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
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	ENST00000330333.6	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259N|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			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	0.047766	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	ENST00000600428.1	+	7	922	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TRIP10_ENST00000313244.9_Silent_p.D200D|TRIP10_ENST00000313285.8_Silent_p.D200D|TRIP10_ENST00000596758.1_Silent_p.D200D			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	200	Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|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	0.055883	0	0
CLCN4	0	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	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M|CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|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	0.086207	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	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	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	0.055883	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	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	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	0.069234	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	ENST00000351989.3	+	9	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	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	0.043863	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	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000475957.1_Intron|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	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	0.099896	0	0
PTPN3	0	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	ENST00000412145.1	-	13	3797	c.1242_splice	c.e13-1	p.A415_splice	PTPN3_ENST00000446349.1_Splice_Site_p.A370_splice|PTPN3_ENST00000394827.3_Splice_Site_p.A14_splice|PTPN3_ENST00000262539.3_Splice_Site_p.A392_splice|PTPN3_ENST00000374541.2_Splice_Site_p.A546_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	546					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	0.076483	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		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.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	43					0	0	0.004672	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	ENST00000377939.4	+	9	928	c.800_splice	c.e9-1	p.S267_splice	RNF207_ENST00000377948.2_Splice_Site_p.S40_splice	NM_207396.2	NP_997279.2	Q6ZRF8	RN207_HUMAN	ring finger protein 207	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	0.038395	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	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000414533.1_Missense_Mutation_p.I154V|QARS_ENST00000420147.2_Missense_Mutation_p.I183V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	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	0.043863	0	0
NOP16	51491	broad.mit.edu	37	5	175815433	175815433	+	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.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642000													20	88					0	0	0.062417	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	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	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	0.038395	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	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	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	0.034045	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	ENST00000312143.7	-	3	533	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	57					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|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	0.038147	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	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L			O14709	ZN197_HUMAN	zinc finger protein 197	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	0.038395	0	0
AC112229.4	0	broad.mit.edu	37	2	111144370	111144370	+	RNA	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.chr2:111144370T>C	ENST00000606848.1	-	0	1370																											GGCAGCACCATAGTGGCGGCC	0.622000													2	6					0	0	0.014758	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		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.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	44					0	0	0.004672	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	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(1)		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	0.029380	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	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	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	0.021553	0	0
SPATA31A7	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	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433000													68	272					0	0	0.048971	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	ENST00000369278.4	+	11	1337	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	424					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CGAAGAAGGAAAGCAACAGGT	0.328000													3	13					0	0	0.009096	0	0
CLCN4	0	broad.mit.edu	37	X	10176202	10176202	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chrX:10176202G>A	ENST00000380833.4	+	9	1352	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	CLCN4_ENST00000380829.1_Missense_Mutation_p.V321M|CLCN4_ENST00000421085.2_Missense_Mutation_p.V227M	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	321						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|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	0.086207	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr11:59620777C>T	ENST00000257264.3	-	8	1243	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	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	0.055883	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr14:93412807G>C	ENST00000267615.6	-	10	943	c.770C>G	c.(769-771)cCg>cGg	p.P257R	ITPK1_ENST00000354313.3_Missense_Mutation_p.P257R|ITPK1_ENST00000556603.2_Missense_Mutation_p.P257R|ITPK1_ENST00000555495.1_Missense_Mutation_p.P138R|ITPK1_ENST00000556954.1_5'UTR			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	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	0.069234	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr22:20082238C>T	ENST00000351989.3	+	9	2137	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	DGCR8_ENST00000383024.2_Nonsense_Mutation_p.R537*|DGCR8_ENST00000407755.1_Nonsense_Mutation_p.R537*	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	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	0.043863	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr9:20448194T>C	ENST00000380338.4	-	4	633	c.347A>G	c.(346-348)cAc>cGc	p.H116R	MLLT3_ENST00000429426.2_Missense_Mutation_p.H113R|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_Intron	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	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	0.099896	0	0
PTPN3	0	broad.mit.edu	37	9	112168897	112168897	+	Splice_Site	SNP	G	G	A			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr9:112168897G>A	ENST00000412145.1	-	13	3797	c.1242_splice	c.e13-1	p.A415_splice	PTPN3_ENST00000374541.2_Splice_Site_p.A546_splice|PTPN3_ENST00000446349.1_Splice_Site_p.A370_splice|PTPN3_ENST00000262539.3_Splice_Site_p.A392_splice|PTPN3_ENST00000394827.3_Splice_Site_p.A14_splice	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	546					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	0.076483	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													3	43					0	0	0.004672	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr3:49140801T>C	ENST00000306125.6	-	5	830	c.493A>G	c.(493-495)Atc>Gtc	p.I165V	QARS_ENST00000420147.2_Missense_Mutation_p.I183V|QARS_ENST00000414533.1_Missense_Mutation_p.I154V			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	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	0.043863	0	0
NOP16	51491	broad.mit.edu	37	5	175815433	175815433	+	Splice_Site	SNP	C	C	G			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr5:175815433C>G	ENST00000389158.5	-	1	543		c.e1+1		NOP16_ENST00000510123.1_Splice_Site|NOP16_ENST00000509257.1_Splice_Site|NOP16_ENST00000507413.1_Splice_Site			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein							nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCCCTCACCATTCGATCC	0.642000													20	88					0	0	0.062417	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr14:93649656A>C	ENST00000556883.1	-	2	1416	c.932T>G	c.(931-933)cTt>cGt	p.L311R	MOAP1_ENST00000298894.4_Missense_Mutation_p.L311R			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	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	0.038395	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:75860932C>T	ENST00000322507.8	-	21	4381	c.4072G>A	c.(4072-4074)Gtg>Atg	p.V1358M	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1358M|COL12A1_ENST00000345356.6_Missense_Mutation_p.V194M|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1358M	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	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	0.034045	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr12:108686570C>T	ENST00000312143.7	-	3	533	c.170G>A	c.(169-171)gGc>gAc	p.G57D	CMKLR1_ENST00000550402.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000552995.1_Missense_Mutation_p.G55D|CMKLR1_ENST00000412676.1_Missense_Mutation_p.G57D|CMKLR1_ENST00000397688.2_Missense_Mutation_p.G55D	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	57					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|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	0.038147	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr3:44684197C>T	ENST00000396058.1	+	5	1742	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Silent_p.L525L|RP11-944L7.4_ENST00000457331.1_RNA			O14709	ZN197_HUMAN	zinc finger protein 197	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	0.038395	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr14:20692287G>A	ENST00000315519.2	+	1	497	c.419G>A	c.(418-420)cGg>cAg	p.R140Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R140Q(1)		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	0.029380	0	0
CROCCP2	0	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	G	A	rs28392876	by1000genomes	TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr1:16946438G>A	ENST00000412962.1	-	0	1081																											GCCTTCCGCCGGGCCAGCAGC	0.672000													4	26					0	0	0.009096	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr21:42615330T>A	ENST00000330333.6	+	5	1238	c.775T>A	c.(775-777)Tat>Aat	p.Y259N	BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000347667.4_Missense_Mutation_p.Y259N|BACE2_ENST00000328735.6_Missense_Mutation_p.Y259N	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	259					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			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	0.047766	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr8:55542393C>T	ENST00000220676.1	+	4	6099	c.5951C>T	c.(5950-5952)gCc>gTc	p.A1984V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	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	0.021553	0	0
SPATA31A7	26165	broad.mit.edu	37	9	65506469	65506469	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr9:65506469C>T	ENST00000355045.2	-	4	1119	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q		NM_015667.2	NP_056482.2			SPATA31 subfamily A, member 7									p.R364Q(1)									AGCCAAATTCCGCAAATAATT	0.433000													68	272					0	0	0.048971	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-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:96988523A>G	ENST00000369278.4	+	11	1337	c.1271A>G	c.(1270-1272)aAa>aGa	p.K424R		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	424					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										CGAAGAAGGAAAGCAACAGGT	0.328000													3	13					0	0	0.009096	0	0
POU4F2	5458	broad.mit.edu	37	4	147560457	147560458	+	In_Frame_Ins	INS	-	-	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	ENST00000281321.3	+	1	413_414	c.165_166insGGC	c.(163-168)gggcgg>ggGGCgcgg	p.55_56GR>GAR	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	55	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|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	---	---	---	---					
HDGFL1	154150	broad.mit.edu	37	6	22570346	22570347	+	In_Frame_Ins	INS	-	-	GGC			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr6:22570346_22570347insGGC	ENST00000510882.2	+	1	552_553	c.542_543insGGC	c.(541-543)agc>aGGCgc	p.181_181S>RR	HDGFL1_ENST00000230012.3_In_Frame_Ins_p.181_181S>RR			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	181	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					gaagcggagagggcggcggcgg	0.767													4	2	---	---	---	---					
XKR5	389610	broad.mit.edu	37	8	6673270	6673270	+	RNA	DEL	A	A	-			TCGA-EJ-7792-01A-11D-2114-08	TCGA-EJ-7792-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2903d109-d1bb-4545-a90a-81a3d8d62406	1ea92c16-9376-49ef-9a3a-8a7f75a9eb1c	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---