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
TJP1	7082	broad.mit.edu	37	15	30024898	30024898	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:30024898C>T	uc001zcr.3	-	13	2333	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	TJP1_uc010azl.3_Missense_Mutation_p.D608N|TJP1_uc001zcq.3_Missense_Mutation_p.D624N|TJP1_uc001zcs.3_Missense_Mutation_p.D620N	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	620	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGGACAAATCCTCTCTGCTT	0.433000													46	95					0	0	1	0	0
IGH	0	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:32070612A>C	uc002ecv.1	+	0		c.65A>C								Homo sapiens IGH mRNA for immunoglobulin heavy chain VHDJ region, partial cds, clone:H233.																		GGTCTCCTGCAAGGCTTCTGG	0.552000													4	87					0	0	1	0	0
SART1	9092	broad.mit.edu	37	11	65733982	65733982	+	Silent	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:65733982A>G	uc001ogl.3	+	8	1235	c.1143A>G	c.(1141-1143)acA>acG	p.T381T	SART1_uc010rot.1_3'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	381					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCTGAGCACAGTGGGGCCCC	0.677000													5	15					0	0	1	0	0
SLC17A7	57030	broad.mit.edu	37	19	49933845	49933845	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:49933845C>T	uc002pnp.3	-	11	1786	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	SLC17A7_uc002pno.3_Silent_p.P200P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	538	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CATAGGAGGGCGGGGGTGCAG	0.647000													9	8					0	0	1	0	0
PIK3R1	5295	broad.mit.edu	37	5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)			40	70					0	0	1	0	0
ITGAL	3683	broad.mit.edu	37	16	30530025	30530025	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:30530025C>T	uc002dyi.4	+	28	3389	c.3213C>T	c.(3211-3213)aaC>aaT	p.N1071N	ITGAL_uc002dyj.4_Silent_p.N987N|ITGAL_uc010vev.2_Silent_p.N305N	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1071					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGGCAGCAACGCCTCCCTGG	0.612000													12	45					0	0	1	0	0
GRPEL2	134266	broad.mit.edu	37	5	148727842	148727842	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:148727842C>T	uc003lqj.3	+	1	211	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	GRPEL2_uc011dca.2_Missense_Mutation_p.P29S	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	29					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGGATGGCCGCTTCCATT	0.517000													28	105					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35923243	35923243	+	Splice_Site	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:35923243A>G	uc021rid.1	+	37	6438	c.5904_splice	c.e37-2	p.R1968_splice	NBEA_uc021ric.1_Splice_Site_p.R1965_splice|NBEA_uc010abi.3_Splice_Site_p.R624_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1968						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTCTTTTTAGATTACTGTG	0.313000													16	40					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62272736	62272736	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:62272736G>A	uc002yfr.1	-	4	580	c.498C>T	c.(496-498)gcC>gcT	p.A166A	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	166					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGCGCACCTCGGCCGCGTGCA	0.716000													5	3					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192264	123192264	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr4:123192264G>A	uc003ieh.3	+	44	7630	c.7585G>A	c.(7585-7587)Gtg>Atg	p.V2529M	KIAA1109_uc003iel.1_Missense_Mutation_p.V464M|KIAA1109_uc003iek.2_Missense_Mutation_p.V1148M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2529					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAAAGTCCGTGTGCACCCC	0.438000													52	143					0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711827	140711827	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140711827C>T	uc003lji.2	+	0	1576	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R526W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	528	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGTTCCGGGACATGCA	0.587000													72	255					0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937282	26937282	+	Silent	SNP	G	G	A	rs146078388	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:26937282G>A	uc003acw.3	-	2	656	c.315C>T	c.(313-315)cgC>cgT	p.R105R	TPST2_uc003acx.3_Silent_p.R105R|TPST2_uc011akf.1_Silent_p.R105R	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	105					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGCCAGCACGCGCGGGATGA	0.706000													7	25					0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66500810	66500810	+	RNA	SNP	G	G	A	rs142815546	by1000genomes	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:66500810G>A	uc004aed.1	+	2		c.903G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		ACCTACGGTCGGTTGTGTGCA	0.637000													8	18					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50099412	50099412	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:50099412C>T	uc003cyc.3	+	14	2705	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P	RBM6_uc010hlc.2_Silent_p.P338P|RBM6_uc003cyd.3_Silent_p.P297P|RBM6_uc011bdi.2_Silent_p.P161P|RBM6_uc003cye.3_Silent_p.P297P|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	819					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCTATGTGCCCCAGGATCCTG	0.438000													20	41					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180679280	180679280	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:180679280G>T	uc003fkq.3	+	10	1255	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	FXR1_uc003fkp.3_Missense_Mutation_p.G254C|FXR1_uc003fkr.3_Missense_Mutation_p.G339C|FXR1_uc011bqj.2_Missense_Mutation_p.G253C|FXR1_uc003fks.3_Missense_Mutation_p.G253C|FXR1_uc011bqk.2_Missense_Mutation_p.G290C|FXR1_uc011bql.2_Missense_Mutation_p.G326C	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	339					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGTATTTGTTGGCACTAAAGA	0.308000													4	123					0.150653	0.152405	1	1	0
REG3G	130120	broad.mit.edu	37	2	79253917	79253917	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:79253917A>G	uc002snw.3	+	2	240	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	REG3G_uc002snx.3_Missense_Mutation_p.Y52C|REG3G_uc010ffu.3_Missense_Mutation_p.Y52C	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	52	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCCTGCTATGCCTTGTTT	0.542000													13	23					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10615122	10615122	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:10615122C>T	uc010rcc.1	-	16	2478	c.2092G>A	c.(2092-2094)Gtt>Att	p.V698I	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.V690I|MRVI1_uc001miw.2_Missense_Mutation_p.V689I|MRVI1_uc001mix.3_Missense_Mutation_p.V383I|MRVI1_uc001miz.2_Missense_Mutation_p.V607I|MRVI1_uc010rcd.1_Missense_Mutation_p.V492I|MRVI1_uc009ygd.1_Missense_Mutation_p.V383I|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	671					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)		ACCACAGCAACGCTGACCCTC	0.517000													30	29					0	0	1	0	0
PAQR8	85315	broad.mit.edu	37	6	52268301	52268301	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:52268301C>T	uc003pao.4	+	1	464	c.290C>T	c.(289-291)gCc>gTc	p.A97V	PAQR8_uc021zal.1_Missense_Mutation_p.A97V	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	97					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.A97A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGGGCCTTTGCCGAGGCTGAG	0.572000													15	66					0	0	1	0	0
CKS2	1164	broad.mit.edu	37	9	91926227	91926227	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:91926227A>G	uc004aqh.3	+	0	115	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	MIR3153_uc022bjn.1_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	Homo sapiens CDC28 protein kinase regulatory subunit 2 (CKS2), mRNA.	7					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						AAGCAGATCTACTACTCGGAC	0.642000													14	17					0	0	1	0	0
SPOPL	339745	broad.mit.edu	37	2	139308482	139308482	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:139308482G>A	uc002tvh.3	+	3	610	c.210G>A	c.(208-210)agG>agA	p.R70R		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	70	MATH.					nucleus		p.L69L(2)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGTGCCTGAGGGTAAACCCAA	0.378000													35	153					0	0	1	0	0
SNORD115-16	100033454	broad.mit.edu	37	15	25444675	25444675	+	Splice_Site	SNP	C	C	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:25444675C>A	uc001yzm.1	+	1		c.82_splice	c.e1+1		SNRPN_uc001yzk.1_Intron|SNRPN_uc010ayo.1_Intron|SNORD115-17_uc001yzn.1_5'Flank					Homo sapiens small nucleolar RNA, C/D box 115-16 (SNORD115-16), small nucleolar RNA.																		ACGCTGAGGCCCAGCCTAGGT	0.493000													73	217					4.20717e-43	4.40993e-43	1	1	0
ABCC10	89845	broad.mit.edu	37	6	43400462	43400462	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:43400462C>T	uc003ouy.1	+	2	959	c.744C>T	c.(742-744)tgC>tgT	p.C248C	ABCC10_uc003ouz.1_Silent_p.C205C	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACATTTGCCGCCTCCCCC	0.642000													3	35					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								60	67					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:216824353C>T	uc001hkw.2	-	2	724	c.551G>A	c.(550-552)cGc>cAc	p.R184H	ESRRG_uc009xdp.1_Missense_Mutation_p.R161H|ESRRG_uc001hky.1_Missense_Mutation_p.R161H|ESRRG_uc001hkz.2_Intron|ESRRG_uc010puc.2_Missense_Mutation_p.R161H|ESRRG_uc001hla.2_Missense_Mutation_p.R161H|ESRRG_uc001hlb.2_Missense_Mutation_p.R161H|ESRRG_uc010pud.2_5'UTR|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.R161H|ESRRG_uc001hld.1_Missense_Mutation_p.R161H|ESRRG_uc001hkx.2_Missense_Mutation_p.R189H|ESRRG_uc009xdo.2_Missense_Mutation_p.R161H|ESRRG_uc001hle.2_Missense_Mutation_p.R161H|ESRRG_uc021piz.1_Missense_Mutation_p.R161H|Mir_598_uc021pjb.1_5'Flank	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R184S(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448000													26	152					0	0	1	0	0
NEDD9	4739	broad.mit.edu	37	6	11190997	11190997	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:11190997A>G	uc003mzv.2	-	4	1272	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	NEDD9_uc010joz.2_Missense_Mutation_p.S369P|NEDD9_uc003mzw.3_Missense_Mutation_p.S223P	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	369					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGGAGAAAGACAATCGGTTG	0.547000													55	49					0	0	1	0	0
ZNF546	339327	broad.mit.edu	37	19	40520711	40520711	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:40520711C>G	uc002oms.2	+	6	1790	c.1534C>G	c.(1534-1536)Ctc>Gtc	p.L512V	ZNF546_uc002omt.2_Missense_Mutation_p.L486V	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGCTATCATCTCACTCAACA	0.403000													41	16					0	0	1	0	0
PPP6R3	55291	broad.mit.edu	37	11	68355456	68355456	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:68355456A>G	uc001onv.3	+	15	1961	c.1694A>G	c.(1693-1695)aAc>aGc	p.N565S	PPP6R3_uc001onw.3_Missense_Mutation_p.N565S|PPP6R3_uc001ony.4_Missense_Mutation_p.N536S|PPP6R3_uc001onx.3_Missense_Mutation_p.N559S|PPP6R3_uc009ysh.3_Missense_Mutation_p.N485S|PPP6R3_uc001onu.3_Missense_Mutation_p.N485S|PPP6R3_uc010rqc.2_Missense_Mutation_p.N333S|PPP6R3_uc010rqd.2_Missense_Mutation_p.N248S|PPP6R3_uc001onz.3_5'UTR|PPP6R3_uc001ooa.3_Missense_Mutation_p.N15S	NM_001164160	NP_001157632	Q5H9R7	PP6R3_HUMAN	Homo sapiens protein phosphatase 6, regulatory subunit 3 (PPP6R3), transcript variant 4, mRNA.	565					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTTGGCTTCAACGATGAGAAG	0.428000													9	223					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472105	28472105	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:28472105G>A	uc021yrx.1	-	4	680	c.630C>T	c.(628-630)gaC>gaT	p.D210D	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	210					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCCAGGATGTCTGACTTGA	0.502000													59	71					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85326612	85326612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:85326612C>T	uc002bld.3	+	3	1042	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	236					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATGCCACTCGATTCTTCGG	0.567000													26	99					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48741328	48741328	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:48741328C>G	uc002isl.3	+	9	1274	c.1194C>G	c.(1192-1194)aaC>aaG	p.N398K	ABCC3_uc002isk.4_Missense_Mutation_p.N398K|ABCC3_uc002ism.3_Missense_Mutation_p.L111V	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	398	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTATCACCAACTCAGTCAAAC	0.587000													8	90					0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180804077	180804077	+	Missense_Mutation	SNP	A	A	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:180804077A>C	uc001goi.3	+	9	1394	c.1202A>C	c.(1201-1203)aAc>aCc	p.N401T	XPR1_uc009wxm.2_Missense_Mutation_p.N401T|XPR1_uc009wxn.3_Missense_Mutation_p.N401T	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	401						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATCAGCTGAACAGCCTGTCA	0.418000													7	45					0	0	1	0	0
ABHD15	116236	broad.mit.edu	37	17	27893210	27893210	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:27893210C>T	uc002hed.2	-	0	833	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	259						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ATGCAGGCGGCGCCTGTCACG	0.711000													9	3					0	0	1	0	0
MCCC1	56922	broad.mit.edu	37	3	182759530	182759530	+	Silent	SNP	T	T	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:182759530T>C	uc003fle.3	-	10	1229	c.1092A>G	c.(1090-1092)gcA>gcG	p.A364A	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Silent_p.A247A|MCCC1_uc003flg.3_Silent_p.A255A|MCCC1_uc011bqp.1_Silent_p.A317A	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	364	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTTCTCTCCTGCTGCAATCT	0.403000													82	120					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995929	140995929	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chrX:140995929C>T	uc004fbt.3	+	3	3063	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.D572D	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	913	MAGE.						protein binding	p.V912L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488000										HNSCC(15;0.026)			12	182					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3458040	3458040	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:3458040G>A	uc002fvr.2	-	1	427	c.105C>T	c.(103-105)acC>acT	p.T35T	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.T35T|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Silent_p.T35T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	35						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTTGTGGGGGTGATCTCCG	0.657000													25	25					0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38320234	38320234	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:38320234C>T	uc010abx.3	-	2	972	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.R246Q|TRPC4_uc001uws.3_Missense_Mutation_p.R246Q|TRPC4_uc010tey.2_Missense_Mutation_p.R246Q|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.R246Q	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	246					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCACTGCCGTGACAGCTC	0.423000													18	284					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5090496	5090496	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:5090496C>T	uc010mhm.3	+	19	2925	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	JAK2_uc003ziw.3_Nonsense_Mutation_p.R938*	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	938	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAAGTTTACGAGACTATCT	0.313000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				103	21					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841631	100841631	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:100841631G>A	uc003pqj.4	-	9	1769	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	SIM1_uc021zdg.1_Silent_p.C434C|SIM1_uc010kcu.3_Silent_p.C434C	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	434	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCTGTAGGCGCACGATGCGT	0.617000													19	65					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32811758	32811758	+	Missense_Mutation	SNP	C	C	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:32811758C>G	uc001utx.3	+	43	6549	c.6053C>G	c.(6052-6054)aCc>aGc	p.T2018S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2018					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCAAAAACCAGAAGCTCA	0.537000													16	34					0	0	1	0	0
CYP24A1	1591	broad.mit.edu	37	20	52779339	52779339	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:52779339A>T	uc002xwv.2	-	6	1305	c.907T>A	c.(907-909)Tgt>Agt	p.C303S	CYP24A1_uc002xwu.1_Missense_Mutation_p.C161S|CYP24A1_uc002xww.2_Missense_Mutation_p.C303S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	303					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TAAATGTCACAAAGGAAATCT	0.463000													52	55					0	0	1	0	0
ENSA	2029	broad.mit.edu	37	1	150599964	150599964	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:150599964G>A	uc009wly.3	-	1	314	c.162C>T	c.(160-162)ctC>ctT	p.L54L	ENSA_uc001evd.3_Silent_p.L54L|ENSA_uc001eve.3_Silent_p.L54L|ENSA_uc001evg.3_Silent_p.L54L|ENSA_uc001evh.3_Silent_p.L54L|ENSA_uc009wlz.1_Silent_p.L54L|ENSA_uc001evi.3_Silent_p.L54L|ENSA_uc001evb.3_Silent_p.L50L|ENSA_uc001evc.3_Silent_p.L50L|ENSA_uc001evf.3_Silent_p.L50L	NM_207043	NP_997051	O43768	ENSA_HUMAN	Homo sapiens endosulfine alpha (ENSA), transcript variant 2, mRNA.	54					G2/M transition of mitotic cell cycle|cell division|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTCTTCATGAGGAAGTCGG	0.493000													89	81					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113852031	113852031	+	Missense_Mutation	SNP	A	A	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:113852031A>T	uc010rxb.2	+	3	622	c.389A>T	c.(388-390)gAg>gTg	p.E130V	HTR3A_uc010rxa.2_Missense_Mutation_p.E130V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.E109V	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	124					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.G129W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCATCAATGAGTTGTGAGTA	0.512000													23	32					0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910063	39910063	+	Silent	SNP	C	C	T	rs144527032	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:39910063C>T	uc001zki.3	-	10	1790	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	524										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CAAGAGTCTTCGACATAAAAT	0.398000													84	51					0	0	1	0	0
MDGA2	161357	broad.mit.edu	37	14	47311142	47311142	+	Silent	SNP	G	G	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:47311142G>T	uc001wwj.4	-	16	3228	c.3070C>A	c.(3070-3072)Cga>Aga	p.R1024R	MDGA2_uc001wwh.4_Silent_p.R157R|MDGA2_uc001wwi.4_Silent_p.R726R	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	955					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCACCTTCGAGGACTTAAG	0.388000													3	53					1	1	1	1	0
DLG2	1740	broad.mit.edu	37	11	84996386	84996386	+	Missense_Mutation	SNP	T	T	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:84996386T>G	uc001pak.2	-	3	376	c.64A>C	c.(64-66)Aca>Cca	p.T22P		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA.	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTAGCAATGTCACCTCATAA	0.348000													7	166					0	0	1	0	0
NEGR1	257194	broad.mit.edu	37	1	72748110	72748110	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:72748110C>T	uc001dfw.3	-	0	296	c.68G>A	c.(67-69)aGc>aAc	p.S23N	NEGR1_uc010oqs.2_Missense_Mutation_p.S23N	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	23					cell adhesion	anchored to membrane|plasma membrane		p.S23N(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627000													6	14					0	0	1	0	0
SUMF1	285362	broad.mit.edu	37	3	4491010	4491010	+	Silent	SNP	G	G	A	rs148557574		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:4491010G>A	uc003bpz.2	-	2	496	c.459C>T	c.(457-459)ggC>ggT	p.G153G	SUMF1_uc003bps.2_Non-coding_Transcript|SUMF1_uc011ass.2_Intron|SUMF1_uc010hby.2_Silent_p.G153G|SUMF1_uc011ast.2_Intron	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA.	153						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CAAAGGAGTCGCCAAACTTCT	0.403000													104	145					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35802842	35802842	+	Silent	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:35802842C>T	uc002nyy.2	+	9	1836	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MAG_uc002nyx.2_Silent_p.P546P|MAG_uc010eds.2_Silent_p.P521P|MAG_uc002nyz.2_Silent_p.P546P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	546					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.S545R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGAGCCCCAGCTTCTCGG	0.607000													11	1					0	0	1	0	0
SLA	6503	broad.mit.edu	37	8	134050855	134050855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr8:134050855G>A	uc011ljd.2	-	6	943	c.865C>T	c.(865-867)Cga>Tga	p.R289*	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Nonsense_Mutation_p.R249*|SLA_uc011lje.2_Nonsense_Mutation_p.R266*|SLA_uc011ljf.2_Nonsense_Mutation_p.R141*|SLA_uc011ljg.2_Nonsense_Mutation_p.R222*	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	249						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTTCTTTCGATCAAAGGAG	0.498000													61	196					0	0	1	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:96521777T>C	uc002suz.1	-	30	2790	c.1313A>G	c.(1312-1314)cAt>cGt	p.H438R						SubName: Full=Uncharacterized protein;									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	44					0	0	1	0	0
SHOC2	8036	broad.mit.edu	37	10	112745430	112745430	+	Missense_Mutation	SNP	C	C	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr10:112745430C>A	uc001kzl.4	+	2	1097	c.748C>A	c.(748-750)Ctt>Att	p.L250I	SHOC2_uc009xxx.3_Missense_Mutation_p.L250I|SHOC2_uc010qrg.2_5'UTR|SHOC2_uc001kzn.3_Intron	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	250					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCACAATCAACTTGAACACCT	0.368000													9	91					0.000442599	0.000453013	1	1	0
MIPEP	4285	broad.mit.edu	37	13	24411745	24411745	+	Missense_Mutation	SNP	T	T	C			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:24411745T>C	uc001uox.4	-	12	1617	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	497					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.M497I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCATGTCCCATTTCATGGAAA	0.438000													57	202					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70504174	70504174	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:70504174G>A	uc001dep.3	+	18	2583	c.2553G>A	c.(2551-2553)ccG>ccA	p.P851P	LRRC7_uc009wbg.3_Silent_p.P135P|LRRC7_uc001deq.3_Silent_p.P92P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	851						centrosome|focal adhesion|nucleolus	protein binding	p.S850C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCTAGTCCGTTTGAAGACA	0.478000													75	11					0	0	1	0	0
NCF2	4688	broad.mit.edu	37	1	183543623	183543623	+	Splice_Site	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:183543623C>T	uc001gqj.4	-	4	776	c.501_splice	c.e4+1	p.W167_splice	NCF2_uc010pod.2_Intron|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Splice_Site_p.W167_splice	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	167					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TACGCTTACCCAGACACACTC	0.463000													138	157					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10997737	10997737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:10997737C>T	uc002daj.4	+	8	1058	c.925C>T	c.(925-927)Cga>Tga	p.R309*	CIITA_uc002dai.4_Nonsense_Mutation_p.R308*|CIITA_uc002dak.4_Nonsense_Mutation_p.R259*|CIITA_uc002dag.2_Nonsense_Mutation_p.R308*|CIITA_uc002dah.2_Nonsense_Mutation_p.R260*|CIITA_uc010bup.1_Nonsense_Mutation_p.R308*	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	308					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGACCTCCCGAGCAAACAT	0.592000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								30	99					0	0	1	0	0
RPL7A	6130	broad.mit.edu	37	9	136217156	136217156	+	Silent	SNP	C	C	T	rs142456845	by1000genomes	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:136217156C>T	uc004cde.1	+	4	507	c.477C>T	c.(475-477)caC>caT	p.H159H	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522000													9	35					0	0	1	0	0
LRCH3	84859	broad.mit.edu	37	3	197559180	197559180	+	Missense_Mutation	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:197559180A>G	uc011bul.1	+	7	1099	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	LRCH3_uc003fyj.1_Missense_Mutation_p.N365S|LRCH3_uc011bum.1_Missense_Mutation_p.N365S|LRCH3_uc011bun.1_Missense_Mutation_p.N239S|LRCH3_uc003fyk.2_5'UTR	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	365						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTAGTAACAAACGGCGGAGGT	0.408000													17	57					0	0	1	0	0
SDHAP2	727956	broad.mit.edu	37	3	195400728	195400728	+	Silent	SNP	A	A	G	rs12107841	by1000genomes	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:195400728A>G	uc003fuw.3	+	8	1218	c.24A>G	c.(22-24)ccA>ccG	p.P8P	SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_Non-coding_Transcript|SDHAP2_uc003fuv.3_Non-coding_Transcript					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 2 (SDHAP2), non-coding RNA.																		GATTGTGCCCAGCCTGTACGC	0.587000													7	39					0	0	1	0	0
MARK1	4139	broad.mit.edu	37	1	220831178	220831178	+	Splice_Site	SNP	T	T	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:220831178T>G	uc009xdw.3	+	17	2633	c.2036_splice	c.e17+2	p.R679_splice	MARK1_uc001hmn.4_Splice_Site_p.R678_splice|MARK1_uc010pun.2_Intron|MARK1_uc001hmm.4_Intron	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	678					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CACCTCAAGGTGAGGAGCCAC	0.378000													4	14					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785266	1785266	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:1785266G>A	uc002ltw.3	-	26	3658	c.3424C>T	c.(3424-3426)Ctg>Ttg	p.L1142L	ATP8B3_uc002ltv.3_Silent_p.L1105L|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1142					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E1141D(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGCACAGGGCGGTCCAG	0.607000													3	14					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5587939	5587939	+	Missense_Mutation	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:5587939G>A	uc002mcd.3	-	18	2790	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	860	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.R860L(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGCCAGGCGCGTGCCTGGTGC	0.662000													4	12					0	0	1	0	0
MICALL1	85377	broad.mit.edu	37	22	38323452	38323452	+	Silent	SNP	G	G	A			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:38323452G>A	uc003aui.3	+	8	1775	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	500	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACTCGGAGCCGCCCTCGGCCA	0.687000													11	15					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157491079	157491079	+	Missense_Mutation	SNP	G	G	A	rs142943534		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:157491079G>A	uc009wsm.3	-	10	2401	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	FCRL5_uc001fqu.3_Missense_Mutation_p.P748L	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	748						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCGAGACACCGGAACTGAAAG	0.498000													12	53					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481839	140481839	+	Missense_Mutation	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140481839C>T	uc003lio.3	+	0	1606	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGTGGCTCCCC	0.672000													17	55					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:160093040G>T	uc001fvc.3	+	3	347	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_uc001fvb.2_Missense_Mutation_p.R72L|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	72					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R72L(2)|p.A71S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642000													16	101					4.7546e-09	4.92441e-09	1	1	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2542	2542	+	RNA	SNP	C	C	T			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chrGL000237.1:2542C>T	uc011mgu.1	-	0		c.145G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		acactccagccgcgctgccat	0.632000													2	3					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884933	23884933	+	Silent	SNP	A	A	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:23884933A>G	uc001wjx.3	-	34	5168	c.5062T>C	c.(5062-5064)Ttg>Ctg	p.L1688L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1688					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGGCACGCAACTCCTCCAGC	0.622000													3	55					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133486435	133486436	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:133486435_133486436insG	uc002ttp.3	-	17	5907_5908	c.5533_5534insC	c.(5533-5535)cagfs	p.Q1845fs	NCKAP5_uc002ttq.3_Frame_Shift_Ins_p.Q526fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1845							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAAGCGGCTGGCTTGCCATT	0.545													9	355	---	---	---	---					
C4orf17	84103	broad.mit.edu	37	4	100443782	100443782	+	Frame_Shift_Del	DEL	T	T	-	rs13119384	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr4:100443782delT	uc003huw.3	+	2	615	c.253delT	c.(253-255)tccfs	p.S85fs	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	85			S -> P (in dbSNP:rs13119384).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CAGTTACCCCTCCAGCACTGC	0.498													23	107	---	---	---	---					
ZCCHC9	84240	broad.mit.edu	37	5	80607067	80607070	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:80607067_80607070delAAAG	uc003khk.4	+	4	1156_1159	c.666_669delAAAG	c.(664-669)ttaaagfs	p.L222fs	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Frame_Shift_Del_p.L222fs|ZCCHC9_uc003khj.3_Frame_Shift_Del_p.L222fs	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	222							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGGAACATTTAAAGAAAGATTGCC	0.417													190	349	---	---	---	---					
TMCO6	55374	broad.mit.edu	37	5	140024213	140024214	+	Frame_Shift_Ins	INS	-	-	G	rs4147626		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140024213_140024214insG	uc003lgm.3	+	10	1375_1376	c.1274_1275insG	c.(1273-1275)ctgfs	p.L425fs	TMCO6_uc003lgl.3_Frame_Shift_Ins_p.L419fs|TMCO6_uc010jft.3_Frame_Shift_Ins_p.L179fs|TMCO6_uc003lgn.3_Frame_Shift_Ins_p.L310fs|TMCO6_uc003lgo.3_Frame_Shift_Ins_p.L179fs	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	419					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGCGGCTGTGGCCAGGGC	0.510													9	426	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573309	9573309	+	RNA	DEL	G	G	-	rs66804813		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr12:9573309delG	uc021qut.1	-	10		c.2089delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagCCCCCATGGA	0.582													7	14	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:3119304_3119305insG	uc002ctq.3	+	5	748_749	c.653_654insG	c.(652-654)gacfs	p.D218fs	IL32_uc002ctn.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctk.3_Frame_Shift_Ins_p.D115fs|IL32_uc002cto.3_Frame_Shift_Ins_p.D218fs|IL32_uc010uwp.2_Frame_Shift_Ins_p.D152fs|IL32_uc010btb.3_Frame_Shift_Ins_p.D162fs|IL32_uc002ctl.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctm.3_Frame_Shift_Ins_p.D172fs|IL32_uc002ctp.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctr.3_Frame_Shift_Ins_p.D152fs|IL32_uc002ctt.3_Frame_Shift_Ins_p.D172fs|IL32_uc010uwr.2_Frame_Shift_Ins_p.D132fs|IL32_uc002ctu.3_Frame_Shift_Ins_p.D163fs|IL32_uc021tbc.1_Non-coding_Transcript	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													10	309	---	---	---	---					
