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
PRDM16	63976	broad.mit.edu	37	1	3328642	3328642	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:3328642C>T	ENST00000378398.3	+	10	1966	c.1884C>T	c.(1882-1884)agC>agT	p.S628S	PRDM16_ENST00000378391.2_Silent_p.S627S|PRDM16_ENST00000442529.2_Silent_p.S627S|PRDM16_ENST00000511072.1_Silent_p.S628S|PRDM16_ENST00000514189.1_Silent_p.S628S|PRDM16_ENST00000441472.2_Silent_p.S627S|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000270722.5_Silent_p.S627S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	627					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		ACCTGGACAGCGACGTGGACA	0.687			T	EVI1	"""MDS, AML"""								36	113	---	---	---	---
GPBP1L1	60313	broad.mit.edu	37	1	46105995	46105995	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:46105995A>T	ENST00000355105.3	-	8	1991	c.631T>A	c.(631-633)Tct>Act	p.S211T	GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S211T	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AATGCAGCAGAGAAGGCAGCA	0.473													24	238	---	---	---	---
C1orf146	388649	broad.mit.edu	37	1	92709886	92709886	+	Silent	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:92709886G>A	ENST00000370373.2	+	5	560	c.96G>A	c.(94-96)ttG>ttA	p.L32L	C1orf146_ENST00000370375.3_Silent_p.L91L			Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146	91										breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		TTTTGGTTTTGTCTGCTGCCC	0.328													10	25	---	---	---	---
PRMT6	55170	broad.mit.edu	37	1	107600027	107600027	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:107600027C>T	ENST00000361318.5	+	1	761	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PRMT6_ENST00000370078.1_Silent_p.L230L	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	230					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CGCGCTGTCTCATGGGCCACT	0.657													35	77	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415767	145415767	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:145415767A>C	ENST00000336751.5	+	3	824	c.586A>C	c.(586-588)Aat>Cat	p.N196H	HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron|HFE2_ENST00000357836.5_Missense_Mutation_p.N83H	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	196					axon guidance	anchored to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTACTGGATAATGACTTCCT	0.587													45	125	---	---	---	---
ETV3	2117	broad.mit.edu	37	1	157105282	157105282	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr1:157105282T>A	ENST00000368192.4	-	3	329	c.265A>T	c.(265-267)Aag>Tag	p.K89*	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Nonsense_Mutation_p.K89*	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	89							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				CGGCTCAGCTTGTCATAATTC	0.498													22	39	---	---	---	---
TACR1	6869	broad.mit.edu	37	2	75347894	75347894	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:75347894C>G	ENST00000305249.5	-	2	1155	c.390G>C	c.(388-390)agG>agC	p.R130S	TACR1_ENST00000409848.3_Splice_Site_p.R130S	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGGCCATGTACCTGGAACAGA	0.483													22	38	---	---	---	---
KANSL1L	151050	broad.mit.edu	37	2	210993896	210993896	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:210993896A>G	ENST00000281772.9	-	3	1352	c.1089T>C	c.(1087-1089)gtT>gtC	p.V363V	KANSL1L_ENST00000457374.1_Splice_Site_p.V363V|KANSL1L_ENST00000418791.1_Splice_Site_p.V363V|KANSL1L_ENST00000452086.1_Splice_Site_p.V363V	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	363																	TACTACAGTTACTGTGAACAA	0.403													30	85	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219900337	219900337	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:219900337C>G	ENST00000341552.5	-	5	490	c.407G>C	c.(406-408)aGa>aCa	p.R136T	CCDC108_ENST00000453220.1_Missense_Mutation_p.R136T|CCDC108_ENST00000441968.1_Missense_Mutation_p.R136T|CCDC108_ENST00000409865.3_Missense_Mutation_p.R125T|CCDC108_ENST00000410037.1_Missense_Mutation_p.R71T|CCDC108_ENST00000295729.2_Missense_Mutation_p.R71T|CCDC108_ENST00000324264.6_Missense_Mutation_p.R71T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	136						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGTTCACTCTCTCCTGCTT	0.547													42	106	---	---	---	---
SLC4A7	9497	broad.mit.edu	37	3	27459989	27459989	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr3:27459989A>C	ENST00000295736.5	-	11	1690	c.1620T>G	c.(1618-1620)agT>agG	p.S540R	SLC4A7_ENST00000440156.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000445684.1_Missense_Mutation_p.S536R|SLC4A7_ENST00000454389.1_Missense_Mutation_p.S549R|SLC4A7_ENST00000435667.2_Missense_Mutation_p.S425R|SLC4A7_ENST00000437179.1_Missense_Mutation_p.S421R|SLC4A7_ENST00000388777.4_Missense_Mutation_p.S90R|SLC4A7_ENST00000446700.1_Missense_Mutation_p.S532R|SLC4A7_ENST00000428386.1_Missense_Mutation_p.S416R|SLC4A7_ENST00000425128.2_Missense_Mutation_p.S532R|SLC4A7_ENST00000455077.1_Missense_Mutation_p.S421R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	540						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GAGAAGGGACACTTTTTGGTG	0.353													8	32	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62599226	62599226	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:62599226C>T	ENST00000512091.2	+	7	1896	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	LPHN3_ENST00000506746.1_Silent_p.H451H|LPHN3_ENST00000507164.1_Silent_p.H451H|LPHN3_ENST00000508693.1_Silent_p.H451H|LPHN3_ENST00000514996.1_Silent_p.H383H|LPHN3_ENST00000509896.1_Silent_p.H451H|LPHN3_ENST00000506700.1_Silent_p.H383H|LPHN3_ENST00000545650.1_Silent_p.H383H|LPHN3_ENST00000514157.1_Silent_p.H383H|LPHN3_ENST00000508946.1_Silent_p.H383H|LPHN3_ENST00000507625.1_Silent_p.H451H|LPHN3_ENST00000514591.1_Silent_p.H383H|LPHN3_ENST00000506720.1_Silent_p.H451H|LPHN3_ENST00000504896.1_Silent_p.H383H|LPHN3_ENST00000511324.1_Silent_p.H451H			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ATAACTATCACGTCGTGAAAT	0.388													10	32	---	---	---	---
PCDH18	54510	broad.mit.edu	37	4	138451634	138451634	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:138451634C>A	ENST00000344876.4	-	1	1995	c.1609G>T	c.(1609-1611)Gaa>Taa	p.E537*	PCDH18_ENST00000412923.2_Nonsense_Mutation_p.E537*|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Nonsense_Mutation_p.E317*|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	537	Cadherin 5.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGACTCACTTCTTCATGATCA	0.418													48	132	---	---	---	---
KLHL2	11275	broad.mit.edu	37	4	166234520	166234520	+	Splice_Site	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:166234520T>C	ENST00000226725.6	+	12	1727		c.e12+2		KLHL2_ENST00000509028.1_Splice_Site|KLHL2_ENST00000538127.1_Splice_Site|KLHL2_ENST00000514860.1_Splice_Site|KLHL2_ENST00000506761.1_Splice_Site|KLHL2_ENST00000421009.2_Splice_Site	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2						intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GTGGAGCAGGTACATGTGAAC	0.383													16	50	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190862186	190862186	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr4:190862186A>T	ENST00000226798.4	+	1	244	c.22A>T	c.(22-24)Aag>Tag	p.K8*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	8	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTCCTACGTGAAGTCTACCAA	0.637											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24	---	---	---	---
SLC25A46	91137	broad.mit.edu	37	5	110097209	110097209	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:110097209C>T	ENST00000355943.3	+	8	1110	c.984C>T	c.(982-984)gaC>gaT	p.D328D	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509442.2_Silent_p.D237D|SLC25A46_ENST00000509432.1_Silent_p.D115D|SLC25A46_ENST00000504098.1_Silent_p.D182D|SLC25A46_ENST00000513807.1_Silent_p.D166D|SLC25A46_ENST00000447245.2_Silent_p.D247D	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	328					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTGTTCTGACGTTATACTTT	0.428													17	340	---	---	---	---
PCYOX1L	78991	broad.mit.edu	37	5	148747557	148747557	+	Splice_Site	SNP	G	G	A	rs34811631		TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:148747557G>A	ENST00000514349.1	+	5	1134	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PCYOX1L_ENST00000274569.4_Splice_Site_p.E275E			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	275					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTTCCAGAGGGGAAAGCCC	0.532											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	101	---	---	---	---
TIMD4	91937	broad.mit.edu	37	5	156378526	156378526	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr5:156378526C>A	ENST00000274532.2	-	3	732	c.676G>T	c.(676-678)Gca>Tca	p.A226S	TIMD4_ENST00000407087.3_Missense_Mutation_p.A226S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	226						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCGTACCTGCAGTGAGGATG	0.532													5	73	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022647	76022647	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:76022647A>C	ENST00000393004.2	-	5	3122	c.2901T>G	c.(2899-2901)agT>agG	p.S967R	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.S868R|FILIP1_ENST00000237172.7_Missense_Mutation_p.S967R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	967										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						TAGTATCTCCACTTTTTTGTT	0.413													40	94	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101098516	101098516	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:101098516T>C	ENST00000369162.2	-	20	3494	c.3150A>G	c.(3148-3150)gtA>gtG	p.V1050V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1050	SEC63 1.		V -> I (in dbSNP:rs9497983).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AACTATTCTCTACACCTCCAG	0.363													28	40	---	---	---	---
LRGUK	136332	broad.mit.edu	37	7	133827909	133827909	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr7:133827909C>A	ENST00000285928.2	+	4	651	c.582C>A	c.(580-582)aaC>aaA	p.N194K		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	194							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CACCCAAAAACCTCAAGGTAG	0.338													5	103	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101206436	101206436	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr8:101206436A>T	ENST00000388798.2	+	10	1227	c.1036A>T	c.(1036-1038)Aac>Tac	p.N346Y	SPAG1_ENST00000520508.1_Missense_Mutation_p.N346Y|SPAG1_ENST00000251809.3_Missense_Mutation_p.N346Y|SPAG1_ENST00000520643.1_Missense_Mutation_p.N346Y	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	346					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		GGAAATAGAAAACTCCGAAGA	0.373													9	20	---	---	---	---
SCUBE2	57758	broad.mit.edu	37	11	9069059	9069059	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:9069059T>C	ENST00000457346.2	-	16	1920	c.1846A>G	c.(1846-1848)Aaa>Gaa	p.K616E	SCUBE2_ENST00000309263.3_Missense_Mutation_p.K587E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000520467.1_Missense_Mutation_p.K616E|SCUBE2_ENST00000450649.2_Missense_Mutation_p.K461E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	587						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CGGATGGCTTTACGGAGCCGC	0.567													15	62	---	---	---	---
MRGPRX2	117194	broad.mit.edu	37	11	19077545	19077545	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:19077545G>C	ENST00000329773.2	-	2	492	c.405C>G	c.(403-405)atC>atG	p.I135M		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	135					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						AGCGATACCAGATGGGCCACA	0.617													7	108	---	---	---	---
DGKZ	8525	broad.mit.edu	37	11	46396525	46396525	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:46396525A>G	ENST00000454345.1	+	20	2329	c.2204A>G	c.(2203-2205)cAc>cGc	p.H735R	DGKZ_ENST00000528615.1_Missense_Mutation_p.H325R|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.H551R|DGKZ_ENST00000456247.2_Missense_Mutation_p.H546R|DGKZ_ENST00000421244.2_Missense_Mutation_p.H547R|DGKZ_ENST00000527911.1_Missense_Mutation_p.H547R|DGKZ_ENST00000343674.6_Missense_Mutation_p.H563R|DGKZ_ENST00000395574.3_Missense_Mutation_p.H513R|DGKZ_ENST00000318201.8_Missense_Mutation_p.H524R	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	735					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCTGGGGAGCACCACGACTTT	0.637													9	31	---	---	---	---
SIPA1	6494	broad.mit.edu	37	11	65410052	65410052	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr11:65410052G>A	ENST00000394224.3	+	4	1222	c.926G>A	c.(925-927)cGc>cAc	p.R309H	SIPA1_ENST00000394227.3_Missense_Mutation_p.R309H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R309H|SIPA1_ENST00000534313.1_Missense_Mutation_p.R309H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	309					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						AGCTGCCTGCGCCTGGGCTCA	0.697													4	17	---	---	---	---
PTPRO	5800	broad.mit.edu	37	12	15710429	15710429	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr12:15710429G>T	ENST00000281171.4	+	16	2929	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	PTPRO_ENST00000442921.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000544244.1_Nonsense_Mutation_p.E56*|PTPRO_ENST00000445537.2_Nonsense_Mutation_p.E56*|PTPRO_ENST00000348962.2_Nonsense_Mutation_p.E867*|PTPRO_ENST00000542557.1_Nonsense_Mutation_p.E56*	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	867						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				TGCATCCTTAGAGAGGGATGG	0.398													21	49	---	---	---	---
ALOX5AP	241	broad.mit.edu	37	13	31318197	31318197	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:31318197G>T	ENST00000380490.3	+	2	169	c.71G>T	c.(70-72)gGa>gTa	p.G24V	ALOX5AP_ENST00000479597.1_3'UTR	NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	24	Inhibitor binding.				cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		CCCTTGGCAGGATTCTTTGCC	0.493													3	29	---	---	---	---
LACC1	144811	broad.mit.edu	37	13	44464253	44464253	+	Silent	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr13:44464253T>C	ENST00000441843.1	+	6	1622	c.1137T>C	c.(1135-1137)atT>atC	p.I379I	LACC1_ENST00000325686.6_Silent_p.I379I	NM_001128303.1	NP_001121775.1	Q8IV20	CM031_HUMAN	laccase (multicopper oxidoreductase) domain containing 1	379																	TCCTAAGGATTCTTCTAGAAC	0.373													6	65	---	---	---	---
EZH1	2145	broad.mit.edu	37	17	40865284	40865284	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:40865284T>C	ENST00000428826.2	-	11	1268	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	EZH1_ENST00000590078.1_Missense_Mutation_p.T313A|EZH1_ENST00000415827.2_Missense_Mutation_p.T374A|EZH1_ENST00000435174.1_Missense_Mutation_p.T244A|EZH1_ENST00000585893.1_Missense_Mutation_p.T343A|EZH1_ENST00000592743.1_Missense_Mutation_p.T383A			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	383					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		CCTTCTTTAGTCTCAGCCACA	0.537													40	68	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr17:47696432A>C	ENST00000393331.3	-	7	861	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)			51	126	---	---	---	---
TCF4	6925	broad.mit.edu	37	18	52901781	52901781	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr18:52901781C>T	ENST00000354452.3	-	16	2095	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	TCF4_ENST00000566286.1_Missense_Mutation_p.R492K|TCF4_ENST00000570287.2_Missense_Mutation_p.R335K|TCF4_ENST00000544241.2_Missense_Mutation_p.R424K|TCF4_ENST00000561831.3_Missense_Mutation_p.R335K|TCF4_ENST00000566279.1_Missense_Mutation_p.R435K|TCF4_ENST00000567880.1_Missense_Mutation_p.R435K|TCF4_ENST00000543082.1_Missense_Mutation_p.R453K|TCF4_ENST00000537578.1_Missense_Mutation_p.R471K|TCF4_ENST00000564403.2_Missense_Mutation_p.R501K|TCF4_ENST00000564228.1_Missense_Mutation_p.R424K|TCF4_ENST00000540999.1_Missense_Mutation_p.R471K|TCF4_ENST00000537856.3_Missense_Mutation_p.R365K|TCF4_ENST00000561992.1_Missense_Mutation_p.R365K|TCF4_ENST00000570177.2_Missense_Mutation_p.R365K|TCF4_ENST00000568673.1_Missense_Mutation_p.R471K|TCF4_ENST00000398339.1_Missense_Mutation_p.R597K|TCF4_ENST00000565018.2_Missense_Mutation_p.R495K|TCF4_ENST00000564999.1_Missense_Mutation_p.R495K|TCF4_ENST00000568740.1_Missense_Mutation_p.R470K|TCF4_ENST00000356073.4_Missense_Mutation_p.R495K|TCF4_ENST00000457482.3_Missense_Mutation_p.R335K	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	495					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAACCTACCTCTGTAAGGGTC	0.557											OREG0024990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	77	---	---	---	---
ZNF230	7773	broad.mit.edu	37	19	44515531	44515531	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr19:44515531C>A	ENST00000429154.2	+	5	1568	c.1340C>A	c.(1339-1341)tCa>tAa	p.S447*		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GGAGAAAACTCATCCAAATGT	0.388													4	75	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32617835	32617835	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr21:32617835C>A	ENST00000286827.3	-	7	2024	c.1553G>T	c.(1552-1554)aGc>aTc	p.S518I	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.S518I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	518	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CAGGGAATTGCTGAGGCAGAA	0.522													4	56	---	---	---	---
DEPDC5	9681	broad.mit.edu	37	22	32270272	32270272	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:32270272C>A	ENST00000400246.1	+	36	3719	c.3577C>A	c.(3577-3579)Ctg>Atg	p.L1193M	DEPDC5_ENST00000539165.1_Missense_Mutation_p.L10M|DEPDC5_ENST00000382105.2_Missense_Mutation_p.L1115M|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.L1093M|DEPDC5_ENST00000266091.3_Missense_Mutation_p.L1171M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.L1162M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.L1193M|DEPDC5_ENST00000382112.3_Missense_Mutation_p.L1184M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.L1162M			O75140	DEPD5_HUMAN	DEP domain containing 5	1162	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGAGTCCAGCTGCTCTCTGA	0.572													3	19	---	---	---	---
PMM1	5372	broad.mit.edu	37	22	41980560	41980560	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr22:41980560A>C	ENST00000216259.7	-	3	337	c.253T>G	c.(253-255)Tat>Gat	p.Y85D	PMM1_ENST00000466645.1_5'UTR	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1	85					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CCGTGCTTATACTGCACCGTC	0.542													4	91	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153039436	153039436	+	Silent	SNP	C	C	T			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chrX:153039436C>T	ENST00000538966.1	+	21	3742	c.3471C>T	c.(3469-3471)gcC>gcT	p.A1157A	PLXNB3_ENST00000538282.1_Silent_p.A744A|PLXNB3_ENST00000538776.1_Silent_p.A787A|PLXNB3_ENST00000361971.5_Silent_p.A1134A	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1134					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGACTTCGCCAGTGCCAGTG	0.692													28	24	---	---	---	---
GGCX	2677	broad.mit.edu	37	2	85777103	85777106	+	Frame_Shift_Del	DEL	GAAT	GAAT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr2:85777103_85777106delGAAT	ENST00000233838.4	-	15	2308_2311	c.2228_2231delATTC	c.(2227-2232)cattctfs	p.HS743fs	GGCX_ENST00000430215.3_Frame_Shift_Del_p.HS686fs	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	AGGAGGATTAGAATGTGAAGAATC	0.515													25	61	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91226267	91226269	+	In_Frame_Del	DEL	GTT	GTT	-			TCGA-EJ-7115-01A-11D-2114-08	TCGA-EJ-7115-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67324969-d5d7-4ae7-b8f7-26b11d6c0439	6ee4d1f0-da1d-4650-9d06-7f1bc0b11407	g.chr6:91226267_91226269delGTT	ENST00000369329.3	-	17	1933_1935	c.1772_1774delAAC	c.(1771-1776)caacta>cta	p.Q591del	MAP3K7_ENST00000369327.3_3'UTR|MAP3K7_ENST00000369325.3_3'UTR|MAP3K7_ENST00000369332.3_In_Frame_Del_p.Q564del|MAP3K7_ENST00000369320.1_In_Frame_Del_p.Q245del|MAP3K7_ENST00000479630.1_5'UTR	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	591					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATGACCTCTAGTTGTTTTTTGCA	0.374													18	107	---	---	---	---
