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
UHRF2	115426	broad.mit.edu	37	9	6460622	6460622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:6460622C>T	ENST00000276893.5	+	4	862	c.694C>T	c.(694-696)Cga>Tga	p.R232*		NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	232	Interaction with PCNP.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		TCTTAGACCACGAGCTAGAAC	0.373000													41	29					0	0	1	0	0
IMPA1	3612	broad.mit.edu	37	8	82572902	82572902	+	Splice_Site	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:82572902C>G	ENST00000256108.5	-	8	1032	c.566_splice	c.e8-1	p.G189_splice	IMPA1_ENST00000449740.2_Splice_Site_p.G248_splice|IMPA1_ENST00000523710.1_5'UTR|IMPA1_ENST00000311489.4_Splice_Site_p.G153_splice	NM_005536.3	NP_005527.1	P29218	IMPA1_HUMAN	inositol(myo)-1(or 4)-monophosphatase 1	189					inositol phosphate dephosphorylation|phosphatidylinositol biosynthetic process|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|cervix(1)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|stomach(1)	18					Lithium(DB01356)	CACTCCGGATCCTAACAAATA	0.378000													9	32					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54797970	54797970	+	Silent	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:54797970T>A	ENST00000293379.4	-	15	1785	c.1524A>T	c.(1522-1524)ccA>ccT	p.P508P	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	508					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCCGCTCCTCTGGGTTGAACA	0.612000											OREG0021554	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	43					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581457	82581457	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:82581457C>G	ENST00000423517.2	-	5	9149	c.8812G>C	c.(8812-8814)Gct>Cct	p.A2938P	PCLO_ENST00000333891.8_Missense_Mutation_p.A2938P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2869					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGCACACAGCTCTTCTCCCT	0.433000													7	138					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140176805	140176805	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:140176805G>T	ENST00000526136.1	+	1	2256	c.2256G>T	c.(2254-2256)caG>caT	p.Q752H	PCDHA2_ENST00000520672.2_Missense_Mutation_p.Q752H|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Q752H|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTACTCGCAGCAGAGGCGGC	0.672000													29	16					7.26314e-15	7.84888e-15	1	1	0
SLC4A3	6508	broad.mit.edu	37	2	220501041	220501041	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:220501041C>A	ENST00000358055.3	+	15	2721	c.2209C>A	c.(2209-2211)Ctg>Atg	p.L737M	SLC4A3_ENST00000373760.2_Missense_Mutation_p.L737M|SLC4A3_ENST00000373762.3_Missense_Mutation_p.L764M|SLC4A3_ENST00000317151.3_Missense_Mutation_p.L737M|SLC4A3_ENST00000273063.6_Missense_Mutation_p.L764M			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	737	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACCGAGGGGCTGATGGGCGT	0.617000													64	24					3.30712e-30	3.77688e-30	1	1	0
ADAMTS18	170692	broad.mit.edu	37	16	77327019	77327019	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:77327019C>A	ENST00000282849.5	-	20	3561	c.3143G>T	c.(3142-3144)tGc>tTc	p.C1048F		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1048	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GTTCTTGGGGCATCGTCCAAG	0.587000													29	52					7.41945e-09	7.76724e-09	1	1	0
ITGB1	3688	broad.mit.edu	37	10	33217097	33217097	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:33217097C>T	ENST00000396033.2	-	5	607	c.472G>A	c.(472-474)Gat>Aat	p.D158N	ITGB1_ENST00000302278.3_Missense_Mutation_p.D158N|ITGB1_ENST00000423113.1_Missense_Mutation_p.D158N|ITGB1_ENST00000484088.1_Intron|ITGB1_ENST00000374956.4_Missense_Mutation_p.D158N	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	158	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TTCTCCAAATCGTCTTTCATT	0.393000													42	83					0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130566689	130566689	+	Silent	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:130566689G>T	ENST00000373245.1	+	2	314	c.264G>T	c.(262-264)ctG>ctT	p.L88L	FPGS_ENST00000373247.2_Silent_p.L88L|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000393706.2_Silent_p.L88L|FPGS_ENST00000373225.3_Silent_p.L38L			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	88					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	GGAGTGGGCTGCAGGTAAGGT	0.607000													28	35					3.69857e-22	4.15314e-22	1	1	0
TRBV11-2	28581	broad.mit.edu	37	7	142198012	142198012	+	RNA	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:142198012A>T	ENST00000471935.1	-	0	57																											TGCCCATGGCAGGGTCAGGGA	0.562000													22	41					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139741483	139741483	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:139741483C>A	ENST00000263549.3	-	6	2016	c.1143G>T	c.(1141-1143)tgG>tgT	p.W381C	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	381	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ACTCATCACTCCAGTACCAAA	0.512000													63	110					1.3268e-25	1.49824e-25	1	1	0
TMEM8A	58986	broad.mit.edu	37	16	424221	424221	+	Splice_Site	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:424221C>T	ENST00000431232.2	-	10	1915	c.1755_splice	c.e10+1	p.T585_splice	TMEM8A_ENST00000250930.3_Splice_Site_p.T392_splice	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	585					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCAGCCTACCGTGGAGAAGA	0.662000											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	19					0	0	1	0	0
KCNMB1	3779	broad.mit.edu	37	5	169805970	169805970	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:169805970T>A	ENST00000274629.4	-	4	756	c.314A>T	c.(313-315)tAc>tTc	p.Y105F	KCNIP1_ENST00000377360.4_Intron|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	105					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity	p.Y105F(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GCCTGGGATGTAGGAGCACTG	0.522000													14	10					0	0	1	0	0
MTA3	57504	broad.mit.edu	37	2	42836652	42836652	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:42836652A>G	ENST00000405592.1	+	5	747	c.77A>G	c.(76-78)cAg>cGg	p.Q26R	MTA3_ENST00000405094.1_Missense_Mutation_p.Q82R|MTA3_ENST00000407270.3_Missense_Mutation_p.Q82R|MTA3_ENST00000406652.1_Missense_Mutation_p.Q26R|MTA3_ENST00000406911.1_Missense_Mutation_p.Q82R			Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	82	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACCGATAAGCAGAAACATCAG	0.358000													8	73					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310617	124310617	+	Missense_Mutation	SNP	C	C	T	rs144609364	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:124310617C>T	ENST00000328064.2	-	1	437	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCCACATAGCGGTCATACGC	0.488000													10	40					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71838717	71838717	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:71838717G>T	ENST00000258104.3	+	38	4405	c.4128G>T	c.(4126-4128)aaG>aaT	p.K1376N	DYSF_ENST00000429174.2_Missense_Mutation_p.K1376N|DYSF_ENST00000409762.1_Missense_Mutation_p.K1393N|DYSF_ENST00000409744.1_Missense_Mutation_p.K1363N|DYSF_ENST00000410041.1_Missense_Mutation_p.K1394N|DYSF_ENST00000409651.1_Missense_Mutation_p.K1408N|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.K1407N|DYSF_ENST00000409366.1_Missense_Mutation_p.K1377N|DYSF_ENST00000394120.2_Missense_Mutation_p.K1377N|DYSF_ENST00000409582.3_Missense_Mutation_p.K1393N|DYSF_ENST00000410020.3_Missense_Mutation_p.K1394N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1376						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTCCGGAAGAACCCCAACT	0.572000													5	34					0.217242	0.218328	1	1	0
SNRNP200	23020	broad.mit.edu	37	2	96970578	96970578	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:96970578C>T	ENST00000323853.5	-	2	151	c.74G>A	c.(73-75)cGt>cAt	p.R25H	SNRNP200_ENST00000349783.5_Missense_Mutation_p.R25H	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	25						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AATGAGAGAACGGTCAGCTTG	0.522000													14	32					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37904369	37904369	+	Silent	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:37904369A>T	ENST00000316950.6	-	6	1748	c.1191T>A	c.(1189-1191)ctT>ctA	p.L397L	ZNF569_ENST00000392150.2_Silent_p.L238L|ZNF569_ENST00000392149.2_Silent_p.L397L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATGTACAGTAAGGGCTGAGC	0.383000													16	64					0	0	1	0	0
ADAP2	55803	broad.mit.edu	37	17	29253865	29253865	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:29253865C>T	ENST00000330889.3	+	3	581	c.246C>T	c.(244-246)aaC>aaT	p.N82N	ADAP2_ENST00000580525.1_Silent_p.N88N	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	82	Arf-GAP.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACAATGGAAACCTCCGTGTGA	0.478000													14	38					0	0	1	0	0
LMTK2	22853	broad.mit.edu	37	7	97821023	97821023	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:97821023C>T	ENST00000297293.5	+	11	1539	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	416					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GCAGAGCCAGCGGGACTCAGA	0.537000													4	48					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21143043	21143043	+	RNA	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:21143043G>A	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							TGAAGTTGAGGAAAAAAGAGC	0.443000													6	16					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202407199	202407199	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:202407199T>C	ENST00000480184.1	+	10	1637	c.1505T>C	c.(1504-1506)tTc>tCc	p.F502S	PPP1R12B_ENST00000336894.4_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000406302.3_Intron	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	502					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GTTTTTTTTTTCCATGAAAAT	0.388000													14	35					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50053854	50053854	+	Silent	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:50053854T>G	ENST00000376042.1	+	6	2983	c.2685T>G	c.(2683-2685)tcT>tcG	p.S895S	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.S895S			Q8WWL7	CCNB3_HUMAN	cyclin B3	895					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TCAAGGAGTCTTTGGACTTGC	0.502000													11	11					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31896555	31896555	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:31896555G>A	ENST00000373710.1	+	3	355	c.82G>A	c.(82-84)Ggc>Agc	p.G28S	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.G23S|SERINC2_ENST00000373709.3_Missense_Mutation_p.G19S|SERINC2_ENST00000536859.1_Missense_Mutation_p.G23S	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	19						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGCCTCTGCGGCTCTGCCCC	0.677000													27	18					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159904572	159904572	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:159904572G>A	ENST00000368094.1	-	7	911	c.714C>T	c.(712-714)gtC>gtT	p.V238V	IGSF9_ENST00000361509.3_Silent_p.V238V	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	238	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGAGGCATTGACTGTGCTGT	0.562000													10	55					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64946652	64946652	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:64946652G>A	ENST00000399438.3	+	6	789	c.444G>A	c.(442-444)gtG>gtA	p.V148V	TRAPPC13_ENST00000545191.1_Silent_p.V148V|TRAPPC13_ENST00000231526.4_Silent_p.V148V|TRAPPC13_ENST00000505553.1_Silent_p.V148V|TRAPPC13_ENST00000438419.2_Silent_p.V148V	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		TATGTGCTGTGAGTTATACAA	0.289000													17	8					0	0	1	0	0
LMOD2	442721	broad.mit.edu	37	7	123302785	123302785	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:123302785G>C	ENST00000458573.2	+	2	1302	c.1145G>C	c.(1144-1146)aGa>aCa	p.R382T	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	382						cytoskeleton	actin binding|tropomyosin binding										GTCTGGCAAAGAGGAACACCT	0.488000													39	74					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139206	178139206	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:178139206G>C	ENST00000335815.2	-	5	1870	c.1673C>G	c.(1672-1674)aCt>aGt	p.T558S		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	558					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|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)	all cancers(165;0.185)		TTGTCTAAAAGTTTTTCCACA	0.373000													49	29					0	0	1	0	0
KLF15	28999	broad.mit.edu	37	3	126062647	126062647	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:126062647G>A	ENST00000296233.3	-	3	1404	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	392						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGGTCGCTCCGCGCGAACTTC	0.652000													8	17					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78355470	78355470	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:78355470G>A	ENST00000582970.1	+	57	14064	c.13921G>A	c.(13921-13923)Gtg>Atg	p.V4641M	RNF213_ENST00000508628.2_Missense_Mutation_p.V4690M|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.V2714M|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACCATCGGCGTGGTCCACCT	0.597000													6	34					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39023129	39023129	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:39023129G>A	ENST00000355481.4	+	76	11257		c.e76-1		RYR1_ENST00000360985.3_Splice_Site|RYR1_ENST00000359596.3_Splice_Site	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)						muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TACTTCCCCAGCAAACTGGAT	0.567000													3	30					0	0	1	0	0
KRT81	3887	broad.mit.edu	37	12	52685196	52685196	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:52685196G>A	ENST00000327741.5	-	1	122	c.54C>T	c.(52-54)tgC>tgT	p.C18C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	18	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGCGGCCCGCAGGCCGAGA	0.692000													14	17					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74420023	74420023	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:74420023C>G	ENST00000377669.2	-	3	637	c.611G>C	c.(610-612)gGa>gCa	p.G204A	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Missense_Mutation_p.G204A	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	204					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GTTCACATTTCCAGGTGACCT	0.468000													41	59					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7122262	7122262	+	Translation_Start_Site	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:7122262G>A	ENST00000399510.2	-	0	759				ACADVL_ENST00000543245.2_Intron	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)						axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AAAGTAGGCCGTCTCTGAGCC	0.567000													3	11					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97485361	97485361	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:97485361G>A	ENST00000376705.2	+	2	1349	c.1325G>A	c.(1324-1326)cGa>cAa	p.R442Q		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	442						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					AGGCTGCAGCGAGAGCACAGG	0.612000													17	25					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47266017	47266017	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:47266017G>A	ENST00000396220.1	-	25	3148	c.3126C>T	c.(3124-3126)ggC>ggT	p.G1042G	PREX1_ENST00000371941.3_Silent_p.G1042G			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1042					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGAGACCCTGGCCTTGGGGAT	0.627000													19	20					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575027	142575027	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:142575027T>A	ENST00000359396.3	-	4	600	c.355A>T	c.(355-357)Act>Tct	p.T119S	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	119					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGCAGTGCAGTCTGACCTGGC	0.617000													8	70					0	0	1	0	0
LOC442028	442028	broad.mit.edu	37	2	95552820	95552820	+	RNA	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:95552820C>G	ENST00000568768.1	-	0	476																											GTCTGGTATTCAAATTCAAAA	0.358000													9	31					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881780	30881780	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:30881780T>C	ENST00000251071.5	-	8	2334	c.1584A>G	c.(1582-1584)tcA>tcG	p.S528S	CAPRIN2_ENST00000298892.5_Silent_p.S528S|CAPRIN2_ENST00000308433.5_Silent_p.S195S|CAPRIN2_ENST00000417045.1_Silent_p.S528S|CAPRIN2_ENST00000395805.2_Silent_p.S528S|CAPRIN2_ENST00000538387.1_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	528					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GAGTGGTCCATGACTTGGTGG	0.453000													67	190					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151774826	151774826	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:151774826G>A	ENST00000368820.3	-	2	1292	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	119						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTCTGAGCCGATTGCCCTGC	0.577000													10	68					0	0	1	0	0
WDR34	89891	broad.mit.edu	37	9	131396039	131396039	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:131396039G>T	ENST00000372715.2	-	9	1655	c.1595C>A	c.(1594-1596)gCa>gAa	p.A532E		NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	532						cytoplasm				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						CGCCACCTCTGCTGCCAGGCA	0.627000													76	125					3.27973e-32	3.767e-32	1	1	0
SUCO	51430	broad.mit.edu	37	1	172555026	172555026	+	Silent	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:172555026T>G	ENST00000367723.3	+	16	2176	c.2052T>G	c.(2050-2052)acT>acG	p.T684T	SUCO_ENST00000263688.3_Silent_p.T532T	NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		AGAATGCCACTGCCACAGCTG	0.323000													66	113					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7050890	7050890	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:7050890G>A	ENST00000389658.3	-	4	484	c.391C>T	c.(391-393)Cga>Tga	p.R131*		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	131	Laminin N-terminal.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCAGGTCGAGGGGCATTG	0.468000													30	52					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232561495	232561495	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:232561495C>G	ENST00000366630.1	-	17	4828	c.4470G>C	c.(4468-4470)gaG>gaC	p.E1490D	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E1490D|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.E564D			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1490					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.E1490D(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGCAGATGCTCTCGTCAGACA	0.552000													16	18					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254041	158254041	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:158254041G>T	ENST00000296526.7	+	7	1278	c.953G>T	c.(952-954)aGa>aTa	p.R318I	GRIA2_ENST00000507898.1_Missense_Mutation_p.R271I|GRIA2_ENST00000393815.2_Missense_Mutation_p.R271I|GRIA2_ENST00000449365.1_Missense_Mutation_p.R271I|GRIA2_ENST00000264426.9_Missense_Mutation_p.R318I	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	318					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AGGAAGCAAAGAATTGAAATC	0.483000													27	52					2.79863e-10	2.97632e-10	1	1	0
MTG2	26164	broad.mit.edu	37	20	60768650	60768650	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:60768650G>A	ENST00000370823.3	+	2	192	c.174G>A	c.(172-174)ccG>ccA	p.P58P	MTG2_ENST00000536470.1_Intron|MTG2_ENST00000436421.2_Silent_p.P58P	NM_015666.3	NP_056481.1			mitochondrial ribosome-associated GTPase 2																		AGGAACTCCCGGGGAAGAAGC	0.627000													3	25					0	0	1	0	0
COX16	51241	broad.mit.edu	37	14	70795912	70795912	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:70795912T>C	ENST00000389912.6	-	3	326	c.183A>G	c.(181-183)atA>atG	p.I61M	COX16_ENST00000557612.1_5'UTR|RP11-718G2.3_ENST00000555276.1_RNA	NM_016468.6	NP_057552.1			COX16 cytochrome c oxidase assembly homolog (S. cerevisiae)											large_intestine(1)|lung(2)	3						ACTCTAAAGATATTTTATTCT	0.303000													15	53					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118596680	118596680	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:118596680T>G	ENST00000360388.4	+	5	897	c.696T>G	c.(694-696)atT>atG	p.I232M		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	232					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCTATGGTATTTCTAACGTCT	0.443000													22	34					0	0	1	0	0
EDARADD	128178	broad.mit.edu	37	1	236572548	236572548	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:236572548G>A	ENST00000359362.5	+	2	278	c.64G>A	c.(64-66)Gac>Aac	p.D22N	EDARADD_ENST00000334232.4_Missense_Mutation_p.D32N	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	32					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGAAGACACAGACCCTAGCAC	0.308000													19	41					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088276	17088276	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:17088276C>G	ENST00000443236.1	-	15	1832	c.1801G>C	c.(1801-1803)Gtc>Ctc	p.V601L	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	554						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAAGGGGGACCATGCTGGGG	0.587000													14	28					0	0	1	0	0
LRRC36	55282	broad.mit.edu	37	16	67409205	67409205	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:67409205C>A	ENST00000329956.6	+	10	1569	c.1550C>A	c.(1549-1551)cCc>cAc	p.P517H	LRRC36_ENST00000290940.7_Missense_Mutation_p.P249H|LRRC36_ENST00000563189.1_Missense_Mutation_p.P396H|LRRC36_ENST00000541146.1_Missense_Mutation_p.P38T|LRRC36_ENST00000435835.3_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	517										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CACAGTCCCCCCATCTCTGCC	0.512000													97	229					4.09449e-47	4.75718e-47	1	1	0
DENND1C	79958	broad.mit.edu	37	19	6468392	6468392	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:6468392G>T	ENST00000381480.2	-	22	1756	c.1644C>A	c.(1642-1644)agC>agA	p.S548R	DENND1C_ENST00000543576.1_Missense_Mutation_p.S504R	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	548						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCAAGAAGCTGCTGTCCAGAG	0.587000													8	24					2.74318e-10	2.93287e-10	1	1	0
SAMD14	201191	broad.mit.edu	37	17	48192980	48192980	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:48192980G>T	ENST00000330175.4	-	7	1087	c.770C>A	c.(769-771)cCc>cAc	p.P257H	SAMD14_ENST00000503131.1_Missense_Mutation_p.P257H	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	257										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGCAGGTGGGGGAGGTGGT	0.622000													38	82					1.90571e-15	2.07053e-15	1	1	0
C10orf137	26098	broad.mit.edu	37	10	127438083	127438083	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:127438083C>T	ENST00000337623.3	+	21	3229	c.3124C>T	c.(3124-3126)Ctg>Ttg	p.L1042L	RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|C10orf137_ENST00000356792.4_Silent_p.L1076L	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TCCCTGCGAACTGCTTAGAGT	0.443000													29	25					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53622348	53622348	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:53622348C>T	ENST00000342160.3	-	29	3636	c.3179G>A	c.(3178-3180)gGc>gAc	p.G1060D	HUWE1_ENST00000262854.6_Missense_Mutation_p.G1060D|HUWE1_ENST00000218328.8_Missense_Mutation_p.G1060D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1060					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAGTGCTCGGCCTAATCTGGA	0.423000													14	5					0	0	1	0	0
IGLV2-14	28815	broad.mit.edu	37	22	23101561	23101561	+	RNA	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr22:23101561T>G	ENST00000390312.2	+	0	256																											ATTTATGAGGTCAGTAATCGG	0.547000													69	232					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182512	57182512	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:57182512C>T	ENST00000504228.1	+	6	2949	c.2844C>T	c.(2842-2844)caC>caT	p.H948H	KIAA1211_ENST00000541073.1_Silent_p.H941H|KIAA1211_ENST00000264229.6_Silent_p.H948H			Q6ZU35	K1211_HUMAN	KIAA1211	948	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTCCGGAGCACGACAAGGCAG	0.642000													13	17					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146054860	146054860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:146054860C>T	ENST00000446747.2	+	3	130	c.34C>T	c.(34-36)Cag>Tag	p.Q12*	ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000528372.1_Intron|ZNF7_ENST00000325217.5_Nonsense_Mutation_p.Q12*|ZNF7_ENST00000528130.1_Intron|ZNF7_ENST00000325241.6_Intron|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000544249.1_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	0	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		TGTGTCCTTTCAGGAGGTGGT	0.617000													152	105					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485513	60485513	+	Silent	SNP	C	C	T	rs148334531		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:60485513C>T	ENST00000360469.5	+	9	1312	c.1224C>T	c.(1222-1224)acC>acT	p.T408T	CDH4_ENST00000543233.1_Silent_p.T334T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	408	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTGGAGACCGTGGTCGCAA	0.527000													12	35					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44515253	44515253	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44515253T>C	ENST00000429154.2	+	5	1290	c.1062T>C	c.(1060-1062)caT>caC	p.H354H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TTTTGATCCATCAGCGAATCC	0.428000													30	153					0	0	1	0	0
ABHD11	83451	broad.mit.edu	37	7	73152999	73152999	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:73152999G>A	ENST00000222800.3	-	1	198	c.129C>T	c.(127-129)ggC>ggT	p.G43G	ABHD11_ENST00000395147.4_Silent_p.G43G|ABHD11_ENST00000437775.2_Silent_p.G43G|ABHD11_ENST00000458339.1_Silent_p.G43G|ABHD11_ENST00000468998.1_5'UTR	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	43							hydrolase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCCTCGGCCGCCGCTGCTGC	0.741000													9	8					0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414902	14414902	+	RNA	SNP	G	G	A	rs2821609	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr21:14414902G>A	ENST00000507941.1	+	0	95																											CCAGCTTGACGTCCTTGATGG	0.443000													6	35					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27460487	27460487	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:27460487C>A	ENST00000337929.3	+	9	1973	c.1500C>A	c.(1498-1500)agC>agA	p.S500R	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564089.1_Missense_Mutation_p.S500R|IL21R_ENST00000395754.4_Missense_Mutation_p.S500R|IL21R_ENST00000395755.1_Missense_Mutation_p.S500R	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	500					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CTGACTGCAGCAGCCCTGTGG	0.657000			T	BCL6	NHL								12	65					5.50884e-06	5.67834e-06	1	1	0
PCNXL2	80003	broad.mit.edu	37	1	233394939	233394939	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:233394939G>A	ENST00000258229.8	-	5	903	c.669C>T	c.(667-669)ctC>ctT	p.L223L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	223						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACCATTGATGAGAGTTTCTG	0.498000													12	103					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53519694	53519694	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:53519694G>A	ENST00000370905.3	-	2	517	c.377C>T	c.(376-378)gCa>gTa	p.A126V	KLHL31_ENST00000407079.1_Missense_Mutation_p.A126V	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	126	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GTAGGCATATGCAATGACAGT	0.413000													55	272					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28419625	28419625	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:28419625T>G	ENST00000261609.7	-	65	10081	c.9973A>C	c.(9973-9975)Aca>Cca	p.T3325P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3325					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCACAGTTGTCCACGCCACA	0.557000													16	19					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71838718	71838718	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:71838718A>C	ENST00000258104.3	+	38	4406	c.4129A>C	c.(4129-4131)Aac>Cac	p.N1377H	DYSF_ENST00000429174.2_Missense_Mutation_p.N1377H|DYSF_ENST00000409762.1_Missense_Mutation_p.N1394H|DYSF_ENST00000409744.1_Missense_Mutation_p.N1364H|DYSF_ENST00000410041.1_Missense_Mutation_p.N1395H|DYSF_ENST00000409651.1_Missense_Mutation_p.N1409H|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000413539.2_Missense_Mutation_p.N1408H|DYSF_ENST00000409366.1_Missense_Mutation_p.N1378H|DYSF_ENST00000394120.2_Missense_Mutation_p.N1378H|DYSF_ENST00000409582.3_Missense_Mutation_p.N1394H|DYSF_ENST00000410020.3_Missense_Mutation_p.N1395H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1377						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCCGGAAGAACCCCAACTT	0.577000													5	33					0	0	1	0	0
BATF	10538	broad.mit.edu	37	14	76012935	76012935	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:76012935C>T	ENST00000286639.6	+	3	557	c.299C>T	c.(298-300)aCg>aTg	p.T100M	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	100						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		GCCGCCAGCACGCCCTCGCCC	0.642000													5	20					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139706770	139706770	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:139706770T>A	ENST00000303045.6	-	34	3127	c.2681A>T	c.(2680-2682)cAg>cTg	p.Q894L	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q894L	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	894	Collagen-like 7.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AGTGGGTCCCTGAGGCCCCAA	0.612000										HNSCC(7;0.00092)			39	38					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570634	20570634	+	Missense_Mutation	SNP	G	G	A	rs141121285		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:20570634G>A	ENST00000329697.6	-	3	481	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	ACSM2B_ENST00000565232.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R26C|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R105C|ACSM2B_ENST00000414188.2_Missense_Mutation_p.R105C	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	105					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CGATCCCCACGCTGCAGGCCA	0.567000													11	23					0	0	1	0	0
GOLGA6L6	727832	broad.mit.edu	37	15	20743796	20743796	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:20743796C>T	ENST00000427390.2	-	4	498	c.408G>A	c.(406-408)acG>acA	p.T136T		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	136								p.T136T(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						TTTTCTGACACGTAAGGATTC	0.493000													4	37					0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614176	36614176	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:36614176T>G	ENST00000311485.3	-	2	1704	c.1543A>C	c.(1543-1545)Act>Cct	p.T515P		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	515					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TTGGCAGGAGTCAAGATTTTT	0.373000									Familial Hemophagocytic Lymphohistiocytosis				17	15					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32476104	32476104	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:32476104C>T	ENST00000404025.2	-	5	1317	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.V277I|NLRC4_ENST00000360906.5_Missense_Mutation_p.V277I			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	277	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GTAGTGGTGACGATGACCATG	0.522000													45	116					0	0	1	0	0
GSAP	54103	broad.mit.edu	37	7	76984631	76984631	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:76984631A>T	ENST00000257626.7	-	16	1315	c.1237T>A	c.(1237-1239)Tta>Ata	p.L413I		NM_017439.3	NP_059135.2			gamma-secretase activating protein																		AGCTGTAATAAAGACGACTGG	0.502000													50	72					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92249476	92249476	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:92249476C>T	ENST00000435962.2	-	12	1764	c.1441G>A	c.(1441-1443)Gtt>Att	p.V481I	TC2N_ENST00000556018.1_Missense_Mutation_p.V417I|TC2N_ENST00000360594.5_Missense_Mutation_p.V481I|TC2N_ENST00000340892.5_Missense_Mutation_p.V481I	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	481						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		CACCTGATAACAACCTTTTCT	0.328000													24	76					0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47342762	47342762	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:47342762G>A	ENST00000398879.1	-	22	3609	c.3243C>T	c.(3241-3243)caC>caT	p.H1081H	TNS3_ENST00000311160.9_Silent_p.H1081H|TNS3_ENST00000355730.3_Silent_p.H841H			Q68CZ2	TENS3_HUMAN	tensin 3	1081						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCCTGGACTGTGGTGGCTGC	0.667000													7	39					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50728272	50728272	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr22:50728272G>A	ENST00000449103.1	-	3	882	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PLXNB2_ENST00000359337.4_Missense_Mutation_p.R248C			O15031	PLXB2_HUMAN	plexin B2	248	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGCACATGCGTGCCAGCAGC	0.637000													34	23					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7703882	7703882	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:7703882C>T	ENST00000340209.4	+	9	1135	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	RBFOX1_ENST00000535565.2_Missense_Mutation_p.R232C|RBFOX1_ENST00000547338.1_Missense_Mutation_p.R275C|RBFOX1_ENST00000553186.1_Missense_Mutation_p.R248C|RBFOX1_ENST00000547372.1_Missense_Mutation_p.R318C|RBFOX1_ENST00000552089.1_Missense_Mutation_p.R292C|RBFOX1_ENST00000436368.2_Missense_Mutation_p.R295C|RBFOX1_ENST00000311745.5_Missense_Mutation_p.R295C|RBFOX1_ENST00000355637.4_Missense_Mutation_p.R295C|RBFOX1_ENST00000422070.4_Missense_Mutation_p.R318C|RBFOX1_ENST00000550418.1_Missense_Mutation_p.R275C			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	275					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCTGCGAGGCCGCGGTCGCAC	0.726000													14	24					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10368799	10368799	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:10368799G>A	ENST00000255381.2	-	5	575	c.465C>T	c.(463-465)atC>atT	p.I155I	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	155	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGATGGAGAAGATATGGGGTG	0.478000													58	111					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028771	37028771	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:37028771G>A	ENST00000358047.3	+	1	2340	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	763										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCATCTCCGCCCGGAGCCT	0.627000													31	13					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82369372	82369372	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:82369372G>A	ENST00000509081.1	-	5	723	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	RASGEF1B_ENST00000264400.2_Nonsense_Mutation_p.Q169*|RASGEF1B_ENST00000335927.7_Nonsense_Mutation_p.Q127*			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	169					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TCTTCGTACTGGCTGAGCGCA	0.463000													41	88					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716165	170716165	+	Silent	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:170716165A>G	ENST00000314251.3	-	10	1270	c.1191T>C	c.(1189-1191)agT>agC	p.S397S	SLC2A2_ENST00000382808.4_Silent_p.S278S	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	397					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TGCTCACATAACTCATCCAAG	0.433000													13	35					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41510326	41510326	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:41510326G>A	ENST00000324071.4	+	3	466	c.459G>A	c.(457-459)ctG>ctA	p.L153L	CYP2B6_ENST00000330446.5_Silent_p.L113L|CYP2B6_ENST00000593831.1_Silent_p.L77L|CYP2B6_ENST00000598834.1_3'UTR	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	153					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CTCAGTGTCTGATAGAGGAGC	0.527000													19	21					0	0	1	0	0
EPDR1	54749	broad.mit.edu	37	7	37988563	37988563	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:37988563T>A	ENST00000199448.4	+	2	770	c.391T>A	c.(391-393)Tcc>Acc	p.S131T	EPDR1_ENST00000559325.1_Missense_Mutation_p.S251T|EPDR1_ENST00000425345.1_Missense_Mutation_p.S70T|EPDR1_ENST00000423717.1_Intron|EPDR1_ENST00000476620.1_Missense_Mutation_p.S29T	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	131					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						TCCTCAAAACTCCACCTTTGA	0.512000													19	78					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50211036	50211036	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:50211036C>A	ENST00000284509.6	-	19	2176	c.2035_splice	c.e19+1	p.E679_splice	ATP8B4_ENST00000559829.1_Splice_Site_p.E679_splice	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	679					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318000													12	51					2.27111e-07	2.35306e-07	1	1	0
UNC79	57578	broad.mit.edu	37	14	94088956	94088956	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:94088956G>C	ENST00000553484.1	+	31	5597	c.5443G>C	c.(5443-5445)Gat>Cat	p.D1815H	UNC79_ENST00000256339.4_Missense_Mutation_p.D1616H|UNC79_ENST00000555664.1_Missense_Mutation_p.D1793H|UNC79_ENST00000393151.2_Missense_Mutation_p.D1793H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1793						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AGTTCCCGAAGATGCAGAGAA	0.542000													23	44					0	0	1	0	0
NRAP	4892	broad.mit.edu	37	10	115393949	115393949	+	Silent	SNP	G	G	A	rs141308047		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:115393949G>A	ENST00000369358.4	-	15	1693	c.1449C>T	c.(1447-1449)atC>atT	p.I483I	NRAP_ENST00000359988.3_Silent_p.I483I|NRAP_ENST00000360478.3_Silent_p.I448I|NRAP_ENST00000369360.3_Silent_p.I448I			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	483						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)		TCAACTTGTCGATGCTCTGCC	0.458000													50	53					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395471	76395471	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:76395471A>G	ENST00000357063.3	+	15	3782	c.2522A>G	c.(2521-2523)gAa>gGa	p.E841G	LMO7_ENST00000526202.1_Missense_Mutation_p.E406G|LMO7_ENST00000321797.8_Missense_Mutation_p.E556G|LMO7_ENST00000377534.3_Missense_Mutation_p.E841G|LMO7_ENST00000465261.2_Missense_Mutation_p.E556G|LMO7_ENST00000341547.4_Missense_Mutation_p.E507G			Q8WWI1	LMO7_HUMAN	LIM domain 7	841						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TATCCTTCAGAAATTCCCAAA	0.448000													21	51					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962753	73962753	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:73962753G>A	ENST00000373468.1	-	3	2290	c.1639C>T	c.(1639-1641)Cgc>Tgc	p.R547C	KIAA2022_ENST00000055682.5_Missense_Mutation_p.R547C			Q5QGS0	K2022_HUMAN	KIAA2022	547					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTTTAAAGCGATTAATGATG	0.403000													39	16					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690370	106690370	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:106690370C>T	ENST00000409944.1	+	4	279	c.48C>T	c.(46-48)gcC>gcT	p.A16A	C2orf40_ENST00000238044.3_Silent_p.A52A|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	52						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CTAAAGTGGCCGTTGATGAGA	0.527000													72	116					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40681307	40681307	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:40681307T>C	ENST00000298910.7	+	20	2713	c.2655T>C	c.(2653-2655)agT>agC	p.S885S	LRRK2_ENST00000343742.2_Silent_p.S885S	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	885					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTATGGACAGTGTGTTTGCTC	0.373000													8	47					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891710	115891710	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:115891710A>T	ENST00000264363.2	-	4	1775	c.1097T>A	c.(1096-1098)cTt>cAt	p.L366H		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	366	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCGAAGTAAAAGGTCATCTCC	0.393000													14	22					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44832686	44832686	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44832686T>G	ENST00000354340.4	-	4	1675	c.1624A>C	c.(1624-1626)Aca>Cca	p.T542P	ZNF112_ENST00000337401.4_Missense_Mutation_p.T548P|ZNF112_ENST00000536500.1_Missense_Mutation_p.T565P	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTCTCTCCTGTGTGGACTCTC	0.423000													41	191					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4835920	4835920	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:4835920G>A	ENST00000252318.2	+	2	771	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	145						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						GACCTCTTCCGGAAGTTTGGT	0.562000													17	64					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105025791	105025791	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:105025791A>T	ENST00000507740.1	+	16	2844	c.2608A>T	c.(2608-2610)Agg>Tgg	p.R870W	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1056W|RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000262231.10_Missense_Mutation_p.R895W	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1118	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAACCTCATGAGGTCGATGCC	0.498000										HNSCC(12;0.0054)			28	92					0	0	1	0	0
RGAG1	57529	broad.mit.edu	37	X	109694160	109694160	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:109694160G>A	ENST00000465301.2	+	3	561	c.315G>A	c.(313-315)atG>atA	p.M105I	RGAG1_ENST00000540313.1_Missense_Mutation_p.M105I	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	105										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CATTGCTAATGCCAGCCTCAG	0.527000													112	38					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141408764	141408764	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:141408764C>T	ENST00000397541.2	+	1	612	c.206C>T	c.(205-207)tCt>tTt	p.S69F	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	69					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTCGACACATCTTCGGAAAAA	0.522000													12	179					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153247244	153247244	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:153247244C>G	ENST00000281708.4	-	10	2787	c.1558G>C	c.(1558-1560)Gat>Cat	p.D520H	FBXW7_ENST00000603841.1_Missense_Mutation_p.D520H|FBXW7_ENST00000393956.3_Missense_Mutation_p.D344H|FBXW7_ENST00000296555.5_Missense_Mutation_p.D402H|FBXW7_ENST00000263981.5_Missense_Mutation_p.D440H|FBXW7_ENST00000603548.1_Missense_Mutation_p.D520H	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	520					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.D520N(3)|p.D520Y(2)|p.D440Y(1)|p.?(1)|p.D281Y(1)|p.D440N(1)|p.D281N(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACCATAAAATCATATGCTCCA	0.433000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								106	44					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114186	147114186	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:147114186G>A	ENST00000383075.3	-	3	653	c.141C>T	c.(139-141)caC>caT	p.H47H	ZIC4_ENST00000425731.3_Silent_p.H85H|ZIC4_ENST00000484399.1_Silent_p.H47H|ZIC4_ENST00000525172.2_Silent_p.H97H|ZIC4_ENST00000473123.1_Silent_p.H47H|ZIC4_ENST00000491672.1_Intron	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	47						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GAGGCTCCTCGTGGAGGCCCG	0.672000													4	29					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38862507	38862507	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:38862507C>T	ENST00000359357.3	+	57	8217	c.7963C>T	c.(7963-7965)Cat>Tat	p.H2655Y	DNAH8_ENST00000449981.2_Missense_Mutation_p.H2872Y|DNAH8_ENST00000441566.1_Missense_Mutation_p.H2619Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCTAAATTTCATTACATCTT	0.363000													24	8					0	0	1	0	0
MAP7D1	55700	broad.mit.edu	37	1	36638137	36638137	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:36638137G>A	ENST00000316156.4	+	4	986	c.533G>A	c.(532-534)cGc>cAc	p.R178H	MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.R178H|MAP7D1_ENST00000373150.4_Missense_Mutation_p.R178H			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	178						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CTCCAGGAGCGCCGGCGCCGG	0.642000													13	7					0	0	1	0	0
NBPF12	149013	broad.mit.edu	37	1	146397407	146397407	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:146397407G>T	ENST00000442909.2	+	6	1060	c.224G>T	c.(223-225)cGa>cTa	p.R75L	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.R75L					neuroblastoma breakpoint family, member 12											ovary(2)	2						AGGAATGAGCGACAGTTCAAG	0.527000													12	189					2.87052e-16	3.13573e-16	1	1	0
CNOT1	23019	broad.mit.edu	37	16	58571071	58571071	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:58571071C>T	ENST00000317147.5	-	39	5800	c.5468G>A	c.(5467-5469)cGt>cAt	p.R1823H	CNOT1_ENST00000245138.4_Missense_Mutation_p.R674H|CNOT1_ENST00000569240.1_Missense_Mutation_p.R1818H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1823					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCCATGAGCACGATCAATCAT	0.468000													8	82					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319835	21319835	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:21319835G>A	ENST00000583088.1	+	3	2076	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G394E	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GAGGCGGACGGAGACCAGGAC	0.657000										Prostate(3;0.18)			4	54					0	0	1	0	0
PLRG1	5356	broad.mit.edu	37	4	155459166	155459166	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:155459166T>C	ENST00000499023.2	-	13	1372	c.1246A>G	c.(1246-1248)Att>Gtt	p.I416V	PLRG1_ENST00000393905.2_Missense_Mutation_p.I416V|PLRG1_ENST00000302078.5_Missense_Mutation_p.I407V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	416						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTGTTAATAATAGCATTA	0.308000													69	20					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483418	12483418	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:12483418G>A	ENST00000535902.1	-	4	1402	c.839C>T	c.(838-840)aCg>aTg	p.T280M	MANSC1_ENST00000396349.3_Missense_Mutation_p.T246M|MANSC1_ENST00000545735.1_Missense_Mutation_p.T199M			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	280	Thr-rich.					integral to membrane		p.T281fs*1(1)|p.T280M(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		AATGAGGGTCGTGGGAGGCTG	0.547000													59	45					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179616133	179616133	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:179616133G>A	ENST00000360870.5	-	46	11216	c.10994C>T	c.(10993-10995)gCc>gTc	p.A3665V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9510	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTCTTGGCAGAACTCAT	0.363000													196	56					0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63481745	63481745	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:63481745C>T	ENST00000536984.2	+	4	1224	c.530C>T	c.(529-531)gCg>gTg	p.A177V	CDH7_ENST00000323011.3_Missense_Mutation_p.A177V|CDH7_ENST00000397968.2_Missense_Mutation_p.A177V			Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	177	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAAGTGACAGCGACGGATGCT	0.438000													23	59					0	0	1	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709340	128709340	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:128709340G>A	ENST00000392665.2	-	2	943	c.799C>T	c.(799-801)Ctt>Ttt	p.L267F	KCNJ1_ENST00000440599.2_Missense_Mutation_p.L267F|KCNJ1_ENST00000392664.2_Missense_Mutation_p.L286F|KCNJ1_ENST00000324036.3_Missense_Mutation_p.L267F|KCNJ1_ENST00000392666.1_Missense_Mutation_p.L267F	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	286					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TGCTGGAGAAGGGTCTCCGCT	0.478000													29	60					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963672	88963672	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:88963672C>T	ENST00000333190.4	+	4	1985	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	459						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAATGGCCTACGGAACTTCTG	0.428000										HNSCC(36;0.09)			18	44					0	0	1	0	0
PLA2G4F	255189	broad.mit.edu	37	15	42439887	42439887	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:42439887C>T	ENST00000397272.3	-	12	1230	c.1139G>A	c.(1138-1140)gGg>gAg	p.G380E	PLA2G4F_ENST00000382396.4_Missense_Mutation_p.G378E	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	378	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCCTGCAACCCTGCCAGGCT	0.577000													36	72					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	rs139377821	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453000													59	45					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149858147	149858147	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:149858147G>C	ENST00000369155.2	-	1	85	c.44C>G	c.(43-45)tCc>tGc	p.S15C		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	15					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGCTTTCTTGGAGCCCTTTTT	0.537000													43	92					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43433689	43433689	+	RNA	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:43433689A>T	ENST00000406070.2	-	0	710				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TGTGACACCAAATAGGTAGAG	0.522000													178	292					0	0	1	0	0
ZNF549	256051	broad.mit.edu	37	19	58049113	58049113	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:58049113T>A	ENST00000376233.3	+	4	922	c.741T>A	c.(739-741)taT>taA	p.Y247*	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Nonsense_Mutation_p.Y234*	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAAGCTTATAAGCGTAGGG	0.383000													42	55					0	0	1	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431630	56431630	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:56431630G>T	ENST00000302969.2	+	1	493	c.469G>T	c.(469-471)Gta>Tta	p.V157L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AGTGAGTTTAGTAGCCCACAC	0.512000													64	70					3.37043e-27	3.82744e-27	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724919	7724919	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:7724919A>T	ENST00000303635.7	+	9	2519	c.2312A>T	c.(2311-2313)aAc>aTc	p.N771I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N771I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	771					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCTTCAGCAACCAGTTCTCC	0.627000			T	WWTR1	epitheliod hemangioendothelioma								124	55					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118973944	118973944	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:118973944T>C	ENST00000328252.3	+	4	2020	c.1651T>C	c.(1651-1653)Tat>Cat	p.Y551H	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	551	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCATCTTTCTATGGCATGCC	0.517000													44	71					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215792410	215792410	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:215792410A>G	ENST00000259154.4	+	16	2039	c.1745A>G	c.(1744-1746)aAg>aGg	p.K582R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	582						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.K582M(1)		breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AGTGAAGATAAGGGTAGGTTC	0.393000													11	67					0	0	1	0	0
MLLT10	8028	broad.mit.edu	37	10	21823717	21823717	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:21823717C>G	ENST00000377072.3	+	2	492	c.144C>G	c.(142-144)agC>agG	p.S48R	MLLT10_ENST00000446906.2_Missense_Mutation_p.S48R|MLLT10_ENST00000377100.3_Missense_Mutation_p.S48R|MLLT10_ENST00000377059.3_Missense_Mutation_p.S48R|MLLT10_ENST00000377091.2_Missense_Mutation_p.S48R|MLLT10_ENST00000307729.7_Missense_Mutation_p.S48R|MLLT10_ENST00000495130.1_3'UTR	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	48					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ACGGCTGCAGCGTCGCGGTGC	0.682000			T	"""MLL, PICALM, CDK6"""	AL								4	41					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33500893	33500893	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:33500893C>G	ENST00000404816.2	+	18	3248	c.2895C>G	c.(2893-2895)gaC>gaG	p.D965E	LTBP1_ENST00000354476.3_Missense_Mutation_p.D966E|LTBP1_ENST00000407925.1_Missense_Mutation_p.D639E|LTBP1_ENST00000404525.1_Missense_Mutation_p.D586E|LTBP1_ENST00000418533.2_Missense_Mutation_p.D639E|LTBP1_ENST00000390003.4_Missense_Mutation_p.D640E|LTBP1_ENST00000402934.1_Missense_Mutation_p.D586E			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	965	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGAGGCCGGACGTCTGTGGGG	0.532000													41	160					0	0	1	0	0
PDE4D	5144	broad.mit.edu	37	5	59284494	59284494	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:59284494G>A	ENST00000502484.2	-	3	316	c.93C>T	c.(91-93)cgC>cgT	p.R31R	PDE4D_ENST00000546160.1_Silent_p.R31R	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GTTCCATTCCGCGGAAAGGGT	0.428000													33	18					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23905170	23905170	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:23905170C>G	ENST00000382298.3	-	10	13433	c.12845G>C	c.(12844-12846)gGt>gCt	p.G4282A	SACS_ENST00000402364.1_Missense_Mutation_p.G3532A|SACS_ENST00000382292.3_Missense_Mutation_p.G4282A	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4282					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GCTCTCTCTACCAGAGAAAAG	0.478000													46	55					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737262	4737262	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:4737262C>T	ENST00000545990.2	-	5	1330	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	AKAP3_ENST00000228850.1_Missense_Mutation_p.R269Q	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	269					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	p.R269L(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TTCCTGCCCTCGAAACCTCTT	0.443000													61	39					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9050539	9050539	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:9050539T>C	ENST00000382496.5	-	21	3541	c.2876A>G	c.(2875-2877)gAa>gGa	p.E959G		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	959					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCTTTTCTCTTCTACGCTACT	0.363000													10	11					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23915744	23915744	+	Silent	SNP	G	G	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr13:23915744G>C	ENST00000382298.3	-	10	2859	c.2271C>G	c.(2269-2271)ggC>ggG	p.G757G	SACS_ENST00000402364.1_Silent_p.G7G|SACS_ENST00000382292.3_Silent_p.G757G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	757					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCAATTCTCTGCCAGGCCAGA	0.363000													10	68					0	0	1	0	0
MAP2K2	5605	broad.mit.edu	37	19	4117549	4117549	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:4117549A>C	ENST00000262948.5	-	2	424	c.171T>G	c.(169-171)ttT>ttG	p.F57L	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	57			F -> C (in CFC syndrome).		activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGGGTGAGAAAGGCTTCCA	0.597000													32	63					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260353	65260353	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr14:65260353C>T	ENST00000389722.3	-	13	2081	c.2028G>A	c.(2026-2028)caG>caA	p.Q676Q	SPTB_ENST00000389720.3_Silent_p.Q676Q|SPTB_ENST00000542895.1_Silent_p.Q676Q|SPTB_ENST00000556626.1_Silent_p.Q676Q|SPTB_ENST00000389721.5_Silent_p.Q676Q	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	676					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTGCTTGCGCTGTAAGATGA	0.547000													18	21					0	0	1	0	0
SLC39A3	29985	broad.mit.edu	37	19	2733161	2733161	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:2733161G>A	ENST00000269740.4	-	3	862	c.533C>T	c.(532-534)tCg>tTg	p.S178L	AC006538.4_ENST00000586572.1_Intron|SLC39A3_ENST00000545664.1_Missense_Mutation_p.S178L	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	178						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGTGGGCCGACAGCGCGAA	0.721000													30	63					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	87951834	87951834	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:87951834G>A	ENST00000518476.1	+	4	334	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	95										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						GGAACTCAATGAAGGCAAAGA	0.338000													11	83					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215775490	215775490	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:215775490A>T	ENST00000259154.4	+	12	1379	c.1085A>T	c.(1084-1086)gAt>gTt	p.D362V		NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	362						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		CTGTATCATGATCCTTCAAAT	0.303000													28	47					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21492699	21492699	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:21492699G>T	ENST00000377142.4	-	2	1040	c.684C>A	c.(682-684)ttC>ttA	p.F228L	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	228					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGCCCGCCTGGAAGGTGGCGG	0.682000													11	28					2.80697e-09	2.96948e-09	1	1	0
PRKACG	5568	broad.mit.edu	37	9	71628058	71628058	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:71628058C>T	ENST00000377276.2	-	1	981	c.951G>A	c.(949-951)ccG>ccA	p.P317P		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	317	AGC-kinase C-terminal.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CTGTGTACTTCGGGATGAAGG	0.532000													46	24					0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44983616	44983616	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44983616T>C	ENST00000221327.4	-	4	499	c.218A>G	c.(217-219)aAc>aGc	p.N73S	ZNF180_ENST00000587047.1_Intron|ZNF180_ENST00000586637.1_Silent_p.E82E|ZNF180_ENST00000592529.1_Missense_Mutation_p.N46S|ZNF180_ENST00000391956.4_Missense_Mutation_p.N48S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AATTTTGAAGTTCACTCCTTC	0.483000													36	112					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532422	42532422	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr18:42532422C>G	ENST00000282030.5	+	4	3413	c.3117C>G	c.(3115-3117)agC>agG	p.S1039R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1039						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAGGGTTCAGCTACCCTATTC	0.448000									Schinzel-Giedion syndrome				10	39					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72866930	72866930	+	Silent	SNP	T	T	C			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:72866930T>C	ENST00000261180.4	+	5	1515	c.1419T>C	c.(1417-1419)ggT>ggC	p.G473G		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	473					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AATTTGTTGGTACAGACTACC	0.423000													44	56					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101740740	101740740	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:101740740T>G	ENST00000360264.3	+	5	418	c.398T>G	c.(397-399)cTg>cGg	p.L133R	CUX1_ENST00000437600.4_Missense_Mutation_p.L133R|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000547394.2_Missense_Mutation_p.L117R|CUX1_ENST00000546411.2_Missense_Mutation_p.L122R|CUX1_ENST00000292538.4_Missense_Mutation_p.L133R|CUX1_ENST00000292535.7_Missense_Mutation_p.L122R|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000556210.1_Missense_Mutation_p.L122R|CUX1_ENST00000549414.2_Missense_Mutation_p.L122R|CUX1_ENST00000550008.2_Missense_Mutation_p.L122R|CUX1_ENST00000393824.3_Missense_Mutation_p.L96R	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	122					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGGAAACTCTGGAAGAATAC	0.408000													5	67					0	0	1	0	0
IL16	3603	broad.mit.edu	37	15	81591957	81591957	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:81591957G>A	ENST00000394660.2	+	14	2650	c.2290G>A	c.(2290-2292)Gcc>Acc	p.A764T	IL16_ENST00000394652.2_Missense_Mutation_p.A63T|IL16_ENST00000302987.4_Missense_Mutation_p.A764T|IL16_ENST00000560230.1_3'UTR	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	764					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.A718T(1)|p.A764T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTGGACACCGCCAATGGCAC	0.557000													44	52					0	0	1	0	0
ADAMTS16	170690	broad.mit.edu	37	5	5319209	5319209	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr5:5319209C>T	ENST00000274181.7	+	23	3771	c.3633C>T	c.(3631-3633)taC>taT	p.Y1211Y		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1211	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y1211Y(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAAGTTCTACGGCAAGCAGT	0.522000													10	13					0	0	1	0	0
ZMYM1	79830	broad.mit.edu	37	1	35580081	35580081	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:35580081A>G	ENST00000373330.1	+	11	2824	c.2650A>G	c.(2650-2652)Ata>Gta	p.I884V	ZMYM1_ENST00000373329.1_3'UTR|ZMYM1_ENST00000359858.4_Missense_Mutation_p.I884V			Q5SVZ6	ZMYM1_HUMAN	zinc finger, MYM-type 1	884						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAATAAAACCATAGACATTTT	0.313000													24	8					0	0	1	0	0
RFC5	5985	broad.mit.edu	37	12	118456893	118456893	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:118456893C>A	ENST00000392542.2	+	3	552	c.19C>A	c.(19-21)Cca>Aca	p.P7T	RFC5_ENST00000454402.2_Missense_Mutation_p.P28T|RFC5_ENST00000229043.3_5'UTR	NM_181578.3	NP_853556.2	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa	28					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAAATACCGGCCACAGACCCT	0.373000													30	39					2.65835e-16	2.91982e-16	1	1	0
NPBWR2	2832	broad.mit.edu	37	20	62737451	62737451	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr20:62737451C>T	ENST00000369768.1	-	1	1073	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	245						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GGCTCCAGAGCGGAGCCGCAC	0.667000													9	21					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594934	55594934	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:55594934G>T	ENST00000378397.1	+	1	240	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TTGTGCCAAAGATGTTGGCTA	0.463000										HNSCC(27;0.073)			55	139					1.54886e-18	1.72956e-18	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21028240	21028240	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:21028240C>A	ENST00000381545.3	+	9	1018	c.799C>A	c.(799-801)Cta>Ata	p.L267I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.L267I|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.L267I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.L267I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	267					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGTGTCTGGACTATTTTCCAT	0.378000													22	172					1.96292e-10	2.10988e-10	1	1	0
ZNF549	256051	broad.mit.edu	37	19	58049114	58049114	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:58049114A>G	ENST00000376233.3	+	4	923	c.742A>G	c.(742-744)Aag>Gag	p.K248E	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.K235E	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K235*(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGCTTATAAGCGTAGGGA	0.383000													42	55					0	0	1	0	0
SLC2A2	6514	broad.mit.edu	37	3	170716163	170716163	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:170716163T>A	ENST00000314251.3	-	10	1272	c.1193A>T	c.(1192-1194)tAt>tTt	p.Y398F	SLC2A2_ENST00000382808.4_Missense_Mutation_p.Y279F	NM_000340.1	NP_000331.1	P11168	GTR2_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 2	398					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			CATGCTCACATAACTCATCCA	0.433000													14	34					0	0	1	0	0
RADIL	55698	broad.mit.edu	37	7	4917507	4917507	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:4917507G>A	ENST00000399583.3	-	2	451	c.264C>T	c.(262-264)agC>agT	p.S88S	RADIL_ENST00000536091.1_Silent_p.S88S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	88	Ras-associating.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCTCACGGGCGCTGGAGGTGC	0.672000													4	42					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs35873108	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602000													4	43					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131964216	131964216	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr8:131964216C>T	ENST00000286355.5	-	3	3231	c.1139G>A	c.(1138-1140)cGg>cAg	p.R380Q	ADCY8_ENST00000377928.3_Missense_Mutation_p.R380Q	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	380					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GACAACAAACCGGGGGAGCAC	0.547000										HNSCC(32;0.087)			41	33					0	0	1	0	0
ZNF112	7665	broad.mit.edu	37	19	44831819	44831819	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:44831819C>T	ENST00000354340.4	-	4	2542	c.2491G>A	c.(2491-2493)Gta>Ata	p.V831I	ZNF112_ENST00000337401.4_Missense_Mutation_p.V837I|ZNF112_ENST00000536500.1_Missense_Mutation_p.V854I	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTTCCACATACCTCACATTTG	0.448000													40	175					0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37917207	37917207	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:37917207C>T	ENST00000316950.6	-	4	646	c.89G>A	c.(88-90)aGa>aAa	p.R30K	ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000392149.2_Missense_Mutation_p.R30K|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000589833.1_Missense_Mutation_p.R54K	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTACAGTTTTCTCTGAGCAGG	0.388000													27	39					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50318532	50318532	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:50318532C>T	ENST00000404971.1	-	20	5106	c.3767G>A	c.(3766-3768)cGt>cAt	p.R1256H	NRXN1_ENST00000406859.3_Missense_Mutation_p.R1216H|NRXN1_ENST00000401710.1_Missense_Mutation_p.R234H|NRXN1_ENST00000406316.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000405472.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000402717.3_Missense_Mutation_p.R1208H|NRXN1_ENST00000401669.2_Missense_Mutation_p.R1216H|NRXN1_ENST00000342183.5_Missense_Mutation_p.R181H	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1216	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.R1257H(1)|p.R181H(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCTCGTGAAACGAACTACATG	0.473000													69	227					0	0	1	0	0
PCBP2	5094	broad.mit.edu	37	12	53849719	53849719	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:53849719C>T	ENST00000603815.1	+	5	527	c.177C>T	c.(175-177)atC>atT	p.I59I	PCBP2_ENST00000546463.1_Silent_p.I59I|PCBP2_ENST00000548933.1_Silent_p.I59I|PCBP2_ENST00000549863.1_Silent_p.I59I|PCBP2_ENST00000552296.2_Silent_p.I59I|PCBP2_ENST00000541275.1_Silent_p.I59I|PCBP2_ENST00000552819.1_Silent_p.I59I|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000455667.3_Silent_p.I59I|PCBP2_ENST00000447282.1_Silent_p.I59I|PCBP2_ENST00000439930.3_Silent_p.I59I|PCBP2_ENST00000437231.1_Silent_p.I59I|PCBP2_ENST00000359462.5_Silent_p.I59I|PCBP2_ENST00000359282.5_Silent_p.I59I	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	59	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AGAGAATTATCACTTTGGCTG	0.403000													36	101					0	0	1	0	0
UBXN4	23190	broad.mit.edu	37	2	136528287	136528287	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:136528287A>G	ENST00000272638.9	+	8	1115	c.804A>G	c.(802-804)atA>atG	p.I268M	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	268					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GAGAACGTATAAAACAGCAGA	0.373000													20	18					0	0	1	0	0
GRIK4	2900	broad.mit.edu	37	11	120776051	120776051	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:120776051A>G	ENST00000527524.2	+	13	1612	c.1325A>G	c.(1324-1326)gAc>gGc	p.D442G	GRIK4_ENST00000438375.2_Missense_Mutation_p.D442G			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	442					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GAAGGCAATGACCGCTACGAG	0.537000													72	92					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121008284	121008284	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr11:121008284G>A	ENST00000392793.1	+	11	3367	c.3096G>A	c.(3094-3096)acG>acA	p.T1032T	TECTA_ENST00000264037.2_Silent_p.T1032T			O75443	TECTA_HUMAN	tectorin alpha	1032	TIL 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGTGTGTCACGCGGAGTGAGT	0.577000													21	28					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588203	57588203	+	Missense_Mutation	SNP	G	G	T	rs146710883	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:57588203G>T	ENST00000243077.3	+	49	8451	c.7985G>T	c.(7984-7986)cGg>cTg	p.R2662L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2662	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCTGCGAGCGGACCTCACTC	0.662000													48	52					1.56793e-16	1.73161e-16	1	1	0
CCDC173	129881	broad.mit.edu	37	2	170510628	170510628	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:170510628G>A	ENST00000447353.1	-	6	1021	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		TGTATAAGACGCTTTTTTGCT	0.323000													5	5					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70954686	70954686	+	Silent	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:70954686C>A	ENST00000334414.6	-	17	4241	c.4197G>T	c.(4195-4197)ggG>ggT	p.G1399G	PTPRB_ENST00000551525.1_Silent_p.G1398G|PTPRB_ENST00000538708.1_Silent_p.G1091G|PTPRB_ENST00000451516.2_Silent_p.G1091G|PTPRB_ENST00000550857.1_Silent_p.G1091G|PTPRB_ENST00000550358.1_Silent_p.G1311G|PTPRB_ENST00000261266.5_Silent_p.G1181G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1181	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCCGATTGGACCCCCTGAGAT	0.458000													7	71					1	1	1	1	0
TP53	7157	broad.mit.edu	37	17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	rs28934874		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGGCGGGGGTGTGGAATCA	0.612000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			35	8					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50121103	50121103	+	RNA	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chrX:50121103T>A	ENST00000376025.2	-	0	3163							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTACCCGATCTCTTGTCAGCA	0.473000													21	17					0	0	1	0	0
CARHSP1	23589	broad.mit.edu	37	16	8952230	8952230	+	Silent	SNP	G	G	A	rs141833541	byFrequency	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:8952230G>A	ENST00000396593.2	-	3	617	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CARHSP1_ENST00000567554.1_Silent_p.P86P|RP11-77H9.2_ENST00000565934.1_RNA|CARHSP1_ENST00000562843.1_Silent_p.P86P|CARHSP1_ENST00000561530.1_Silent_p.P86P|CARHSP1_ENST00000311052.5_Silent_p.P86P	NM_001042476.1|NM_001278260.1|NM_001278261.1|NM_001278262.1|NM_001278263.1|NM_001278264.1|NM_001278265.1|NM_001278266.1|NM_014316.3	NP_001035941.1|NP_001265189.1|NP_001265190.1|NP_001265191.1|NP_001265192.1|NP_001265193.1|NP_001265194.1|NP_001265195.1|NP_055131.2	Q9Y2V2	CHSP1_HUMAN	calcium regulated heat stable protein 1, 24kDa	86	CSD.				intracellular signal transduction|regulation of mRNA stability|regulation of transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|P granule	DNA binding|mRNA 3'-UTR binding|phosphatase binding			endometrium(2)|lung(1)	3						GGAAGATGTCGGGGCCGCCAT	0.632000													5	28					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103248914	103248914	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:103248914T>A	ENST00000553106.1	-	6	1178	c.706_splice	c.e6+1	p.T236_splice	PAH_ENST00000307000.2_Splice_Site_p.T231_splice	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	236					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGGACTTACTCTGCAGGAAC	0.468000													18	37					0	0	1	0	0
INO80D	54891	broad.mit.edu	37	2	206869901	206869901	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:206869901G>A	ENST00000403263.1	-	11	2679	c.2275C>T	c.(2275-2277)Cca>Tca	p.P759S		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	759					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						ACGTTGGCTGGGGCAGAGAAC	0.557000													41	51					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45162189	45162189	+	Missense_Mutation	SNP	C	C	A	rs35385129	by1000genomes	TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr19:45162189C>A	ENST00000406449.4	+	6	1171	c.1171C>A	c.(1171-1173)Cgt>Agt	p.R391S	PVR_ENST00000425690.3_Intron|PVR_ENST00000403059.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Intron	NM_001135770.1	NP_001129242.1	P15151	PVR_HUMAN	poliovirus receptor	0					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCagagctgccgtaattgagc	0.532000													27	68					5.61819e-17	6.23898e-17	1	1	0
STK32B	55351	broad.mit.edu	37	4	5170173	5170173	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr4:5170173C>A	ENST00000282908.5	+	3	678	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	STK32B_ENST00000510398.1_Missense_Mutation_p.L39M|STK32B_ENST00000512636.1_Missense_Mutation_p.L39M	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	86	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CCTGGTCAATCTGTGGTGAGT	0.552000													5	10					0.014758	0.0149816	1	1	0
MYO3A	53904	broad.mit.edu	37	10	26500926	26500926	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:26500926C>T	ENST00000543632.1	+	17	1991	c.1931C>T	c.(1930-1932)gCg>gTg	p.A644V	MYO3A_ENST00000265944.5_3'UTR			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CGTCGGAAGGCGCTGGAGCCT	0.687000													3	13					0	0	1	0	0
DIP2A	23181	broad.mit.edu	37	21	47971553	47971553	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr21:47971553G>T	ENST00000318711.7	+	24	3032	c.2849G>T	c.(2848-2850)gGa>gTa	p.G950V	DIP2A_ENST00000417564.2_Missense_Mutation_p.G949V|DIP2A_ENST00000427143.2_Missense_Mutation_p.G885V|DIP2A_ENST00000400274.1_Missense_Mutation_p.G945V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	949					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CTAGAGGTTGGACCAGCCTCA	0.478000													13	4					2.27111e-07	2.35306e-07	1	1	0
MGA	23269	broad.mit.edu	37	15	41961254	41961254	+	Silent	SNP	G	G	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:41961254G>A	ENST00000219905.7	+	2	343	c.162G>A	c.(160-162)gtG>gtA	p.V54V	MGA_ENST00000570161.1_Silent_p.V54V|MGA_ENST00000389936.4_Silent_p.V54V|MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Silent_p.V54V|MGA_ENST00000545763.1_Silent_p.V54V	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	54						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTAGTAGTGTGTCATCACCAG	0.418000													6	111					0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141537030	141537030	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr7:141537030C>T	ENST00000350549.3	-	4	820	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	PRSS37_ENST00000438520.1_Missense_Mutation_p.R150Q	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	150	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CAGGTTCTGCCGCAAGTCAGG	0.458000													32	32					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214825109	214825109	+	Silent	SNP	C	C	T			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:214825109C>T	ENST00000366955.3	+	15	8208	c.8040C>T	c.(8038-8040)tgC>tgT	p.C2680C	CENPF_ENST00000467765.1_3'UTR	NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2776	Sufficient for centromere localization.|Sufficient for self-association.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCCTAGATTGCATGCACAAAG	0.388000													16	43					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61719576	61719576	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr2:61719576T>G	ENST00000401558.2	-	15	2334	c.1607A>C	c.(1606-1608)aAt>aCt	p.N536T	XPO1_ENST00000406957.1_Missense_Mutation_p.N536T|XPO1_ENST00000404992.2_Missense_Mutation_p.N536T	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	536	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AATAGCTTTATTATCTTTGCC	0.299000			Mis		CLL								18	33					0	0	1	0	0
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gttcagfs	p.Q320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													5	4	---	---	---	---					
SDHAP1	255812	broad.mit.edu	37	3	195711568	195711568	+	RNA	DEL	T	T	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr3:195711568delT	ENST00000427841.1	-	0	379					NR_003264.2																						CCACCTCCAGTTGTCCTCCTC	0.572													7	83	---	---	---	---					
ICK	22858	broad.mit.edu	37	6	52883129	52883129	+	Splice_Site	DEL	T	T	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr6:52883129delT	ENST00000356971.3	-	8	1151	c.663_splice	c.e8+1	p.K221_splice	ICK_ENST00000350082.5_Splice_Site_p.K221_splice	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	221	Protein kinase.				intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					TATCATTACCTTTTTTGGTGT	0.502													10	524	---	---	---	---					
TLE1	7088	broad.mit.edu	37	9	84202720	84202720	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:84202720delC	ENST00000376499.3	-	17	2917	c.1853delG	c.(1852-1854)gafs	p.G618fs		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	618					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						ACAGCTGGCTCCGTCTGTGTG	0.502													22	42	---	---	---	---					
ABL1	25	broad.mit.edu	37	9	133759490	133759492	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr9:133759490_133759492delAAG	ENST00000318560.5	+	11	2194_2196	c.1813_1815delAAG	c.(1813-1815)del	p.K609del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	609	Poly-Lys.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CGCCTTGATCAAGAAGAAGAAGA	0.616			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""								7	168	---	---	---	---					
NOC3L	64318	broad.mit.edu	37	10	96097619	96097620	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr10:96097619_96097620insA	ENST00000371361.3	-	19	2203_2204	c.2103_2104insT	c.(2101-2106)caccatfs	p.H702fs	NOC3L_ENST00000371350.1_Frame_Shift_Ins_p.H702fs|NOC3L_ENST00000543788.1_Frame_Shift_Ins_p.H440fs	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	702						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGCACTATGGGATGATAATGCC	0.431													11	41	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100441863	100441865	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr12:100441863_100441865delAAT	ENST00000279907.7	-	18	4040_4042	c.3828_3830delATT	c.(3826-3831)ggt>gg	p.GF1276del	UHRF1BP1L_ENST00000545232.2_In_Frame_Del_p.GF926del	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1276										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GCACTGCAGAAATCCATTTTTTT	0.365													16	29	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:23331163delA	ENST00000560464.1	-	0	908																											AATAAATACTAAAAAAAAAAA	0.368													2	4	---	---	---	---					
NPAP1	23742	broad.mit.edu	37	15	24921938	24921938	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr15:24921938delC	ENST00000329468.2	+	1	1398	c.924delC	c.(922-924)ttfs	p.F308fs		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.F308L(1)									AGAAGCCTTTCTGTATTCCTC	0.582													12	64	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													7	200	---	---	---	---					
KIAA0753	9851	broad.mit.edu	37	17	6493123	6493139	+	Frame_Shift_Del	DEL	AAGGAGCCTACAGCCTC	AAGGAGCCTACAGCCTC	-			TCGA-CQ-5332-01A-01D-1683-08	TCGA-CQ-5332-10A-01D-1683-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fdf4f0d-0a55-4b5e-8545-65f1aad37c10	55e19ee2-02cb-4f91-9108-1a71faad685d	g.chr17:6493123_6493139delAAGGAGCCTACAGCCTC	ENST00000361413.3	-	18	3104_3120	c.2746_2762delGAGGCTGTAGGCTCCTT	c.(2746-2763)cfs	p.EAVGSF916fs	KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.EAVGSF617fs|KIAA0753_ENST00000589033.1_Frame_Shift_Del_p.EAVGSF372fs|KIAA0753_ENST00000575027.1_5'UTR|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.EAVGSF617fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	916						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCACGGGTTGAAGGAGCCTACAGCCTCATGAGATATG	0.470													14	66	---	---	---	---