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
IGLL3P	91353	broad.mit.edu	37	22	25714260	25714260	+	RNA	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr22:25714260C>T	uc021wnj.1	+	0		c.37C>T								Homo sapiens immunoglobulin lambda-like polypeptide 3, pseudogene (IGLL3P), non-coding RNA.											cervix(1)|lung(4)|skin(1)|stomach(3)	9						GGACTGGCCCCGGGTGCTGGC	0.612000													6	101					0	0	1	0	0
TRIP10	9322	broad.mit.edu	37	19	6743805	6743805	+	Silent	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr19:6743805C>T	uc002mfs.3	+	6	666	c.600C>T	c.(598-600)gaC>gaT	p.D200D	TRIP10_uc010dux.2_Silent_p.D200D|TRIP10_uc002mfr.3_Silent_p.D200D|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	200	Induction of membrane tubulation.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCAACCGAGACCAAGCCCACT	0.507000													19	72					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10176202	10176202	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:10176202G>A	uc004csy.4	+	8	1391	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_uc011mid.2_Missense_Mutation_p.V227M	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	321						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCTCTTTTATGTGGAATACCA	0.542000													37	60					0	0	1	0	0
TCN1	6947	broad.mit.edu	37	11	59620777	59620777	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr11:59620777C>T	uc001noj.2	-	7	1237	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	380					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCCATGAGCGCTCCTCCAT	0.458000													22	100					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93412807	93412807	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93412807G>C	uc001ybg.3	-	9	1059	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_uc001ybe.2_Missense_Mutation_p.P257R|ITPK1_uc001ybf.3_Missense_Mutation_p.P138R|ITPK1_uc001ybh.3_Missense_Mutation_p.P257R	NM_014216	NP_055031	Q13572	ITPK1_HUMAN	Homo sapiens inositol-tetrakisphosphate 1-kinase (ITPK1), transcript variant 1, mRNA.	257	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTCGTCGCTCGGCCGCTCGAA	0.627000													10	46					0	0	1	0	0
DGCR8	54487	broad.mit.edu	37	22	20082238	20082238	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr22:20082238C>T	uc002zri.3	+	8	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_uc010grz.3_Nonsense_Mutation_p.R537*|DGCR8_uc002zrj.3_Nonsense_Mutation_p.R213*	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	570	DRBM 1.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTCATAGCCCGAGCTACACT	0.542000													17	89					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20448194	20448194	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:20448194T>C	uc003zoe.2	-	3	606	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_uc011lne.1_Missense_Mutation_p.H84R|MLLT3_uc011lnf.1_Missense_Mutation_p.H113R|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ACAGCGGAGGTGATTCACTGG	0.438000			T	MLL	ALL								25	109					0	0	1	0	0
RNF207	388591	broad.mit.edu	37	1	6270283	6270283	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr1:6270283C>G	uc001amg.3	+	9	975	c.801_splice	c.e9-1	p.S267_splice	RNF207_uc001amh.3_Splice_Site_p.P156_splice|RNF207_uc010nzp.1_Splice_Site	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	267						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		CCTCCCCCAGCCAATACGAAG	0.667000													16	44					0	0	1	0	0
QARS	5859	broad.mit.edu	37	3	49140801	49140801	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:49140801T>C	uc003cvx.3	-	4	498	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_uc011bcd.2_Missense_Mutation_p.I20V|QARS_uc003cvy.3_Missense_Mutation_p.I20V|QARS_uc011bce.2_Missense_Mutation_p.I154V|QARS_uc011bcf.1_Missense_Mutation_p.I165V	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	165					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TCATTCTTGATCATTTTGCCA	0.507000													14	84					0	0	1	0	0
MOAP1	64112	broad.mit.edu	37	14	93649656	93649656	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:93649656A>C	uc021saw.1	-	0	932	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_uc001ybj.3_Missense_Mutation_p.L311R|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	311					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tggcagattaagctctctgcg	0.517000													16	97					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75860932	75860932	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:75860932C>T	uc021zbv.1	-	19	4107	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_uc021zbw.1_Missense_Mutation_p.V194M|COL12A1_uc003phs.3_Missense_Mutation_p.V1358M|COL12A1_uc003pht.3_Missense_Mutation_p.V194M	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1358	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAATCTGCCACATTGTATGCA	0.363000													25	82					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686570	108686570	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr12:108686570C>T	uc009zuw.3	-	2	361	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_uc001tmw.3_Missense_Mutation_p.G57D|CMKLR1_uc001tmv.3_Missense_Mutation_p.G55D|CMKLR1_uc009zuv.3_Missense_Mutation_p.G57D|CMKLR1_uc021rdj.1_Missense_Mutation_p.G55D	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	57					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						CAGACCATTGCCCAGAATCCC	0.517000													7	56					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142480063	142480063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr7:142480063C>A	uc011ksq.2	+	1	278	c.195C>A	c.(193-195)taC>taA	p.Y65*	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GTCACTGCTACAAGCCGTAAG	0.567000													9	47					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44684197	44684197	+	Silent	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr3:44684197C>T	uc003cnm.3	+	5	1781	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	525					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		AGAAGAGCCTCATTCTGCACC	0.423000													17	101					0	0	1	0	0
HSPA12A	259217	broad.mit.edu	37	10	118466766	118466766	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr10:118466766G>T	uc001lct.3	-	1	176	c.71C>A	c.(70-72)cCa>cAa	p.P24Q	HSPA12A_uc001lcu.3_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	24							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		ACTCCGGGCTGGAGATGAATA	0.522000													3	20					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70348454	70348454	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chrX:70348454G>T	uc004dyy.3	+	23	3560	c.3361G>T	c.(3361-3363)Gac>Tac	p.D1121Y	MED12_uc011mpq.1_Missense_Mutation_p.D1121Y|MED12_uc004dyz.3_Missense_Mutation_p.D1121Y|MED12_uc004dza.3_Missense_Mutation_p.D968Y|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1121					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCAGGTCAGTGACCTATCTTT	0.532000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	24					0	0	1	0	0
PTPN3	5774	broad.mit.edu	37	9	112168897	112168897	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:112168897G>A	uc004bed.2	-	18	1748	c.1636_splice	c.e18-1	p.A546_splice	PTPN3_uc004beb.2_Splice_Site_p.A415_splice|PTPN3_uc004bec.2_Splice_Site_p.A370_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.A501_splice|PTPN3_uc011lwh.1_Splice_Site_p.A392_splice|PTPN3_uc011lwd.1_Splice_Site_p.A14_splice|PTPN3_uc011lwe.1_Splice_Site_p.A259_splice|PTPN3_uc011lwf.1_Splice_Site_p.A214_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	546	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGGTGTCCGCCTGGGTGGT	0.527000													23	92					0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692287	20692287	+	Missense_Mutation	SNP	G	G	A	rs146448571		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr14:20692287G>A	uc010tlc.2	+	0	419	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCTTATGATCGGTACCTGGCC	0.428000													6	83					0	0	1	0	0
BACE2	25825	broad.mit.edu	37	21	42615330	42615330	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr21:42615330T>A	uc002yyw.3	+	4	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_uc002yyx.3_Missense_Mutation_p.Y259N|BACE2_uc002yyy.3_Missense_Mutation_p.Y259N|BACE2_uc010goo.3_5'Flank	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 2 (BACE2), transcript variant a, mRNA.	259					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	Golgi apparatus|cell surface|endoplasmic reticulum|endosome|integral to membrane	aspartic-type endopeptidase activity	p.L258V(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				ACCAAGTTTGTATAAAGGAGA	0.388000													8	39					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542393	55542393	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr8:55542393C>T	uc003xsd.1	+	3	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1984					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATTGATAATGCCATTGGTGAT	0.308000													6	19					0	0	1	0	0
FAM75A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr9:65506469C>T	uc004adx.4	-	3	1120	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q		NM_015667	NP_056482	Q8IWB4	F75A7_HUMAN	Homo sapiens family with sequence similarity 75, member A7 (FAM75A7), mRNA.	364						integral to membrane		p.R364Q(2)		breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						AGCCAAATTCCGCAAATAATT	0.433000													68	272					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96988523	96988523	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr6:96988523A>G	uc003por.3	+	10	1319	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R	UFL1_uc010kck.3_Non-coding_Transcript	NM_015323	NP_056138	O94874	UFL1_HUMAN	Homo sapiens UFM1-specific ligase 1 (UFL1), mRNA.	424					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	UFM1 conjugating enzyme activity|protein binding										CGAAGAAGGAAAGCAACAGGT	0.328000													3	13					0	0	1	0	0
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	GGC	GGC	rs67907220		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	c6995bd6-51d1-4786-9c0a-e4aebe984d5f	g.chr4:147560457_147560458insGGC	uc003ikv.3	+	0	413_414	c.165_166insGGC	c.(163-168)insGGC	p.68_69insG		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	68	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	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			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					ACGCTggtggtggcggcggcgg	0.762													4	7	---	---	---	---					
