAM129B	64855	broad.mit.edu	37	9	130279240	130279240	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:130279240A>C	ENST00000373312.3	-	8	1082	c.869T>G	c.(868-870)gTg>gGg	p.V290G	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.V277G	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	290							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CTTGGACAGCACCTCCTCGAA	0.607000													64	49					0	0	0.000781405	0	0
ATF7IP	55729	broad.mit.edu	37	12	14613792	14613792	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:14613792C>T	ENST00000544627.1	+	9	2866	c.2546C>T	c.(2545-2547)cCc>cTc	p.P849L	ATF7IP_ENST00000261168.4_Missense_Mutation_p.P841L|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P840L|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P840L|ATF7IP_ENST00000540793.1_Missense_Mutation_p.P841L			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	841					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TTGCCAAATCCCACTAAACCA	0.468000													33	39					0	0	0.000953801	0	0
CDH8	1006	broad.mit.edu	37	16	61891121	61891121	+	Missense_Mutation	SNP	G	G	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:61891121G>C	ENST00000577390.1	-	4	1523	c.569C>G	c.(568-570)aCt>aGt	p.T190S	CDH8_ENST00000299345.6_Missense_Mutation_p.T190S|CDH8_ENST00000584337.1_Missense_Mutation_p.T190S|CDH8_ENST00000577730.1_Missense_Mutation_p.T190S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GTCGGTCGCAGTGACGTTAGT	0.368000													10	36					0	0	0.000978159	0	0
SDK2	54549	broad.mit.edu	37	17	71429938	71429938	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:71429938A>T	ENST00000392650.3	-	10	1245	c.1245T>A	c.(1243-1245)gaT>gaA	p.D415E	SDK2_ENST00000388726.3_Missense_Mutation_p.D415E	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	415	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGACATGCCATCGATCACCG	0.592000													5	4					0	0	0.000157383	0	0
SLC6A2	6530	broad.mit.edu	37	16	55735810	55735810	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:55735810C>T	ENST00000379906.2	+	13	2049	c.1794C>T	c.(1792-1794)caC>caT	p.H598H	SLC6A2_ENST00000568943.1_Silent_p.H598H|SLC6A2_ENST00000219833.8_Silent_p.H598H|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000567238.1_Silent_p.H493H|SLC6A2_ENST00000414754.3_Silent_p.H542H|SLC6A2_ENST00000566163.1_Silent_p.H553H	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	598					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGAACGAGCACCACCTGGTGG	0.617000											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	33					0	0	0.000673444	0	0
KCNK9	51305	broad.mit.edu	37	8	140630623	140630623	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:140630623C>T	ENST00000520439.1	-	2	1066	c.1003G>A	c.(1003-1005)Gag>Aag	p.E335K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E335K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	335						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GAGATCTCCTCGATCTTGTAA	0.552000													25	47					0	0	0.000878237	0	0
HVCN1	84329	broad.mit.edu	37	12	111088039	111088039	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:111088039C>T	ENST00000356742.5	-	6	1443	c.690G>A	c.(688-690)agG>agA	p.R230R	HVCN1_ENST00000242607.8_Silent_p.R230R|HVCN1_ENST00000439744.2_Silent_p.R210R|HVCN1_ENST00000548312.1_Silent_p.R230R			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	230					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TCTGTTTTAACCTTAAGAGTT	0.443000													16	16					0	0	0.00074312	0	0
DSP	1832	broad.mit.edu	37	6	7585285	7585285	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:7585285C>T	ENST00000379802.3	+	24	8131	c.7790C>T	c.(7789-7791)tCc>tTc	p.S2597F	DSP_ENST00000418664.2_Missense_Mutation_p.S1998F	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2597	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TCCACCATATCCAGCGTCAGG	0.473000													33	68					0	0	0.000814825	0	0
CPED1	79974	broad.mit.edu	37	7	120767263	120767263	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:120767263C>T	ENST00000310396.5	+	10	1721	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	CPED1_ENST00000450913.2_Silent_p.S418S|CPED1_ENST00000423795.1_Silent_p.S198S	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CATCACTTTCCATATTTTCTG	0.284000													11	61					0	0	0.00185496	0	0
TTN	7273	broad.mit.edu	37	2	179612389	179612389	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179612389C>T	ENST00000360870.5	-	46	14960	c.14738G>A	c.(14737-14739)gGa>gAa	p.G4913E	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1036	Ig-like 29.						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)			CTCACGCTTTCCAGCAGCAAG	0.418000													30	55					0	0	0.00111076	0	0
XIRP1	165904	broad.mit.edu	37	3	39229856	39229856	+	Missense_Mutation	SNP	C	C	T	rs145094629	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:39229856C>T	ENST00000340369.3	-	2	1309	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E361K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	361							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCAGCCTCTTCGTCCCCCTTC	0.587000													39	59					0	0	0.000437636	0	0
NPNT	255743	broad.mit.edu	37	4	106863484	106863484	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:106863484G>A	ENST00000379987.2	+	8	1000	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	NPNT_ENST00000305572.8_Missense_Mutation_p.E262K|NPNT_ENST00000453617.2_Missense_Mutation_p.E279K|NPNT_ENST00000506666.1_Missense_Mutation_p.E292K|NPNT_ENST00000427316.2_Missense_Mutation_p.E292K|NPNT_ENST00000514622.1_Missense_Mutation_p.E262K	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	262					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGTTATGATTGAACCTTCAGG	0.363000													17	33					0	0	0.000958276	0	0
TPTE	7179	broad.mit.edu	37	21	10944706	10944706	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:10944706G>A	ENST00000298232.7	-	10	841	c.474C>T	c.(472-474)taC>taT	p.Y158Y	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Silent_p.Y176Y|TPTE_ENST00000342420.5_Silent_p.Y138Y	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	176					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAAAAAATGTAAACGACAT	0.299000													26	253					0	0	0.000339439	0	0
VWA8	23078	broad.mit.edu	37	13	42161701	42161701	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:42161701C>T	ENST00000379310.3	-	42	5286	c.5218G>A	c.(5218-5220)Gag>Aag	p.E1740K		NM_015058.1	NP_055873.1			von Willebrand factor A domain containing 8																		CACACAGCCTCCATTGTGCGC	0.498000													12	41					0	0	0.00136819	0	0
TOM1L1	10040	broad.mit.edu	37	17	53024634	53024634	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:53024634G>A	ENST00000575882.1	+	12	1496	c.1143G>A	c.(1141-1143)agG>agA	p.R381R	TOM1L1_ENST00000540336.1_Silent_p.R269R|TOM1L1_ENST00000348161.4_Silent_p.R304R|TOM1L1_ENST00000572158.1_Silent_p.R374R|TOM1L1_ENST00000445275.2_Silent_p.R381R|TOM1L1_ENST00000536554.1_Silent_p.R304R	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	381					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTGCCCAAAGGACCAGCCAAA	0.373000													17	32					0	0	0.00188189	0	0
TRIM31	11074	broad.mit.edu	37	6	30079499	30079499	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:30079499G>A	ENST00000376734.3	-	3	564	c.439C>T	c.(439-441)Caa>Taa	p.Q147*	TRIM31_ENST00000540829.1_Nonsense_Mutation_p.Q147*|TRIM31_ENST00000485864.1_5'UTR|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	147						mitochondrion	ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TGCAAGACTTGGATCTGCTCT	0.507000													46	87					0	0	0.000781405	0	0
ABCA12	26154	broad.mit.edu	37	2	215910672	215910672	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:215910672G>A	ENST00000272895.7	-	7	980	c.761C>T	c.(760-762)tCa>tTa	p.S254L		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	254					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)		TTGCACTTGTGAGAAGAAAGA	0.383000													20	36					0	0	0.00188189	0	0
AMPH	273	broad.mit.edu	37	7	38500904	38500904	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:38500904G>A	ENST00000356264.2	-	11	1211	c.996C>T	c.(994-996)atC>atT	p.I332I	AMPH_ENST00000428293.2_Silent_p.I332I|AMPH_ENST00000325590.5_Silent_p.I332I	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	332					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGTCACACTGATTTCTGGAA	0.507000													39	66					0	0	0.00170553	0	0
ZNF143	7702	broad.mit.edu	37	11	9519279	9519279	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:9519279C>T	ENST00000396602.2	+	10	1018	c.899C>T	c.(898-900)tCg>tTg	p.S300L	ZNF143_ENST00000530463.1_Missense_Mutation_p.S299L|ZNF143_ENST00000299606.2_Missense_Mutation_p.S272L|ZNF143_ENST00000396604.1_Missense_Mutation_p.S299L|ZNF143_ENST00000396597.3_Missense_Mutation_p.S269L	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	300					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TATCGGTGTTCGGAAGATAAT	0.323000													18	15					0	0	0.00152264	0	0
NR1H4	9971	broad.mit.edu	37	12	100934528	100934528	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:100934528C>T	ENST00000548884.1	+	9	1539	c.998C>T	c.(997-999)gCt>gTt	p.A333V	NR1H4_ENST00000392986.3_Missense_Mutation_p.A337V|NR1H4_ENST00000549996.1_Missense_Mutation_p.A286V|NR1H4_ENST00000551379.1_Missense_Mutation_p.A347V|NR1H4_ENST00000188403.7_Missense_Mutation_p.A343V	NM_001206977.1|NM_001206979.1|NM_005123.3	NP_001193906.1|NP_001193908.1|NP_005114.1	Q96RI1	NR1H4_HUMAN	nuclear receptor subfamily 1, group H, member 4	347	Ligand-binding.				bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						CTTCGTTCAGCTGAGATTTTC	0.393000													36	36					0	0	0.000692331	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:115256529T>A	ENST00000369535.4	-	3	435	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			44	61					0	0	0.000781405	0	0
RNF175	285533	broad.mit.edu	37	4	154649400	154649400	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:154649400G>A	ENST00000347063.4	-	4	732	c.360C>T	c.(358-360)ctC>ctT	p.L120L	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933.1	Q8N4F7	RN175_HUMAN	ring finger protein 175	120						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TAGCTCTGAAGAGGATGTAAC	0.438000													22	40					0	0	0.000375601	0	0
RELN	5649	broad.mit.edu	37	7	103207091	103207091	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:103207091C>T	ENST00000424685.2	-	32	4863	c.4704G>A	c.(4702-4704)gcG>gcA	p.A1568A	RELN_ENST00000343529.5_Silent_p.A1568A|RELN_ENST00000428762.1_Silent_p.A1568A			P78509	RELN_HUMAN	reelin	1568					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGGTGTCTTCGCGTCCTGTG	0.473000													8	47					0	0	0.000157383	0	0
KCNK2	3776	broad.mit.edu	37	1	215259778	215259778	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:215259778C>T	ENST00000444842.2	+	2	264	c.114C>T	c.(112-114)tcC>tcT	p.S38S	KCNK2_ENST00000391894.2_Silent_p.S23S|KCNK2_ENST00000391895.2_Silent_p.S34S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	38							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TCTCGTTTTCCACGAAACCCA	0.512000													15	54					0	0	0.000422831	0	0
OR4K17	390436	broad.mit.edu	37	14	20586246	20586246	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:20586246G>A	ENST00000315543.4	+	1	681	c.681G>A	c.(679-681)caG>caA	p.Q227Q		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATTTTGTACAGGTAGTCATTG	0.413000													56	39					0	0	0.000781405	0	0
KCNH5	27133	broad.mit.edu	37	14	63174630	63174630	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:63174630T>A	ENST00000322893.7	-	11	2831	c.2563A>T	c.(2563-2565)Aaa>Taa	p.K855*	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	855					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGTGGGTTTTTGGTCACACTG	0.458000													27	18					0	0	0.000878237	0	0
CNGA3	1261	broad.mit.edu	37	2	99012478	99012478	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:99012478C>T	ENST00000393504.1	+	8	1262	c.845C>T	c.(844-846)tCc>tTc	p.S282F	CNGA3_ENST00000272602.2_Missense_Mutation_p.S282F|CNGA3_ENST00000409937.1_Missense_Mutation_p.S286F|CNGA3_ENST00000436404.2_Missense_Mutation_p.S264F	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	282					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CTGAAGTTTTCCCGGCTCTTT	0.488000													10	18					0	0	0.000442599	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373303	86373303	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:86373303G>A	ENST00000604798.1	-	8	2405	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	MGAT4C_ENST00000393205.2_Missense_Mutation_p.R430W|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R401W|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R401W|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R401W|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R401W			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	401					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCATTTTGCCGATCTTCTGTT	0.348000													25	22					0	0	0.000586117	0	0
SGCZ	137868	broad.mit.edu	37	8	13948061	13948061	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:13948061C>T	ENST00000382080.1	-	8	1545	c.830G>A	c.(829-831)cGa>cAa	p.R277Q	SGCZ_ENST00000421524.2_Missense_Mutation_p.R230Q	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	264					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CACTGTCTGTCGAGAACTTGA	0.458000													34	59					0	0	0.00111076	0	0
HPGDS	27306	broad.mit.edu	37	4	95239087	95239087	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:95239087C>T	ENST00000295256.5	-	3	253	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	55	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CCATCAACTTCCAAAATGGGG	0.323000													16	51					0	0	0.00188189	0	0
ERGIC1	57222	broad.mit.edu	37	5	172341851	172341851	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:172341851C>T	ENST00000326654.2	+	3	465	c.250C>T	c.(250-252)Ccc>Tcc	p.P84S	ERGIC1_ENST00000523291.1_Intron|ERGIC1_ENST00000393784.3_Intron			Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	0					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGTATGGAAGCCCTGCCTCAG	0.597000													6	11					0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	3256922	3256922	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:3256922G>A	ENST00000520002.1	-	17	2954	c.2399C>T	c.(2398-2400)aCt>aTt	p.T800I	CSMD1_ENST00000400186.3_Missense_Mutation_p.T800I|CSMD1_ENST00000537824.1_Missense_Mutation_p.T799I|CSMD1_ENST00000539096.1_Missense_Mutation_p.T799I|CSMD1_ENST00000602723.1_Missense_Mutation_p.T800I|CSMD1_ENST00000602557.1_Missense_Mutation_p.T800I|CSMD1_ENST00000542608.1_Missense_Mutation_p.T799I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	800	CUB 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTGTCAAAAGTTATTTTGAT	0.358000													29	79					0	0	0.00148497	0	0
F8	2157	broad.mit.edu	37	X	154159776	154159776	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:154159776C>T	ENST00000360256.4	-	14	2489	c.2289G>A	c.(2287-2289)caG>caA	p.Q763Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	763	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GTCTTGAATTCTGGGAGAAGC	0.408000													54	27					0	0	0.000781405	0	0
CHD6	84181	broad.mit.edu	37	20	40080585	40080585	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:40080585C>T	ENST00000373233.3	-	22	3581	c.3404G>A	c.(3403-3405)cGt>cAt	p.R1135H	CHD6_ENST00000309279.7_Missense_Mutation_p.R618H	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1135					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	p.R1135H(2)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGGAGGGCACGGCAAATCAT	0.517000													12	23					0	0	0.00136819	0	0
NFASC	23114	broad.mit.edu	37	1	204956614	204956614	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:204956614C>T	ENST00000367172.4	+	24	3188	c.2860C>T	c.(2860-2862)Cat>Tat	p.H954Y	NFASC_ENST00000401399.1_Missense_Mutation_p.H847Y|NFASC_ENST00000367170.4_Missense_Mutation_p.H954Y|NFASC_ENST00000338586.6_Missense_Mutation_p.H954Y|NFASC_ENST00000367169.4_Missense_Mutation_p.H847Y|NFASC_ENST00000339876.6_Missense_Mutation_p.H847Y|NFASC_ENST00000404076.1_Missense_Mutation_p.H933Y|NFASC_ENST00000360049.4_Missense_Mutation_p.H950Y|NFASC_ENST00000539706.1_Missense_Mutation_p.H950Y|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000367171.4_Missense_Mutation_p.H939Y|NFASC_ENST00000404907.1_Missense_Mutation_p.H950Y|NFASC_ENST00000513543.1_Missense_Mutation_p.H950Y|NFASC_ENST00000338515.6_Missense_Mutation_p.H954Y			O94856	NFASC_HUMAN	neurofascin	954	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGAATGGGATCATCCTGAGCA	0.517000													24	36					0	0	0.000720815	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056698	183056698	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:183056698G>A	ENST00000328913.3	-	5	673	c.376C>T	c.(376-378)Cca>Tca	p.P126S	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P126S|MCF2L2_ENST00000447025.2_Missense_Mutation_p.P126S|MCF2L2_ENST00000414362.2_Missense_Mutation_p.P126S	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	126	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AAGTTTCCTGGAAATGCCACC	0.418000													10	58					0	0	0.000978159	0	0
FLG2	388698	broad.mit.edu	37	1	152323507	152323507	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:152323507C>T	ENST00000388718.5	-	3	6827	c.6755G>A	c.(6754-6756)gGa>gAa	p.G2252E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2252							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGGCCAGATCCCCTTCTTCC	0.517000													83	187					0	0	0.000781405	0	0
CCDC77	84318	broad.mit.edu	37	12	542408	542408	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:542408C>T	ENST00000239830.4	+	9	920	c.741C>T	c.(739-741)atC>atT	p.I247I	CCDC77_ENST00000422000.1_Silent_p.I215I|CCDC77_ENST00000540344.1_3'UTR|CCDC77_ENST00000412006.2_Silent_p.I215I|CCDC77_ENST00000540180.1_Silent_p.I215I	NM_032358.3	NP_115734.1	Q9BR77	CCD77_HUMAN	coiled-coil domain containing 77	247						centrosome		p.I247I(1)		cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033)			AAGGGCTCATCGAGGACAGAC	0.468000													34	33					0	0	0.00058488	0	0
MAP4	4134	broad.mit.edu	37	3	47957775	47957775	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:47957775C>T	ENST00000426837.2	-	8	1680	c.1593G>A	c.(1591-1593)atG>atA	p.M531I	MAP4_ENST00000360240.6_Missense_Mutation_p.M514I|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Missense_Mutation_p.M514I			P27816	MAP4_HUMAN	microtubule-associated protein 4	514	17 X 14 AA tandem repeats.				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGCCCAGAGCCATTTCTGTTT	0.502000													54	77					0	0	0.000781405	0	0
MSI2	124540	broad.mit.edu	37	17	55752377	55752377	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:55752377C>T	ENST00000284073.2	+	12	1044	c.835C>T	c.(835-837)Cca>Tca	p.P279S	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.P218S|MSI2_ENST00000416426.2_Missense_Mutation_p.P275S	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	279						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGCCAACAGCCCAGGACCTGT	0.677000			T	HOXA9	CML								35	90					0	0	0.000814825	0	0
SYCP2L	221711	broad.mit.edu	37	6	10928651	10928651	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:10928651C>T	ENST00000283141.6	+	18	1752	c.1456C>T	c.(1456-1458)Ccg>Tcg	p.P486S	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	486						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			gccggtccctccgttcggggt	0.473000													17	25					0	0	0.000958276	0	0
KRT40	125115	broad.mit.edu	37	17	39138585	39138585	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:39138585G>A	ENST00000377755.4	-	3	695	c.661C>T	c.(661-663)Ctt>Ttt	p.L221F	KRT40_ENST00000398486.2_Missense_Mutation_p.L221F			Q6A162	K1C40_HUMAN	keratin 40	221	Coil 1B.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TTAAGGCAAAGGAGATCTTCC	0.483000													11	38					0	0	0.000673444	0	0
DEFB118	117285	broad.mit.edu	37	20	29960927	29960927	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:29960927G>A	ENST00000253381.2	+	2	359	c.326G>A	c.(325-327)gGa>gAa	p.G109E		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	109					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGAGGCGGGAAGGGGAACT	0.433000													10	24					0	0	0.000673444	0	0
DDX27	55661	broad.mit.edu	37	20	47853027	47853027	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:47853027A>G	ENST00000371764.4	+	14	1769	c.1760A>G	c.(1759-1761)aAg>aGg	p.K587R	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	587	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCCCTGTGAAGGCCAGGATA	0.597000													58	30					0	0	0.000781405	0	0
IGHA2	3494	broad.mit.edu	37	14	106054206	106054206	+	RNA	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:106054206G>A	ENST00000390539.2	-	0	312																											GGGGGAGGTGGGGGAACTGGA	0.682000													5	5					0	0	8.12818e-05	0	0
MAGEL2	54551	broad.mit.edu	37	15	23889196	23889196	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:23889196C>T	ENST00000532292.1	-	1	1979	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GTGTCAGGTTCATCCTCATCT	0.572000													14	11					0	0	0.000422831	0	0
HAUS5	23354	broad.mit.edu	37	19	36110399	36110399	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:36110399C>T	ENST00000203166.5	+	14	1278	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	418					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TGCCGGAGCCCGGGGGAGGTG	0.642000													4	9					0	0	0.00024832	0	0
MRPS35	60488	broad.mit.edu	37	12	27869317	27869317	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:27869317C>T	ENST00000081029.3	+	3	318	c.247C>T	c.(247-249)Ctt>Ttt	p.L83F	MRPS35_ENST00000538315.1_Missense_Mutation_p.L83F	NM_021821.3	NP_068593.2	P82673	RT35_HUMAN	mitochondrial ribosomal protein S35	83					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					TGCAGTACCTCTTCCTGTTCG	0.458000													17	21					0	0	0.000958276	0	0
GJA10	84694	broad.mit.edu	37	6	90604254	90604254	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:90604254A>G	ENST00000369352.1	+	1	67	c.67A>G	c.(67-69)Aaa>Gaa	p.K23E		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	23					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CATAGTGGGGAAAATCTGGCT	0.473000													38	39					0	0	0.00128727	0	0
MDN1	23195	broad.mit.edu	37	6	90390347	90390347	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:90390347G>A	ENST00000369393.3	-	74	12341	c.12226C>T	c.(12226-12228)Ccc>Tcc	p.P4076S	MDN1_ENST00000428876.1_Missense_Mutation_p.P4076S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4076					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CGAGGCAGGGGGCTCTCCTTC	0.597000													11	9					0	0	0.00185496	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													4	34					0	0	0.00024832	0	0
IRF6	3664	broad.mit.edu	37	1	209968740	209968740	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:209968740C>T	ENST00000367021.3	-	5	575	c.403G>A	c.(403-405)Gat>Aat	p.D135N	IRF6_ENST00000542854.1_Missense_Mutation_p.D40N	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	135					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TCCTTCTCATCCCAGGGAGCA	0.537000										HNSCC(57;0.16)			17	44					0	0	0.00074312	0	0
CDK5RAP1	51654	broad.mit.edu	37	20	31975170	31975170	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:31975170G>A	ENST00000357886.4	-	6	867	c.714C>T	c.(712-714)gtC>gtT	p.V238V	CDK5RAP1_ENST00000544843.1_Silent_p.V238V|CDK5RAP1_ENST00000346416.2_Silent_p.V238V|CDK5RAP1_ENST00000452723.3_Silent_p.V148V|CDK5RAP1_ENST00000473997.1_5'UTR|CDK5RAP1_ENST00000339269.5_Silent_p.V238V			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	238					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						GGACTGGCATGACATCAGCAT	0.552000													11	31					0	0	0.00136819	0	0
BTN3A1	11119	broad.mit.edu	37	6	26413719	26413719	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:26413719C>T	ENST00000289361.6	+	10	1709	c.1341C>T	c.(1339-1341)ccC>ccT	p.P447P	BTN3A1_ENST00000414912.2_Silent_p.P395P	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	447	B30.2/SPRY.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TAACTGAGCCCAGAACCAACC	0.478000													42	64					0	0	0.000509022	0	0
ABCA13	154664	broad.mit.edu	37	7	48314058	48314058	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:48314058C>T	ENST00000435803.1	+	17	4819	c.4795C>T	c.(4795-4797)Cac>Tac	p.H1599Y		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1599					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						TTCCATTTATCACTTAGCTAG	0.343000													112	137					0	0	0.000781405	0	0
NDC80	10403	broad.mit.edu	37	18	2595414	2595414	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:2595414G>A	ENST00000261597.4	+	11	1197		c.e11-1			NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component						attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTCCAACACAGAACTAGAATG	0.328000													19	47					0	0	0.00074312	0	0
TBC1D16	125058	broad.mit.edu	37	17	77915897	77915897	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:77915897G>A	ENST00000310924.2	-	11	2132	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L	TBC1D16_ENST00000576768.1_Silent_p.L298L|TBC1D16_ENST00000340848.7_Silent_p.L311L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	673						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			TGCATGGCCAGGTTTCCGAAG	0.647000													7	18					0	0	8.12818e-05	0	0
HTR2C	3358	broad.mit.edu	37	X	114141364	114141364	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:114141364G>A	ENST00000276198.1	+	6	1491	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	HTR2C_ENST00000371950.3_Missense_Mutation_p.G223E|HTR2C_ENST00000371951.1_Missense_Mutation_p.E255K	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	255					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CCACACCGAGGAACCGCCTGG	0.522000													77	28					0	0	0.000781405	0	0
ABCA13	154664	broad.mit.edu	37	7	48547545	48547545	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:48547545G>A	ENST00000435803.1	+	50	13448	c.13424G>A	c.(13423-13425)aGc>aAc	p.S4475N	ABCA13_ENST00000544596.1_Missense_Mutation_p.S205N	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4475					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						TCCATCGGCAGCTCTGTGGTG	0.552000													5	24					0	0	0.000602214	0	0
GPR152	390212	broad.mit.edu	37	11	67219543	67219543	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:67219543G>A	ENST00000312457.2	-	1	657	c.653C>T	c.(652-654)aCa>aTa	p.T218I		NM_206997.1	NP_996880.1	Q8TDT2	GP152_HUMAN	G protein-coupled receptor 152	218						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCGACAGGCTGTGGCCTGGGT	0.667000													15	17					0	0	0.00074312	0	0
MAPK1IP1L	93487	broad.mit.edu	37	14	55529570	55529570	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:55529570C>T	ENST00000395468.3	+	3	430	c.253C>T	c.(253-255)Cca>Tca	p.P85S	MAPK1IP1L_ENST00000554364.1_3'UTR	NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	85	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						TCCAGGACCCCCAGCACCCTT	0.627000													7	9					0	0	8.12818e-05	0	0
OR8K3	219473	broad.mit.edu	37	11	56085993	56085993	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:56085993C>T	ENST00000312711.1	+	1	211	c.211C>T	c.(211-213)Ctt>Ttt	p.L71F		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTTCATGGATCTTGGTTATTC	0.383000													63	64					0	0	0.000781405	0	0
KCNB2	9312	broad.mit.edu	37	8	73850152	73850152	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:73850152C>T	ENST00000523207.1	+	3	3150	c.2562C>T	c.(2560-2562)tcC>tcT	p.S854S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	854					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)			TGGGCTCTTCCTCCCCGCAGG	0.502000													29	44					0	0	0.00106085	0	0
MYLK	4638	broad.mit.edu	37	3	123419461	123419461	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:123419461C>T	ENST00000360772.3	-	19	3232	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	MYLK_ENST00000360304.3_Missense_Mutation_p.D952N|MYLK_ENST00000359169.1_Missense_Mutation_p.D952N|MYLK_ENST00000346322.5_Missense_Mutation_p.D883N|MYLK_ENST00000475616.1_Missense_Mutation_p.D952N			Q15746	MYLK_HUMAN	myosin light chain kinase	952	5 X 28 AA approximate tandem repeats.|Actin-binding (calcium/calmodulin- sensitive) (By similarity).|Calmodulin-binding (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGCGAAAATCGACCTGCTGG	0.597000													7	33					0	0	8.12818e-05	0	0
EPS8	2059	broad.mit.edu	37	12	15811501	15811501	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:15811501C>A	ENST00000281172.5	-	11	1392	c.956G>T	c.(955-957)cGg>cTg	p.R319L	EPS8_ENST00000542903.1_Missense_Mutation_p.R59L|EPS8_ENST00000543612.1_Missense_Mutation_p.R319L|EPS8_ENST00000543523.1_Missense_Mutation_p.R319L|EPS8_ENST00000540613.1_Missense_Mutation_p.R59L	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	319					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	p.R319L(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGTTTTGCCCGCAGCGTTAA	0.348000													8	141					0.000442599	0.00408131	0.000442599	1	0
TFEC	22797	broad.mit.edu	37	7	115590988	115590988	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:115590988C>T	ENST00000265440.7	-	6	635	c.455G>A	c.(454-456)aGg>aAg	p.R152K	TFEC_ENST00000320239.7_Missense_Mutation_p.R123K|TFEC_ENST00000393485.1_Missense_Mutation_p.R123K|TFEC_ENST00000484212.1_Missense_Mutation_p.R242K|TFEC_ENST00000457268.1_Missense_Mutation_p.R85K	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	152	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			AATATTATACCTTCTTCTTCT	0.274000													17	35					0	0	0.00074312	0	0
PEG3	5178	broad.mit.edu	37	19	57327768	57327768	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:57327768T>C	ENST00000326441.9	-	10	2405	c.2042A>G	c.(2041-2043)aAg>aGg	p.K681R	PEG3_ENST00000598410.1_Missense_Mutation_p.K557R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.K555R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K681R|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	681					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAGCTTCTCCTTATTGTAAGT	0.428000													21	71					0	0	0.000375601	0	0
MEST	4232	broad.mit.edu	37	7	130143796	130143796	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:130143796G>T	ENST00000223215.4	+	11	1070	c.849G>T	c.(847-849)ttG>ttT	p.L283F	MEST_ENST00000437945.1_Intron|MEST_ENST00000393187.1_Missense_Mutation_p.L274F|MEST_ENST00000341441.4_Missense_Mutation_p.L274F|MEST_ENST00000416162.2_Missense_Mutation_p.L240F|MEST_ENST00000378576.4_Missense_Mutation_p.L240F	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	283					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					ATGGGCCATTGGATCCTGTAA	0.408000													13	386					0.00074312	0.0068157	0.00074312	1	0
L1TD1	54596	broad.mit.edu	37	1	62675553	62675553	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:62675553G>A	ENST00000498273.1	+	4	1402	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	369	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CTAAGCCAGAGGAGATGAAAA	0.438000													60	76					0	0	0.000781405	0	0
LEPR	3953	broad.mit.edu	37	1	66062252	66062252	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:66062252G>A	ENST00000349533.6	+	7	1010	c.825G>A	c.(823-825)gaG>gaA	p.E275E	LEPR_ENST00000371060.3_Silent_p.E275E|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Silent_p.E275E|LEPR_ENST00000371058.1_Silent_p.E275E|LEPR_ENST00000371059.3_Silent_p.E275E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	275	Fibronectin type-III 1.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATTCAGAGAATTCTACAA	0.338000													25	20					0	0	0.000878237	0	0
LCTL	197021	broad.mit.edu	37	15	66844489	66844489	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:66844489G>A	ENST00000341509.5	-	10	1347	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	LCTL_ENST00000537670.1_Missense_Mutation_p.P233S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	406					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.P406A(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACATATATGGGAGGATCACCG	0.358000													26	26					0	0	0.00178596	0	0
AGL	178	broad.mit.edu	37	1	100345591	100345591	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:100345591C>T	ENST00000294724.4	+	13	2202	c.1724C>T	c.(1723-1725)tCc>tTc	p.S575F	AGL_ENST00000370161.2_Missense_Mutation_p.S559F|AGL_ENST00000370163.3_Missense_Mutation_p.S575F|AGL_ENST00000370165.3_Missense_Mutation_p.S575F|AGL_ENST00000361915.3_Missense_Mutation_p.S575F|AGL_ENST00000361522.4_Missense_Mutation_p.S558F|AGL_ENST00000361302.3_Missense_Mutation_p.S559F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	575					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GGCATTAGTTCCTTAATAAGA	0.358000													23	109					0	0	0.000878237	0	0
SLC27A6	28965	broad.mit.edu	37	5	128320843	128320843	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:128320843G>A	ENST00000262462.4	+	2	1509	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	SLC27A6_ENST00000395266.1_Missense_Mutation_p.E167K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E167K			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	167					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TGGAACGGTAGAAGAAATCCT	0.388000													8	15					0	0	0.000442599	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716008	13716008	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:13716008G>A	ENST00000279593.3	-	13	4373	c.4164C>T	c.(4162-4164)atC>atT	p.I1388I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1388					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)	CAAAAGTGGGGATGAAAGGGT	0.622000													19	10					0	0	0.00074312	0	0
DSCAML1	57453	broad.mit.edu	37	11	117332272	117332272	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:117332272G>A	ENST00000321322.6	-	18	3487	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	DSCAML1_ENST00000527706.1_Silent_p.I892I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1102	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGTCAGAAGTGATGGACAGGG	0.607000													25	27					0	0	0.001512	0	0
MMP24	10893	broad.mit.edu	37	20	33842281	33842281	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:33842281G>A	ENST00000246186.6	+	4	626	c.541G>A	c.(541-543)Gag>Aag	p.E181K	MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	181					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			AAAAGTGGGTGAGCTAGACAC	0.488000													26	64					0	0	0.00106085	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140750382	140750382	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140750382G>A	ENST00000576222.1	+	1	552	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGAGCTGGAAATCAGCGA	0.468000													54	75					0	0	0.000781405	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537261	140537261	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140537261C>T	ENST00000539533.1	+	1	1685	c.1685C>T	c.(1684-1686)tCg>tTg	p.S562L																								ACTCGCCCTTCGTGCTGTACC	0.711000													19	18					0	0	0.000375601	0	0
KRT38	8687	broad.mit.edu	37	17	39596778	39596778	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:39596778C>T	ENST00000246646.3	-	1	395	c.396G>A	c.(394-396)ctG>ctA	p.L132L		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	132	Coil 1A.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GTGTGGCCTCCAGCTCCGCAT	0.592000													25	37					0	0	0.00106085	0	0
MROH2B	133558	broad.mit.edu	37	5	41038885	41038885	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:41038885G>A	ENST00000399564.4	-	21	2617	c.2167C>T	c.(2167-2169)Caa>Taa	p.Q723*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.Q278*	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		ATGATATCTTGATTAAGTCTG	0.483000													19	17					0	0	0.00121646	0	0
TENM1	10178	broad.mit.edu	37	X	123514833	123514833	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:123514833C>A	ENST00000422452.2	-	32	7815	c.7752G>T	c.(7750-7752)aaG>aaT	p.K2584N	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.K2577N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GAGACCCAAGCTTAATGAAGT	0.498000													42	16					1.48646e-12	1.38818e-11	0.000509022	1	0
TGM5	9333	broad.mit.edu	37	15	43552268	43552268	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:43552268A>T	ENST00000220420.5	-	3	425	c.418T>A	c.(418-420)Ttc>Atc	p.F140I	TGM5_ENST00000349114.4_Intron	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	140					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CAGGGATTGAAAAGCAGGATG	0.597000													18	16					0	0	0.00152264	0	0
CYP4F3	4051	broad.mit.edu	37	19	15769601	15769601	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:15769601C>T	ENST00000221307.7	+	12	1427	c.1379C>T	c.(1378-1380)cCc>cTc	p.P460L	CYP4F3_ENST00000585846.1_Missense_Mutation_p.P460L|CYP4F3_ENST00000591058.1_Missense_Mutation_p.P460L|CYP4F3_ENST00000586182.1_Missense_Mutation_p.P460L	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	460					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCTTTTATTCCCTTCTCAGCA	0.582000													9	65					0	0	0.000978159	0	0
SEC31B	25956	broad.mit.edu	37	10	102256030	102256030	+	Silent	SNP	G	G	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:102256030G>C	ENST00000370345.3	-	18	2392	c.2295C>G	c.(2293-2295)ccC>ccG	p.P765P		NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	765					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CACAGTCCCTGGGTAGAAAGC	0.552000													7	22					0	0	0.000157383	0	0
TOM1L1	10040	broad.mit.edu	37	17	53024633	53024633	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:53024633G>A	ENST00000575882.1	+	12	1495	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	TOM1L1_ENST00000540336.1_Missense_Mutation_p.R269K|TOM1L1_ENST00000348161.4_Missense_Mutation_p.R304K|TOM1L1_ENST00000572158.1_Missense_Mutation_p.R374K|TOM1L1_ENST00000445275.2_Missense_Mutation_p.R381K|TOM1L1_ENST00000536554.1_Missense_Mutation_p.R304K	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	381					intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTTGCCCAAAGGACCAGCCAA	0.373000													17	32					0	0	0.00188189	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76572238	76572238	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:76572238G>A	ENST00000307431.8	+	20	3603	c.3218G>A	c.(3217-3219)gGt>gAt	p.G1073D	CNTNAP4_ENST00000476707.1_Splice_Site|CNTNAP4_ENST00000469589.1_Splice_Site|CNTNAP4_ENST00000478060.1_Splice_Site|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G1025D	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1074	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GCCAAAAATGGTGAGTTCTTT	0.358000													46	45					0	0	0.000781405	0	0
MPP7	143098	broad.mit.edu	37	10	28378684	28378684	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:28378684C>T	ENST00000337532.5	-	13	1315	c.1039G>A	c.(1039-1041)Gac>Aac	p.D347N	MPP7_ENST00000445954.2_Missense_Mutation_p.D222N|MPP7_ENST00000540098.1_Missense_Mutation_p.D347N|MPP7_ENST00000375732.1_Missense_Mutation_p.D347N|MPP7_ENST00000375719.3_Missense_Mutation_p.D347N	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	347					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCAGCTGTGTCGTACTGATCA	0.368000													27	72					0	0	0.00127121	0	0
NEB	4703	broad.mit.edu	37	2	152426609	152426609	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:152426609C>T	ENST00000427231.2	-	109	17618	c.17416G>A	c.(17416-17418)Gaa>Aaa	p.E5806K	NEB_ENST00000409198.1_Missense_Mutation_p.E4105K|NEB_ENST00000603639.1_Missense_Mutation_p.E5806K|NEB_ENST00000397345.3_Missense_Mutation_p.E5806K|NEB_ENST00000172853.10_Missense_Mutation_p.E4105K|NEB_ENST00000604864.1_Missense_Mutation_p.E5806K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5825					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTGCAGTTCGTAGGCCTTC	0.512000													6	17					0	0	0.00116845	0	0
NT5C2	22978	broad.mit.edu	37	10	104860814	104860814	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:104860814G>A	ENST00000343289.5	-	7	614	c.527C>T	c.(526-528)cCc>cTc	p.P176L	NT5C2_ENST00000423468.2_Missense_Mutation_p.P147L|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000404739.3_Missense_Mutation_p.P176L	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	176					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	GGTATATCTGGGACAATTAGT	0.299000													15	39					0	0	0.000219431	0	0
RASGRF1	5923	broad.mit.edu	37	15	79298587	79298587	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:79298587G>A	ENST00000419573.3	-	15	2329	c.2055C>T	c.(2053-2055)atC>atT	p.I685I	RASGRF1_ENST00000558480.2_Silent_p.I672I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	685	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCAGGACCACGATGGCGGTGG	0.602000													24	24					0	0	0.000586117	0	0
KCNC1	3746	broad.mit.edu	37	11	17794121	17794121	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:17794121G>A	ENST00000379472.3	+	2	1510	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	KCNC1_ENST00000265969.6_Missense_Mutation_p.E494K	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	494						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GGCCCAGGAAGAAATTTTAGA	0.498000													34	26					0	0	0.00058488	0	0
BRIP1	83990	broad.mit.edu	37	17	59858249	59858249	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:59858249C>T	ENST00000259008.2	-	12	2013	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	BRIP1_ENST00000577598.1_Silent_p.Q582Q	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	582					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						CTGCAGTTTTCTGTCGTGAAC	0.368000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					58	92					0	0	0.000781405	0	0
MIA3	375056	broad.mit.edu	37	1	222806471	222806471	+	Silent	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:222806471T>C	ENST00000344922.5	+	6	3382	c.3357T>C	c.(3355-3357)ccT>ccC	p.P1119P	MIA3_ENST00000344441.6_Silent_p.P1119P|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1119					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGACACTCCTATGGATGCTA	0.398000													40	581					0	0	0.00128727	0	0
ERVW-1	30816	broad.mit.edu	37	7	92098132	92098132	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:92098132C>T	ENST00000493463.2	-	1	2487	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	ERVW-1_ENST00000604270.1_5'UTR|AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.E522K	NM_014590.3	NP_055405.3	Q9UQF0	ENW1_HUMAN		522					syncytium formation	integral to membrane|plasma membrane|virion				endometrium(1)|large_intestine(1)|lung(15)	17						gctgagatttcctcaggaggg	0.547000													45	54					0	0	0.000781405	0	0
OR4A15	81328	broad.mit.edu	37	11	55135946	55135946	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:55135946T>C	ENST00000314706.3	+	1	587	c.587T>C	c.(586-588)tTc>tCc	p.F196S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAGCTCCCTTTCTGTGGACCC	0.428000													43	34					0	0	0.000437636	0	0
SOX30	11063	broad.mit.edu	37	5	157065568	157065568	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:157065568G>A	ENST00000265007.6	-	4	1891	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	SOX30_ENST00000519442.1_Missense_Mutation_p.S212F|SOX30_ENST00000311371.5_Intron	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	517					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCTGTTTGGGAAGGCCCAGT	0.542000													4	15					0	0	0.00024832	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713587	70713587	+	RNA	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:70713587C>T	ENST00000530196.1	-	0	931					NR_003951.1																						GAAAACATTTCCTTGATTCCA	0.378000													20	24					0	0	0.000958276	0	0
EFTUD1	79631	broad.mit.edu	37	15	82444475	82444475	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:82444475G>A	ENST00000268206.7	-	18	2488	c.2320C>T	c.(2320-2322)Cgt>Tgt	p.R774C	EFTUD1_ENST00000359445.3_Missense_Mutation_p.R723C	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	774					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TCCATAGAACGAATCAAATCA	0.418000													25	25					0	0	0.000586117	0	0
CMYA5	202333	broad.mit.edu	37	5	79029915	79029915	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:79029915G>A	ENST00000446378.2	+	2	5358	c.5327G>A	c.(5326-5328)gGa>gAa	p.G1776E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1776						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CCACCAACTGGAAATTTGAAG	0.403000													33	47					0	0	0.00148497	0	0
RNF216	54476	broad.mit.edu	37	7	5780816	5780816	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:5780816C>T	ENST00000425013.2	-	4	885	c.661G>A	c.(661-663)Gaa>Aaa	p.E221K	RNF216_ENST00000389902.3_Missense_Mutation_p.E278K	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	221					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TGCTGGGGTTCCGGCCTTGGA	0.547000													17	53					0	0	0.000958276	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804147	160804147	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:160804147G>A	ENST00000392781.2	-	8	1143	c.396C>T	c.(394-396)tcC>tcT	p.S132S	B3GALNT1_ENST00000473285.1_Silent_p.S132S|B3GALNT1_ENST00000320474.4_Silent_p.S132S|B3GALNT1_ENST00000392779.2_Silent_p.S132S|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.S132S|B3GALNT1_ENST00000392780.1_Silent_p.S132S	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	132					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			CATCCTCTAAGGACAATGCCA	0.383000													33	45					0	0	0.000491102	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351124	40351124	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:40351124C>T	ENST00000310169.2	+	4	730	c.591C>T	c.(589-591)ttC>ttT	p.F197F		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	197					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity	p.F197F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TCTCTGACTTCATTGAAGATG	0.512000													39	85					0	0	0.00128727	0	0
MRAP2	112609	broad.mit.edu	37	6	84765131	84765131	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:84765131C>T	ENST00000257776.4	+	2	229	c.94C>T	c.(94-96)Cca>Tca	p.P32S		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	32					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						TGAGATTGGACCAGTTTCCTT	0.393000													17	21					0	0	0.000958276	0	0
RANBP2	5903	broad.mit.edu	37	2	109382770	109382770	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:109382770G>A	ENST00000283195.6	+	20	5901	c.5775G>A	c.(5773-5775)caG>caA	p.Q1925Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1925					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCCAGGCTCAGGATATTAGTG	0.413000													116	180					0	0	0.000781405	0	0
SNRNP200	23020	broad.mit.edu	37	2	96965144	96965144	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:96965144C>A	ENST00000323853.5	-	6	729	c.652G>T	c.(652-654)Ggg>Tgg	p.G218W	SNRNP200_ENST00000349783.5_Missense_Mutation_p.G218W	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	218						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CGAACCTCCCCGTATACGTCT	0.527000													5	57					0.000602214	0.00553325	0.000602214	1	0
SLC9C1	285335	broad.mit.edu	37	3	111888046	111888046	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:111888046C>T	ENST00000305815.5	-	24	3301	c.3049G>A	c.(3049-3051)Gag>Aag	p.E1017K	SLC9C1_ENST00000487372.1_Missense_Mutation_p.E969K	NM_183061.1	NP_898884.1	Q4G0N8	S9A10_HUMAN	solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1	1017					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CTTCCTACCTCATAAGATAAG	0.323000													14	45					0	0	0.00074312	0	0
CCSER1	401145	broad.mit.edu	37	4	91229571	91229571	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:91229571C>T	ENST00000509176.1	+	2	424	c.136C>T	c.(136-138)Cct>Tct	p.P46S	CCSER1_ENST00000432775.2_Missense_Mutation_p.P46S|CCSER1_ENST00000333691.8_Missense_Mutation_p.P46S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CAGTTCCTCTCCTTCCAGCAC	0.458000													16	45					0	0	0.000958276	0	0
CYFIP2	26999	broad.mit.edu	37	5	156721794	156721794	+	Translation_Start_Site	SNP	T	T	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:156721794T>G	ENST00000442283.2	+	0	348				CYFIP2_ENST00000347377.6_Missense_Mutation_p.N70K|CYFIP2_ENST00000318218.6_Missense_Mutation_p.N70K|CYFIP2_ENST00000377576.3_Missense_Mutation_p.N70K|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron	NM_001037333.1	NP_001032410.1	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2						apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATTTCAGAATGAGATGCTGG	0.542000													68	118					0	0	0.000781405	0	0
GPR31	2853	broad.mit.edu	37	6	167570453	167570453	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:167570453G>A	ENST00000366834.1	-	1	1364	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	289						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGAGCTCCTGAAGGTGGGGC	0.592000													17	29					0	0	0.000566183	0	0
B3GNTL1	146712	broad.mit.edu	37	17	80915340	80915340	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:80915340G>A	ENST00000576599.1	-	9	1173	c.423C>T	c.(421-423)ttC>ttT	p.F141F	B3GNTL1_ENST00000320865.3_Silent_p.F252F			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	252							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCTCTTCCAGGAAGCGGACGC	0.672000													8	11					0	0	0.000157383	0	0
AKAP7	9465	broad.mit.edu	37	6	131520642	131520642	+	Missense_Mutation	SNP	G	G	A	rs34221901	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:131520642G>A	ENST00000431975.2	+	6	729	c.631G>A	c.(631-633)Gga>Aga	p.G211R	AKAP7_ENST00000368123.4_Missense_Mutation_p.G189R|AKAP7_ENST00000541650.1_Missense_Mutation_p.G210R	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		CATCCTGGTAGGAGAGAGCAG	0.373000													15	9					0	0	0.000958276	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735718	55735718	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:55735718C>T	ENST00000312345.2	-	1	272	c.222G>A	c.(220-222)atG>atA	p.M74I		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCCAAATGTCCATGAGCATTC	0.383000													33	29					0	0	0.00058488	0	0
PSG5	5673	broad.mit.edu	37	19	43689216	43689216	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:43689216C>T	ENST00000404580.1	-	2	236	c.148G>A	c.(148-150)Gat>Aat	p.D50N	PSG5_ENST00000342951.6_Missense_Mutation_p.D50N|PSG5_ENST00000407568.1_Missense_Mutation_p.D50N|PSG5_ENST00000407356.1_Missense_Mutation_p.D50N|PSG5_ENST00000401992.1_5'UTR|PSG5_ENST00000599812.1_Missense_Mutation_p.D50N|PSG5_ENST00000366175.3_Missense_Mutation_p.D50N			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	50	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGAAGAACATCCTTCCCCTCG	0.453000													42	99					0	0	0.000437636	0	0
PHLDB2	90102	broad.mit.edu	37	3	111604058	111604058	+	Silent	SNP	G	G	A	rs145708919	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:111604058G>A	ENST00000431670.2	+	2	1545	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	PHLDB2_ENST00000481953.1_Silent_p.A378A|PHLDB2_ENST00000478922.1_Silent_p.A378A|PHLDB2_ENST00000393923.3_Silent_p.A405A|PHLDB2_ENST00000393925.3_Silent_p.A378A|PHLDB2_ENST00000477695.1_Silent_p.A378A|PHLDB2_ENST00000412622.1_Silent_p.A378A	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	378						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAGTTTTTGCGACCAGGAGGA	0.527000													22	36					0	0	0.000878237	0	0
MR1	3140	broad.mit.edu	37	1	181018257	181018257	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:181018257C>T	ENST00000367580.5	+	2	142	c.137C>T	c.(136-138)tCg>tTg	p.S46L	MR1_ENST00000282990.6_Missense_Mutation_p.S46L|MR1_ENST00000434571.2_Missense_Mutation_p.S46L|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.S46L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	46	Alpha-1.|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	p.S46L(1)		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						GAATTTATTTCGGTTGGGTAC	0.547000													12	27					0	0	0.00136819	0	0
GADL1	339896	broad.mit.edu	37	3	30875357	30875357	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:30875357C>T	ENST00000454381.3	-	11	1084	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	GADL1_ENST00000282538.5_Silent_p.V346V			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	346					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ATTTGTCTTTCACAAGGAGAG	0.493000													23	50					0	0	0.000295444	0	0
PPP6C	5537	broad.mit.edu	37	9	127912094	127912094	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:127912094G>A	ENST00000451402.1	-	8	1107	c.887C>T	c.(886-888)cCt>cTt	p.P296L	PPP6C_ENST00000415905.1_Missense_Mutation_p.P237L|PPP6C_ENST00000373547.4_Missense_Mutation_p.P259L|PPP6C_ENST00000373546.3_Missense_Mutation_p.P112L	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	259					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						GCAGTAATTAGGAGCAGACCA	0.388000													24	16					0	0	0.00047179	0	0
GORAB	92344	broad.mit.edu	37	1	170521409	170521409	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:170521409C>T	ENST00000367763.3	+	5	1011	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C		NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	331	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus		p.R331C(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						ACCAGTGGTTCGTTTAGAGAG	0.453000													49	70					0	0	0.000781405	0	0
NLRP8	126205	broad.mit.edu	37	19	56459306	56459306	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:56459306C>T	ENST00000291971.3	+	1	109	c.38C>T	c.(37-39)cCc>cTc	p.P13L	NLRP8_ENST00000590542.1_Missense_Mutation_p.P13L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	13						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCCCCATTCCCTTTTCATCC	0.498000													41	72					0	0	0.000781405	0	0
C6orf10	10665	broad.mit.edu	37	6	32304392	32304392	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:32304392G>A	ENST00000375015.4	-	13	582	c.382_splice	c.e13+1	p.P128_splice	C6orf10_ENST00000527965.1_Splice_Site_p.P121_splice|C6orf10_ENST00000442822.2_Splice_Site_p.P121_splice|C6orf10_ENST00000375007.4_Splice_Site_p.P142_splice|C6orf10_ENST00000447241.2_Splice_Site_p.P144_splice|C6orf10_ENST00000533191.1_Splice_Site_p.P128_splice			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	144			P -> L (in dbSNP:rs1033500).			integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGATACTTACGAATAGGGGCT	0.353000													12	26					0	0	0.000308642	0	0
ACSS3	79611	broad.mit.edu	37	12	81528708	81528708	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:81528708G>A	ENST00000548058.1	+	3	1480	c.570G>A	c.(568-570)agG>agA	p.R190R	ACSS3_ENST00000261206.3_Silent_p.R189R			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	190						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CATGTGCAAGGATAGGTGCCA	0.433000													23	22					0	0	0.000586117	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593852	156593852	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:156593852G>A	ENST00000255039.1	+	4	746	c.339G>A	c.(337-339)ctG>ctA	p.L113L		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	113	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ACGCCTCCCTGGTCATCGCGG	0.682000													9	15					0	0	0.000673444	0	0
ADAM19	8728	broad.mit.edu	37	5	156917439	156917439	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:156917439C>A	ENST00000257527.4	-	19	2197	c.2119G>T	c.(2119-2121)Gtg>Ttg	p.V707L	ADAM19_ENST00000394020.1_Missense_Mutation_p.V709L|ADAM19_ENST00000430702.2_Missense_Mutation_p.V440L|ADAM19_ENST00000517905.1_Missense_Mutation_p.V707L	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	707					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCCACCAACACTCCAGCTACC	0.512000													8	42					5.4927e-09	5.1202e-08	0.000274275	1	0
NLRP13	126204	broad.mit.edu	37	19	56416401	56416401	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:56416401C>G	ENST00000588751.1	-	8	2549	c.2525G>C	c.(2524-2526)cGa>cCa	p.R842P	NLRP13_ENST00000342929.3_Missense_Mutation_p.R842P			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	842							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAGGCACAATCGAGTTACGTG	0.522000													16	26					0	0	0.000958276	0	0
ZNF397	84307	broad.mit.edu	37	18	32825358	32825358	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:32825358C>T	ENST00000330501.7	+	4	842	c.689C>T	c.(688-690)aCa>aTa	p.T230I	ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	230					viral reproduction	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GGAAGTGCTACAGGGGAGAAA	0.438000													7	6					0	0	8.12818e-05	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181133	140181133	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140181133C>T	ENST00000522353.2	+	1	351	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F117F|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGTTTTCCATGTGGAGG	0.537000													30	94					0	0	0.001512	0	0
SAMD10	140700	broad.mit.edu	37	20	62608326	62608326	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:62608326G>A	ENST00000369886.3	-	3	617	c.443C>T	c.(442-444)aCc>aTc	p.T148I	ZNF512B_ENST00000450537.1_Intron|SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	148	SAM.									kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CACTGTACCGGTGATGGCATG	0.587000													6	25					0	0	8.12818e-05	0	0
TLR9	54106	broad.mit.edu	37	3	52256890	52256890	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:52256890C>T	ENST00000597542.1	-	9	2471	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	TLR9_ENST00000494383.1_Silent_p.T634T|TLR9_ENST00000360658.2_Missense_Mutation_p.R481Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	481					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	p.R481L(1)		endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CAGGTTGTTCCGTGACAGATC	0.617000													31	33					0	0	0.000339439	0	0
OR13A1	79290	broad.mit.edu	37	10	45799503	45799503	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:45799503G>A	ENST00000553795.1	-	4	676	c.368C>T	c.(367-369)aCg>aTg	p.T123M	OR13A1_ENST00000374401.2_Missense_Mutation_p.T123M|OR13A1_ENST00000536058.1_Missense_Mutation_p.T123M	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGCAGCCCACGTGAGGAAATA	0.597000													6	8					0	0	8.12818e-05	0	0
EVX1	2128	broad.mit.edu	37	7	27285648	27285648	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:27285648C>T	ENST00000496902.4	+	3	1314	c.828C>T	c.(826-828)caC>caT	p.H276H	EVX1_ENST00000535619.1_Silent_p.H94H|EVX1-AS_ENST00000517726.1_RNA|EVX1_ENST00000222761.3_3'UTR			P49640	EVX1_HUMAN	even-skipped homeobox 1	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						TCCCATCGCACCTGCCCCTGC	0.741000													4	11					0	0	0.000602214	0	0
MRVI1	10335	broad.mit.edu	37	11	10647940	10647940	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:10647940C>T	ENST00000547195.1	-	8	1168	c.668G>A	c.(667-669)gGg>gAg	p.G223E	MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.G306E|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000534266.2_5'UTR|MRVI1_ENST00000527509.2_Missense_Mutation_p.G223E|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.G287E|MRVI1_ENST00000421747.1_Missense_Mutation_p.G305E|MRVI1_ENST00000423302.2_Missense_Mutation_p.G314E|MRVI1_ENST00000552103.1_Missense_Mutation_p.G223E	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	287					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGCCATTTTCCCACTGCTGTT	0.562000													10	5					0	0	0.000978159	0	0
CASP3	836	broad.mit.edu	37	4	185552963	185552963	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:185552963G>A	ENST00000308394.4	-	6	701	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	CASP3_ENST00000517513.1_Missense_Mutation_p.R147C|CASP3_ENST00000523916.1_Missense_Mutation_p.R147C|CASP3_ENST00000393585.2_Missense_Mutation_p.R147C|CASP3_ENST00000393588.4_Missense_Mutation_p.R147C	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	147					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)	CTTCTACAACGATCCCCTCTG	0.363000													25	70					0	0	0.000375601	0	0
ZDBF2	57683	broad.mit.edu	37	2	207173257	207173257	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:207173257C>T	ENST00000374423.3	+	5	4391	c.4005C>T	c.(4003-4005)atC>atT	p.I1335I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1335							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTCAAATATCCCTCTTCAGT	0.383000													26	54					0	0	0.00047179	0	0
CLCN1	1180	broad.mit.edu	37	7	143039050	143039050	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:143039050C>T	ENST00000343257.2	+	15	1698	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S		NM_000083.2	NP_000074.2	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	537					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGCCGTTTCCCACACAGTCT	0.527000													13	28					0	0	0.000219431	0	0
VWA3A	146177	broad.mit.edu	37	16	22130236	22130236	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:22130236G>A	ENST00000389398.5	+	12	1100	c.1004G>A	c.(1003-1005)cGg>cAg	p.R335Q	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	335						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TACACCAGCCGGGACATGGAT	0.607000													10	24					0	0	0.00136819	0	0
LARP1	23367	broad.mit.edu	37	5	154185511	154185511	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:154185511C>T	ENST00000336314.4	+	15	2410	c.2386C>T	c.(2386-2388)Cag>Tag	p.Q796*		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	873							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCCAAGTTCCAGCATCCTTC	0.507000													26	84					0	0	0.000878237	0	0
OSGIN2	734	broad.mit.edu	37	8	90937327	90937327	+	Missense_Mutation	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:90937327C>A	ENST00000451899.2	+	6	1477	c.1217C>A	c.(1216-1218)aCt>aAt	p.T406N	OSGIN2_ENST00000297438.2_Missense_Mutation_p.T362N	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	362					germ cell development|meiosis					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			ATGATGTGTACTCAGTCATAT	0.383000													57	83					9.86064e-34	9.22546e-33	0.000781405	1	0
PREX2	80243	broad.mit.edu	37	8	69104700	69104700	+	Missense_Mutation	SNP	C	C	T	rs149428879		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:69104700C>T	ENST00000288368.4	+	37	4821	c.4544C>T	c.(4543-4545)tCg>tTg	p.S1515L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1515					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAGTTTCCTCGGAGCTGTGC	0.562000													10	10					0	0	0.00136819	0	0
LRFN2	57497	broad.mit.edu	37	6	40400396	40400396	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:40400396C>T	ENST00000338305.6	-	2	999	c.457G>A	c.(457-459)Gat>Aat	p.D153N		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	153						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGGTCCAGATCCTCCAATGTC	0.597000													18	34					0	0	0.00121646	0	0
BAI2	576	broad.mit.edu	37	1	32207322	32207322	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:32207322G>A	ENST00000373658.3	-	10	1931	c.1590C>T	c.(1588-1590)ttC>ttT	p.F530F	BAI2_ENST00000398542.1_Silent_p.F463F|BAI2_ENST00000398547.1_Silent_p.F463F|BAI2_ENST00000398556.3_Silent_p.F478F|BAI2_ENST00000440175.2_Silent_p.F172F|BAI2_ENST00000257070.4_Silent_p.F530F|BAI2_ENST00000527361.1_Silent_p.F530F|BAI2_ENST00000398538.1_Silent_p.F518F|BAI2_ENST00000373655.2_Silent_p.F530F	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	530					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACATCTCATGGAAGGCTGTGG	0.577000													4	30					0	0	0.000602214	0	0
SCGB2B2	284402	broad.mit.edu	37	19	35085114	35085114	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:35085114G>A	ENST00000601241.1	-	3	2312	c.212C>T	c.(211-213)tCc>tTc	p.S71F	SCGB2B2_ENST00000595326.1_Intron|SCGB2B2_ENST00000379204.2_Missense_Mutation_p.S71F			Q4G0G5	SCGBL_HUMAN	secretoglobin, family 2B, member 2	71						extracellular region	binding	p.S71Y(1)									TTCTGTCACGGAGACATTGGC	0.547000													24	41					0	0	0.00127121	0	0
C20orf96	140680	broad.mit.edu	37	20	264671	264671	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:264671G>A	ENST00000360321.2	-	4	377	c.239C>T	c.(238-240)cCa>cTa	p.P80L	C20orf96_ENST00000400269.3_Missense_Mutation_p.P22L|C20orf96_ENST00000382369.5_Missense_Mutation_p.P45L	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	80										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TAGTTCTCTTGGATTCTTCGG	0.537000													11	30					0	0	0.000978159	0	0
WDR60	55112	broad.mit.edu	37	7	158672385	158672385	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:158672385G>A	ENST00000407559.3	+	5	742	c.584G>A	c.(583-585)gGa>gAa	p.G195E		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	195										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTGCAGTACGGAGACAGCAAG	0.517000													20	14					0	0	0.00188189	0	0
OFCC1	266553	broad.mit.edu	37	6	9897184	9897184	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:9897184C>T	ENST00000316020.6	-	7	763	c.764G>A	c.(763-765)tGg>tAg	p.W255*	OFCC1_ENST00000472329.1_5'UTR					orofacial cleft 1 candidate 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)	11	Ovarian(93;0.0473)|Breast(50;0.201)	all_hematologic(90;0.124)				CAAGAGTATCcatggatgact	0.403000													10	16					0	0	0.000673444	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536291	108536291	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:108536291C>T	ENST00000374688.1	+	6	1354	c.644C>T	c.(643-645)tCa>tTa	p.S215L	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S269L			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	269						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GGCGTTGGGTCATTGGCCTCA	0.408000													37	24					0	0	0.000953801	0	0
ZNF876P	642280	broad.mit.edu	37	4	248180	248180	+	RNA	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:248180C>T	ENST00000356347.3	+	0	1004					NR_027481.1																						AATCCTCATCCCTTAATAAAC	0.368000													20	53					0	0	0.00152264	0	0
ZNF169	169841	broad.mit.edu	37	9	97062697	97062697	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:97062697G>A	ENST00000395395.2	+	5	947	c.857G>A	c.(856-858)gGg>gAg	p.G286E	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	286						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AAGCACTCGGGGGAGAAGCCG	0.562000													23	25					0	0	0.00047179	0	0
MYH15	22989	broad.mit.edu	37	3	108149770	108149770	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:108149770C>T	ENST00000273353.3	-	27	3338		c.e27-1			NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15							myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TAATTCTTTTCTGTTTAGAAA	0.299000													21	23					0	0	0.00152264	0	0
NUP54	53371	broad.mit.edu	37	4	77065565	77065565	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:77065565G>A	ENST00000264883.3	-	2	269	c.129C>T	c.(127-129)gcC>gcT	p.A43A	NUP54_ENST00000458189.2_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Silent_p.A43A|NUP54_ENST00000342467.6_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	43	9 X 2 AA repeats of F-G.|Gly-rich.|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTTAGTTGGGGCAGAAAAGC	0.358000													22	44					0	0	0.000295444	0	0
OR11L1	391189	broad.mit.edu	37	1	248004429	248004429	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:248004429G>A	ENST00000355784.2	-	1	825	c.770C>T	c.(769-771)tCc>tTc	p.S257F		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CACATACATGGAGATCATGGT	0.498000													23	50					0	0	0.000375601	0	0
MAPT	4137	broad.mit.edu	37	17	44101502	44101502	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:44101502G>A	ENST00000344290.5	+	15	2618	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	MAPT_ENST00000415613.2_Missense_Mutation_p.E766K|MAPT_ENST00000347967.5_Missense_Mutation_p.E306K|MAPT_ENST00000571987.1_Missense_Mutation_p.E748K|MAPT_ENST00000351559.5_Missense_Mutation_p.E431K|MAPT_ENST00000340799.5_Missense_Mutation_p.E402K|MAPT_ENST00000334239.8_Missense_Mutation_p.E342K|MAPT_ENST00000262410.5_Missense_Mutation_p.E748K|MAPT_ENST00000574436.1_Missense_Mutation_p.E431K|MAPT_ENST00000576518.1_Missense_Mutation_p.E331K|MAPT_ENST00000420682.2_Missense_Mutation_p.E402K|MAPT_ENST00000535772.1_Missense_Mutation_p.E400K|MAPT_ENST00000446361.3_Missense_Mutation_p.E373K|MAPT_ENST00000431008.3_Missense_Mutation_p.E400K	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	748					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GCTAGCTGACGAGGTGTCTGC	0.572000													13	33					0	0	0.000219431	0	0
PCLO	27445	broad.mit.edu	37	7	82457235	82457235	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:82457235G>A	ENST00000423517.2	-	17	14634	c.14297C>T	c.(14296-14298)cCt>cTt	p.P4766L	PCLO_ENST00000426442.2_5'UTR|PCLO_ENST00000333891.8_Missense_Mutation_p.P4766L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4628					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTCCACTCAGGATTAAGACT	0.333000													9	15					0	0	0.000274275	0	0
FBLN7	129804	broad.mit.edu	37	2	112942804	112942804	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:112942804C>T	ENST00000331203.2	+	7	1106	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	FBLN7_ENST00000409450.3_Missense_Mutation_p.P233S|FBLN7_ENST00000409903.1_Missense_Mutation_p.P279S|FBLN7_ENST00000409667.3_Missense_Mutation_p.P145S	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	279	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGCCTGCAGCCGGTGTGCCC	0.577000													21	44					0	0	0.000375601	0	0
DPYSL2	1808	broad.mit.edu	37	8	26505265	26505265	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:26505265C>T	ENST00000311151.5	+	11	1642	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	DPYSL2_ENST00000523027.1_Silent_p.V374V|DPYSL2_ENST00000521913.1_Silent_p.V374V	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	410					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		CCGACCTGGTCATCTGGGACC	0.527000													23	41					0	0	0.000586117	0	0
LGR5	8549	broad.mit.edu	37	12	71946885	71946885	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:71946885C>T	ENST00000266674.5	+	5	772	c.461C>T	c.(460-462)cCc>cTc	p.P154L	LGR5_ENST00000540815.2_Missense_Mutation_p.P154L|LGR5_ENST00000536515.1_Intron			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	154						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AGCTATGTGCCCCCAAGCTGT	0.498000													79	63					0	0	0.000781405	0	0
EBF2	64641	broad.mit.edu	37	8	25708165	25708165	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:25708165C>T	ENST00000520164.1	-	15	2178	c.1641G>A	c.(1639-1641)agG>agA	p.R547R	EBF2_ENST00000535548.1_3'UTR|EBF2_ENST00000408929.3_Silent_p.R399R	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	547					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGCCTTGGGGCCTGATGACAG	0.522000													31	69					0	0	0.00178596	0	0
OR2W5	441932	broad.mit.edu	37	1	247654597	247654597	+	RNA	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:247654597C>A	ENST00000522351.1	+	0	228							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCAGGCTCCACACACCCATGT	0.498000													16	30					1.15088e-07	1.07088e-06	0.000422831	1	0
NR3C2	4306	broad.mit.edu	37	4	149357508	149357508	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:149357508C>T	ENST00000355292.3	-	2	867	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	NR3C2_ENST00000358102.3_Missense_Mutation_p.G169R|NR3C2_ENST00000344721.4_Missense_Mutation_p.G169R|NR3C2_ENST00000512865.1_Missense_Mutation_p.G169R|NR3C2_ENST00000342437.4_Missense_Mutation_p.G169R|NR3C2_ENST00000511528.1_Missense_Mutation_p.G169R			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	169	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ACGGAGCTCCCAGAGTCAGAC	0.478000													41	70					0	0	0.000680045	0	0
CACNA1E	777	broad.mit.edu	37	1	181701796	181701796	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:181701796G>A	ENST00000526775.1	+	19	2682	c.2517G>A	c.(2515-2517)ggG>ggA	p.G839G	CACNA1E_ENST00000360108.3_Silent_p.G839G|CACNA1E_ENST00000358338.5_Silent_p.G790G|CACNA1E_ENST00000367567.4_Silent_p.G465G|CACNA1E_ENST00000357570.5_Silent_p.G809G|CACNA1E_ENST00000367573.2_Silent_p.G858G|CACNA1E_ENST00000367570.1_Silent_p.G858G	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	858					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						CCCTCAAGGGGGATGGAGGGG	0.672000													4	7					0	0	0.00024832	0	0
MAP7D2	256714	broad.mit.edu	37	X	20062506	20062506	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:20062506G>A	ENST00000379651.3	-	6	750	c.732C>T	c.(730-732)gcC>gcT	p.A244A	MAP7D2_ENST00000379643.5_Silent_p.A285A|MAP7D2_ENST00000543767.1_Silent_p.A129A|MAP7D2_ENST00000443379.3_Silent_p.A199A|MAP7D2_ENST00000452324.3_Silent_p.A192A	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	244										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTCCTGAAAGGGCTTCTTTCC	0.468000													43	17					0	0	0.000781405	0	0
SLC38A4	55089	broad.mit.edu	37	12	47186851	47186851	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:47186851C>T	ENST00000447411.1	-	2	210	c.4G>A	c.(4-6)Gat>Aat	p.D2N	SLC38A4_ENST00000266579.4_Missense_Mutation_p.D2N	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	2					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TCCATGGGATCCATTTGAGCT	0.433000													33	28					0	0	0.000953801	0	0
AOX1	316	broad.mit.edu	37	2	201507515	201507515	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:201507515C>T	ENST00000374700.2	+	25	3079	c.2838C>T	c.(2836-2838)tcC>tcT	p.S946S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	946					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGGACTATCCCCTGAGAAGG	0.488000													20	33					0	0	0.00188189	0	0
MYBL2	4605	broad.mit.edu	37	20	42331389	42331389	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:42331389G>A	ENST00000217026.4	+	8	1338	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D	MYBL2_ENST00000396863.4_Missense_Mutation_p.G380D	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	404						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TCTGGCATTGGCACACCGCCC	0.622000													5	14					0	0	0.000602214	0	0
GRM3	2913	broad.mit.edu	37	7	86415993	86415993	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:86415993C>T	ENST00000361669.2	+	3	1984	c.885C>T	c.(883-885)ttC>ttT	p.F295F	GRM3_ENST00000394720.2_Silent_p.F293F|GRM3_ENST00000439827.1_Silent_p.F295F|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Silent_p.F167F	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	295					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ATGCCTCCTTCACCTGGGTGG	0.677000													8	26					0	0	0.000442599	0	0
EXD1	161829	broad.mit.edu	37	15	41483761	41483761	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:41483761G>A	ENST00000314992.5	-	8	759	c.569C>T	c.(568-570)tCc>tTc	p.S190F	EXD1_ENST00000458580.2_Missense_Mutation_p.S248F	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	190					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						CGTTTCCATGGAAAACTGAAG	0.378000													18	17					0	0	0.000295444	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531314	140531314	+	Silent	SNP	G	G	A	rs139574362	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140531314G>A	ENST00000231136.1	+	1	1476	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	PCDHB6_ENST00000543635.1_Silent_p.Q356Q	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		492	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)			TGCCGCCCCAGGACCCGCACC	0.652000													16	54					0	0	0.000958276	0	0
KL	9365	broad.mit.edu	37	13	33635751	33635751	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:33635751G>A	ENST00000380099.3	+	4	2543	c.2535G>A	c.(2533-2535)gtG>gtA	p.V845V	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	845	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAGTCAGGTGGCGGTAGTGC	0.483000													24	30					0	0	0.000586117	0	0
SLC12A3	6559	broad.mit.edu	37	16	56920313	56920313	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:56920313C>T	ENST00000438926.2	+	16	1992	c.1963C>T	c.(1963-1965)Cgc>Tgc	p.R655C	SLC12A3_ENST00000262502.5_Missense_Mutation_p.R654C|SLC12A3_ENST00000566786.1_Missense_Mutation_p.R654C|SLC12A3_ENST00000563236.1_Missense_Mutation_p.R655C	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330.2|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	655			R -> C (in GS).|R -> H (in GS).|R -> L (in GS).		sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CCCCAACTTCCGCCCGGCCCT	0.672000													6	30					0	0	0.00116845	0	0
KRT12	3859	broad.mit.edu	37	17	39022420	39022420	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:39022420C>T	ENST00000251643.4	-	2	660	c.637G>A	c.(637-639)Gac>Aac	p.D213N		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	213	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCCTGAAGTCCTCAGCAGCT	0.463000													8	42					0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21230295	21230295	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:21230295C>T	ENST00000233242.1	-	26	9572	c.9445G>A	c.(9445-9447)Gat>Aat	p.D3149N		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3149					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGAGAGAAATCTTTCAGTGGA	0.333000													214	323					0	0	0.000781405	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995465	57995465	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:57995465A>G	ENST00000316770.2	-	1	925	c.883T>C	c.(883-885)Tac>Cac	p.Y295H		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CTAAGGCTGTAAAGCAAAGGG	0.552000													38	29					0	0	0.000953801	0	0
PVRL4	81607	broad.mit.edu	37	1	161047265	161047265	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:161047265G>A	ENST00000368012.3	-	3	1010	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	236	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGATGTGGGTGATCCTTTGGT	0.582000													49	120					0	0	0.000781405	0	0
ADH1B	125	broad.mit.edu	37	4	100235150	100235150	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:100235150C>T	ENST00000305046.8	-	6	723	c.656G>A	c.(655-657)aGa>aAa	p.R219K	ADH1B_ENST00000394887.3_Missense_Mutation_p.R179K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	219					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CGCAATGATTCTGGCTGCTCC	0.517000													77	173					0	0	0.000781405	0	0
CHIT1	1118	broad.mit.edu	37	1	203188447	203188447	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:203188447C>T	ENST00000367229.1	-	9	960	c.926G>A	c.(925-927)tGg>tAg	p.W309*	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.W290*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.W300*	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	309					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						GGCCCCCTTCCAGGAGCAGAC	0.572000													38	50					0	0	0.000953801	0	0
STS	412	broad.mit.edu	37	X	7243496	7243496	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:7243496C>T	ENST00000217961.4	+	8	1433	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	405					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	GGACATATTTCCTACAGTAGC	0.542000									Ichthyosis				23	15					0	0	0.000878237	0	0
EDIL3	10085	broad.mit.edu	37	5	83362369	83362369	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:83362369C>T	ENST00000296591.5	-	7	1126	c.708G>A	c.(706-708)agG>agA	p.R236R	EDIL3_ENST00000380138.3_Silent_p.R226R|EDIL3_ENST00000510271.1_5'UTR	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	236	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GGCTTCCAATCCTCTTGGCTC	0.388000													30	34					0	0	0.000409698	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507480	74507480	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:74507480G>A	ENST00000354431.4	-	7	1326	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S	LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P379S	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	379										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GGATATGCAGGAAAAAAATGT	0.353000													11	72					0	0	0.000308642	0	0
TPTE	7179	broad.mit.edu	37	21	10971323	10971323	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:10971323C>T	ENST00000298232.7	-	5	401	c.34G>A	c.(34-36)Gga>Aga	p.G12R	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G12R|TPTE_ENST00000342420.5_Missense_Mutation_p.G12R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	12					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATGATGACTCCCGCCAGGTCA	0.448000													10	51					0	0	0.00185496	0	0
BTBD7	55727	broad.mit.edu	37	14	93730210	93730210	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:93730210G>A	ENST00000334746.5	-	4	1599	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.S80F	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	431										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CATGACCTGGGAAAATTCCTC	0.418000													37	28					0	0	0.00111076	0	0
SH2D4A	63898	broad.mit.edu	37	8	19250940	19250940	+	Missense_Mutation	SNP	C	C	T	rs116257653	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:19250940C>T	ENST00000265807.3	+	9	1571	c.1160C>T	c.(1159-1161)tCg>tTg	p.S387L	SH2D4A_ENST00000519207.1_Missense_Mutation_p.S387L|SH2D4A_ENST00000518040.1_Missense_Mutation_p.S342L	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	387	SH2.					cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		TCCTATCTGTCGGAGGACGGC	0.532000													43	76					0	0	0.000509022	0	0
CTC1	80169	broad.mit.edu	37	17	8132659	8132659	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:8132659G>A	ENST00000315684.8	-	19	3124	c.3117C>T	c.(3115-3117)ctC>ctT	p.L1039L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	1039					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						ACACCCAGAAGAGCTGAAGGC	0.567000													29	44					0	0	0.00178596	0	0
FECH	2235	broad.mit.edu	37	18	55218048	55218048	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:55218048G>A	ENST00000262093.5	-	11	1319	c.1168C>T	c.(1168-1170)Cag>Tag	p.Q390*	FECH_ENST00000382873.3_Nonsense_Mutation_p.Q396*	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	390					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TCGTTTGACTGGATGTGTGAA	0.562000													12	34					0	0	0.000219431	0	0
CCDC73	493860	broad.mit.edu	37	11	32636437	32636437	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:32636437G>A	ENST00000335185.5	-	16	1470	c.1427C>T	c.(1426-1428)tCt>tTt	p.S476F		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	476										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTCATCCTGAGAAACAACAGT	0.333000													27	26					0	0	0.00127121	0	0
TTN	7273	broad.mit.edu	37	2	179454318	179454318	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179454318A>G	ENST00000589042.1	-	304	62358	c.62134T>C	c.(62134-62136)Tcc>Ccc	p.S20712P	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S11647P|TTN_ENST00000342175.6_Missense_Mutation_p.S11839P|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S19071P|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S18144P|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11772P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19071							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)			CAGTCATCGGAGCCCTTAAGC	0.418000													44	67					0	0	0.000589545	0	0
TLR5	7100	broad.mit.edu	37	1	223285632	223285632	+	Missense_Mutation	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:223285632T>C	ENST00000540964.1	-	4	1203	c.742A>G	c.(742-744)Aat>Gat	p.N248D	TLR5_ENST00000342210.6_Missense_Mutation_p.N248D			O60602	TLR5_HUMAN	toll-like receptor 5	248					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	p.N248D(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGATGGCATTGCTAAAGTTT	0.473000													24	95					0	0	0.000720815	0	0
ASNA1	439	broad.mit.edu	37	19	12858889	12858889	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:12858889G>A	ENST00000591090.1	+	8	1120	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ASNA1_ENST00000357332.3_Missense_Mutation_p.E340K			O43681	ASNA_HUMAN	arsA arsenite transporter, ATP-binding, homolog 1 (bacterial)	340					response to arsenic-containing substance	endoplasmic reticulum|nucleolus|soluble fraction	arsenite-transporting ATPase activity|ATP binding|metal ion binding			endometrium(1)|lung(6)|ovary(3)	10					Adenosine triphosphate(DB00171)	CCTCCTCCTGGAGCCCTACAA	0.637000													12	16					0	0	0.00136819	0	0
DHX57	90957	broad.mit.edu	37	2	39050179	39050179	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:39050179G>A	ENST00000295373.6	-	17	3373	c.3247C>T	c.(3247-3249)Cct>Tct	p.P1083S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1083							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTGAGAGCAGGATCCAAACAG	0.443000													11	14					0	0	0.000673444	0	0
MYO15A	51168	broad.mit.edu	37	17	18023419	18023419	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:18023419G>A	ENST00000205890.5	+	2	1643	c.1305G>A	c.(1303-1305)ctG>ctA	p.L435L		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	435	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGCCGAGCTGGAGGAACCAG	0.667000													15	19					0	0	0.00074312	0	0
LILRP2	79166	broad.mit.edu	37	19	55221524	55221524	+	RNA	SNP	A	A	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:55221524A>C	ENST00000413439.1	+	0	1304																											GGCCAACTTCACCCTGGGCCC	0.642000													12	15					0	0	0.00185496	0	0
C1orf226	400793	broad.mit.edu	37	1	162353282	162353282	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:162353282G>A	ENST00000458626.2	+	2	800	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	C1orf226_ENST00000426197.2_Missense_Mutation_p.E253K	NM_001085375.1	NP_001078844.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	210										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						TAGCCAGGACGAATCCAAGCT	0.537000													6	6					0	0	0.000274275	0	0
DNAH8	1769	broad.mit.edu	37	6	38875892	38875892	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:38875892C>T	ENST00000359357.3	+	62	9112	c.8858C>T	c.(8857-8859)tCt>tTt	p.S2953F	DNAH8_ENST00000449981.2_Missense_Mutation_p.S3170F|DNAH8_ENST00000441566.1_Missense_Mutation_p.S2917F					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCTGCTTTTCTCCAGTAAGT	0.328000													20	25					0	0	0.00121646	0	0
SLC26A5	375611	broad.mit.edu	37	7	103048315	103048315	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:103048315G>A	ENST00000306312.3	-	8	1132	c.871C>T	c.(871-873)Cct>Tct	p.P291S	SLC26A5_ENST00000393723.1_Missense_Mutation_p.P291S|SLC26A5_ENST00000393729.1_Missense_Mutation_p.P254S|SLC26A5_ENST00000393730.1_Missense_Mutation_p.P291S|SLC26A5_ENST00000393735.2_Missense_Mutation_p.P291S|SLC26A5_ENST00000356767.4_Missense_Mutation_p.P291S|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Missense_Mutation_p.P291S|SLC26A5_ENST00000432958.2_Missense_Mutation_p.P291S|SLC26A5_ENST00000393727.1_Missense_Mutation_p.P291S	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	291					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AACTCTAAAGGAATAGGCGCC	0.453000													16	49					0	0	0.000422831	0	0
DTNA	1837	broad.mit.edu	37	18	32391985	32391985	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:32391985C>T	ENST00000283365.9	+	7	862	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	DTNA_ENST00000597599.1_Missense_Mutation_p.L171F|DTNA_ENST00000598334.1_Missense_Mutation_p.L171F|DTNA_ENST00000269191.6_Missense_Mutation_p.L171F|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000554864.3_Missense_Mutation_p.L171F|DTNA_ENST00000399113.3_Missense_Mutation_p.L171F|DTNA_ENST00000269190.7_Missense_Mutation_p.L171F|DTNA_ENST00000444659.1_Missense_Mutation_p.L171F|DTNA_ENST00000598142.1_Missense_Mutation_p.L171F|DTNA_ENST00000595022.1_Missense_Mutation_p.L171F|DTNA_ENST00000348997.5_Missense_Mutation_p.L171F|DTNA_ENST00000598774.1_Missense_Mutation_p.L171F|DTNA_ENST00000596745.1_Missense_Mutation_p.L171F|DTNA_ENST00000399121.5_Missense_Mutation_p.L171F|DTNA_ENST00000315456.6_Missense_Mutation_p.L171F	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	171	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						TGACCAATTCCTTCGGGAAGT	0.418000													20	39					0	0	0.000295444	0	0
LRRC4B	94030	broad.mit.edu	37	19	51021119	51021119	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:51021119G>A	ENST00000599957.1	-	3	2048	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	LRRC4B_ENST00000389201.3_Silent_p.I617I			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	617						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCACGTTGATGATCTCCACGG	0.706000													9	16					0	0	0.000673444	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18808853	18808853	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:18808853G>A	ENST00000400664.1	+	1	1430	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	460						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)		GGTGATGAGCGAAAACTACCT	0.642000													27	31					0	0	0.000878237	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202915670	202915670	+	Silent	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:202915670A>G	ENST00000340990.5	-	4	625	c.327T>C	c.(325-327)taT>taC	p.Y109Y	ADIPOR1_ENST00000367254.3_Silent_p.Y109Y|ADIPOR1_ENST00000436244.1_Silent_p.Y109Y	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	109					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTAGCAGATAGTCGTTGT	0.512000													14	59					0	0	0.000219431	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489270	74489270	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:74489270G>A	ENST00000394019.2	-	11	1202	c.805C>T	c.(805-807)Cgt>Tgt	p.R269C	SLC4A5_ENST00000359484.4_Missense_Mutation_p.R205C|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R269C|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R205C|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R269C|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R269C|SLC4A5_ENST00000423644.1_Missense_Mutation_p.R269C|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R269C	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	269						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TCACACAGACGTCCGTAATTT	0.602000													5	14					0	0	0.000602214	0	0
FFAR4	338557	broad.mit.edu	37	10	95347054	95347054	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:95347054G>A	ENST00000371483.4	+	4	878	c.822G>A	c.(820-822)caG>caA	p.Q274Q	FFAR4_ENST00000371481.4_Silent_p.Q258Q|FFAR4_ENST00000604414.1_Intron	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		TGTCCCAGCAGGACTTCCGGC	0.547000													10	40					0	0	0.000673444	0	0
HGF	3082	broad.mit.edu	37	7	81381541	81381541	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:81381541C>T	ENST00000222390.5	-	5	746	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	HGF_ENST00000444829.2_Missense_Mutation_p.E174K|HGF_ENST00000423064.2_Missense_Mutation_p.E174K|HGF_ENST00000453411.1_Missense_Mutation_p.E169K|HGF_ENST00000457544.2_Missense_Mutation_p.E169K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	174	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGTAGTTTTCCTGTAGGTCT	0.418000													21	36					0	0	0.000375601	0	0
VPS13D	55187	broad.mit.edu	37	1	12368617	12368617	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:12368617C>T	ENST00000358136.3	+	27	6699	c.6569C>T	c.(6568-6570)tCc>tTc	p.S2190F	VPS13D_ENST00000356315.4_Missense_Mutation_p.S2190F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2190					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATCTTCCCTTCCTATTTTGTG	0.463000													28	108					0	0	0.000409698	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400182	47400182	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:47400182C>T	ENST00000457840.2	-	6	676	c.373G>A	c.(373-375)Gga>Aga	p.G125R	CYP4A11_ENST00000475477.1_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.L280L|CYP4A11_ENST00000310638.4_Silent_p.L280L|CYP4A11_ENST00000371904.4_Silent_p.L281L			Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	0					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGATCTTCTCCAGCTCCCCCT	0.517000													20	44					0	0	0.00127121	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101811446	101811446	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:101811446C>T	ENST00000506729.1	-	4	1025	c.854G>A	c.(853-855)gGa>gAa	p.G285E	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G223E|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G223E|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G285E|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G223E			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	285						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TAGTGGTGCTCCTAGCACATA	0.328000													19	109					0	0	0.00188189	0	0
MYOCD	93649	broad.mit.edu	37	17	12626325	12626325	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:12626325G>A	ENST00000425538.1	+	5	615	c.415_splice	c.e5+1	p.G139_splice	MYOCD_ENST00000343344.4_Splice_Site_p.G139_splice|MYOCD_ENST00000395988.1_Splice_Site_p.G43_splice	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	139					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGCCATAAAAGGTAGTTAGAA	0.478000													27	50					0	0	0.000339439	0	0
FRS2	10818	broad.mit.edu	37	12	69965945	69965945	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:69965945C>T	ENST00000299293.2	+	9	970	c.460C>T	c.(460-462)Ccc>Tcc	p.P154S	FRS2_ENST00000550389.1_Missense_Mutation_p.P154S|FRS2_ENST00000549921.1_Missense_Mutation_p.P154S|FRS2_ENST00000397997.2_Missense_Mutation_p.P154S	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	154					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TCCCCGATATCCCTCATTTGG	0.478000													29	19					0	0	0.00127121	0	0
EFCAB6	64800	broad.mit.edu	37	22	44112819	44112819	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:44112819G>A	ENST00000262726.7	-	9	1044	c.791C>T	c.(790-792)tCc>tTc	p.S264F	EFCAB6_ENST00000356087.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000358439.4_Missense_Mutation_p.S158F|EFCAB6_ENST00000396231.2_Missense_Mutation_p.S112F	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTTTTTGGAATTTTTGGC	0.353000													15	42					0	0	0.000422831	0	0
ITGAM	3684	broad.mit.edu	37	16	31336917	31336917	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:31336917C>T	ENST00000544665.3	+	21	2676	c.2605C>T	c.(2605-2607)Cac>Tac	p.H869Y	ITGAM_ENST00000287497.8_Missense_Mutation_p.H868Y	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	868					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAGCATAAACCACCCCATCTT	0.542000													11	15					0	0	0.000978159	0	0
CARD11	84433	broad.mit.edu	37	7	2951870	2951870	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:2951870C>T	ENST00000396946.4	-	23	3483	c.3080G>A	c.(3079-3081)cGa>cAa	p.R1027Q		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1027	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTTCTTCTCTCGGGAGTAGAT	0.592000			Mis		DLBCL								9	33					0	0	0.000274275	0	0
C1orf141	400757	broad.mit.edu	37	1	67559025	67559025	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:67559025C>T	ENST00000371007.2	-	8	975	c.866G>A	c.(865-867)gGc>gAc	p.G289D	C1orf141_ENST00000371006.1_Missense_Mutation_p.G289D|C1orf141_ENST00000544837.1_Missense_Mutation_p.G289D	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	289										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						AGTTGTGTGGCCCGCTTTAAA	0.328000													23	83					0	0	0.000586117	0	0
SERPINA13P	388007	broad.mit.edu	37	14	95109969	95109969	+	RNA	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:95109969G>A	ENST00000469935.1	+	0	1006					NR_015340.1																						ACCACGCTGGGAACACCACCA	0.582000													12	7					0	0	0.00185496	0	0
ADH1A	124	broad.mit.edu	37	4	100205881	100205881	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:100205881C>T	ENST00000209668.2	-	4	452	c.339G>A	c.(337-339)ttG>ttA	p.L113L	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	113					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACTCGTTTTTCAAGCAGTAGT	0.433000													16	44					0	0	0.000566183	0	0
BAZ2B	29994	broad.mit.edu	37	2	160193466	160193466	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:160193466G>A	ENST00000392783.2	-	33	6278	c.5783C>T	c.(5782-5784)tCa>tTa	p.S1928L	BAZ2B_ENST00000343439.5_Missense_Mutation_p.S1828L|BAZ2B_ENST00000355831.2_Missense_Mutation_p.S1894L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.S1892L	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1928					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTCATAATTGATTTTTCCCA	0.358000													9	42					0	0	0.000274275	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203025	140203025	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140203025G>A	ENST00000529859.1	+	1	1665	c.1665G>A	c.(1663-1665)ctG>ctA	p.L555L	PCDHA5_ENST00000529619.1_Silent_p.L555L|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.L555L|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCGTGCTGGACGAGAACG	0.706000													24	38					0	0	0.00178596	0	0
CPED1	79974	broad.mit.edu	37	7	120907287	120907287	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:120907287C>T	ENST00000310396.5	+	21	3119	c.2652C>T	c.(2650-2652)atC>atT	p.I884I		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		TACTCAATATCCTAGTGATCA	0.318000													4	21					0	0	0.000602214	0	0
ZNF235	9310	broad.mit.edu	37	19	44792215	44792215	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:44792215G>A	ENST00000291182.4	-	5	1475	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				ACATTTGTATGGTTTTTCTTC	0.388000													16	55					0	0	0.00074312	0	0
C2orf62	375307	broad.mit.edu	37	2	219229428	219229428	+	Silent	SNP	G	G	A	rs148292950	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:219229428G>A	ENST00000289388.3	+	7	737	c.708G>A	c.(706-708)gcG>gcA	p.A236A	C2orf62_ENST00000481940.1_Intron	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	236										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTCCACGCGGAGGAGGGCA	0.592000													12	34					0	0	0.000978159	0	0
LCT	3938	broad.mit.edu	37	2	136570035	136570035	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:136570035C>T	ENST00000264162.2	-	7	2209	c.2199G>A	c.(2197-2199)agG>agA	p.R733R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	733	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCAACAGCCTCCTTATCCCCC	0.502000													11	39					0	0	0.000978159	0	0
KRT73	319101	broad.mit.edu	37	12	53002213	53002213	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:53002213C>T	ENST00000305748.3	-	9	1424	c.1390G>A	c.(1390-1392)Ggg>Agg	p.G464R	RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	464	Tail.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCATCCCGGCCATGGAG	0.622000													10	7					0	0	0.000673444	0	0
METTL10	399818	broad.mit.edu	37	10	126454046	126454046	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:126454046G>A	ENST00000494792.1	-	5	424	c.425C>T	c.(424-426)tCt>tTt	p.S142F	METTL10_ENST00000368836.2_Silent_p.L177L																							ACACCCTGGAGAGAGATTTCA	0.363000													21	63					0	0	0.00152264	0	0
PLK1	5347	broad.mit.edu	37	16	23700835	23700835	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:23700835C>T	ENST00000300093.4	+	9	1557	c.1446C>T	c.(1444-1446)ttC>ttT	p.F482F		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	482					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		TTAAATATTTCCGCAATTACA	0.552000													18	43					0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179425768	179425768	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179425768C>T	ENST00000589042.1	-	326	85315	c.85091G>A	c.(85090-85092)cGa>cAa	p.R28364Q	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R19299Q|TTN_ENST00000342175.6_Missense_Mutation_p.R19491Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R26723Q|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25796Q|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19424Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26723	Fibronectin type-III 106.						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)			AATAACGTCTCGGAACTTGAC	0.448000													72	111					0	0	0.000781405	0	0
OR8B2	26595	broad.mit.edu	37	11	124252578	124252578	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:124252578A>T	ENST00000375013.2	-	1	680	c.662T>A	c.(661-663)aTt>aAt	p.I221N		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GCTAGTGACAATGAAAACATA	0.418000													46	52					0	0	0.000781405	0	0
RNPEP	6051	broad.mit.edu	37	1	201972397	201972397	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:201972397G>A	ENST00000295640.4	+	9	1502	c.1459G>A	c.(1459-1461)Ggc>Agc	p.G487S	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Missense_Mutation_p.G448S|RP11-465N4.4_ENST00000419190.1_RNA	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	487					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAATACCCCCGGCTGGCCCCC	0.547000													12	24					0	0	0.00136819	0	0
HDLBP	3069	broad.mit.edu	37	2	242203964	242203964	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:242203964G>A	ENST00000391975.1	-	4	360	c.133C>T	c.(133-135)Cct>Tct	p.P45S	HDLBP_ENST00000391976.2_Missense_Mutation_p.P45S|HDLBP_ENST00000427183.2_Missense_Mutation_p.P81S|HDLBP_ENST00000310931.4_Missense_Mutation_p.P45S	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	45					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGAAGTGGAGGGAAGGCATCC	0.517000													78	85					0	0	0.000781405	0	0
PDYN	5173	broad.mit.edu	37	20	1961292	1961292	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:1961292C>T	ENST00000217305.2	-	4	667	c.442G>A	c.(442-444)Gat>Aat	p.D148N	PDYN_ENST00000540134.1_Missense_Mutation_p.D148N|PDYN_ENST00000539905.1_Missense_Mutation_p.D148N|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	148					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGCTGGGCATCCCTCATCAGC	0.557000													11	32					0	0	0.000673444	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188595	140188595	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140188595C>T	ENST00000530339.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.S608L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S608L	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTACGAGCTG	0.677000													17	34					0	0	0.00074312	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71187172	71187172	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:71187172C>T	ENST00000234396.4	+	6	622	c.549C>T	c.(547-549)atC>atT	p.I183I	AC007040.11_ENST00000606025.1_Intron|ATP6V1B1_ENST00000412314.1_Silent_p.I183I	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	183					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCCAGAAGATCCCCATCTTCT	0.627000													7	30					0	0	8.12818e-05	0	0
SCAND3	114821	broad.mit.edu	37	6	28540105	28540105	+	Silent	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:28540105T>C	ENST00000452236.2	-	4	4178	c.3561A>G	c.(3559-3561)gaA>gaG	p.E1187E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1187					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						attcaaaacattctaacaaat	0.279000													10	9					0	0	0.000442599	0	0
CACNA1B	774	broad.mit.edu	37	9	140941478	140941478	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:140941478G>A	ENST00000277549.5	+	22	3681	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K	CACNA1B_ENST00000545473.1_3'UTR|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1179K|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1179K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1179K|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1180K|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1180K			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1179					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GACTCGCCCAGGAACAACGTG	0.672000													4	1					0	0	0.00024832	0	0
PTPN14	5784	broad.mit.edu	37	1	214557829	214557829	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:214557829G>A	ENST00000366956.5	-	13	1563	c.1369C>T	c.(1369-1371)Ctg>Ttg	p.L457L	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	457					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCTGTATGCAGGATCCCCCTC	0.562000													81	115					0	0	0.000781405	0	0
ALG13	79868	broad.mit.edu	37	X	110951568	110951568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:110951568C>T	ENST00000394780.3	+	4	709	c.697C>T	c.(697-699)Cga>Tga	p.R233*	ALG13_ENST00000251943.4_Nonsense_Mutation_p.R129*|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	233	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AGGGCTGTTTCGAAAGCTGAC	0.443000													63	28					0	0	0.000781405	0	0
TBC1D21	161514	broad.mit.edu	37	15	74180852	74180852	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:74180852G>A	ENST00000300504.2	+	10	1059	c.976G>A	c.(976-978)Gat>Aat	p.D326N	TBC1D21_ENST00000535547.2_Missense_Mutation_p.D290N|TBC1D21_ENST00000562056.1_Missense_Mutation_p.D289N	NM_153356.1	NP_699187.1	Q8IYX1	TBC21_HUMAN	TBC1 domain family, member 21	326						intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						CATCCAGAAGGATGTAAGTTG	0.562000													9	16					0	0	0.000673444	0	0
OR1L6	392390	broad.mit.edu	37	9	125512978	125512978	+	Silent	SNP	C	C	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:125512978C>G	ENST00000373684.1	+	1	960	c.960C>G	c.(958-960)ccC>ccG	p.P320P	OR1L6_ENST00000304720.2_Silent_p.P284P			Q8NGR2	OR1L6_HUMAN	olfactory receptor, family 1, subfamily L, member 6	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						TAGTGACACCCATGCTGAACC	0.418000													3	13					0	0	0.00024832	0	0
USP10	9100	broad.mit.edu	37	16	84801964	84801964	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:84801964G>A	ENST00000219473.7	+	11	2111	c.1998_splice	c.e11+1	p.E666_splice	USP10_ENST00000570191.1_Splice_Site_p.E670_splice	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	666					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CCAAACAAGAGGTATGTTCAC	0.433000													6	9					0	0	8.12818e-05	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740765	37740765	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:37740765C>T	ENST00000539465.1	+	15	2833	c.2240C>T	c.(2239-2241)cCc>cTc	p.P747L	FRMPD1_ENST00000377765.3_Missense_Mutation_p.P747L|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P616L|FRMPD1_ENST00000536622.1_Missense_Mutation_p.P569L			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	747						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GAGGCCCAGCCCAGTTCCATG	0.637000													5	6					0	0	0.000602214	0	0
DSC2	1824	broad.mit.edu	37	18	28648157	28648157	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:28648157C>T	ENST00000280904.6	-	16	2973	c.2530G>A	c.(2530-2532)Gat>Aat	p.D844N	DSC2_ENST00000251081.6_3'UTR	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	844					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGATTTTCATCTTGATTACAC	0.358000													24	43					0	0	0.00178596	0	0
RIMS1	22999	broad.mit.edu	37	6	72968727	72968727	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:72968727C>T	ENST00000264839.7	+	18	2966	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	RIMS1_ENST00000348717.5_Missense_Mutation_p.S988F|RIMS1_ENST00000522291.1_Missense_Mutation_p.S988F|RIMS1_ENST00000401910.3_Missense_Mutation_p.S462F|RIMS1_ENST00000521978.1_Missense_Mutation_p.S989F|RIMS1_ENST00000520567.1_Missense_Mutation_p.S988F|RIMS1_ENST00000518273.1_Missense_Mutation_p.S989F|RIMS1_ENST00000517960.1_Missense_Mutation_p.S988F|RIMS1_ENST00000517827.1_Missense_Mutation_p.S448F|RIMS1_ENST00000538414.1_5'UTR|RIMS1_ENST00000491071.2_Missense_Mutation_p.S989F|RIMS1_ENST00000523963.1_Missense_Mutation_p.S463F|RIMS1_ENST00000425662.2_Missense_Mutation_p.S382F			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	989					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AGGTCACGTTCTCCAACCAGA	0.383000													36	69					0	0	0.000814825	0	0
SEPP1	6414	broad.mit.edu	37	5	42807042	42807042	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:42807042C>G	ENST00000514985.1	-	3	628	c.372G>C	c.(370-372)tgG>tgC	p.W124C	SEPP1_ENST00000509276.1_Intron|SEPP1_ENST00000507920.1_Intron|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000506577.1_Missense_Mutation_p.W124C|SEPP1_ENST00000511224.1_Missense_Mutation_p.W124C	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	124					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TTAAAAGAGTCCAGACATCTG	0.318000													5	71					0	0	0.00116845	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677497	19677497	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:19677497C>T	ENST00000328041.6	+	14	1745	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	516						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATCACCTTCCTGGCTGCTG	0.587000													10	33					0	0	0.000978159	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147044	52147044	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:52147044G>A	ENST00000360844.6	-	5	1041	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	334					cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGCACAGAAAGGATGAAGGAC	0.587000													17	34					0	0	0.00074312	0	0
KPRP	448834	broad.mit.edu	37	1	152733161	152733161	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:152733161C>T	ENST00000368773.1	+	2	1155	c.1097C>T	c.(1096-1098)tCc>tTc	p.S366F	KPRP_ENST00000606109.1_Missense_Mutation_p.S366F	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	366	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGGCGCCTCCTGCCCTGAG	0.647000													19	38					0	0	0.00152264	0	0
MTTP	4547	broad.mit.edu	37	4	100503146	100503146	+	Missense_Mutation	SNP	G	G	A	rs145545828	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:100503146G>A	ENST00000457717.1	+	3	402	c.146G>A	c.(145-147)gGa>gAa	p.G49E	MTTP_ENST00000511045.1_Missense_Mutation_p.G76E|MTTP_ENST00000265517.5_Missense_Mutation_p.G49E|MTTP_ENST00000422897.2_Missense_Mutation_p.G49E	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	49	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	p.G49V(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	CGGGGCAAAGGAAAACTGCAA	0.463000													39	60					0	0	0.000953801	0	0
TMEM189	387521	broad.mit.edu	37	20	48760138	48760138	+	Missense_Mutation	SNP	A	A	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:48760138A>C	ENST00000557021.1	-	2	302	c.142T>G	c.(142-144)Tgc>Ggc	p.C48G	TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.C48G|TMEM189_ENST00000371652.4_Missense_Mutation_p.C48G|TMEM189_ENST00000371650.5_Missense_Mutation_p.C48G	NM_199203.2	NP_954673.1			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ATCACAGAGCACCACTCCTGG	0.607000													10	120					0	0	0.000673444	0	0
EPPK1	83481	broad.mit.edu	37	8	144943357	144943357	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:144943357G>A	ENST00000525985.1	-	2	4136	c.4065C>T	c.(4063-4065)ctC>ctT	p.L1355L				P58107	EPIPL_HUMAN	epiplakin 1	1355						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCACCTGCAGGAGGGGCAAGC	0.687000													9	9					0	0	0.000274275	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101597671	101597671	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:101597671C>T	ENST00000310954.6	-	5	1252	c.966G>A	c.(964-966)tgG>tgA	p.W322*		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	322					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.W322C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAGCAAAGATCCATGATAGAA	0.363000													9	35					0	0	0.000442599	0	0
C6	729	broad.mit.edu	37	5	41160404	41160404	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:41160404C>T	ENST00000263413.3	-	11	1788	c.1524G>A	c.(1522-1524)agG>agA	p.R508R	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Silent_p.R508R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	508	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.R508S(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAAAGCTTTCCTGAGGTTGT	0.522000													11	59					0	0	0.000978159	0	0
OR10J5	127385	broad.mit.edu	37	1	159505246	159505246	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:159505246C>T	ENST00000334857.2	-	1	596	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGAAAGTTTCATGACTGGGT	0.393000													17	54					0	0	0.00074312	0	0
RBM4B	83759	broad.mit.edu	37	11	66436569	66436569	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:66436569G>A	ENST00000525754.1	-	2	1274	c.606C>T	c.(604-606)acC>acT	p.T202T	RBM4B_ENST00000310046.4_Silent_p.T202T|RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000524637.1_3'UTR			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	202	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						CGTAGCCCATGGTGTAAGGTG	0.512000													20	9					0	0	0.00152264	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208509	140208509	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140208509C>T	ENST00000529310.1	+	1	947	c.833C>T	c.(832-834)tCa>tTa	p.S278L	PCDHA6_ENST00000527624.1_Missense_Mutation_p.S278L|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.S278L(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCAATTTCATATTCTTTT	0.388000													15	73					0	0	0.000422831	0	0
RPA1	6117	broad.mit.edu	37	17	1783889	1783889	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:1783889G>A	ENST00000254719.5	+	12	1255	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	382					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AAAGGAGCCCGAGTCTCTGAT	0.483000								Nucleotide excision repair (NER)					27	29					0	0	0.000720815	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:40790031C>T	ENST00000373198.3	-	18	2944	c.2709G>A	c.(2707-2709)atG>atA	p.M903I	PTPRT_ENST00000373190.1_Missense_Mutation_p.M880I|PTPRT_ENST00000373193.3_Missense_Mutation_p.M884I|PTPRT_ENST00000373187.1_Missense_Mutation_p.M881I|PTPRT_ENST00000356100.2_Missense_Mutation_p.M890I|PTPRT_ENST00000373184.1_Missense_Mutation_p.M871I|PTPRT_ENST00000373201.1_Missense_Mutation_p.M871I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	881	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCTCTCTTCATCTGCGTGA	0.562000													12	30					0	0	0.00136819	0	0
PSD3	23362	broad.mit.edu	37	8	18622975	18622975	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:18622975G>A	ENST00000440756.2	-	9	2264	c.2162C>T	c.(2161-2163)tCc>tTc	p.S721F	PSD3_ENST00000327040.8_Missense_Mutation_p.S719F|PSD3_ENST00000286485.8_Missense_Mutation_p.S185F|PSD3_ENST00000523619.1_Missense_Mutation_p.S654F			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	720	SEC7.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGATCCTTGGAGAAATCAAC	0.398000													23	69					0	0	0.000878237	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317117	30317117	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:30317117C>T	ENST00000375377.1	-	3	2061	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	654										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCTTCTGGTTCCCCTAGATCT	0.517000													7	40					0	0	8.12818e-05	0	0
PRR16	51334	broad.mit.edu	37	5	120021835	120021835	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:120021835G>A	ENST00000379551.2	+	3	634	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	PRR16_ENST00000505123.1_Missense_Mutation_p.V46I|PRR16_ENST00000446965.1_Missense_Mutation_p.V46I|PRR16_ENST00000407149.2_Missense_Mutation_p.V116I	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	116										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		TATCCTCACGGTCCTGAGAAA	0.522000													33	29					0	0	0.000409698	0	0
PGD	5226	broad.mit.edu	37	1	10468150	10468150	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:10468150C>T	ENST00000538557.1	+	6	677	c.433C>T	c.(433-435)Caa>Taa	p.Q145*	PGD_ENST00000541529.1_Nonsense_Mutation_p.Q136*|PGD_ENST00000270776.8_Nonsense_Mutation_p.Q158*			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase	158					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GACCATCTTCCAAGGCATTGC	0.498000													17	99					0	0	0.00074312	0	0
WWP2	11060	broad.mit.edu	37	16	69965485	69965485	+	Splice_Site	SNP	T	T	C			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:69965485T>C	ENST00000359154.2	+	15	1694		c.e15+2		WWP2_ENST00000542271.1_Splice_Site|WWP2_ENST00000356003.2_Splice_Site|WWP2_ENST00000568684.1_Splice_Site|WWP2_ENST00000544162.1_Splice_Site|WWP2_ENST00000448661.1_Splice_Site	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2						entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTCCAACAGGTTAGATCATGG	0.507000													23	64					0	0	0.00047179	0	0
SHANK1	50944	broad.mit.edu	37	19	51217085	51217085	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:51217085G>A	ENST00000293441.1	-	5	780	c.762C>T	c.(760-762)gcC>gcT	p.A254A	SHANK1_ENST00000391814.1_Silent_p.A254A|SHANK1_ENST00000359082.3_Silent_p.A254A	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	254					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGGCGCATGCGGCCTTATGCA	0.637000													17	16					0	0	0.00074312	0	0
AFAP1L2	84632	broad.mit.edu	37	10	116067573	116067573	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:116067573C>T	ENST00000369271.3	-	10	1363	c.1063G>A	c.(1063-1065)Gag>Aag	p.E355K	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.E355K|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.E408K	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	355	PH 2.				inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGGATGTCTCGAGGGACCTC	0.542000													5	26					0	0	0.000602214	0	0
FRMPD1	22844	broad.mit.edu	37	9	37740766	37740766	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:37740766C>T	ENST00000539465.1	+	15	2834	c.2241C>T	c.(2239-2241)ccC>ccT	p.P747P	FRMPD1_ENST00000377765.3_Silent_p.P747P|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.P616P|FRMPD1_ENST00000536622.1_Silent_p.P569P			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	747						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGGCCCAGCCCAGTTCCATGC	0.642000													5	6					0	0	0.000602214	0	0
LARP1B	55132	broad.mit.edu	37	4	129099679	129099679	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:129099679C>T	ENST00000326639.6	+	14	1989	c.1778C>T	c.(1777-1779)tCt>tTt	p.S593F	LARP1B_ENST00000441387.1_Missense_Mutation_p.S593F|LARP1B_ENST00000354456.3_Missense_Mutation_p.S12F|LARP1B_ENST00000264584.5_Missense_Mutation_p.S534F	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	593							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GTTCCAGAATCTCCTAGAATT	0.378000													67	167					0	0	0.000781405	0	0
DAB1	1600	broad.mit.edu	37	1	57476912	57476912	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:57476912G>A	ENST00000371236.2	-	13	1741	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	DAB1_ENST00000371234.4_Missense_Mutation_p.S493F|DAB1_ENST00000371231.1_Missense_Mutation_p.S526F|DAB1_ENST00000439789.2_Missense_Mutation_p.S407F|DAB1_ENST00000414851.2_Missense_Mutation_p.S475F|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.S491F			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	526					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AGATGATTTGGATGGAGAGCT	0.478000													12	76					0	0	0.000219431	0	0
PREX2	80243	broad.mit.edu	37	8	69058566	69058566	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:69058566C>T	ENST00000288368.4	+	34	4487	c.4210C>T	c.(4210-4212)Cat>Tat	p.H1404Y		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1404					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GTTTAAAATTCATCCTGTTCT	0.318000													30	47					0	0	0.00178596	0	0
DCUN1D1	54165	broad.mit.edu	37	3	182679059	182679059	+	Missense_Mutation	SNP	G	G	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:182679059G>T	ENST00000292782.4	-	4	628	c.475C>A	c.(475-477)Cag>Aag	p.Q159K	DCUN1D1_ENST00000469954.1_Missense_Mutation_p.Q144K	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	159	DCUN1.					ubiquitin ligase complex	protein binding	p.Q159K(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AAAGTAAACTGGTAAAAATCC	0.313000													10	338					0.000442599	0.00408131	0.000442599	1	0
EIF2AK1	27102	broad.mit.edu	37	7	6064348	6064348	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:6064348C>T	ENST00000199389.6	-	15	1995	c.1849G>A	c.(1849-1851)Gac>Aac	p.D617N	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.D493N	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	617					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		ACCCCTTTGTCTTGAGAAAGG	0.378000													22	45					0	0	0.00047179	0	0
TDRD5	163589	broad.mit.edu	37	1	179561892	179561892	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:179561892C>T	ENST00000444136.1	+	2	392	c.142C>T	c.(142-144)Ctt>Ttt	p.L48F	TDRD5_ENST00000294848.8_Missense_Mutation_p.L48F|TDRD5_ENST00000367614.1_Missense_Mutation_p.L48F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	48	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ACTCCGAATCCTTGGGTATCG	0.478000													44	71					0	0	0.000781405	0	0
OR10T2	128360	broad.mit.edu	37	1	158368576	158368576	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:158368576C>T	ENST00000334438.1	-	1	680	c.681G>A	c.(679-681)ctG>ctA	p.L227L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					AGGGGATCTTCAGGATGGTGT	0.458000													22	34					0	0	0.00047179	0	0
NNMT	4837	broad.mit.edu	37	11	114168772	114168772	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:114168772A>G	ENST00000535401.1	+	4	518	c.254A>G	c.(253-255)gAc>gGc	p.D85G	RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.D85G			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	85					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	GTCGTCACTGACTACTCAGAC	0.527000													12	40					0	0	0.000422831	0	0
GSX2	170825	broad.mit.edu	37	4	54966537	54966537	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:54966537C>A	ENST00000326902.2	+	1	340	c.26C>A	c.(25-27)tCg>tAg	p.S9*	FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_Nonsense_Mutation_p.S9*	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	9						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TATGTCGACTCGCTCATCATC	0.647000													8	10					0.000274275	0.00253828	0.000274275	1	0
ZNRF4	148066	broad.mit.edu	37	19	5456123	5456123	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:5456123C>T	ENST00000222033.4	+	1	698	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	207	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GGGGCCAGATCGCCATCCCCT	0.682000													34	28					0	0	0.000953801	0	0
TAAR6	319100	broad.mit.edu	37	6	132891606	132891606	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:132891606G>A	ENST00000275198.1	+	1	146	c.146G>A	c.(145-147)gGa>gAa	p.G49E		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	49						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		GCTGTGTTTGGAAACCTCCTG	0.527000													29	26					0	0	0.000339439	0	0
HERC2	8924	broad.mit.edu	37	15	28420712	28420712	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	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													10	9					0	0	0.000978159	0	0
ADD3	120	broad.mit.edu	37	10	111860448	111860448	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:111860448C>T	ENST00000277900.8	+	2	402	c.37C>T	c.(37-39)Cct>Tct	p.P13S	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.P13S|ADD3_ENST00000356080.4_Missense_Mutation_p.P13S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	13						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GATTACCACTCCTCCTCCTCC	0.433000													12	24					0	0	0.000308642	0	0
ITLN1	55600	broad.mit.edu	37	1	160851073	160851073	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:160851073C>T	ENST00000326245.3	-	5	550	c.435G>A	c.(433-435)aaG>aaA	p.K145K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	145	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCCCAGGTCCTTGGCCTGGA	0.597000													19	47					0	0	0.00152264	0	0
LCA5L	150082	broad.mit.edu	37	21	40783685	40783685	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:40783685C>T	ENST00000358268.2	-	7	1547	c.1019G>A	c.(1018-1020)cGa>cAa	p.R340Q	LCA5L_ENST00000288350.3_Missense_Mutation_p.R340Q|LCA5L_ENST00000380671.2_Missense_Mutation_p.R340Q|WRB_ENST00000541890.1_Intron			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	340										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTTAAGTATTCGATGACTATA	0.294000													8	40					0	0	0.000442599	0	0
SHANK2	22941	broad.mit.edu	37	11	70505938	70505938	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:70505938T>G	ENST00000338508.4	-	23	2058	c.2059A>C	c.(2059-2061)Att>Ctt	p.I687L	SHANK2_ENST00000357171.3_Missense_Mutation_p.I98L|SHANK2_ENST00000409161.1_Missense_Mutation_p.I97L|SHANK2_ENST00000449833.2_Missense_Mutation_p.I98L|SHANK2_ENST00000449116.2_Missense_Mutation_p.I98L|SHANK2_ENST00000423696.2_Missense_Mutation_p.I307L|SHANK2_ENST00000409530.1_Missense_Mutation_p.I97L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	307					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CCTACCTCAATCAAGAAGTCC	0.602000													8	13					0	0	0.000442599	0	0
SYT3	84258	broad.mit.edu	37	19	51135965	51135965	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:51135965C>T	ENST00000338916.4	-	2	885	c.252G>A	c.(250-252)cgG>cgA	p.R84R	SYT3_ENST00000600079.1_Silent_p.R84R|SYT3_ENST00000544769.1_Silent_p.R84R|SYT3_ENST00000593901.1_Silent_p.R84R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	84						cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		CTCCCTTGTCCCGCCAGGGCA	0.657000													15	34					0	0	0.000422831	0	0
ITGA1	3672	broad.mit.edu	37	5	52216260	52216260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:52216260C>T	ENST00000282588.6	+	17	2712	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	752					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CATCACAGTTCGAAAATCAGA	0.378000													15	30					0	0	0.000308642	0	0
UBXN10	127733	broad.mit.edu	37	1	20517722	20517722	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:20517722C>T	ENST00000375099.3	+	2	752	c.668C>T	c.(667-669)aCc>aTc	p.T223I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	223	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						GATTTGCAAACCATTGTTGCT	0.493000													12	71					0	0	0.000219431	0	0
DNAJA3	9093	broad.mit.edu	37	16	4494683	4494683	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:4494683C>T	ENST00000262375.6	+	7	1027	c.950C>T	c.(949-951)aCc>aTc	p.T317I	DNAJA3_ENST00000355296.4_Missense_Mutation_p.T317I|DNAJA3_ENST00000431375.2_Missense_Mutation_p.T164I	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	317					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						GATGGCCAGACCGTGAGGATG	0.572000													7	23					0	0	0.000157383	0	0
SLC10A7	84068	broad.mit.edu	37	4	147204355	147204355	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:147204355G>A	ENST00000432059.2	-	9	1043	c.797C>T	c.(796-798)tCc>tTc	p.S266F	SLC10A7_ENST00000335472.7_Missense_Mutation_p.S279F|SLC10A7_ENST00000507030.1_Missense_Mutation_p.S279F|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Missense_Mutation_p.S279F			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	279						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CAATGTAAGGGATTTGTGTGT	0.333000													20	29					0	0	0.00047179	0	0
HCP5	10866	broad.mit.edu	37	6	31431476	31431476	+	RNA	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:31431476G>A	ENST00000414046.2	+	0	548					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						gcacaggaacgaggccttggg	0.552000													16	44					0	0	0.00074312	0	0
SNORD114-26	767606	broad.mit.edu	37	14	101453405	101453405	+	RNA	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr14:101453405G>A	ENST00000363543.1	+	0	23					NR_003219.1																						GAGCACTGGTGGAGTATGAGT	0.388000													29	35					0	0	0.00178596	0	0
MSLNL	401827	broad.mit.edu	37	16	824895	824895	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:824895C>T	ENST00000293892.3	-	7	1676	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	MSLNL_ENST00000442466.1_Silent_p.L208L			Q96KJ4	MSLNL_HUMAN	mesothelin-like	208					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGCAGCGGTCAGCCGGGGGC	0.692000													8	13					0	0	0.000274275	0	0
KCNQ5	56479	broad.mit.edu	37	6	73787510	73787510	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:73787510G>A	ENST00000342056.2	+	5	1216	c.818G>A	c.(817-819)gGa>gAa	p.G273E	KCNQ5_ENST00000370398.1_Missense_Mutation_p.G273E|KCNQ5_ENST00000355635.3_Missense_Mutation_p.G273E|KCNQ5_ENST00000402622.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000403813.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000414165.2_Missense_Mutation_p.G273E|KCNQ5_ENST00000355194.4_Missense_Mutation_p.G273E|KCNQ5_ENST00000370392.1_Missense_Mutation_p.G273E	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	273					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TGGTACATAGGATTTTTGGTT	0.348000													10	45					0	0	0.000442599	0	0
BTNL8	79908	broad.mit.edu	37	5	180335918	180335918	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:180335918G>A	ENST00000231229.4	+	2	616	c.382G>A	c.(382-384)Gag>Aag	p.E128K	BTNL8_ENST00000508408.1_Missense_Mutation_p.E128K|BTNL8_ENST00000340184.4_Missense_Mutation_p.E128K|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	128	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCCATCTGGGAGCTACAGGT	0.428000													41	150					0	0	0.000680045	0	0
E2F2	1870	broad.mit.edu	37	1	23836608	23836608	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:23836608G>A	ENST00000361729.2	-	7	1504	c.1078C>T	c.(1078-1080)Cca>Tca	p.P360S		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	360	Poly-Pro.|Transactivation (Potential).				G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGAGGCGGTGGGGCCTGCTGG	0.642000													10	9					0	0	0.000442599	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666155	49666155	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr12:49666155C>T	ENST00000301072.6	+	4	770	c.495C>T	c.(493-495)tcC>tcT	p.S165S	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Silent_p.S235S	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	165					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						GCAAGAAGTCCAAGCTGGAGT	0.547000													20	12					0	0	0.00121646	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593853	156593853	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:156593853G>A	ENST00000255039.1	+	4	747	c.340G>A	c.(340-342)Gtc>Atc	p.V114I		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	114	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCCTCCCTGGTCATCGCGGG	0.687000													9	15					0	0	0.000673444	0	0
CYLC2	1539	broad.mit.edu	37	9	105767612	105767612	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:105767612A>T	ENST00000374798.3	+	5	769	c.699A>T	c.(697-699)gaA>gaT	p.E233D	CYLC2_ENST00000487798.1_Missense_Mutation_p.E233D	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	233	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CAGCCATAGAATTACAAGCTG	0.388000													16	20					0	0	0.000422831	0	0
AIFM2	84883	broad.mit.edu	37	10	71873973	71873973	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:71873973G>A	ENST00000307864.1	-	9	1296	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	AIFM2_ENST00000373248.1_Silent_p.V361V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	361					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						AGCTCGTAGAGACGAACAGGT	0.602000													9	18					0	0	0.000274275	0	0
ASXL3	80816	broad.mit.edu	37	18	31319761	31319761	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:31319761C>T	ENST00000269197.5	+	11	2393	c.2393C>T	c.(2392-2394)aCc>aTc	p.T798I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAGAACCTTACCTCCCAGCAG	0.473000													11	23					0	0	0.000978159	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900681	151900681	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:151900681G>A	ENST00000393900.3	-	3	473	c.120C>T	c.(118-120)tcC>tcT	p.S40S	MAGEA12_ENST00000357916.4_Silent_p.S40S|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.S40S	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	40	Poly-Ser.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TAGAGGAGGAGGAGGCAGTCT	0.642000													22	5					0	0	0.000295444	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368401	86368401	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:86368401G>A	ENST00000400286.2	-	2	2841	c.2243C>T	c.(2242-2244)tCc>tTc	p.S748F		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	748						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTTGGAAGGATAAAAATTC	0.368000													54	168					0	0	0.000781405	0	0
SCN9A	6335	broad.mit.edu	37	2	167060918	167060918	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:167060918C>T	ENST00000303354.6	-	25	4798	c.4458G>A	c.(4456-4458)atG>atA	p.M1486I	SCN9A_ENST00000409435.1_Missense_Mutation_p.M1485I|SCN9A_ENST00000409672.1_Missense_Mutation_p.M1474I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.M1486I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1485						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGCTTTTTCATTGCATTAT	0.308000													29	50					0	0	0.000409698	0	0
LTBP1	4052	broad.mit.edu	37	2	33589287	33589287	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:33589287G>A	ENST00000404816.2	+	30	4757	c.4404G>A	c.(4402-4404)atG>atA	p.M1468I	LTBP1_ENST00000407925.1_Missense_Mutation_p.M1142I|LTBP1_ENST00000272273.5_Missense_Mutation_p.M366I|LTBP1_ENST00000404525.1_Missense_Mutation_p.M1089I|LTBP1_ENST00000354476.3_Missense_Mutation_p.M1469I|LTBP1_ENST00000402934.1_Missense_Mutation_p.M1087I|LTBP1_ENST00000390003.4_Missense_Mutation_p.M1143I|LTBP1_ENST00000418533.2_Missense_Mutation_p.M1100I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1468	EGF-like 16; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTTAAGATATGGATGAATGTC	0.398000													28	38					0	0	0.000692331	0	0
TDRD6	221400	broad.mit.edu	37	6	46659662	46659662	+	Missense_Mutation	SNP	C	C	T	rs146723237		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:46659662C>T	ENST00000544460.1	+	1	4051	c.3797C>T	c.(3796-3798)cCc>cTc	p.P1266L	TDRD6_ENST00000316081.6_Missense_Mutation_p.P1266L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1266					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GCTGAGACACCCTTGAAAACA	0.358000													28	55					0	0	0.00106085	0	0
CPAMD8	27151	broad.mit.edu	37	19	17013547	17013547	+	Silent	SNP	G	G	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:17013547G>T	ENST00000443236.1	-	35	4769	c.4738C>A	c.(4738-4740)Cga>Aga	p.R1580R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1533						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAGTCTCCTCGGGAACCCTCA	0.657000													4	44					0.000602214	0.00553325	0.000602214	1	0
EXD1	161829	broad.mit.edu	37	15	41483766	41483766	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:41483766C>T	ENST00000314992.5	-	8	754	c.564G>A	c.(562-564)caG>caA	p.Q188Q	EXD1_ENST00000458580.2_Silent_p.Q246Q	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	188					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						CCATGGAAAACTGAAGTACAT	0.378000													16	16					0	0	0.00188189	0	0
TMEM51	55092	broad.mit.edu	37	1	15546075	15546075	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:15546075C>T	ENST00000428417.1	+	3	1044	c.598C>T	c.(598-600)Ccg>Tcg	p.P200S	TMEM51_ENST00000376008.2_Missense_Mutation_p.P200S|TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000400796.3_Missense_Mutation_p.P200S|TMEM51_ENST00000376014.3_Missense_Mutation_p.P200S	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	200						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		ACGACTGAAACCGCTGAAAGT	0.537000													29	33					0	0	0.00127121	0	0
ATP4A	495	broad.mit.edu	37	19	36045841	36045841	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:36045841C>T	ENST00000262623.3	-	16	2492	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	822					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGCAGAGTTCGATGAAGAGG	0.562000													12	25					0	0	0.00185496	0	0
CYTIP	9595	broad.mit.edu	37	2	158272256	158272256	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:158272256C>T	ENST00000264192.3	-	8	1134	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q	CYTIP_ENST00000540637.1_Missense_Mutation_p.R232Q	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	338					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						GAGTTGCTTTCGGACACTTCC	0.483000													26	28					0	0	0.00178596	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847181	60847181	+	Splice_Site	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:60847181G>A	ENST00000313733.3	+	5	461	c.258_splice	c.e5-1	p.E87_splice	OSBPL2_ENST00000439951.2_5'UTR|OSBPL2_ENST00000358053.2_Splice_Site_p.E75_splice	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	87					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			ATCTTTCCAGGAGCTGTCCAA	0.597000													7	14					0	0	8.12818e-05	0	0
RASAL3	64926	broad.mit.edu	37	19	15562704	15562704	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:15562704C>T	ENST00000343625.6	-	18	3018	c.2938G>A	c.(2938-2940)Gat>Aat	p.D980N		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	980					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGGACAGCATCCCTCAGCTGA	0.607000													8	19					0	0	0.000157383	0	0
CUX1	1523	broad.mit.edu	37	7	101840249	101840249	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:101840249C>T	ENST00000360264.3	+	15	1611	c.1591C>T	c.(1591-1593)Caa>Taa	p.Q531*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q520*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000292535.7_Nonsense_Mutation_p.Q520*|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q520*|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q418*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q418*|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	520					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CATATCTTCCCAAAGTCCATT	0.522000													12	57					0	0	0.00136819	0	0
TMEM145	284339	broad.mit.edu	37	19	42818469	42818469	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:42818469C>T	ENST00000598766.1	+	2	166	c.166C>T	c.(166-168)Cga>Tga	p.R56*	TMEM145_ENST00000301204.3_Nonsense_Mutation_p.R56*|TMEM145_ENST00000601020.1_3'UTR			Q8NBT3	TM145_HUMAN	transmembrane protein 145	56						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				GGATTACGGCCGACTGGACTT	0.567000													16	66					0	0	0.000566183	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504023	66504023	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:66504023G>A	ENST00000360242.5	+	2	140	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CCDC102B_ENST00000319445.6_Missense_Mutation_p.R8Q|CCDC102B_ENST00000584156.1_Missense_Mutation_p.R8Q|CCDC102B_ENST00000358653.5_Missense_Mutation_p.R8Q|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057.2	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	8								p.R8Q(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TCCATACATCGATTAATTGAG	0.398000													22	30					0	0	0.00152264	0	0
FAM117A	81558	broad.mit.edu	37	17	47788722	47788722	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:47788722C>T	ENST00000240364.2	-	8	1336	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_Silent_p.R147R	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	419	Pro-rich.									haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CCGGATCCTTCCGAGGTGGTG	0.637000													5	30					0	0	0.00116845	0	0
SLC6A18	348932	broad.mit.edu	37	5	1239571	1239571	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:1239571A>T	ENST00000324642.3	+	6	862	c.739A>T	c.(739-741)Att>Ttt	p.I247F	SLC6A18_ENST00000296821.4_Intron	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	247					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCAGATGCACATTCTCCAGAA	0.562000													15	53					0	0	0.00074312	0	0
VWA3A	146177	broad.mit.edu	37	16	22130237	22130237	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:22130237G>A	ENST00000389398.5	+	12	1101	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	335						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACACCAGCCGGGACATGGATG	0.607000													10	25					0	0	0.00136819	0	0
DNAJC16	23341	broad.mit.edu	37	1	15892468	15892468	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:15892468C>T	ENST00000375847.3	+	12	1817	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Silent_p.F551F|DNAJC16_ENST00000375838.1_Silent_p.F551F	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	551					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TCATCCTCTTCGGCACTGTCA	0.428000													153	247					0	0	0.000781405	0	0
FSCN3	29999	broad.mit.edu	37	7	127235784	127235784	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:127235784C>T	ENST00000265825.5	+	2	787	c.568C>T	c.(568-570)Cac>Tac	p.H190Y	FSCN3_ENST00000420086.2_Missense_Mutation_p.H56Y	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	190						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TGGATGCTACCACCTGGAGAC	0.587000													29	35					0	0	0.000409698	0	0
EPHB6	2051	broad.mit.edu	37	7	142568069	142568069	+	Missense_Mutation	SNP	C	C	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:142568069C>G	ENST00000392957.2	+	18	3497	c.2710C>G	c.(2710-2712)Cgg>Ggg	p.R904G	EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.R627G|EPHB6_ENST00000442129.1_Missense_Mutation_p.R904G	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	904	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACCGTGCCCGGCGGCCTCA	0.582000													25	90					0	0	0.00106085	0	0
PCLO	27445	broad.mit.edu	37	7	82583769	82583769	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:82583769G>A	ENST00000423517.2	-	5	6837	c.6500C>T	c.(6499-6501)tCg>tTg	p.S2167L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2167L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2098					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAAGGCTCCGAGTAGGTCAA	0.413000													18	60					0	0	0.00188189	0	0
ACSM1	116285	broad.mit.edu	37	16	20638573	20638573	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:20638573C>T	ENST00000219151.4	-	11	1528	c.318G>A	c.(316-318)aaG>aaA	p.K106K	ACSM1_ENST00000307493.4_Silent_p.K455K|ACSM1_ENST00000520010.1_Silent_p.K455K			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	455					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.K106K(1)|p.K455K(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CTTCATCCATCTTACCTCTGT	0.507000													47	220					0	0	0.000781405	0	0
TSNAX-DISC1	100303453	broad.mit.edu	37	1	231673041	231673041	+	Silent	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:231673041A>G	ENST00000602962.1	+	3	362	c.204A>G	c.(202-204)aaA>aaG	p.K68K	TSNAX_ENST00000602825.1_3'UTR|TSNAX_ENST00000366639.4_Silent_p.K68K																							TTGAAAGTAAAAGGACAATTT	0.333000													25	38					0	0	0.00127121	0	0
ZBBX	79740	broad.mit.edu	37	3	167083704	167083704	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:167083704C>T	ENST00000392766.2	-	6	583	c.243G>A	c.(241-243)atG>atA	p.M81I	ZBBX_ENST00000455345.2_Missense_Mutation_p.M81I|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.M81I|ZBBX_ENST00000392764.1_Missense_Mutation_p.M52I|ZBBX_ENST00000307529.5_Missense_Mutation_p.M81I	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	81						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TTTGTGACATCATATATGATT	0.289000													12	52					0	0	0.000219431	0	0
FRMPD1	22844	broad.mit.edu	37	9	37719095	37719095	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr9:37719095G>A	ENST00000539465.1	+	6	1031	c.438G>A	c.(436-438)gaG>gaA	p.E146E	FRMPD1_ENST00000377765.3_Silent_p.E146E|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Silent_p.E15E|FRMPD1_ENST00000536622.1_5'UTR			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	146						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCTGACCGAGGAGAAGAGAG	0.463000													16	15					0	0	0.00074312	0	0
GRXCR2	643226	broad.mit.edu	37	5	145252393	145252393	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:145252393C>T	ENST00000377976.1	-	1	138	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	47										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGGTATTCCTCCTTTGGTGAC	0.498000													43	49					0	0	0.000781405	0	0
MGAM	8972	broad.mit.edu	37	7	141747655	141747655	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:141747655G>A	ENST00000475668.2	+	22	2623	c.2569G>A	c.(2569-2571)Gat>Aat	p.D857N	MGAM_ENST00000549489.2_Missense_Mutation_p.D857N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	857	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTTTTCTGGGATAATGGGGA	0.448000													4	17					0	0	0.00116845	0	0
CCDC37	348807	broad.mit.edu	37	3	126154442	126154442	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:126154442G>A	ENST00000393425.1	+	16	1771	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	CCDC37_ENST00000352312.1_Missense_Mutation_p.E557K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E558K|CCDC37_ENST00000506204.1_3'UTR			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	557										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GATCCTACAGGAGGAGCATCT	0.582000													11	44					0	0	0.00074312	0	0
DUSP13	51207	broad.mit.edu	37	10	76868835	76868835	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:76868835G>A	ENST00000372702.3	-	1	144	c.81C>T	c.(79-81)ctC>ctT	p.L27L	DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000372700.3_Silent_p.L27L|DUSP13_ENST00000607009.1_5'UTR			Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	27						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTGCCCGCAGGAGCTCCTCCA	0.637000													6	12					0	0	8.12818e-05	0	0
TREH	11181	broad.mit.edu	37	11	118529397	118529397	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:118529397C>T	ENST00000529101.1	-	14	1636	c.1591G>A	c.(1591-1593)Gaa>Aaa	p.E531K	TREH_ENST00000530256.1_Missense_Mutation_p.E408K|TREH_ENST00000264029.4_Missense_Mutation_p.E531K|TREH_ENST00000397925.1_Missense_Mutation_p.E500K|TREH_ENST00000525958.1_Missense_Mutation_p.E500K			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	531					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		ACCTGAACTTCATATTCTCCT	0.627000													4	0					0	0	0.000602214	0	0
MIOS	54468	broad.mit.edu	37	7	7646670	7646670	+	Missense_Mutation	SNP	A	A	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:7646670A>G	ENST00000340080.4	+	13	2996	c.2575A>G	c.(2575-2577)Atg>Gtg	p.M859V	MIOS_ENST00000405785.1_Missense_Mutation_p.M859V	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	859										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTAAATGTATGCAGTTGGA	0.408000													35	39					0	0	0.000437636	0	0
TSSK2	23617	broad.mit.edu	37	22	19119841	19119841	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:19119841G>A	ENST00000399635.2	+	1	1521	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	310					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CCCGACCACCGGCCCGACCAC	0.642000													12	21					0	0	0.000978159	0	0
MUC16	94025	broad.mit.edu	37	19	9083532	9083532	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:9083532G>A	ENST00000397910.4	-	1	8486	c.8283C>T	c.(8281-8283)ttC>ttT	p.F2761F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2761	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						AACTCTGACTGAATACAAGGG	0.498000													9	55					0	0	0.000442599	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815096	106815096	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr8:106815096G>A	ENST00000407775.2	+	8	3036	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	ZFPM2_ENST00000378472.4_Missense_Mutation_p.G660E|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G797E|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G797E|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	929					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCCCCAATGGAAACTTATTT	0.423000													13	28					0	0	0.000219431	0	0
DPYD	1806	broad.mit.edu	37	1	97658661	97658661	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:97658661C>T	ENST00000370192.3	-	20	2686	c.2586G>A	c.(2584-2586)ggG>ggA	p.G862G	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	862					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GAACTGGTTTCCCTTTCTGGT	0.438000													26	45					0	0	0.000878237	0	0
CHRNA4	1137	broad.mit.edu	37	20	61987436	61987436	+	Splice_Site	SNP	C	C	T	rs146651027	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:61987436C>T	ENST00000370263.4	-	4	495	c.273_splice	c.e4-1	p.E92_splice	CHRNA4_ENST00000463705.1_Intron	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	92					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGTGCCACTCCTGGATGAGG	0.697000													4	12					0	0	0.00024832	0	0
EPHB4	2050	broad.mit.edu	37	7	100404068	100404068	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr7:100404068G>A	ENST00000358173.3	-	14	2926	c.2458C>T	c.(2458-2460)Ccg>Tcg	p.P820S	EPHB4_ENST00000360620.3_Missense_Mutation_p.P820S	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	820	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCCCAGTACGGCCTCTCCCCA	0.567000													7	36					0	0	0.000157383	0	0
FGF2	2247	broad.mit.edu	37	4	123797575	123797575	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:123797575C>T	ENST00000264498.3	+	2	745	c.677C>T	c.(676-678)gCt>gTt	p.A226V		NM_002006.4	NP_001997.5	P09038	FGF2_HUMAN	fibroblast growth factor 2 (basic)	226					activation of MAPK activity|branching involved in ureteric bud morphogenesis|cell migration involved in sprouting angiogenesis|chemotaxis|chondroblast differentiation|embryonic morphogenesis|fibroblast growth factor receptor signaling pathway|inositol phosphate biosynthetic process|insulin receptor signaling pathway|negative regulation of blood vessel endothelial cell migration|negative regulation of cell death|organ morphogenesis|phosphatidylinositol biosynthetic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cardiac muscle cell proliferation|positive regulation of cell division|positive regulation of cell fate specification|positive regulation of ERK1 and ERK2 cascade|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phospholipase C activity|Ras protein signal transduction|release of sequestered calcium ion into cytosol|wound healing	extracellular space	fibroblast growth factor receptor binding|growth factor activity|heparin binding|ligand-dependent nuclear receptor transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	8					Pentosan Polysulfate(DB00686)	AGATTACTGGCTTCTGTAAGC	0.363000													22	36					0	0	0.000375601	0	0
SRRM2	23524	broad.mit.edu	37	16	2815721	2815721	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:2815721C>T	ENST00000301740.8	+	11	5741	c.5192C>T	c.(5191-5193)tCt>tTt	p.S1731F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1731	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCTCAGTGTCTTCCCCGGAG	0.592000													13	15					0	0	0.000308642	0	0
EXO1	9156	broad.mit.edu	37	1	242023851	242023851	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:242023851G>A	ENST00000366548.3	+	9	1382	c.789G>A	c.(787-789)atG>atA	p.M263I	EXO1_ENST00000518483.1_Missense_Mutation_p.M263I|EXO1_ENST00000348581.5_Missense_Mutation_p.M263I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	263	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATCTCAAGATGAATATCACGG	0.363000								Editing and processing nucleases					53	70					0	0	0.000781405	0	0
KCNK6	9424	broad.mit.edu	37	19	38817597	38817597	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:38817597C>T	ENST00000263372.3	+	2	794	c.687C>T	c.(685-687)ccC>ccT	p.P229P		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	229						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTGGCCAGCCCTACCGGGCCC	0.627000													19	47					0	0	0.000375601	0	0
ATP1A3	478	broad.mit.edu	37	19	42482346	42482346	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:42482346G>A	ENST00000545399.1	-	13	1955	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V	ATP1A3_ENST00000602133.1_Missense_Mutation_p.A558V|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A599V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A588V	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	588					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GTCAGGGACGGCTGCCCGGGG	0.642000													12	14					0	0	0.000219431	0	0
LILRA1	11024	broad.mit.edu	37	19	55107797	55107797	+	Missense_Mutation	SNP	C	C	T	rs143023552	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:55107797C>T	ENST00000251372.3	+	7	1284	c.1102C>T	c.(1102-1104)Cgt>Tgt	p.R368C	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	368	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGCCCCCCTCCGTCTCAGATC	0.577000													17	49					0	0	0.000958276	0	0
CREBZF	58487	broad.mit.edu	37	11	85375616	85375616	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:85375616G>A	ENST00000527447.1	-	1	530	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	CREBZF_ENST00000398294.2_Silent_p.L20L|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	102					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				AGCCCAGACAGAAAGTCCATA	0.711000													32	33					0	0	0.000692331	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730862	140730862	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140730862C>T	ENST00000523390.1	+	1	1035	c.1035C>T	c.(1033-1035)ttC>ttT	p.F345F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGACATTCATGTCCTTCT	0.443000													8	20					0	0	0.000157383	0	0
DNAH8	1769	broad.mit.edu	37	6	38810452	38810452	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:38810452C>T	ENST00000359357.3	+	33	4221	c.3967C>T	c.(3967-3969)Cca>Tca	p.P1323S	DNAH8_ENST00000449981.2_Missense_Mutation_p.P1540S|DNAH8_ENST00000441566.1_Missense_Mutation_p.P1323S					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TCGTAAACTTCCAAAAGGACT	0.328000													32	56					0	0	0.000491102	0	0
TENM3	55714	broad.mit.edu	37	4	183522260	183522260	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr4:183522260C>T	ENST00000511685.1	+	4	818	c.695C>T	c.(694-696)tCc>tTc	p.S232F	TENM3_ENST00000406950.2_Missense_Mutation_p.S232F					teneurin transmembrane protein 3																		ACACCCGAGTCCGTCCAGCTG	0.532000													33	56					0	0	0.00148497	0	0
OR2B6	26212	broad.mit.edu	37	6	27925712	27925712	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:27925712G>A	ENST00000244623.1	+	1	694	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGTCTGCTGAAGGTCGACA	0.438000													37	75					0	0	0.00111076	0	0
INSRR	3645	broad.mit.edu	37	1	156815164	156815164	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:156815164C>T	ENST00000368195.3	-	11	2612	c.2216_splice	c.e11+1	p.R739_splice	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	739					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCTGCTCACCTTTGGGGGCT	0.667000													9	26					0	0	0.000673444	0	0
WBP11P1	441818	broad.mit.edu	37	18	30092777	30092777	+	RNA	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:30092777C>T	ENST00000567636.1	+	0	1152					NR_003558.1																						GAACTGACTCCTCTTCAAGCC	0.438000													12	27					0	0	0.000978159	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57069943	57069943	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:57069943G>A	ENST00000532437.1	-	6	4984	c.4673C>T	c.(4672-4674)tCc>tTc	p.S1558F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1558F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1558	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAATGAAGGAGAAGTCCTG	0.637000													4	5					0	0	0.00024832	0	0
F13A1	2162	broad.mit.edu	37	6	6305692	6305692	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:6305692C>T	ENST00000264870.3	-	3	476	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	71					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTGTTGTTTTCATACTTGTCA	0.453000													24	43					0	0	0.00127121	0	0
BSN	8927	broad.mit.edu	37	3	49662727	49662727	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr3:49662727C>T	ENST00000296452.4	+	2	658	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	182					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CACGTCGACCCCCAGCCAGCC	0.592000													8	24					0	0	0.000157383	0	0
TBCD	6904	broad.mit.edu	37	17	80887047	80887047	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:80887047C>T	ENST00000355528.4	+	31	2882	c.2752C>T	c.(2752-2754)Cgt>Tgt	p.R918C	TBCD_ENST00000539345.2_Missense_Mutation_p.R918C	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	918					'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)			TGACCGTTTCCGTGCTCACGC	0.607000													14	18					0	0	0.00074312	0	0
UNC5B	219699	broad.mit.edu	37	10	73046583	73046583	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:73046583C>T	ENST00000335350.6	+	5	1106	c.690C>T	c.(688-690)atC>atT	p.I230I	UNC5B_ENST00000373192.4_Silent_p.I230I	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	230	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CCAAGAACATCGTGGCCAAAC	0.637000													25	55					0	0	0.00178596	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503169	140503169	+	Missense_Mutation	SNP	T	T	G			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140503169T>G	ENST00000194152.1	+	1	1589	c.1589T>G	c.(1588-1590)gTg>gGg	p.V530G		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGTTCCGCGTGGGCGCCTCA	0.672000													11	49					0	0	0.00136819	0	0
DUSP8	1850	broad.mit.edu	37	11	1578618	1578618	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr11:1578618G>A	ENST00000397374.3	-	7	1135	c.1008C>T	c.(1006-1008)acC>acT	p.T336T	DUSP8_ENST00000331588.4_Silent_p.T336T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	336	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTCTCTGAGGTAGGTGGTG	0.801000													12	11					0	0	0.000422831	0	0
RCAN2	10231	broad.mit.edu	37	6	46216633	46216633	+	Splice_Site	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:46216633C>T	ENST00000371374.1	-	3	417	c.225_splice	c.e3-1	p.E76_splice	RCAN2_ENST00000330430.6_Splice_Site_p.E30_splice|RCAN2_ENST00000306764.7_Splice_Site_p.E76_splice|RCAN2_ENST00000405162.1_Splice_Site_p.E76_splice	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	30					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.E30K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TCAAATTTTTCCTGATAAAAA	0.368000													5	27					0	0	0.00116845	0	0
AGAP7	653268	broad.mit.edu	37	10	51465643	51465643	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:51465643C>T	ENST00000374095.5	-	7	938	c.813G>A	c.(811-813)ggG>ggA	p.G271G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	271	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCAGCCATTTCCCACTTCGCT	0.458000													7	142					0	0	0.000978159	0	0
OR1G1	8390	broad.mit.edu	37	17	3030147	3030147	+	Silent	SNP	C	C	T	rs146714964	byFrequency	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:3030147C>T	ENST00000328890.2	-	1	728	c.699G>A	c.(697-699)ggG>ggA	p.G233G		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						CTTTCCGCTTCCCCTGAGCTG	0.488000													16	22					0	0	0.00121646	0	0
RASGRF2	5924	broad.mit.edu	37	5	80366339	80366339	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:80366339G>A	ENST00000265080.4	+	4	639	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	191					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	p.R191Q(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAAAGAACGAATGCGACCT	0.423000													15	67					0	0	0.000566183	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:121761086G>A	ENST00000261367.7	+	7	2611	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000379536.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000													21	95					0	0	0.000586117	0	0
TTN	7273	broad.mit.edu	37	2	179611971	179611971	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:179611971G>A	ENST00000360870.5	-	46	15378	c.15156C>T	c.(15154-15156)tcC>tcT	p.S5052S	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1159	Ig-like 31.						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)			CTGGGGGTGTGGAGTATCTTT	0.483000													8	27					0	0	0.000157383	0	0
KREMEN1	83999	broad.mit.edu	37	22	29533586	29533586	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr22:29533586C>T	ENST00000400338.2	+	6	941	c.888C>T	c.(886-888)gtC>gtT	p.V296V	KREMEN1_ENST00000407188.1_Silent_p.V294V|KREMEN1_ENST00000327813.5_Silent_p.V296V|KREMEN1_ENST00000400335.4_Silent_p.V296V			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	294	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCTTCAACGTCTCTCTGGACT	0.547000													15	30					0	0	0.000422831	0	0
SDK2	54549	broad.mit.edu	37	17	71354325	71354325	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:71354325C>T	ENST00000392650.3	-	40	5486	c.5486G>A	c.(5485-5487)gGc>gAc	p.G1829D	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Missense_Mutation_p.G1810D	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1829	Fibronectin type-III 13.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GATGGGCACGCCAGGCGGTCC	0.647000													42	101					0	0	0.000437636	0	0
ACE	1636	broad.mit.edu	37	17	61564371	61564371	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:61564371G>A	ENST00000577647.1	+	4	565	c.520G>A	c.(520-522)Gaa>Aaa	p.E174K	ACE_ENST00000290866.4_Missense_Mutation_p.E748K|ACE_ENST00000413513.3_Missense_Mutation_p.E174K|ACE_ENST00000290863.6_Missense_Mutation_p.E174K|ACE_ENST00000490216.2_Missense_Mutation_p.E174K|ACE_ENST00000428043.1_Missense_Mutation_p.E748K|ACE_ENST00000421982.2_Missense_Mutation_p.E58K			P12821	ACE_HUMAN	angiotensin I converting enzyme	748	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTTGGATATGGAAACCACCTA	0.592000													40	55					0	0	0.000781405	0	0
PCDHA3	56145	broad.mit.edu	37	5	140181796	140181796	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr5:140181796C>T	ENST00000522353.2	+	1	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.L338L|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398000													31	35					0	0	0.000409698	0	0
ZNF556	80032	broad.mit.edu	37	19	2878181	2878181	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:2878181G>A	ENST00000586426.1	+	4	1309	c.1222G>A	c.(1222-1224)Ggg>Agg	p.G408R	ZNF556_ENST00000307635.2_Missense_Mutation_p.G409R			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ACCTTCAGGCGGGCTTTGCTC	0.458000													39	44					0	0	0.000437636	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161163784	161163784	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:161163784G>A	ENST00000367996.4	-	5	1917	c.1489C>T	c.(1489-1491)Ccc>Tcc	p.P497S		NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	497	Disintegrin.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GCCTGTGCGGGCCCGCAGGGT	0.672000													15	22					0	0	0.000566183	0	0
COL4A1	1282	broad.mit.edu	37	13	110826835	110826835	+	Missense_Mutation	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:110826835G>A	ENST00000375820.4	-	39	3485	c.3364C>T	c.(3364-3366)Ctc>Ttc	p.L1122F		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1122	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AATCCTGGGAGGCCTTTGTCA	0.493000													13	28					0	0	0.00074312	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399359	89399359	+	RNA	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr2:89399359C>T	ENST00000479981.1	-	0	370																											GGGAGGGTAACTATTATACTG	0.512000													8	30					0	0	0.00136819	0	0
B4GALT5	9334	broad.mit.edu	37	20	48273116	48273116	+	Missense_Mutation	SNP	A	A	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:48273116A>T	ENST00000371711.4	-	2	426	c.239T>A	c.(238-240)gTa>gAa	p.V80E		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	80					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TGAGTCATTTACACTGCTGTT	0.433000													19	199					0	0	0.00047179	0	0
ATP7B	540	broad.mit.edu	37	13	52542601	52542601	+	Silent	SNP	G	G	A	rs138962570	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:52542601G>A	ENST00000242839.4	-	4	1842	c.1686C>T	c.(1684-1686)tcC>tcT	p.S562S	ATP7B_ENST00000418097.2_Silent_p.S562S|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.S451S|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000542656.1_Intron|ATP7B_ENST00000344297.5_Silent_p.S562S|ATP7B_ENST00000448424.2_Silent_p.S562S	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	562					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		TGTTGCCATCGGAGCCTGCGT	0.502000									Wilson disease				7	12					0	0	0.000157383	0	0
LSS	4047	broad.mit.edu	37	21	47627360	47627360	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr21:47627360G>A	ENST00000397728.3	-	15	1527	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	LSS_ENST00000356396.4_Silent_p.L483L|LSS_ENST00000457828.2_Silent_p.L403L|LSS_ENST00000522411.1_Silent_p.L472L	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	483					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CAGCATCGCAGAGCCGTTCTC	0.612000													4	13					0	0	0.00116845	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687116	68687116	+	Silent	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr10:68687116C>T	ENST00000361320.4	+	2	1020	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000494580.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	148						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GCTGCATTCTCTGGGATCTGA	0.438000													20	91					0	0	0.00188189	0	0
PIK3C3	5289	broad.mit.edu	37	18	39613899	39613899	+	Missense_Mutation	SNP	C	C	T			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr18:39613899C>T	ENST00000262039.4	+	16	1903	c.1817C>T	c.(1816-1818)cCg>cTg	p.P606L	PIK3C3_ENST00000593098.1_Missense_Mutation_p.P91L|PIK3C3_ENST00000398870.3_Missense_Mutation_p.P543L	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	606					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GGAATAATTCCGGAAACAGCT	0.358000										TSP Lung(28;0.18)			15	45					0	0	0.000566183	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79056996	79056996	+	Silent	SNP	G	G	A			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:79056996G>A	ENST00000388820.4	-	20	4530	c.4320C>T	c.(4318-4320)tcC>tcT	p.S1440S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1440	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CATCCCGGCCGGAGCTACAGC	0.716000													6	5					0	0	0.00116845	0	0
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121137791	121137793	+	RNA	DEL	CCA	CCA	-	rs28552466	by1000genomes	TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr1:121137791_121137793delCCA	ENST00000437515.1	-	0	329																											ATTTCGCCCTCCACCGCCGCCGC	0.631													3	3	---	---	---	---					
SMAP1	60682	broad.mit.edu	37	6	71508370	71508370	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr6:71508370delA	ENST00000370455.3	+	6	754	c.506delA	c.(505-507)gafs	p.E169fs	SMAP1_ENST00000316999.5_Frame_Shift_Del_p.E142fs|SMAP1_ENST00000370452.3_Frame_Shift_Del_p.E142fs	NM_001044305.1	NP_001037770.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						aaagaaaaggaaaaaaaaaag	0.289													3	6	---	---	---	---					
CKAP2	26586	broad.mit.edu	37	13	53048016	53048016	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr13:53048016delT	ENST00000378037.5	+	8	1692	c.1602delT	c.(1600-1602)agfs	p.S534fs	CKAP2_ENST00000490903.1_Frame_Shift_Del_p.S485fs|CKAP2_ENST00000258607.5_Frame_Shift_Del_p.S533fs	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	534					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAGAAGTCAGTATTGAAGATA	0.323													35	42	---	---	---	---					
RP11-266O8.1	0	broad.mit.edu	37	15	93974511	93974511	+	RNA	DEL	T	T	-	rs57286078		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr15:93974511delT	ENST00000543286.1	+	0	545																											GGCTGGGTTCttttttttttt	0.433													5	11	---	---	---	---					
WWP2	11060	broad.mit.edu	37	16	69973005	69973005	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr16:69973005delG	ENST00000359154.2	+	22	2520	c.2419delG	c.(2419-2421)ggfs	p.G808fs	WWP2_ENST00000356003.2_Frame_Shift_Del_p.G808fs|WWP2_ENST00000448661.1_Frame_Shift_Del_p.G808fs|WWP2_ENST00000542271.1_Frame_Shift_Del_p.G692fs|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000568684.1_Frame_Shift_Del_p.G369fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	808	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGCCCGTCGGGGGATTTGC	0.597													2	4	---	---	---	---					
KRT17P1	147228	broad.mit.edu	37	17	16748911	16748913	+	RNA	DEL	GCT	GCT	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr17:16748911_16748913delGCT	ENST00000580363.1	-	0	282_284																				lung(4)	4						CGCCCTCAAAGCTGCTGCTGCCA	0.650													4	5	---	---	---	---					
TBC1D17	79735	broad.mit.edu	37	19	50390749	50390750	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr19:50390749_50390750delCT	ENST00000221543.5	+	14	1760_1761	c.1461_1462delCT	c.(1459-1464)ggctfs	p.GS487fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.GS454fs	NM_024682.2	NP_078958.2	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	487	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGGACTCCGGCTCTCTCTGCTT	0.594													9	18	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													2	4	---	---	---	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-DA-A1I1-06A-12D-A196-08	TCGA-DA-A1I1-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50a13ad0-be19-4cd6-8081-ec07e81a25d5	b01288ef-1511-49c4-89f3-8c2e983d5b52	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			3	6	---	---	---	---					
