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
C8A	731	broad.mit.edu	37	1	57333307	57333307	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:57333307G>A	uc001cyo.2	+	1	235	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	35					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.A35T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCTACACCCGCAGCAGTTAC	0.468												
SRGAP2	23380	broad.mit.edu	37	1	121115895	121115895	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:121115895G>A	uc001eis.2	+	1	129	c.61G>A	c.(61-63)Gcg>Acg	p.A21T		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	184					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAAAGGAGGCGGAGAAGCA	0.547												
PRCC	5546	broad.mit.edu	37	1	156764463	156764463	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:156764463C>T	uc001fqa.3	+	4	1476	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	396					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTTAAGCGGCTGCAGGG	0.478			T	TFE3	papillary renal							
CACNA1E	777	broad.mit.edu	37	1	181689358	181689358	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:181689358C>T	uc009wxt.3	+	13	1963	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	CACNA1E_uc001gow.3_Missense_Mutation_p.R590W|CACNA1E_uc009wxs.3_Missense_Mutation_p.R590W	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	590					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R590W(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTTCCCTACGGAATTTGGT	0.478												
PROX1	5629	broad.mit.edu	37	1	214170642	214170642	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:214170642A>G	uc001hkh.3	+	1	1036	c.764A>G	c.(763-765)gAa>gGa	p.E255G	PROX1_uc001hkg.1_Missense_Mutation_p.E255G	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	255					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCTGCAGGAAAAGTTCTAC	0.532												
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	A	G	rs2257765		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453												
SH2D4B	387694	broad.mit.edu	37	10	82330026	82330026	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:82330026G>T	uc001kck.1	+	1	731	c.301G>T	c.(301-303)Gca>Tca	p.A101S	SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	100	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAGCTGATTGCAGAGAGGGC	0.602												
FAM178A	55719	broad.mit.edu	37	10	102710503	102710503	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:102710503G>A	uc001krs.3	+	16	3865	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	FAM178A_uc001krt.4_Missense_Mutation_p.G1108E	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	1108																	TTTTCTTCTGGACAACGGGTA	0.353												
TRIM8	81603	broad.mit.edu	37	10	104404874	104404874	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:104404874G>A	uc001kvz.2	+	0	623	c.500G>A	c.(499-501)tGc>tAc	p.C167Y		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	167						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCCAGTACTGCTGCTACTAC	0.667												
NRAP	4892	broad.mit.edu	37	10	115388695	115388695	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:115388695G>A	uc001lal.3	-	19	2290	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	NRAP_uc009xyb.3_Missense_Mutation_p.A20V|NRAP_uc001laj.3_Missense_Mutation_p.A709V|NRAP_uc001lak.3_Missense_Mutation_p.A674V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	709						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCTGTCCAGCCTTCTTGGC	0.547												
GFRA1	2674	broad.mit.edu	37	10	117884937	117884937	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:117884937G>A	uc001lcj.3	-	5	1263	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	GFRA1_uc001lci.3_Missense_Mutation_p.R184C|GFRA1_uc009xyr.3_Missense_Mutation_p.R184C	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	189					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACTTGCGGCGGTTGCAGACA	0.607												
MKI67	4288	broad.mit.edu	37	10	129905312	129905312	+	Nonsense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:129905312G>A	uc001lke.3	-	12	4987	c.4792C>T	c.(4792-4794)Cga>Tga	p.R1598*	MKI67_uc001lkf.3_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1598	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTGACCTCGTGTCTGGAAG	0.488												
MRGPRX4	117196	broad.mit.edu	37	11	18195645	18195645	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:18195645G>A	uc001mnv.1	+	0	1262	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	281						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTAGGCAGCGTCAAAATAGG	0.498												
OR5D18	219438	broad.mit.edu	37	11	55587380	55587380	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:55587380C>A	uc010rin.2	+	0	275	c.275C>A	c.(274-276)aCc>aAc	p.T92N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAAGACAGAACCATTTCATTT	0.418												
LRRC55	219527	broad.mit.edu	37	11	56949947	56949947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:56949947C>T	uc001njl.2	+	0	727	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	164						integral to membrane		p.R194R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCTGGCTGCGGAGGGTGCA	0.617												
GLYATL2	219970	broad.mit.edu	37	11	58605817	58605817	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:58605817T>C	uc001nnd.4	-	2	234	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	GLYATL2_uc009ymq.3_Missense_Mutation_p.K35E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	35						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTTTATCTTTTATGTTGAAA	0.423												
C11orf82	220042	broad.mit.edu	37	11	82643154	82643154	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:82643154T>A	uc001ozt.3	+	5	1018	c.774T>A	c.(772-774)ttT>ttA	p.F258L	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	258					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGATGATTTTTCAGCTTCAG	0.413												
DDX10	1662	broad.mit.edu	37	11	108788719	108788719	+	Silent	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:108788719T>C	uc001pkm.3	+	16	2489	c.2424T>C	c.(2422-2424)gaT>gaC	p.D808D	DDX10_uc001pkl.1_Silent_p.D808D	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	808							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTCAGATAGTGAAGATA	0.343			T	NUP98	AML*							
FAM55D	54827	broad.mit.edu	37	11	114453240	114453240	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:114453240G>A	uc001ppc.3	-	2	781	c.600C>T	c.(598-600)gaC>gaT	p.D200D	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	200						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		AGATCACCCTGTCATAGCCTT	0.532												
ETS1	2113	broad.mit.edu	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:128354828G>A	uc010sbs.1	-	4	936	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S207L(2)|p.S251L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGAATGACCGAGGGGTAGTC	0.522												
GDF3	9573	broad.mit.edu	37	12	7848193	7848193	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:7848193G>A	uc001qte.3	-	0	168	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	44					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCACAGGTTGGAACTTCTGGG	0.498												
GLI1	2735	broad.mit.edu	37	12	57861990	57861990	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:57861990G>C	uc001snx.3	+	9	1385	c.1291G>C	c.(1291-1293)Gtg>Ctg	p.V431L	GLI1_uc021qzi.1_Missense_Mutation_p.V390L|GLI1_uc009zpq.3_Missense_Mutation_p.V303L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	431					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGACTGACTGTGCCAGAGGG	0.602												
BEST3	144453	broad.mit.edu	37	12	70091534	70091534	+	Frame_Shift_Del	DEL	A	A	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:70091534delA	uc001svg.3	-	1	272	c.45delT	c.(43-45)tttfs	p.F15fs	BEST3_uc001svd.2_Frame_Shift_Del_p.F15fs|BEST3_uc010stm.2_Intron|BEST3_uc001svi.1_Intron	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	15						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TATGAAATCCAAAAAAAGTTG	0.353												
LGR5	8549	broad.mit.edu	37	12	71974190	71974190	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:71974190G>A	uc001swl.3	+	15	1587	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	LGR5_uc001swm.3_Missense_Mutation_p.M489I|LGR5_uc021rar.1_Missense_Mutation_p.M441I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	513						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGCTGGAATGTTTCAGGCTC	0.388												
C12orf51	283450	broad.mit.edu	37	12	112622897	112622897	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:112622897C>T	uc021reb.1	-	60	9867	c.9471G>A	c.(9469-9471)tcG>tcA	p.S3157S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGAGGAGGACGAGTCACTGA	0.592												
TUBA3C	7278	broad.mit.edu	37	13	19752399	19752399	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:19752399C>T	uc009zzj.3	-	2	467	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	121					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTGCGGATCCGGTCCAGGAC	0.522												
FLT1	2321	broad.mit.edu	37	13	28919630	28919630	+	Silent	SNP	C	C	T	rs142392658		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:28919630C>T	uc001usb.3	-	15	2592	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_uc001usa.3_5'UTR	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	769					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A769S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398												
TEP1	7011	broad.mit.edu	37	14	20871545	20871545	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20871545C>T	uc001vxe.3	-	6	1297	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E311E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	419	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTCTCTGCTCTTCTCTGA	0.408												
OSGEP	55644	broad.mit.edu	37	14	20917163	20917163	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20917163C>T	uc001vxf.3	-	4	942	c.517G>A	c.(517-519)Gac>Aac	p.D173N		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	173					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GGACTTGGGTCGTTAGAAATC	0.448												
PAPOLA	10914	broad.mit.edu	37	14	97022277	97022277	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:97022277C>G	uc001yfq.3	+	17	1975	c.1758C>G	c.(1756-1758)agC>agG	p.S586R	PAPOLA_uc001yfr.3_Missense_Mutation_p.S585R|PAPOLA_uc010twv.2_Missense_Mutation_p.S586R|PAPOLA_uc010avp.3_Missense_Mutation_p.S336R	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	586	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAGTGAAAGCTCAGGGGGTA	0.398												
AHNAK2	113146	broad.mit.edu	37	14	105417016	105417016	+	Missense_Mutation	SNP	A	A	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:105417016A>T	uc010axc.1	-	6	4892	c.4772T>A	c.(4771-4773)cTc>cAc	p.L1591H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1591						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCCTTGAGGTCCACTTT	0.592												
TJP1	7082	broad.mit.edu	37	15	30012191	30012192	+	Frame_Shift_Ins	INS	-	-	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr15:30012191_30012192insT	uc001zcr.3	-	19	3267_3268	c.2792_2793insA	c.(2791-2793)tacfs	p.Y931fs	TJP1_uc010azl.3_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	931					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGGCGAAAGGTAAGGGACTGG	0.386												
NEDD4L	23327	broad.mit.edu	37	18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498												
DAPK3	1613	broad.mit.edu	37	19	3959627	3959627	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:3959627C>T	uc002lzc.1	-	7	931	c.837G>A	c.(835-837)cgG>cgA	p.R279R	DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	279					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCGCCGCCGGATCGCCT	0.687												
UBXN6	80700	broad.mit.edu	37	19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:4454085delT	uc002man.2	-	1	186	c.89delA	c.(88-90)aagfs	p.K30fs	UBXN6_uc002mam.2_5'UTR	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667												
KHSRP	8570	broad.mit.edu	37	19	6416419	6416419	+	Splice_Site	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:6416419C>A	uc002mer.4	-	15	1599	c.1489_splice	c.e15-1	p.G497_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	497					mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AGAGAGGACCCTAGAAGGAAG	0.637												
TSPAN16	26526	broad.mit.edu	37	19	11417292	11417292	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:11417292G>A	uc002mqv.1	+	4	613	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	155						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGTGCTGTGGGGTGAATAA	0.438												
NOTCH3	4854	broad.mit.edu	37	19	15272328	15272328	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:15272328G>A	uc002nan.3	-	32	6187	c.6111C>T	c.(6109-6111)caC>caT	p.H2037H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2037					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCCAGGCCGTGGGGACCGG	0.706												
TSKS	60385	broad.mit.edu	37	19	50251361	50251361	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:50251361C>T	uc002ppm.3	-	3	571	c.560G>A	c.(559-561)gGg>gAg	p.G187E		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	187							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AATGCAGTACCCCTCCAACTC	0.567												
HEATR5B	54497	broad.mit.edu	37	2	37215846	37215846	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:37215846C>T	uc002rpp.1	-	34	5950	c.5854G>A	c.(5854-5856)Gtt>Att	p.V1952I	HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1952							binding	p.A1951A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCTTCTTGAACCGCTAAAAGC	0.348												
RGPD4	285190	broad.mit.edu	37	2	108443529	108443529	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:108443529G>A	uc010ywk.2	+	0	142	c.60G>A	c.(58-60)ccG>ccA	p.P20P	LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	20					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCTCCGCCCCGTCGCCTCGAA	0.711												
IL1RN	3557	broad.mit.edu	37	2	113890404	113890404	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:113890404G>A	uc002tjb.3	+	3	554	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E167K|IL1RN_uc002tiy.3_Missense_Mutation_p.E130K|IL1RN_uc002tja.3_Missense_Mutation_p.E146K	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	164					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TATGCCTGACGAAGGCGTCAT	0.592									Lichen Sclerosis et Atrophicus, Familial Clustering of			
ALPPL2	251	broad.mit.edu	37	2	233274348	233274348	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:233274348C>T	uc002vss.4	+	10	1418	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	455					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAGGCGAGGACGTGGCGGTGT	0.662												
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""							
C20orf152	140894	broad.mit.edu	37	20	34560629	34560629	+	Missense_Mutation	SNP	C	C	T	rs150690141	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:34560629C>T	uc002xer.1	+	1	286	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	C20orf152_uc002xes.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	44								p.R44R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CAGGGGATTCCGGGAATATCA	0.473												
TIAM1	7074	broad.mit.edu	37	21	32638854	32638854	+	Silent	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr21:32638854T>C	uc002yow.1	-	4	907	c.435A>G	c.(433-435)ggA>ggG	p.G145G	TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	145					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						GCCTCCTGCCTCCCTCAGCCA	0.547												
CHEK2	11200	broad.mit.edu	37	22	29091840	29091841	+	Missense_Mutation	DNP	TG	TG	CA	rs142470496	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr22:29091840_29091841TG>CA	uc003adu.1	-	10	1188_1189	c.1116_1117CA>TG	c.(1114-1119)tccaag>tcTGag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCAA	0.416			F			breast		Direct reversal of damage;Other conserved DNA damage response genes				
CSN3	1448	broad.mit.edu	37	4	71114964	71114964	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:71114964C>A	uc003hfe.4	+	3	395	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	113						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCGCCCAAACCTGCATCCATC	0.468												
ANKRD17	26057	broad.mit.edu	37	4	73984505	73984505	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:73984505C>T	uc003hgp.3	-	21	4205	c.4088G>A	c.(4087-4089)gGt>gAt	p.G1363D	ANKRD17_uc003hgo.3_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.3_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.3_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1363					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTGTCCACCATTTGCTGC	0.443												
AFF1	4299	broad.mit.edu	37	4	88047292	88047292	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:88047292T>C	uc011ccz.2	+	13	2890	c.2615T>C	c.(2614-2616)cTc>cCc	p.L872P	AFF1_uc003hqj.4_Missense_Mutation_p.L865P|AFF1_uc003hqk.4_Missense_Mutation_p.L865P|AFF1_uc011cda.2_Missense_Mutation_p.L503P	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	865	Poly-Ser.					nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AAGGAAATGCTCCCCCCGCCA	0.577												
ADH1B	125	broad.mit.edu	37	4	100239237	100239237	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100239237C>A	uc003hus.4	-	2	309	c.225G>T	c.(223-225)gaG>gaT	p.E75D	ADH1B_uc003hut.4_Missense_Mutation_p.E35D|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	75					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCCAACACTCTCCACGATGC	0.537												
ADH1C	126	broad.mit.edu	37	4	100268197	100268197	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100268197T>A	uc021xqi.1	-	2		c.310A>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCAAACACTTTCCACGATGC	0.517												
MMAA	166785	broad.mit.edu	37	4	146576356	146576356	+	Nonsense_Mutation	SNP	A	A	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:146576356A>T	uc003ikh.4	+	6	1112	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	343						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATAAAATGAAAGATTTCCA	0.428												
CCDC110	256309	broad.mit.edu	37	4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:186382220G>A	uc003ixu.4	-	4	407	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_uc003ixv.4_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338												
FBN2	2201	broad.mit.edu	37	5	127671244	127671244	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:127671244G>A	uc003kuu.3	-	28	4189	c.3750C>T	c.(3748-3750)aaC>aaT	p.N1250N	FBN2_uc003kuv.2_Silent_p.N1217N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1250	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCCTCCGTTCATTATCA	0.438												
PCDHAC2	56145	broad.mit.edu	37	5	140181057	140181057	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:140181057G>A	uc003lhf.2	+	0	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R92H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATAGACCGCGAGGAACTG	0.587												
N4BP3	23138	broad.mit.edu	37	5	177547367	177547367	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:177547367C>T	uc003mik.1	+	2	766	c.519C>T	c.(517-519)caC>caT	p.H173H	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	173						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGCTGCACGCCCTCAGCC	0.711												
OR2Y1	134083	broad.mit.edu	37	5	180166656	180166656	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:180166656T>C	uc003mmf.1	-	0	403	c.403A>G	c.(403-405)Atc>Gtc	p.I135V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGCATGATGGCCATGTAG	0.587												
PKHD1	5314	broad.mit.edu	37	6	51918901	51918901	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:51918901G>A	uc003pah.1	-	19	2175	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_uc003pai.3_Silent_p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	633					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAAGCCGATTGTGAAGG	0.478												
NMBR	4829	broad.mit.edu	37	6	142397171	142397171	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:142397171G>A	uc003qiu.3	-	2	928	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	263					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTAGCCAGGCGTTTCCGTGTT	0.388												
PPP1R14C	81706	broad.mit.edu	37	6	150464589	150464589	+	Silent	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:150464589G>A	uc003qnt.3	+	0	402	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	87					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GGCTGGTGCTGGAGGAATGGA	0.637												
PRPS1L1	221823	broad.mit.edu	37	7	18067222	18067222	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:18067222C>T	uc003stz.3	-	0	265	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	62					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473												
MLXIPL	51085	broad.mit.edu	37	7	73011080	73011080	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:73011080G>A	uc003tyn.1	-	10	1759	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.P571S|MLXIPL_uc003tym.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.P477S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P338S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	571					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCCGGGGTCGGGGGAAGGAAT	0.701												
DYNC1I1	1780	broad.mit.edu	37	7	95616403	95616403	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:95616403G>A	uc003uoc.4	+	8	1107	c.830G>A	c.(829-831)cGt>cAt	p.R277H	DYNC1I1_uc003uod.4_Missense_Mutation_p.R260H|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240H|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257H|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	277					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTTCAATCGTCAGTTCTAT	0.443												
CYP3A7	1577	broad.mit.edu	37	7	99332692	99332692	+	Translation_Start_Site	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:99332692C>T	uc003uru.3	-	0	128	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Missense_Mutation_p.V9M	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	9					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGGTTTCCACGGCCAAGTTT	0.498												
MLL5	55904	broad.mit.edu	37	7	104681416	104681416	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:104681416C>T	uc003vcm.3	+	2	551	c.17C>T	c.(16-18)cCa>cTa	p.P6L	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.3_Missense_Mutation_p.P6L|MLL5_uc010ljc.3_Missense_Mutation_p.P6L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	6					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAGTGATCCCATTGGGGGTT	0.428												
PRKAR2B	5577	broad.mit.edu	37	7	106786905	106786905	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:106786905T>G	uc003vdx.3	+	6	916	c.741_splice	c.e6+1	p.L247_splice		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTGGGGTTTGGTGAGTAAA	0.398												
DNAJB5	25822	broad.mit.edu	37	9	34996743	34996743	+	Silent	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:34996743C>T	uc011los.2	+	2	1270	c.909C>T	c.(907-909)ggC>ggT	p.G303G	DNAJB5_uc003zvs.3_Silent_p.G265G|DNAJB5_uc003zvt.3_Silent_p.G231G	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	231					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAAAGAAGGCGACGCCACAC	0.562												
OR13C5	138799	broad.mit.edu	37	9	107360795	107360795	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:107360795G>T	uc011lvp.2	-	0	900	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCACATCCTTGTTTCTAAGAC	0.338												
SAPCD2	89958	broad.mit.edu	37	9	139959160	139959160	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:139959160C>T	uc011men.2	-	5	1252	c.1136G>A	c.(1135-1137)cGc>cAc	p.R379H		NM_178448	NP_848543	Q86UD0	CI140_HUMAN	Homo sapiens chromosome 9 open reading frame 140 (C9orf140), mRNA.	379						cytoplasm|nucleus											GCTCAGGGCGCGGGCCTCAAA	0.647											OREG0019628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
MAP3K15	389840	broad.mit.edu	37	X	19391804	19391804	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:19391804C>T	uc022btq.1	-	20	2783	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	MAP3K15_uc004czj.2_Missense_Mutation_p.R363H|MAP3K15_uc004czk.2_Missense_Mutation_p.R403H|MAP3K15_uc004czi.2_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	928							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACGACACCGCGGGGACCTTC	0.677												
ZNF41	7592	broad.mit.edu	37	X	47307679	47307679	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:47307679C>T	uc004dhs.4	-	3	1683	c.1616G>A	c.(1615-1617)tGt>tAt	p.C539Y	ZNF41_uc004dhu.4_Missense_Mutation_p.C531Y|ZNF41_uc004dht.4_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.4_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.4_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.4_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.4_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.2_Missense_Mutation_p.C411Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATTCTGTACATATATAGGG	0.428												
GSPT2	23708	broad.mit.edu	37	X	51487380	51487380	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:51487380G>A	uc004dpl.3	+	0	900	c.658G>A	c.(658-660)Gga>Aga	p.G220R		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	220					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTCAACCATCGGAGGACAGAT	0.398												
ODZ1	10178	broad.mit.edu	37	X	123518365	123518365	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:123518365C>T	uc010nqy.3	-	29	6480	c.6416G>A	c.(6415-6417)cGc>cAc	p.R2139H	ODZ1_uc011muj.2_Missense_Mutation_p.R2138H|ODZ1_uc004euj.3_Missense_Mutation_p.R2132H	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2132					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TATTACCATGCGGCCCACATT	0.393												
ACTRT1	139741	broad.mit.edu	37	X	127185914	127185914	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:127185914T>G	uc004eum.3	-	0	469	c.272A>C	c.(271-273)cAt>cCt	p.H91P		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	91						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCAAAGAGATGTTTCCAGAG	0.493												
ARHGEF6	9459	broad.mit.edu	37	X	135754253	135754253	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:135754253T>A	uc004fab.3	-	19	2523	c.2061A>T	c.(2059-2061)caA>caT	p.Q687H	ARHGEF6_uc011mwd.2_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.2_Missense_Mutation_p.Q533H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	687					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGAGTAGGACTTGTGGAATGG	0.458												
PNCK	139728	broad.mit.edu	37	X	152936012	152936012	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:152936012C>T	uc011myu.2	-	10	1367	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	PNCK_uc011myt.2_Missense_Mutation_p.R328Q|PNCK_uc004fhz.4_Missense_Mutation_p.R209Q	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	311						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCTTCCGGATGTGGCG	0.687