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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYH10	4628	broad.mit.edu	37	17	8415804	8415804	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:8415804G>A	uc002glm.3	-	23	3013	c.2917C>T	c.(2917-2919)Caa>Taa	p.Q973*	MYH10_uc002gll.3_Nonsense_Mutation_p.Q942*|MYH10_uc010cnx.3_Nonsense_Mutation_p.Q951*	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	942					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTTCATTTTGGAGGATTTGG	0.333000														17			6		0	0	0.029380	0	0
DNAH7	56171	broad.mit.edu	37	2	196659167	196659167	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:196659167C>T	uc002utj.4	-	56	10712	c.10611G>A	c.(10609-10611)gtG>gtA	p.V3537V	DNAH7_uc002uti.4_Silent_p.V20V	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3537	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGGTCATTTTCACTCCATTCT	0.453000														68			20		0	0	0.076483	0	0
TTC14	151613	broad.mit.edu	37	3	180326584	180326584	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:180326584A>T	uc003fkk.3	+	10	1518	c.1386A>T	c.(1384-1386)ttA>ttT	p.L462F	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.L462F	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	462							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTAAGCTCTTAAAAGAAGAGA	0.303000														0			3		0	0	0.021553	0	0
VANGL2	57216	broad.mit.edu	37	1	160385937	160385937	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:160385937C>T	uc001fwb.2	+	3	456	c.157C>T	c.(157-159)Ctg>Ttg	p.L53L	VANGL2_uc001fwc.2_Silent_p.L53L	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	53					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane		p.P52P(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CGGGGAGCCCCTGCTGGACAA	0.667000														86			4		0	0	0.029380	0	0
VSIG10	54621	broad.mit.edu	37	12	118517408	118517408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:118517408G>A	uc001tws.3	-	3	1002	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	223	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						TGATGGAGGGGGATCTGCAAA	0.562000														50			40		0	0	0.139131	0	0
ITGAE	3682	broad.mit.edu	37	17	3618181	3618181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:3618181G>A	uc002fwo.4	-	30	3599	c.3500C>T	c.(3499-3501)gCc>gTc	p.A1167V	ITGAE_uc002fwn.4_Non-coding_Transcript	NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	1167					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTTCAGCTGGGCCTTCCTGAT	0.468000														28			10		0	0	0.080935	0	0
SH2B2	10603	broad.mit.edu	37	7	101950084	101950084	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:101950084G>A	uc011kko.2	+	2	984	c.939G>A	c.(937-939)aaG>aaA	p.K313K		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	270					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						TGCCAGAGAAGGATAACACAT	0.587000														8			6		0	0	0.029380	0	0
OR6K6	128371	broad.mit.edu	37	1	158725180	158725180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:158725180C>T	uc001fsw.1	+	0	575	c.575C>T	c.(574-576)tCc>tTc	p.S192F		NM_001005184	NP_001005184	Q8NGW6	OR6K6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 6 (OR6K6), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GCATGGATTTCCACCTTGCCT	0.478000														34			24		0	0	0.091800	0	0
KIF5A	3798	broad.mit.edu	37	12	57958276	57958276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:57958276C>T	uc001sor.1	+	4	638	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	KIF5A_uc010srr.1_Missense_Mutation_p.R55C	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	144	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	p.R144C(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGACAAAATTCGTGACCTTCT	0.418000														51			31		0	0	0.054565	0	0
MYADML	151325	broad.mit.edu	37	2	33952207	33952207	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:33952207G>A	uc002rpb.3	-	0	1078	c.636C>T	c.(634-636)atC>atT	p.I212I						Homo sapiens myeloid-associated differentiation marker-like (MYADML), non-coding RNA.																		GGCGGTCCCAGATACACACAA	0.577000														6			3		0	0	0.115264	0	0
PARP6	56965	broad.mit.edu	37	15	72557446	72557446	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:72557446G>A	uc002auc.3	-	5	763	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	PARP6_uc002aua.3_5'UTR|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.L102F	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	102							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						TACTGGGAGAGAGAAAATCGC	0.478000														14			29		0	0	0.086207	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120417	12120417	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:12120417C>T	uc003nac.3	+	3	568	c.389C>T	c.(388-390)tCc>tTc	p.S130F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	130					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAATCTGTCTCCCCAAAGAAG	0.428000														99			10		0	0	0.069234	0	0
CAPN9	10753	broad.mit.edu	37	1	230930937	230930937	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:230930937G>T	uc001htz.1	+	17	2012	c.1899G>T	c.(1897-1899)caG>caT	p.Q633H	CAPN9_uc009xfg.1_Missense_Mutation_p.Q570H|CAPN9_uc001hua.1_Missense_Mutation_p.Q607H	NM_006615	NP_006606	O14815	CAN9_HUMAN	Homo sapiens calpain 9 (CAPN9), transcript variant 1, mRNA.	633	Domain IV.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ACCTCCTGCAGCTGATTGTGC	0.592000														50			24		1.1804e-14	1.23893e-14	0.091800	1	0
PDGFRA	5156	broad.mit.edu	37	4	55144678	55144678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:55144678C>T	uc003han.4	+	14	2483	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W	PDGFRA_uc003haa.3_Missense_Mutation_p.R478W|PDGFRA_uc010igq.1_Missense_Mutation_p.R612W|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.R97W	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	718	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAAGCACACGGAGGTGGGT	0.443000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				67			6		0	0	0.029380	0	0
CHTF18	63922	broad.mit.edu	37	16	846741	846741	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:846741C>T	uc002ckf.4	+	17	2628	c.2565C>T	c.(2563-2565)ttC>ttT	p.F855F	CHTF18_uc002cke.4_Silent_p.F827F|CHTF18_uc010brf.3_Silent_p.F409F|CHTF18_uc002ckg.4_Silent_p.F345F	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	827					DNA replication|cell cycle	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCTGCCGCTTCCCTGAGCTGC	0.687000														20			10		0	0	0.080935	0	0
NOP10	55505	broad.mit.edu	37	15	34635360	34635361	+	Splice_Site	DNP	CC	TT	TT			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:34635360_34635361CC>TT	uc001zie.1	-	1	1	c.-87_splice	c.e1-1		C15orf55_uc010ucc.2_5'Flank|C15orf55_uc010ucd.2_5'Flank|C15orf55_uc001zif.3_5'Flank	NM_018648	NP_061118	Q9NPE3	NOP10_HUMAN	Homo sapiens NOP10 ribonucleoprotein homolog (yeast) (NOP10), mRNA.						pseudouridine synthesis|rRNA processing	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			lung(1)|ovary(1)	2						TCGTCAATTTCCTTCCTGCATA	0.540000											OREG0023034	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		3			4		0	0	0.115264	0	0
COL21A1	81578	broad.mit.edu	37	6	55933851	55933851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:55933851C>T	uc003pcs.3	-	21	2316	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	COL21A1_uc010jzz.3_Missense_Mutation_p.G80E|COL21A1_uc011dxg.2_Missense_Mutation_p.G80E|COL21A1_uc011dxh.2_Missense_Mutation_p.G80E|COL21A1_uc003pcr.3_Missense_Mutation_p.E53K	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	695	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TACCTTTTTTCCTTGAATCCC	0.403000														4			13		0	0	0.146539	0	0
PGLYRP1	8993	broad.mit.edu	37	19	46522828	46522828	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:46522828C>T	uc002pdx.2	-	1	642	c.365G>A	c.(364-366)tGg>tAg	p.W122*		NM_005091	NP_005082	O75594	PGRP1_HUMAN	Homo sapiens peptidoglycan recognition protein 1 (PGLYRP1), mRNA.	122					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	N-acetylmuramoyl-L-alanine amidase activity|bacterial cell surface binding|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		CATGGGGTTCCATAAGTGACC	0.597000														45			29		0	0	0.045705	0	0
ZNF730	100129543	broad.mit.edu	37	19	23329273	23329273	+	RNA	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:23329273G>A	uc002nrb.1	+	3		c.1626G>A								Synthetic construct DNA, clone: pF1KB7766, Homo sapiens ZNF730 gene for zinc finger protein 730, without stop codon, in Flexi system.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATTCATTCTGGGGAAAAAATC	0.363000														21			12		0	0	0.105934	0	0
WSCD1	23302	broad.mit.edu	37	17	5984093	5984093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:5984093C>T	uc010cli.3	+	1	494	c.115C>T	c.(115-117)Cgc>Tgc	p.R39C	WSCD1_uc002gcn.3_Missense_Mutation_p.R39C|WSCD1_uc002gco.3_Missense_Mutation_p.R39C|WSCD1_uc010clj.3_5'UTR	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	39						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						GCAGCGGGTCCGCGTGGCTCT	0.687000														4			8		0	0	0.058154	0	0
KLHDC10	23008	broad.mit.edu	37	7	129765758	129765758	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:129765758C>T	uc003vpj.2	+	6	1053	c.918C>T	c.(916-918)ccC>ccT	p.P306P	KLHDC10_uc003vpk.2_Silent_p.P277P|KLHDC10_uc010lmb.2_Silent_p.P203P	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	306										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAACAAAACCCCATGAAAAAA	0.274000														17			12		0	0	0.080935	0	0
GLYATL1	92292	broad.mit.edu	37	11	58715349	58715349	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:58715349C>G	uc001nnh.2	+	3	240	c.190C>G	c.(190-192)Cac>Gac	p.H64D	GLYATL1_uc001nnf.3_Missense_Mutation_p.H33D|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.H33D|GLYATL1_uc001nnj.2_Missense_Mutation_p.H33D	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	33						mitochondrion	glycine N-acyltransferase activity	p.Y63H(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	CTCTGTGTATCACATCAATCA	0.498000														67			3		0	0	0.009096	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357913	149357913	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:149357913A>G	uc003lrh.3	+	2	967	c.699_splice	c.e2+1	p.Q233_splice		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	233						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GGAGTTTATCAGGTAAGCAGC	0.348000														78			3		0	0	0.115264	0	0
TCL1B	9623	broad.mit.edu	37	14	96152839	96152840	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:96152839_96152840CC>TT	uc001yfa.3	+	0	86_87	c.35_36CC>TT	c.(34-36)ccc>cTT	p.P12L	TCL1B_uc021sbi.1_Intron|TCL1B_uc001yew.3_Intron|TCL1B_uc001yex.3_Intron|TCL1B_uc010avj.3_Intron|TCL1B_uc001yez.3_Missense_Mutation_p.P12L	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	12										cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CTAGGGGTGCCCCCTGGCCGTC	0.609000														42			42		0	0	0.115264	0	0
BICC1	80114	broad.mit.edu	37	10	60546785	60546785	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:60546785T>A	uc001jki.1	+	4	490	c.490T>A	c.(490-492)Tgc>Agc	p.C164S		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	164	KH 1.				multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAACCGGATGCCATATCCA	0.393000														12			25		0	0	0.125774	0	0
ABCB6	10058	broad.mit.edu	37	2	220082977	220082977	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:220082977A>C	uc002vkc.2	-	0	2198	c.419T>G	c.(418-420)aTc>aGc	p.I140S	ABCB6_uc010fwe.2_Missense_Mutation_p.I140S|ABCB6_uc010zku.1_Non-coding_Transcript|ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vke.1_3'UTR|ATG9A_uc002vkf.1_3'UTR	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	140					cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTGATCCAGATGCCCATTGC	0.632000														111			41		0	0	0.139131	0	0
SEMA6B	10501	broad.mit.edu	37	19	4550813	4550813	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:4550813G>A	uc010dud.2	-	10	1381	c.1119C>T	c.(1117-1119)ccC>ccT	p.P373P	SEMA6B_uc010xih.1_Silent_p.P373P	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	373	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		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)		GTTCTCACCGGGGTCGAGGCA	0.632000														38			22		0	0	0.134883	0	0
MUC16	94025	broad.mit.edu	37	19	9061470	9061470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:9061470G>A	uc002mkp.3	-	2	26180	c.25976C>T	c.(25975-25977)tCc>tTc	p.S8659F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8661	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGAAGGGGATAGATGTTT	0.433000														39			24		0	0	0.116897	0	0
VPS13D	55187	broad.mit.edu	37	1	12460273	12460273	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:12460273C>T	uc001atv.3	+	60	11811	c.11670C>T	c.(11668-11670)ttC>ttT	p.F3890F	VPS13D_uc001atw.3_Silent_p.F3865F|VPS13D_uc001atx.3_Silent_p.F3077F|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3889					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CGCAGCCCTTCATGCTCTATG	0.493000														36			35		0	0	0.139131	0	0
XIST	7503	broad.mit.edu	37	X	73067839	73067839	+	RNA	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:73067839G>A	uc004ebm.1	-	0		c.4750C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		GTCTTGACTAGAGGTCATCCA	0.418000														6			25		0	0	0.108266	0	0
KCTD8	386617	broad.mit.edu	37	4	44176989	44176989	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:44176989G>T	uc003gwu.3	-	1	1524	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	414						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ATGAGGGTCTGAAAGAGTTCA	0.428000										HNSCC(17;0.042)				245			24		9.65021e-13	1.00457e-12	0.045705	1	0
TAS2R43	259289	broad.mit.edu	37	12	11244556	11244556	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:11244556G>A	uc001qzq.1	-	0	357	c.273C>T	c.(271-273)atC>atT	p.I91I	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176884	NP_795365	P59537	T2R43_HUMAN	Homo sapiens taste receptor, type 2, member 43 (TAS2R43), mRNA.	91					detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGAAATGGTTGATCACTGCCC	0.358000														52			9		0	0	0.080935	0	0
ITGA5	3678	broad.mit.edu	37	12	54799084	54799084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:54799084C>T	uc001sga.3	-	11	1159	c.1091G>A	c.(1090-1092)aGg>aAg	p.R364K	ITGA5_uc010sow.1_Non-coding_Transcript|ITGA5_uc009znp.1_Non-coding_Transcript	NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	364					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						GACGTAGACCCTGCCCACCTC	0.642000														12			13		0	0	0.043863	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146376	70146376	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:70146376T>G	uc003hej.3	+	0	160	c.158T>G	c.(157-159)gTg>gGg	p.V53G	UGT2B28_uc010ihr.3_Missense_Mutation_p.V53G	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	53					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGTCATGAGGTGACTGTACTG	0.418000														155			49		0	0	0.139131	0	0
KRIT1	889	broad.mit.edu	37	7	91865832	91865832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:91865832G>A	uc003ulr.1	-	6	1272	c.380C>T	c.(379-381)cCa>cTa	p.P127L	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Missense_Mutation_p.P127L|KRIT1_uc003uls.1_Missense_Mutation_p.P127L|KRIT1_uc003ult.1_Missense_Mutation_p.P127L|KRIT1_uc003ulu.1_Missense_Mutation_p.P127L|KRIT1_uc003ulv.1_Missense_Mutation_p.P127L	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	127					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGGCATCCTGGGGTATATGT	0.323000														37			23		0	0	0.099896	0	0
ZNF90	7643	broad.mit.edu	37	19	20236224	20236224	+	RNA	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:20236224C>T	uc021url.1	+	2		c.648C>T						Q03938	ZNF90_HUMAN	Homo sapiens zinc finger protein 90 (ZNF90), mRNA.							Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TAGCTGATCCCCGTCGCTGCA	0.498000														22			9		0	0	0.069234	0	0
KCNH7	90134	broad.mit.edu	37	2	163236481	163236481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:163236481C>T	uc002uch.2	-	13	3242	c.3013G>A	c.(3013-3015)Gaa>Aaa	p.E1005K		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	1005					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTGGAGTCTTCAGGCTGGGGA	0.507000														80			32		0	0	0.054565	0	0
B4GALNT4	338707	broad.mit.edu	37	11	380422	380422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:380422G>A	uc001lpb.3	+	17	2855	c.2846G>A	c.(2845-2847)gGg>gAg	p.G949E		NM_178537	NP_848632	Q76KP1	B4GN4_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 4 (B4GALNT4), mRNA.	949						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAGCTGCGGGAGCTCGCCC	0.697000														5			17		0	0	0.033300	0	0
BRPF1	7862	broad.mit.edu	37	3	9780745	9780745	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:9780745A>G	uc003bse.3	+	2	1061	c.662A>G	c.(661-663)gAc>gGc	p.D221G	BRPF1_uc003bsf.3_Missense_Mutation_p.D221G|BRPF1_uc003bsg.3_Missense_Mutation_p.D221G|BRPF1_uc011ati.2_Missense_Mutation_p.D221G	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	221	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GACGAGGAGGACTACATCTGG	0.507000														12			34		0	0	0.104719	0	0
CBL	867	broad.mit.edu	37	11	119155688	119155689	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:119155688_119155689CC>TT	uc001pwe.3	+	9	1579_1580	c.1441_1442CC>TT	c.(1441-1443)ccg>TTg	p.P481L		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	481	Pro-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GGTGGAACGGCCGCCTTCTCCA	0.505000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies		OREG0021401	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		20			46		0	0	0.115264	0	0
THADA	63892	broad.mit.edu	37	2	43514128	43514128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:43514128G>A	uc002rsw.4	-	34	5435	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	THADA_uc010far.3_Missense_Mutation_p.P890S|THADA_uc002rsx.4_Missense_Mutation_p.P1695S|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1695							binding	p.P1695P(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACTCTGTAGGAAGATGGTCT	0.488000														22			15		0	0	0.033300	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24890227	24890227	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:24890227G>A	uc001upj.3	+	1	147	c.86G>A	c.(85-87)gGa>gAa	p.G29E	SPATA13_uc001upe.3_Non-coding_Transcript	NM_178540	NP_848635	P0C862	C1T9A_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 9 (C1QTNF9), mRNA.	29	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGGCACCCTGGAATCCCTGGG	0.557000														48			30		0	0	0.117977	0	0
ZNF583	147949	broad.mit.edu	37	19	56935571	56935571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:56935571C>T	uc010ygl.1	+	4	1709	c.1544C>T	c.(1543-1545)aCt>aTt	p.T515I	ZNF583_uc002qnc.2_Missense_Mutation_p.T515I|ZNF583_uc010ygm.1_Missense_Mutation_p.T515I	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		AGAATTCATACTGGAGAAAGA	0.383000														72			33		0	0	0.074837	0	0
GBP2	2634	broad.mit.edu	37	1	89582841	89582841	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:89582841G>A	uc001dmz.1	-	5	973	c.702C>T	c.(700-702)ttC>ttT	p.F234F	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	234					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AATCGAAGACGAAGCACTTCC	0.423000														36			12		0	0	0.093190	0	0
AKAP10	11216	broad.mit.edu	37	17	19866217	19866217	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:19866217A>C	uc002gwo.3	-	2	392	c.255T>G	c.(253-255)agT>agG	p.S85R	AKAP10_uc002gwp.1_Missense_Mutation_p.S85R|AKAP10_uc010cqw.1_Missense_Mutation_p.S85R|AKAP10_uc010vze.1_Missense_Mutation_p.S6R	NM_007202	NP_009133	O43572	AKA10_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 10 (AKAP10), nuclear gene encoding mitochondrial protein, mRNA.	85					blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					CTGTCCTGCTACTTGAAAAGG	0.443000														90			45		0	0	0.139131	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32890574	32890574	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:32890574G>A	uc002edh.1	-	4	488	c.312C>T	c.(310-312)ttC>ttT	p.F104F	SLC6A10P_uc002edi.1_Non-coding_Transcript					Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																		AGGACAGCACGAAGGCCCAGC	0.607000														14			8		0	0	0.047766	0	0
TOR1AIP1	26092	broad.mit.edu	37	1	179870514	179870514	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:179870514G>C	uc001gnq.3	+	4	948	c.730G>C	c.(730-732)Gaa>Caa	p.E244Q	TOR1AIP1_uc001gnp.1_Missense_Mutation_p.E245Q	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	244						integral to membrane|nuclear inner membrane		p.D243Y(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GGATTCTGATGAATCTGGAGG	0.333000														27			8		0	0	0.058154	0	0
AGPAT4	56895	broad.mit.edu	37	6	161560467	161560467	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:161560467G>A	uc003qtr.1	-	7	1256	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	AGPAT4_uc003qts.1_Silent_p.L203L|AGPAT4_uc011egb.1_Silent_p.L181L	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	343					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAAAGAAGACGAGGATGAAGC	0.597000														39			63		0	0	0.139131	0	0
MMP24	10893	broad.mit.edu	37	20	33862257	33862257	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:33862257G>A	uc002xbu.2	+	8	1786	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	595					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCATCAACGATGTGCCGGG	0.617000														109			77		0	0	0.139131	0	0
CILP	8483	broad.mit.edu	37	15	65497795	65497795	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:65497795C>T	uc002aon.2	-	4	615	c.434G>A	c.(433-435)cGc>cAc	p.R145H		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	145					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TGTGTCTCGGCGCAGGGATCC	0.557000														44			8		0	0	0.058154	0	0
MAST3	23031	broad.mit.edu	37	19	18232549	18232549	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:18232549C>T	uc002nhz.4	+	2	126	c.126C>T	c.(124-126)ctC>ctT	p.L42L		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	42							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CCCCGACCCTCTCCCGGCCCC	0.697000														93			57		0	0	0.139131	0	0
NSUN5	55695	broad.mit.edu	37	7	72721484	72721484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:72721484C>T	uc003txw.3	-	3	484	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R136Q|NSUN5_uc003txv.3_Missense_Mutation_p.R136Q|NSUN5_uc003txx.3_Missense_Mutation_p.R98Q	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	136							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				ACGCACAAATCGAGGCAGCTG	0.547000														84			19		0	0	0.049695	0	0
DHTKD1	55526	broad.mit.edu	37	10	12149948	12149948	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:12149948C>T	uc001ild.4	+	11	2187	c.2088C>T	c.(2086-2088)ctC>ctT	p.L696L		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	696					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TCGTCATCCTCCTTCCACATG	0.547000														22			37		0	0	0.124865	0	0
ROR2	4920	broad.mit.edu	37	9	94487029	94487029	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:94487029C>T	uc004arj.2	-	8	1946	c.1747G>A	c.(1747-1749)Gtg>Atg	p.V583M	ROR2_uc004ari.1_Missense_Mutation_p.V443M	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	583	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCGGACTTCACCGTGCGGTCA	0.627000														7			13		0	0	0.119110	0	0
KLHL20	27252	broad.mit.edu	37	1	173702872	173702872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:173702872G>A	uc001gjc.3	+	2	223	c.44G>A	c.(43-45)gGa>gAa	p.G15E	KLHL20_uc010pmr.2_Intron|KLHL20_uc009wwf.3_5'UTR|KLHL20_uc001gjd.3_Missense_Mutation_p.G15E	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	15					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATTCGACCAGGAGAGACTGGA	0.478000														56			27		0	0	0.054565	0	0
UNC13C	440279	broad.mit.edu	37	15	54306842	54306842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:54306842C>T	uc021smr.1	+	0	1742	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	UNC13C_uc021sms.1_Missense_Mutation_p.S581F	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	581					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCCTGTCATCTTCGGACCGG	0.443000														16			9		0	0	0.058154	0	0
SELENBP1	8991	broad.mit.edu	37	1	151341502	151341502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:151341502G>A	uc010pcy.2	-	3	594	c.464C>T	c.(463-465)cCc>cTc	p.P155L	SELENBP1_uc001exx.3_Missense_Mutation_p.P113L|SELENBP1_uc010pcz.2_Intron|SELENBP1_uc001eya.3_Missense_Mutation_p.P49L	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	113					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGGGGCCCGGGGCTCAGAGCC	0.607000														56			32		0	0	0.080422	0	0
ALPI	248	broad.mit.edu	37	2	233322363	233322363	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:233322363G>A	uc002vst.4	+	5	814	c.737G>A	c.(736-738)aGg>aAg	p.R246K	ALPI_uc002vsu.4_Missense_Mutation_p.R157K	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	246					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AATGGAATCAGGCTGGACGGG	0.617000														33			21		0	0	0.062417	0	0
BPIFB3	359710	broad.mit.edu	37	20	31657760	31657760	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:31657760C>T	uc002wym.1	+	11	1217	c.1217_splice	c.e11+1	p.R406_splice		NM_182658	NP_872599	P59826	LPLC3_HUMAN	Homo sapiens BPI fold containing family B, member 3 (BPIFB3), mRNA.	406					innate immune response	cytoplasm|extracellular region	lipid binding|protein binding										GTCCCTGGAACGGTAACTTGG	0.562000														147			95		0	0	0.139131	0	0
GPR142	350383	broad.mit.edu	37	17	72368513	72368514	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:72368513_72368514GG>AA	uc021ucp.1	+	3	1163_1164	c.1154_1155GG>AA	c.(1153-1155)cgg>cAA	p.R385Q	GPR142_uc010wqy.2_Missense_Mutation_p.R388Q	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	388						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCTGTCCACCGGGACTGGAGGG	0.609000														65			28		0	0	0.115264	0	0
SIM1	6492	broad.mit.edu	37	6	100841664	100841664	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:100841664G>A	uc003pqj.4	-	9	1736	c.1269C>T	c.(1267-1269)gcC>gcT	p.A423A	SIM1_uc021zdg.1_Silent_p.A423A|SIM1_uc010kcu.3_Silent_p.A423A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	423	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CAGGCCTATCGGCGGGGTCCA	0.597000														11			20		0	0	0.062417	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														55			25		0	0	0.144211	0	0
WFDC8	90199	broad.mit.edu	37	20	44207862	44207862	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:44207862C>T	uc002xow.3	-	1	105	c.26_splice	c.e1+1	p.G9_splice	WFDC8_uc002xox.3_Splice_Site_p.G9_splice	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	9						extracellular region	serine-type endopeptidase inhibitor activity	p.G9W(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CCTCCTCACCCTCCTTCAGTT	0.577000														130			71		0	0	0.139131	0	0
KBTBD13	390594	broad.mit.edu	37	15	65369261	65369261	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:65369261C>T	uc010uis.2	+	0	108	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RASL12_uc010uir.1_5'Flank	NM_001101362	NP_001094832	C9JR72	KBTBD_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 13 (KBTBD13), mRNA.	36	BTB.					cytoplasm				lung(1)|prostate(1)|skin(1)	3						GAGGCCTCTTCCGCTCCGGCA	0.721000														4			5		0	0	0.014758	0	0
ROBO2	6092	broad.mit.edu	37	3	77607240	77607240	+	Silent	SNP	G	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:77607240G>T	uc011bgk.2	+	9	2032	c.1389G>T	c.(1387-1389)ccG>ccT	p.P463P	ROBO2_uc021xat.1_Silent_p.P475P|ROBO2_uc003dpy.4_Silent_p.P459P|ROBO2_uc003dpz.3_Silent_p.P463P|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	459	Ig-like C2-type 5.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding	p.P475P(1)|p.P459P(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TTACTTTTCCGGGTAGAGATC	0.418000														74			15		1.5739e-10	1.62508e-10	0.146539	1	0
CMYA5	202333	broad.mit.edu	37	5	79025950	79025950	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:79025950C>T	uc003kgc.3	+	1	1434	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	454						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGACCCAGACCAAGAACAGC	0.512000														64			42		0	0	0.139131	0	0
C8orf34	116328	broad.mit.edu	37	8	69621313	69621313	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:69621313C>T	uc010lyz.3	+	9	1618	c.1327_splice	c.e9+1	p.D443_splice	C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	357					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343000														18			5		0	0	0.029380	0	0
KRT16P2	400578	broad.mit.edu	37	17	16734523	16734523	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:16734523G>A	uc010vwr.1	-	3	938	c.496C>T	c.(496-498)Ctg>Ttg	p.L166L						Homo sapiens keratin 16 pseudogene 2 (KRT16P2), non-coding RNA.																		ATCTCATTCAGGATGCAGCTC	0.607000														55			6		0	0	0.058154	0	0
WNT9A	7483	broad.mit.edu	37	1	228109590	228109590	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:228109590G>C	uc001hri.2	-	3	815	c.727C>G	c.(727-729)Ctg>Gtg	p.L243V		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	243					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TTGTGCTTCAGATGCTTGCCC	0.652000														99			24		0	0	0.125774	0	0
APAF1	317	broad.mit.edu	37	12	99071326	99071326	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:99071326A>T	uc001tfz.3	+	12	2494	c.1917A>T	c.(1915-1917)ttA>ttT	p.L639F	APAF1_uc001tfy.3_Missense_Mutation_p.L628F|APAF1_uc001tga.3_Missense_Mutation_p.L628F|APAF1_uc001tgb.3_Missense_Mutation_p.L639F|APAF1_uc001tgc.3_Intron|APAF1_uc009zto.3_Missense_Mutation_p.L48F	NM_181861	NP_863651	O14727	APAF_HUMAN	Homo sapiens apoptotic peptidase activating factor 1 (APAF1), transcript variant 3, mRNA.	639				L -> F (in Ref. 2; CAB55583).	activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	Golgi apparatus|cytosol|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	ATAAAACCTTACAGGTAAAAC	0.403000														46			9		0	0	0.058154	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426916	111426916	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:111426916C>T	uc003dya.3	+	1	877	c.307C>T	c.(307-309)Cga>Tga	p.R103*	PLCXD2_uc003dxz.3_Nonsense_Mutation_p.R103*	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	103	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCTGACATTTCGAGAACAGCT	0.522000														17			36		0	0	0.098360	0	0
PGK2	5232	broad.mit.edu	37	6	49754324	49754324	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:49754324C>T	uc003ozu.3	-	0	730	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	193					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TAATCTAGTTCCTTCTTCATC	0.458000														20			85		0	0	0.139131	0	0
AFF3	3899	broad.mit.edu	37	2	100623722	100623722	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:100623722G>A	uc002taf.3	-	4	594	c.450C>T	c.(448-450)atC>atT	p.I150I	AFF3_uc002tag.3_Silent_p.I125I|AFF3_uc010fiq.1_Silent_p.I125I|AFF3_uc010yvr.1_Silent_p.I279I|AFF3_uc002tah.1_Silent_p.I150I|AFF3_uc010fir.1_Silent_p.I202I	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	125					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.S149Y(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TAGTGCTACAGATAGACGAGG	0.552000														51			25		0	0	0.099896	0	0
HMMR	3161	broad.mit.edu	37	5	162910053	162910053	+	Silent	SNP	A	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:162910053A>G	uc003lzh.3	+	13	1742	c.1560A>G	c.(1558-1560)tcA>tcG	p.S520S	HMMR_uc003lzf.3_Silent_p.S519S|HMMR_uc003lzg.3_Silent_p.S504S|HMMR_uc011dem.2_Silent_p.S433S|BC035392_uc003lzi.3_Non-coding_Transcript	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	519						cell surface|cytoplasm	hyaluronic acid binding	p.S519*(1)		cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AGACCAAGTCAGCACTAAAGG	0.333000														43			29		0	0	0.064281	0	0
MCPH1	79648	broad.mit.edu	37	8	6302915	6302915	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:6302915C>T	uc003wqi.3	+	7	1748	c.1672C>T	c.(1672-1674)Ctg>Ttg	p.L558L	MCPH1_uc003wqh.3_Silent_p.L558L|MCPH1_uc011kwl.2_Silent_p.L510L	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	558						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AGCGGTTGGTCTGAAAAGCAC	0.418000														10			16		0	0	0.038395	0	0
CHI3L1	1116	broad.mit.edu	37	1	203148906	203148906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:203148906C>T	uc001gzi.2	-	8	1165	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	CHI3L1_uc001gzk.1_Missense_Mutation_p.E68K|CHI3L1_uc001gzj.2_Missense_Mutation_p.E271K|CHI3L1_uc001gzl.3_5'Flank	NM_001276	NP_001267	P36222	CH3L1_HUMAN	Homo sapiens chitinase 3-like 1 (cartilage glycoprotein-39) (CHI3L1), mRNA.	332					chitin catabolic process	extracellular space|proteinaceous extracellular matrix	cation binding|chitinase activity|extracellular matrix structural constituent|sugar binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|skin(1)	18						TTGACGCTTTCCTGGTCGTCG	0.582000														71			47		0	0	0.139131	0	0
MYO1B	4430	broad.mit.edu	37	2	192252018	192252018	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:192252018C>T	uc010fsg.2	+	16	1878	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	MYO1B_uc002usq.2_Silent_p.A541A|MYO1B_uc002usr.2_Silent_p.A541A|MYO1B_uc002ust.1_Silent_p.A179A	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	541	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TGTCCCAAGCCATGTGGAAGG	0.507000														57			26		0	0	0.116897	0	0
ZFHX3	463	broad.mit.edu	37	16	72828383	72828383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:72828383C>T	uc002fck.3	-	8	8871	c.8198G>A	c.(8197-8199)cGt>cAt	p.R2733H	ZFHX3_uc002fcl.3_Missense_Mutation_p.R1819H	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	2733					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGCCAGTGACGGGACCGGAT	0.542000														50			7		0	0	0.058154	0	0
TNR	7143	broad.mit.edu	37	1	175375841	175375841	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:175375841C>T	uc001gkp.1	-	0	91	c.10G>A	c.(10-12)Gat>Aat	p.D4N	TNR_uc009wwu.1_Missense_Mutation_p.D4N|TNR_uc010pmz.1_Missense_Mutation_p.D4N	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	4					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTTCCCCATCTGCCCCCATC	0.532000														70			46		0	0	0.139131	0	0
PIGM	93183	broad.mit.edu	37	1	160000335	160000335	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:160000335T>G	uc001fuv.1	-	0	1449	c.1195A>C	c.(1195-1197)Atc>Ctc	p.I399L		NM_145167	NP_660150	Q9H3S5	PIGM_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class M (PIGM), mRNA.	399					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAACAATTGATAAGAAGAAAG	0.403000														68			13		0	0	0.146539	0	0
THSD7B	80731	broad.mit.edu	37	2	138033548	138033548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:138033548G>A	uc002tva.1	+	10	2359	c.2359G>A	c.(2359-2361)Gga>Aga	p.G787R	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G677R	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCTGGCAGGGAATAACGGG	0.398000														15			12		0	0	0.146539	0	0
ST14	6768	broad.mit.edu	37	11	130059763	130059763	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:130059763C>T	uc001qfw.3	+	4	763	c.570C>T	c.(568-570)tcC>tcT	p.S190S	ST14_uc010sca.1_5'Flank	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	190					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCCTGAAGTCCTTTGTGGTCA	0.682000														32			42		0	0	0.139131	0	0
SPP1	6696	broad.mit.edu	37	4	88902885	88902885	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:88902885C>T	uc003hra.3	+	5	640	c.475C>T	c.(475-477)Cga>Tga	p.R159*	SPP1_uc011cde.2_Nonsense_Mutation_p.R172*|SPP1_uc003hrb.3_Nonsense_Mutation_p.R132*|SPP1_uc003hrc.3_Nonsense_Mutation_p.R145*|SPP1_uc003hrd.3_Nonsense_Mutation_p.R118*	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	159					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		ATATGATGGCCGAGGTGATAG	0.458000														52			37		0	0	0.111260	0	0
EGFLAM	133584	broad.mit.edu	37	5	38370440	38370440	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:38370440C>T	uc003jlc.2	+	5	934	c.588C>T	c.(586-588)atC>atT	p.I196I	EGFLAM_uc003jlb.2_Silent_p.I196I	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	196	Fibronectin type-III 2.					cell junction|proteinaceous extracellular matrix|synapse		p.R195W(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATGAGCGGATCCAGATGGACT	0.502000														33			17		0	0	0.049695	0	0
GRID1	2894	broad.mit.edu	37	10	87487651	87487651	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:87487651G>A	uc001kdl.1	-	9	1595	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N	GRID1_uc009xsu.1_Non-coding_Transcript|GRID1_uc010qmf.1_Silent_p.N69N	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	498						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TCCAGGAGGTGTTATGGAGCT	0.547000										Multiple Myeloma(13;0.14)				17			31		0	0	0.059317	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846473	28846473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:28846473C>T	uc002dqy.3	+	18	2695	c.2528C>T	c.(2527-2529)cCt>cTt	p.P843L	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.P843L|ATXN2L_uc002dra.3_Missense_Mutation_p.P843L|ATXN2L_uc002drb.3_Missense_Mutation_p.P843L|ATXN2L_uc002drc.3_Missense_Mutation_p.P843L|ATXN2L_uc010vdb.2_Missense_Mutation_p.P849L|ATXN2L_uc002dre.3_Missense_Mutation_p.P843L|ATXN2L_uc002drf.3_Missense_Mutation_p.P252L|ATXN2L_uc002drg.3_Missense_Mutation_p.P125L	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	843						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCTCAGTACCCTTCTGCAGAG	0.642000														139			81		0	0	0.139131	0	0
XIRP2	129446	broad.mit.edu	37	2	168103356	168103356	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:168103356G>A	uc002udx.3	+	8	5543	c.5454G>A	c.(5452-5454)aaG>aaA	p.K1818K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.K1643K|XIRP2_uc010fpq.3_Silent_p.K1596K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1643					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACACAGTTAAGGTTTTTATGA	0.408000														44			26		0	0	0.099896	0	0
ABI3	51225	broad.mit.edu	37	17	47294030	47294030	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:47294030G>A	uc002iop.1	+	1	753	c.255G>A	c.(253-255)caG>caA	p.Q85Q	ABI3_uc002ioq.1_Silent_p.Q85Q	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	85					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCTGCGGCAGGTGGAAGCCC	0.652000										HNSCC(55;0.14)				13			7		0	0	0.058154	0	0
GPR50	9248	broad.mit.edu	37	X	150349430	150349430	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:150349430C>T	uc010ntg.2	+	1	1513	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	459	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGACTCTGTCCATTTCAAGCC	0.547000														72			242		0	0	0.139131	0	0
GLI1	2735	broad.mit.edu	37	12	57865815	57865815	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:57865815G>C	uc001snx.3	+	11	3386	c.3292G>C	c.(3292-3294)Gaa>Caa	p.E1098Q	GLI1_uc021qzi.1_Missense_Mutation_p.E1057Q|GLI1_uc009zpq.3_Missense_Mutation_p.E970Q	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	1098					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CCTACCTGGGGAAACAGAATT	0.522000														38			24		0	0	0.091800	0	0
EPHB2	2048	broad.mit.edu	37	1	23232557	23232557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:23232557G>A	uc009vqj.1	+	9	1988	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	EPHB2_uc001bge.3_Missense_Mutation_p.E616K|EPHB2_uc001bgf.3_Missense_Mutation_p.E615K|EPHB2_uc010odu.2_Missense_Mutation_p.E557K	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	615					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	p.E615K(4)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTGCCAAGGAAATTGACAT	0.537000														40			37		0	0	0.104719	0	0
RB1CC1	9821	broad.mit.edu	37	8	53580634	53580634	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:53580634G>A	uc003xre.4	-	7	1678	c.1120C>T	c.(1120-1122)Cag>Tag	p.Q374*	RB1CC1_uc003xrf.4_Nonsense_Mutation_p.Q374*	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	374					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCAATCATCTGGTCCAGGGCG	0.403000														21			29		0	0	0.045705	0	0
OR6S1	341799	broad.mit.edu	37	14	21109263	21109263	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:21109263C>T	uc001vxv.1	-	0	588	c.588G>A	c.(586-588)aaG>aaA	p.K196K		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCTCCAGCTTCTTGGTGTTGG	0.562000														33			23		0	0	0.083992	0	0
GLI2	2736	broad.mit.edu	37	2	121747944	121747944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:121747944C>T	uc010flp.3	+	12	4484	c.4454C>T	c.(4453-4455)cCc>cTc	p.P1485L	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.P1157L|GLI2_uc002tmu.4_Missense_Mutation_p.P1140L	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1485					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCATCCAGCCCCAGCCCTTG	0.622000														60			26		0	0	0.099896	0	0
MDM4	4194	broad.mit.edu	37	1	204513760	204513760	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:204513760C>T	uc001hba.3	+	8	936	c.770C>T	c.(769-771)gCt>gTt	p.A257V	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Intron|MDM4_uc010pqx.2_Missense_Mutation_p.A130V|MDM4_uc001hay.2_Intron|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.A130V|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	257	Asp/Glu-rich (acidic).|Region II.				G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AAAGTTGAAGCTGCTGATACT	0.378000			A		"""GBM, bladder, retinoblastoma"""									25			16		0	0	0.043863	0	0
TP53BP2	7159	broad.mit.edu	37	1	223987607	223987607	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:223987607A>C	uc001hod.3	-	11	1903	c.1092T>G	c.(1090-1092)gaT>gaG	p.D364E	TP53BP2_uc010pvb.2_Missense_Mutation_p.D493E|TP53BP2_uc010puz.2_5'UTR|TP53BP2_uc010pva.2_Missense_Mutation_p.D132E	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	487					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTACCTGAGCATCCCGCAAGA	0.413000														29			22		0	0	0.099896	0	0
CFH	3075	broad.mit.edu	37	1	196883755	196883755	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:196883755C>T	uc001gtp.3	+	7	1448	c.1311C>T	c.(1309-1311)tcC>tcT	p.S437S	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.S436S|CFH_uc001gto.3_Silent_p.S190S	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	782	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCACAGGTTCCATAGTGTGTG	0.373000														40			25		0	0	0.116897	0	0
MSRA	4482	broad.mit.edu	37	8	10159055	10159055	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:10159055C>T	uc003wsx.3	+	3	540	c.343C>T	c.(343-345)Cat>Tat	p.H115Y	MSRA_uc011kwx.2_Missense_Mutation_p.H75Y|MSRA_uc011kwy.1_Missense_Mutation_p.H72Y|MSRA_uc003wsy.3_Missense_Mutation_p.H49Y|MSRA_uc003wsz.3_Missense_Mutation_p.H72Y	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	115					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	AAAAACTGGCCATGCAGAAGT	0.413000														15			24		0	0	0.099896	0	0
ZFYVE28	57732	broad.mit.edu	37	4	2355696	2355696	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:2355696C>T	uc003gex.2	-	1	464	c.144G>A	c.(142-144)cgG>cgA	p.R48R	ZFYVE28_uc011bvk.2_5'UTR|ZFYVE28_uc011bvl.2_Silent_p.R48R|ZFYVE28_uc003gey.4_5'UTR|ZFYVE28_uc003gez.3_Intron|ZFYVE28_uc021xkq.1_Silent_p.R48R	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	48					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GCAGCGTGCACCGCTGGGGGT	0.677000														10			7		0	0	0.047766	0	0
BDP1	55814	broad.mit.edu	37	5	70805733	70805733	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:70805733C>T	uc003kbp.1	+	16	3077	c.2814C>T	c.(2812-2814)tcC>tcT	p.S938S	BDP1_uc003kbn.1_Silent_p.S938S|BDP1_uc003kbo.3_Silent_p.S938S	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	938	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	p.S938F(1)		NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGAAATATCCCCACAGAAAA	0.463000														51			29		0	0	0.144211	0	0
POTEF	728378	broad.mit.edu	37	2	130877866	130877866	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:130877866T>C	uc010fmh.2	-	2	623	c.223A>G	c.(223-225)Agt>Ggt	p.S75G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	75						cell cortex	ATP binding	p.G74E(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCTTGCCACTCCCCCTGCAG	0.592000														192			5		0	0	0.014758	0	0
KLHL1	57626	broad.mit.edu	37	13	70413256	70413256	+	Silent	SNP	A	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:70413256A>G	uc001vip.3	-	5	2060	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	KLHL1_uc010thm.2_Silent_p.N361N	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	422					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATTCCAGATCATTCTTAAATA	0.323000														110			62		0	0	0.139131	0	0
COL4A2	1284	broad.mit.edu	37	13	111137329	111137329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:111137329G>A	uc001vqx.3	+	32	3269	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	994	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGAGAGAAAGGAGATGAAGG	0.612000														16			13		0	0	0.093190	0	0
ACTRT2	140625	broad.mit.edu	37	1	2938503	2938503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:2938503G>A	uc001ajz.3	+	0	458	c.253G>A	c.(253-255)Gac>Aac	p.D85N		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	85						cytoplasm|cytoskeleton		p.D85E(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		AGGGTGGGATGACGTGGAGAG	0.612000														57			21		0	0	0.062417	0	0
FLG2	388698	broad.mit.edu	37	1	152328282	152328282	+	Silent	SNP	T	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:152328282T>C	uc001ezw.4	-	2	2053	c.1980A>G	c.(1978-1980)tcA>tcG	p.S660S	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	660	Ser-rich.						calcium ion binding|structural molecule activity	p.G659E(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGAGCCTGATCCATATT	0.488000														363			6		0	0	0.038147	0	0
KIAA1383	54627	broad.mit.edu	37	1	232941651	232941651	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:232941651C>T	uc001hvh.2	+	0	1014	c.882C>T	c.(880-882)tcC>tcT	p.S294S		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	152										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				CGGCCGCCTCCGGATGCTCCC	0.706000														8			4		0	0	0.009096	0	0
CHRNA6	8973	broad.mit.edu	37	8	42611246	42611246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:42611246C>T	uc003xpj.3	-	4	1452	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	CHRNA6_uc011lcw.2_Missense_Mutation_p.G351S	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	366						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCATCAGAGCCTGTGCCCCTT	0.567000														21			27		0	0	0.108266	0	0
CATSPERG	57828	broad.mit.edu	37	19	38857942	38857942	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:38857942C>T	uc002oih.4	+	22	2847	c.2760C>T	c.(2758-2760)ctC>ctT	p.L920L	CATSPERG_uc002oig.4_Silent_p.L880L|CATSPERG_uc002oif.4_Silent_p.L560L|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	920					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CCTGCTTTCTCTTCCGGGACA	0.572000														26			14		0	0	0.132662	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					41			42		0	0	0.124865	0	0
MRC2	9902	broad.mit.edu	37	17	60768025	60768025	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:60768025C>G	uc002jad.3	+	26	4317	c.3915C>G	c.(3913-3915)atC>atG	p.I1305M	MRC2_uc002jae.3_Missense_Mutation_p.I376M|MRC2_uc002jaf.3_Missense_Mutation_p.I171M	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	1305	C-type lectin 8.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TCCTGTCTATCCTGGATGAGA	0.637000														95			3		0	0	0.009096	0	0
GLI2	2736	broad.mit.edu	37	2	121742146	121742146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:121742146G>A	uc010flp.3	+	10	1813	c.1783G>A	c.(1783-1785)Gtc>Atc	p.V595I	GLI2_uc002tmq.1_Missense_Mutation_p.V267I|GLI2_uc002tmr.1_Missense_Mutation_p.V250I|GLI2_uc002tmt.4_Missense_Mutation_p.V267I|GLI2_uc002tmu.4_Missense_Mutation_p.V250I|GLI2_uc002tmw.1_Missense_Mutation_p.V578I	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	595					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V595I(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGATGCCCACGTCACCAAGAA	0.607000														56			15		0	0	0.146539	0	0
SHB	6461	broad.mit.edu	37	9	37955978	37955978	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:37955978G>A	uc004aax.3	-	3	1696	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	376	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCCCTCCAGGGGCACGAAGCT	0.602000														0			3		0	0	0.115264	0	0
MMP27	64066	broad.mit.edu	37	11	102562686	102562686	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:102562686C>T	uc001phd.1	-	9	1376	c.1353G>A	c.(1351-1353)aaG>aaA	p.K451K		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	451	Hemopexin-like 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.K451N(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		GGGTAATATTCTTTGTCTTAA	0.338000														11			16		0	0	0.033300	0	0
MED12L	116931	broad.mit.edu	37	3	151105887	151105887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:151105887G>A	uc003eyp.3	+	34	5402	c.5273G>A	c.(5272-5274)gGa>gAa	p.G1758E	MED12L_uc011bnz.2_Missense_Mutation_p.G1618E|MED12L_uc003eyy.1_Missense_Mutation_p.G921E	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1758					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCAGATCAGGGAAAAACCACA	0.493000														5			15		0	0	0.146539	0	0
MYH2	4620	broad.mit.edu	37	17	10426843	10426843	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:10426843C>T	uc010coi.3	-	36	5570	c.5442G>A	c.(5440-5442)ggG>ggA	p.G1814G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.G1814G|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1814					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTGCTTCTTCCCACCCTTCA	0.542000														71			45		0	0	0.139131	0	0
OR52D1	390066	broad.mit.edu	37	11	5510001	5510001	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:5510001G>A	uc010qzg.2	+	0	87	c.65G>A	c.(64-66)gGg>gAg	p.G22E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATCCCAGGGCTGGAGGCT	0.493000														24			61		0	0	0.139131	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110503293	110503293	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:110503293C>A	uc003yne.3	+	60	10181	c.10077C>A	c.(10075-10077)gaC>gaA	p.D3359E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3359					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D3358H(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGGATTGGACATAGATGACA	0.378000										HNSCC(38;0.096)				111			19		1.10513e-12	1.14573e-12	0.069288	1	0
CLPTM1L	81037	broad.mit.edu	37	5	1341922	1341922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:1341922G>A	uc003jch.3	-	2	363	c.317C>T	c.(316-318)gCc>gTc	p.A106V	CLPTM1L_uc003jcg.3_5'UTR	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	106					apoptosis	integral to membrane		p.Y105H(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		GAAGATGTAGGCATACAGCGT	0.488000														29			16		0	0	0.043863	0	0
KCNH4	23415	broad.mit.edu	37	17	40315654	40315654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:40315654C>T	uc002hzb.2	-	12	2780	c.2447G>A	c.(2446-2448)gGa>gAa	p.G816E		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	816					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCCAAAGGTTCCCAGTGGGGG	0.652000														9			13		0	0	0.132662	0	0
RERGL	79785	broad.mit.edu	37	12	18234224	18234224	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:18234224C>T	uc001rdq.3	-	5	713	c.519G>A	c.(517-519)ctG>ctA	p.L173L		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	173	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.I172T(1)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TGAAGTTTATCAGGATGTCCT	0.398000														31			10		0	0	0.058154	0	0
SALL4	57167	broad.mit.edu	37	20	50401095	50401095	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:50401095G>A	uc002xwh.4	-	3	2972	c.2871C>T	c.(2869-2871)atC>atT	p.I957I	SALL4_uc010gii.3_Silent_p.I520I|SALL4_uc002xwi.4_Silent_p.I180I	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	957					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGGGCCAGGATTTCCTTGG	0.522000														66			45		0	0	0.139131	0	0
H3F3B	3021	broad.mit.edu	37	17	73774768	73774768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:73774768C>T	uc002jpl.3	-	3	452	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	107					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGGTTGGTATCTTCGAACAGA	0.582000														119			5		0	0	0.014758	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625713	140625713	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:140625713G>A	uc003lje.3	+	0	567	c.567G>A	c.(565-567)agG>agA	p.R189R		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	189	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGATGGCAGGAAATACCCAG	0.537000														27			23		0	0	0.083992	0	0
SPAG16	79582	broad.mit.edu	37	2	214794769	214794769	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:214794769G>A	uc002veq.3	+	11	1392	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R	SPAG16_uc010fuz.2_Missense_Mutation_p.G285R|SPAG16_uc002ver.3_Missense_Mutation_p.G380R|SPAG16_uc010zjk.2_Missense_Mutation_p.G340R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	434					cilium assembly	cilium axoneme|flagellar axoneme		p.E433V(1)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GACCTTTGAAGGACACAGCCG	0.438000														65			27		0	0	0.125774	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140216017	140216017	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:140216017G>A	uc003lhq.2	+	0	2049	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.S683S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	692	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGGCATCGTTGGGCATTG	0.632000														104			55		0	0	0.139131	0	0
SLC5A4	6527	broad.mit.edu	37	22	32650130	32650130	+	Splice_Site	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr22:32650130G>C	uc003ami.3	-	2	209	c.207_splice	c.e2+1	p.P69_splice		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	69					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCACTTACCGGCCACCAGGC	0.522000														51			24		0	0	0.134883	0	0
GGA2	23062	broad.mit.edu	37	16	23497447	23497448	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:23497447_23497448GG>AA	uc002dlq.3	-	7	769_770	c.686_687CC>TT	c.(685-687)tcc>tTT	p.S229F	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	229	GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		TGACCCTCTTGGACACCTTCTC	0.574000														60			36		0	0	0.115264	0	0
ALB	213	broad.mit.edu	37	4	74274517	74274517	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:74274517G>A	uc003hgs.4	+	3	550	c.477G>A	c.(475-477)ttG>ttA	p.L159L	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Silent_p.L49L	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	159	Albumin 1.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AGACATTTTTGAAAAAGTAAG	0.353000														19			7		0	0	0.058154	0	0
FAM83E	54854	broad.mit.edu	37	19	49106808	49106808	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:49106808G>A	uc002pjn.2	-	3	1184	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	373										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GGTCCCACATGGAGCGGCTgg	0.687000														21			12		0	0	0.132662	0	0
CSMD1	64478	broad.mit.edu	37	8	3216851	3216851	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:3216851C>T	uc022aqr.1	-	20	3517	c.3127G>A	c.(3127-3129)Gag>Aag	p.E1043K	CSMD1_uc011kwj.2_Missense_Mutation_p.E436K|CSMD1_uc003wqe.3_Missense_Mutation_p.E200K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1044						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCACATGGCTCCAGGTCATAT	0.428000														7			20		0	0	0.069288	0	0
NFATC3	4775	broad.mit.edu	37	16	68156976	68156976	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:68156976C>T	uc002evo.2	+	1	1506	c.1190C>T	c.(1189-1191)tCa>tTa	p.S397L	NFATC3_uc010vkl.2_5'UTR|NFATC3_uc010vkm.2_5'UTR|NFATC3_uc010vkn.2_5'UTR|NFATC3_uc010vko.2_5'UTR|NFATC3_uc010vkp.2_5'UTR|NFATC3_uc010vkq.2_5'UTR|NFATC3_uc002evl.3_Intron|NFATC3_uc002evk.3_Missense_Mutation_p.S397L|NFATC3_uc002evm.2_Missense_Mutation_p.S397L|NFATC3_uc002evn.2_Missense_Mutation_p.S397L|NFATC3_uc010vkr.2_5'UTR|NFATC3_uc010vks.2_5'UTR|NFATC3_uc010vkt.2_5'UTR|NFATC3_uc010vku.2_5'UTR|NFATC3_uc010vkv.2_5'UTR|NFATC3_uc010vkw.2_5'UTR|NFATC3_uc010vkx.2_5'UTR|NFATC3_uc010vky.2_5'UTR|NFATC3_uc010vkz.2_5'UTR|NFATC3_uc010vla.2_5'UTR|NFATC3_uc010vlb.2_5'UTR|NFATC3_uc010vlc.2_5'UTR	NM_173165	NP_775188	Q12968	NFAC3_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 (NFATC3), transcript variant 1, mRNA.	397					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCAGTTCCTTCACCCTTTACC	0.443000														64			36		0	0	0.086207	0	0
CSAG1	158511	broad.mit.edu	37	X	151909159	151909159	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:151909159G>A	uc004fge.3	+	4	516	c.188G>A	c.(187-189)aGg>aAg	p.R63K	CSAG1_uc004fgf.3_Missense_Mutation_p.R63K|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	63								p.R63M(2)		central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CAACCCAAAAGGGAAAAGGGA	0.522000														12			35		0	0	0.086207	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478215	14478215	+	RNA	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr18:14478215C>T	uc010xai.2	-	2		c.1349G>A								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		TCACAGGAATCACGCCCATTC	0.468000														3			20		0	0	0.099896	0	0
SIX4	51804	broad.mit.edu	37	14	61180600	61180600	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:61180600G>A	uc001xfc.3	-	2	1931	c.1871C>T	c.(1870-1872)cCc>cTc	p.P624L		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	624						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TAGTGTAGAGGGACTGAGAGA	0.478000														27			5		0	0	0.021553	0	0
OR8A1	390275	broad.mit.edu	37	11	124440363	124440363	+	Silent	SNP	A	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:124440363A>C	uc010san.2	+	0	399	c.399A>C	c.(397-399)acA>acC	p.T133T		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	133			T -> R (in dbSNP:rs55861866).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		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;0.0214)		ACATGCTGACAGTGATGGCCT	0.478000														42			11		0	0	0.069234	0	0
MYH6	4624	broad.mit.edu	37	14	23867965	23867965	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:23867965G>A	uc001wjv.3	-	14	1934	c.1863C>T	c.(1861-1863)ctC>ctT	p.L621L		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	621	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGGAGGAGAAGAGAGTGGCCA	0.557000														74			13		0	0	0.119110	0	0
ILDR1	286676	broad.mit.edu	37	3	121712385	121712385	+	Missense_Mutation	SNP	C	T	T	rs150479416	by1000genomes	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:121712385C>T	uc003ees.3	-	6	1414	c.1211G>A	c.(1210-1212)cGt>cAt	p.R404H	ILDR1_uc003eeq.3_Missense_Mutation_p.R372H|ILDR1_uc003eer.3_Missense_Mutation_p.R360H|ILDR1_uc010hrg.3_Missense_Mutation_p.R315H	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	404						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTAGAGCTACGGTGCCTTCC	0.597000														10			36		0	0	0.124865	0	0
CEP135	9662	broad.mit.edu	37	4	56876019	56876019	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:56876019G>A	uc003hbi.3	+	18	2689	c.2455G>A	c.(2455-2457)Gaa>Aaa	p.E819K	CEP135_uc003hbj.3_Missense_Mutation_p.E525K	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	819					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CGCTTTTAAGGAAAACAGAAG	0.403000														34			18		0	0	0.091800	0	0
SLURP1	57152	broad.mit.edu	37	8	143822586	143822586	+	Missense_Mutation	SNP	C	T	T	rs139944345		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:143822586C>T	uc003ywy.3	-	2	313	c.287G>A	c.(286-288)cGa>cAa	p.R96Q		NM_020427	NP_065160	P55000	SLUR1_HUMAN	Homo sapiens secreted LY6/PLAUR domain containing 1 (SLURP1), mRNA.	96					cell activation|cell adhesion	extracellular space	cytokine activity			breast(1)|lung(7)|ovary(1)	9	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCAGAGGTCTCGGAAGCAGCA	0.662000														31			35		0	0	0.124865	0	0
ADCY5	111	broad.mit.edu	37	3	123023025	123023025	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:123023025G>A	uc003egh.2	-	12	2448	c.2448C>T	c.(2446-2448)ttC>ttT	p.F816F	ADCY5_uc021xdd.1_Silent_p.F466F|ADCY5_uc003egg.2_Silent_p.F449F|ADCY5_uc003egi.1_Silent_p.F375F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	816					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTGgggaggggaagagctagg	0.612000														12			30		0	0	0.050027	0	0
LRP4	4038	broad.mit.edu	37	11	46895101	46895101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:46895101G>A	uc001ndn.4	-	28	4516	c.4273C>T	c.(4273-4275)Cga>Tga	p.R1425*	LOC100507401_uc001ndl.3_Non-coding_Transcript	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1425					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTCAGCCCTCGCCCGATCACT	0.582000														37			87		0	0	0.139131	0	0
ENTPD3	956	broad.mit.edu	37	3	40442420	40442420	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:40442420C>T	uc003ckd.4	+	3	296	c.204C>T	c.(202-204)acC>acT	p.T68T	ENTPD3_uc010hhy.3_Silent_p.T68T|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	68						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CTTCAAGAACCACAGTCTACG	0.463000														27			106		0	0	0.139131	0	0
OBSCN	84033	broad.mit.edu	37	1	228482117	228482117	+	Splice_Site	SNP	G	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:228482117G>T	uc009xez.1	+	42	11439	c.11395_splice	c.e42+1	p.A3799_splice	OBSCN_uc001hsn.3_Splice_Site_p.A3799_splice|OBSCN_uc001hsq.1_Splice_Site_p.A1055_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3799					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGTCAGGGGTAAAGATCGT	0.577000														89			47		4.0181e-32	4.25249e-32	0.139131	1	0
SEMG2	6407	broad.mit.edu	37	20	43851398	43851398	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:43851398G>A	uc010ggz.3	+	1	1182	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S	SEMG2_uc002xnk.3_Silent_p.S375S|SEMG2_uc002xnl.3_Silent_p.S375S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	375	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GCAGTATTTCGATCCAAACTG	0.373000														67			45		0	0	0.139131	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454474	114454474	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:114454474G>A	uc001eeg.3	+	3	1554	c.1260G>A	c.(1258-1260)aaG>aaA	p.K420K	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Silent_p.K294K	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	420					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCTCAAAAGAGGGTGACTA	0.458000								Other identified genes with known or suspected DNA repair function						131			37		0	0	0.124865	0	0
GLUL	2752	broad.mit.edu	37	1	182356327	182356327	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:182356327G>T	uc001gpa.2	-	2	510	c.267C>A	c.(265-267)ttC>ttA	p.F89L	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.F89L|GLUL_uc001gpc.2_Missense_Mutation_p.F89L|GLUL_uc001gpd.2_Missense_Mutation_p.F89L	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	89					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	Golgi apparatus|cytosol|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	GGTCCTTACGGAAGGGGTCCC	0.483000														53			38		7.53189e-24	7.93818e-24	0.098360	1	0
BAI1	575	broad.mit.edu	37	8	143570401	143570401	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:143570401G>A	uc003ywm.3	+	13	2641	c.2458G>A	c.(2458-2460)Gat>Aat	p.D820N		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	820					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.D820N(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCAGAGGCCGATGAAGCATC	0.662000														21			10		0	0	0.080935	0	0
WNT10A	80326	broad.mit.edu	37	2	219747084	219747084	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:219747084G>A	uc002vjd.1	+	1	778	c.315G>A	c.(313-315)tgG>tgA	p.W105*		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	105					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCAGCGCTGGAACTGCTCAA	0.597000														51			21		0	0	0.055883	0	0
NLRP8	126205	broad.mit.edu	37	19	56466570	56466570	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:56466570C>T	uc002qmh.3	+	2	1217	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	NLRP8_uc010etg.3_Silent_p.F382F	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	382	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCTTGAGTTTCGCCATGGAAA	0.473000														59			28		0	0	0.134883	0	0
DYSF	8291	broad.mit.edu	37	2	71791234	71791234	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:71791234A>G	uc010fen.3	+	23	2597	c.2456A>G	c.(2455-2457)gAc>gGc	p.D819G	DYSF_uc010fei.3_Missense_Mutation_p.D818G|DYSF_uc010feh.3_Missense_Mutation_p.D787G|DYSF_uc002sig.4_Missense_Mutation_p.D787G|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D832G|DYSF_uc010fee.3_Missense_Mutation_p.D801G|DYSF_uc010fef.3_Missense_Mutation_p.D818G|DYSF_uc002sie.3_Missense_Mutation_p.D801G|DYSF_uc010feo.3_Missense_Mutation_p.D833G|DYSF_uc010fej.3_Missense_Mutation_p.D788G|DYSF_uc010fel.3_Missense_Mutation_p.D788G|DYSF_uc010fem.3_Missense_Mutation_p.D802G|DYSF_uc002sif.3_Missense_Mutation_p.D802G|DYSF_uc010fek.3_Missense_Mutation_p.D819G	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	801			R -> Q.			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.R818R(1)		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						CTGCAGGGAGACAAGCGTGTG	0.627000														56			32		0	0	0.086207	0	0
HRNR	388697	broad.mit.edu	37	1	152191067	152191067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:152191067C>T	uc001ezt.1	-	2	3114	c.3038G>A	c.(3037-3039)cGa>cAa	p.R1013Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1013					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCCACGGCT	0.607000														125			90		0	0	0.139131	0	0
WDR66	144406	broad.mit.edu	37	12	122437829	122437829	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:122437829C>T	uc009zxk.3	+	19	3373	c.3214C>T	c.(3214-3216)Ctg>Ttg	p.L1072L		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1072							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AGAGGACTTCCTGAGACTGCT	0.502000														25			14		0	0	0.038395	0	0
ZAN	7455	broad.mit.edu	37	7	100350192	100350192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:100350192C>T	uc003uwj.3	+	13	2629	c.2464C>T	c.(2464-2466)Ccc>Tcc	p.P822S	ZAN_uc003uwk.3_Missense_Mutation_p.P822S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	822	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CATGGAAAAACCCACTCTCCC	0.512000														37			31		0	0	0.045705	0	0
GPR65	8477	broad.mit.edu	37	14	88477728	88477728	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:88477728G>A	uc021rxh.1	+	0	537	c.537G>A	c.(535-537)tgG>tgA	p.W179*	GPR65_uc001xvv.3_Nonsense_Mutation_p.W179*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	179					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TAGAGAAATGGCAAATCAACC	0.423000														48			36		0	0	0.124865	0	0
DNHD1	144132	broad.mit.edu	37	11	6588882	6588882	+	Missense_Mutation	SNP	G	A	A	rs2288284		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:6588882G>A	uc001mdw.4	+	35	12707	c.12143G>A	c.(12142-12144)cGa>cAa	p.R4048Q	DNHD1_uc001mea.4_Missense_Mutation_p.R317Q|DNHD1_uc001meb.3_Missense_Mutation_p.R316Q|DNHD1_uc001mec.3_Missense_Mutation_p.R316Q|DNHD1_uc010rao.2_Missense_Mutation_p.R306Q|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4048					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGCGTTCTGCGACCTGAGTGC	0.607000														10			35		0	0	0.054565	0	0
TUBB7P	56604	broad.mit.edu	37	4	190905452	190905453	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:190905452_190905453CC>TT	uc011clg.2	-	2	236_237	c.18_19GG>AA	c.(16-21)tcgggg>tcAAgg	p.G7R				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	79					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										CCGAAGGGCCCCGAGCGCACAG	0.673000														66			56		0	0	0.115264	0	0
DTNBP1	84062	broad.mit.edu	37	6	15533577	15533577	+	Silent	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:15533577G>C	uc003nbm.3	-	7	750	c.561C>G	c.(559-561)acC>acG	p.T187T	DTNBP1_uc003nbl.3_Silent_p.T106T|DTNBP1_uc010jph.3_Silent_p.T174T|DTNBP1_uc003nbp.3_Silent_p.T187T	NM_032122	NP_115498	Q96EV8	DTBP1_HUMAN	Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA.	187	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TCATTTGCTGGGTGTGCTCCA	0.522000									Hermansky-Pudlak syndrome					200			23		0	0	0.091800	0	0
SLC2A6	11182	broad.mit.edu	37	9	136339154	136339154	+	Silent	SNP	G	A	A	rs139166314	byFrequency	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:136339154G>A	uc004cee.3	-	6	1079	c.984C>T	c.(982-984)atC>atT	p.I328I	SLC2A6_uc004cef.3_Silent_p.I328I|SLC2A6_uc004ceg.3_Silent_p.I305I	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	328						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		TGAGGGCGGCGATCAGCACGG	0.682000														11			10		0	0	0.080935	0	0
TEP1	7011	broad.mit.edu	37	14	20848535	20848535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:20848535G>A	uc001vxe.3	-	33	4902	c.4862C>T	c.(4861-4863)cCc>cTc	p.P1621L	TEP1_uc010ahk.3_Missense_Mutation_p.P964L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.P1513L|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1621					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGGAGCCGGGGGTACTGGCT	0.607000														68			19		0	0	0.049695	0	0
CAPN1	823	broad.mit.edu	37	11	64974144	64974144	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:64974144G>A	uc009yqd.2	+	13	1762	c.1565_splice	c.e13+1	p.V522_splice	CAPN1_uc001odf.2_Splice_Site_p.V522_splice|CAPN1_uc001odg.2_Splice_Site_p.V522_splice|CAPN1_uc010roa.2_Splice_Site_p.V263_splice	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	522	Domain III.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TGCTGGGACTGTGTGAGTCAT	0.637000														26			5		0	0	0.021553	0	0
NPTN	27020	broad.mit.edu	37	15	73889472	73889472	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:73889472G>A	uc002avs.3	-	1	527	c.330C>T	c.(328-330)gaC>gaT	p.D110D	NPTN_uc010bjc.3_Silent_p.D110D|NPTN_uc002avt.3_Intron|NPTN_uc002avr.3_Intron|NPTN_uc010ula.2_Intron	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	110	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTCCCAGAGTCCTCCAAGG	0.587000														81			9		0	0	0.047766	0	0
SKOR2	652991	broad.mit.edu	37	18	44775145	44775145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr18:44775145G>A	uc010dnt.2	-	0	410	c.410C>T	c.(409-411)cCc>cTc	p.P137L				Q2VWA4	SKOR2_HUMAN	RecName: Full=SKI family transcriptional corepressor 2; AltName: Full=Functional Smad-suppressing element on chromosome 18;          Short=Fussel-18; AltName: Full=LBX1 corepressor 1-like protein; AltName: Full=Ladybird homeobox corepressor 1-like protein;	137					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	SMAD binding|nucleotide binding|transcription corepressor activity|transcription repressor activity			endometrium(1)	1						TGGCAGCTTGGGCGGCCTGTT	0.662000														1			5		0	0	0.021553	0	0
TJP1	7082	broad.mit.edu	37	15	30001210	30001210	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:30001210G>A	uc001zcr.3	-	24	4878	c.4403C>T	c.(4402-4404)tCc>tTc	p.S1468F	TJP1_uc010azl.3_Missense_Mutation_p.S1456F|TJP1_uc001zcq.3_Missense_Mutation_p.S1392F|TJP1_uc001zcs.3_Missense_Mutation_p.S1388F	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1468					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGACACTAAGGAATTCTGAAA	0.408000														23			42		0	0	0.124865	0	0
EML1	2009	broad.mit.edu	37	14	100317273	100317273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:100317273G>A	uc001ygr.3	+	1	220	c.151G>A	c.(151-153)Gac>Aac	p.D51N	EML1_uc010avt.1_Missense_Mutation_p.D38N|EML1_uc010tww.2_Missense_Mutation_p.D20N|EML1_uc001ygq.3_Missense_Mutation_p.D51N|EML1_uc001ygs.3_Missense_Mutation_p.D51N	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	51						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GCAAGAAGACGACATCCAGCT	0.512000														35			19		0	0	0.055883	0	0
MARCO	8685	broad.mit.edu	37	2	119731990	119731990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:119731990G>A	uc002tln.1	+	4	674	c.542G>A	c.(541-543)gGg>gAg	p.G181E	MARCO_uc010yyf.1_Missense_Mutation_p.G103E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	181	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGCCAAGGGGGCTATGGGA	0.572000														10			5		0	0	0.038147	0	0
OR2L3	391192	broad.mit.edu	37	1	248224856	248224856	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:248224856G>A	uc001idx.1	+	0	873	c.873G>A	c.(871-873)ctG>ctA	p.L291L	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TCTATAGCCTGAGGAACAAGG	0.498000														38			27		0	0	0.045705	0	0
ZFYVE21	79038	broad.mit.edu	37	14	104195265	104195265	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr14:104195265T>C	uc001yod.3	+	3	477	c.379T>C	c.(379-381)Ttt>Ctt	p.F127L	ZFYVE21_uc001yoc.3_Missense_Mutation_p.F127L|ZFYVE21_uc001yoe.3_5'Flank	NM_001198953	NP_001185882	Q9BQ24	ZFY21_HUMAN	Homo sapiens zinc finger, FYVE domain containing 21 (ZFYVE21), transcript variant 1, mRNA.	127						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		CCTCGTCACGTTTGGAAACTC	0.512000														36			14		0	0	0.119110	0	0
FCRL3	115352	broad.mit.edu	37	1	157660220	157660220	+	Silent	SNP	C	T	T	rs138291587	byFrequency	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:157660220C>T	uc001fqz.4	-	8	1807	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.P231P|FCRL3_uc001frb.3_Silent_p.P505P|FCRL3_uc001frc.1_Silent_p.P505P	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	505	Ig-like C2-type 6.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGTACAGGATCGGGAAGGAGC	0.607000														34			28		0	0	0.108266	0	0
PDS5B	23047	broad.mit.edu	37	13	33327526	33327526	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr13:33327526C>T	uc010abf.3	+	24	2979	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	931					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AAGGCCTTTCCCGTTTACGGC	0.408000														70			44		0	0	0.139131	0	0
ZNF616	90317	broad.mit.edu	37	19	52619644	52619644	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:52619644C>G	uc002pym.3	-	3	1056	c.773G>C	c.(772-774)aGa>aCa	p.R258T	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CCTTTGGTGTCTTACAAAATA	0.383000														55			12		0	0	0.093190	0	0
PGP	283871	broad.mit.edu	37	16	2264143	2264143	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:2264143G>A	uc002cpk.1	-	0	680	c.636C>T	c.(634-636)atC>atT	p.I212I		NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	212					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						ACGGACCCGCGATGAAGCGGC	0.726000														11			10		0	0	0.058154	0	0
CDC14A	8556	broad.mit.edu	37	1	100856301	100856301	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:100856301C>G	uc001dtf.2	+	3	718	c.230C>G	c.(229-231)tCa>tGa	p.S77*	CDC14A_uc009web.2_Non-coding_Transcript|CDC14A_uc010oui.1_Nonsense_Mutation_p.S19*|CDC14A_uc001dte.4_Nonsense_Mutation_p.S77*|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Nonsense_Mutation_p.S77*|CDC14A_uc009wee.3_Nonsense_Mutation_p.S77*|CDC14A_uc009wec.1_Nonsense_Mutation_p.S77*	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	77	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TACAGTTTGTCAAGAAAGAAA	0.358000														24			7		0	0	0.038147	0	0
SPTA1	6708	broad.mit.edu	37	1	158597469	158597469	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:158597469G>A	uc001fst.1	-	39	5809	c.5610C>T	c.(5608-5610)gtC>gtT	p.V1870V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1870					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.A1869A(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGGTCTCATGGACAGCAAAGT	0.398000														68			40		0	0	0.139131	0	0
PXDNL	137902	broad.mit.edu	37	8	52321966	52321966	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:52321966G>C	uc003xqu.4	-	16	2319	c.2218C>G	c.(2218-2220)Ccc>Gcc	p.P740A	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	740					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CCCCACGTGGGCTGCTGCAGG	0.701000														37			4		0	0	0.009096	0	0
TRIM23	373	broad.mit.edu	37	5	64907555	64907555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:64907555C>T	uc003jty.3	-	3	606	c.520G>A	c.(520-522)Gag>Aag	p.E174K	TRIM23_uc003jtw.3_Missense_Mutation_p.E174K|TRIM23_uc003jtx.3_Missense_Mutation_p.E174K	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	174					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATAGTTTTCTCATGAGGTTTA	0.443000														74			47		0	0	0.139131	0	0
ABI3	51225	broad.mit.edu	37	17	47296976	47296976	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:47296976C>T	uc002iop.1	+	3	1035	c.537C>T	c.(535-537)tcC>tcT	p.S179S	ABI3_uc002ioq.1_Silent_p.S173S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	179					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CACCCGCCTCCGCCACCTTGG	0.687000										HNSCC(55;0.14)				7			7		0	0	0.069234	0	0
ADAM12	8038	broad.mit.edu	37	10	127738159	127738159	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:127738159C>T	uc001ljk.2	-	14	2111	c.1698G>A	c.(1696-1698)tcG>tcA	p.S566S	ADAM12_uc010qul.1_Silent_p.S517S|ADAM12_uc001ljm.3_Silent_p.S566S|ADAM12_uc001ljn.3_Silent_p.S563S|ADAM12_uc001ljl.4_Silent_p.S563S	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	566	Cys-rich.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		AGGAACTCTTCGAGACTTTGC	0.483000														29			43		0	0	0.139131	0	0
SLC4A11	83959	broad.mit.edu	37	20	3214214	3214214	+	Silent	SNP	C	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:3214214C>A	uc010zqe.2	-	6	929	c.804G>T	c.(802-804)ggG>ggT	p.G268G	SLC4A11_uc002wig.3_Silent_p.G241G|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.G225G	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	241					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGGAATTCTCCCCCCAGTTCT	0.637000														52			32		1.45844e-13	1.52445e-13	0.054565	1	0
NXPH2	11249	broad.mit.edu	37	2	139428696	139428696	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:139428696C>T	uc002tvi.3	-	1	591	c.591G>A	c.(589-591)gcG>gcA	p.A197A		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	197	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		CGGTCTTTTTCGCCCGATCTG	0.488000														12			4		0	0	0.009096	0	0
NPM1	4869	broad.mit.edu	37	5	170827906	170827906	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:170827906C>T	uc003mbi.3	+	7	891	c.646C>T	c.(646-648)Cca>Tca	p.P216S	NPM1_uc003mbh.3_Missense_Mutation_p.P216S|NPM1_uc003mbj.3_Intron	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	216				P -> S (in Ref. 21; AAA36473).	CenH3-containing nucleosome assembly at centromere|DNA repair|anti-apoptosis|cell aging|centrosome cycle|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	NF-kappaB binding|RNA binding|Tat protein binding|histone binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTCAAAACCATCATCAAC	0.378000			"""T, F """	"""ALK, RARA, MLF1"""	"""NHL, APL, AML"""									42			20		0	0	0.116897	0	0
MYH4	4622	broad.mit.edu	37	17	10362568	10362568	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:10362568C>A	uc002gmn.3	-	15	1698	c.1587_splice	c.e15+1	p.K529_splice	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	529	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin 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						TCATATGAACCTTCTCGATGA	0.473000														96			28		4.02929e-09	4.14348e-09	0.045705	1	0
ZNF91	7644	broad.mit.edu	37	19	23544783	23544783	+	Missense_Mutation	SNP	C	T	T	rs410211		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:23544783C>T	uc002nre.3	-	3	1111	c.998G>A	c.(997-999)cGt>cAt	p.R333H	ZNF91_uc010xrj.2_Missense_Mutation_p.R301H	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	333				R -> H (in Ref. 1; AAA59469).		nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R333H(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAACGGCTAAAAGC	0.393000														111			5		0	0	0.014758	0	0
RNF212	285498	broad.mit.edu	37	4	1107151	1107151	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:1107151G>A	uc003gcj.3	-	0	202	c.102C>T	c.(100-102)ctC>ctT	p.L34L	RNF212_uc003gci.3_Silent_p.L34L|RNF212_uc010ibp.3_Non-coding_Transcript|RNF212_uc010ibq.3_Silent_p.L34L|RNF212_uc021xkh.1_Silent_p.L34L	NM_001131034	NP_001124506	Q495C1	RN212_HUMAN	Homo sapiens ring finger protein 212 (RNF212), transcript variant 1, mRNA.	34							zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GACCTTTGCCGAGGCAGGCGT	0.667000														15			8		0	0	0.038147	0	0
RYR1	6261	broad.mit.edu	37	19	38942423	38942423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:38942423G>A	uc002oit.3	+	11	1272	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	RYR1_uc002oiu.3_Missense_Mutation_p.G381D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	381	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|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	p.G381C(1)		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)	CACCAGGAGGGCCACATGGAC	0.627000														46			39		0	0	0.111260	0	0
FAM83H	286077	broad.mit.edu	37	8	144809676	144809676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:144809676G>A	uc003yzk.3	-	4	2024	c.1955C>T	c.(1954-1956)cCa>cTa	p.P652L		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	652					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTCGCGCTCTGGGCCGTTGCC	0.751000														5			10		0	0	0.069234	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361141	105361141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr8:105361141C>T	uc003ylx.1	+	1	410	c.361C>T	c.(361-363)Ctc>Ttc	p.L121F		NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	Homo sapiens transmembrane 7 superfamily member 4 (TM7SF4), mRNA.	121					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTTTAAAGGTCTCCTAGATGG	0.418000														41			13		0	0	0.119110	0	0
CLK2P	1197	broad.mit.edu	37	7	23624979	23624979	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:23624979G>A	uc003swk.2	-	0	1168	c.518C>T	c.(517-519)cCt>cTt	p.P173L						Homo sapiens CDC-like kinase 2, pseudogene (CLK2P), non-coding RNA.																		CATCCGGGAAGGGATAGGACC	0.493000														56			20		0	0	0.069288	0	0
HTR2C	3358	broad.mit.edu	37	X	114141216	114141216	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:114141216G>A	uc004epu.1	+	5	1343	c.615G>A	c.(613-615)acG>acA	p.T205T	HTR2C_uc010nqc.1_Silent_p.T205T|HTR2C_uc004epv.1_Missense_Mutation_p.D174N	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	205					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.N204S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TGAACAACACGACGTGCGTGC	0.453000														19			82		0	0	0.139131	0	0
FAM5C	339479	broad.mit.edu	37	1	190068164	190068164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:190068164G>A	uc001gse.1	-	7	1517	c.1285C>T	c.(1285-1287)Ccg>Tcg	p.P429S	FAM5C_uc010pot.1_Missense_Mutation_p.P327S	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	429						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGGTCATTCGGACACGTGCAC	0.592000														17			13		0	0	0.132662	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256283	71256283	+	RNA	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:71256283G>A	uc002sho.3	+	2		c.453G>A			OR7E91P_uc010fdz.3_Non-coding_Transcript					Homo sapiens olfactory receptor, family 7, subfamily E, member 91 pseudogene (OR7E91P), non-coding RNA.																		GTTTCACCTCGGCCACGGTTC	0.552000														11			3		0	0	0.009096	0	0
PCDH15	65217	broad.mit.edu	37	10	55996643	55996643	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:55996643G>A	uc010qhy.1	-	9	1335	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	PCDH15_uc010qhq.2_Nonsense_Mutation_p.Q314*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.Q309*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.Q309*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.Q314*|PCDH15_uc010qht.2_Nonsense_Mutation_p.Q309*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.Q309*|PCDH15_uc001jjv.1_Nonsense_Mutation_p.Q287*|PCDH15_uc021pqy.1_Nonsense_Mutation_p.Q309*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.Q287*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.Q309*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.Q272*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.Q309*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.Q309*|PCDH15_uc010qia.1_Nonsense_Mutation_p.Q287*|PCDH15_uc001jju.1_Nonsense_Mutation_p.Q309*|PCDH15_uc010qib.1_Nonsense_Mutation_p.Q287*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.Q309*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	309	Cadherin 3.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCGGTCCTGATCAATGGCT	0.388000										HNSCC(58;0.16)				30			63		0	0	0.139131	0	0
ABCC6	368	broad.mit.edu	37	16	16256896	16256896	+	Missense_Mutation	SNP	C	T	T	rs147794514		TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr16:16256896C>T	uc002den.4	-	23	3497	c.3460G>A	c.(3460-3462)Gta>Ata	p.V1154I	ABCC6_uc010bvo.3_Intron	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	1154	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTTTCATCTACGCGAGCATTG	0.572000														264			5		0	0	0.038147	0	0
CLASP2	23122	broad.mit.edu	37	3	33576729	33576729	+	Silent	SNP	A	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr3:33576729A>C	uc021wvc.1	-	33	4018	c.3807T>G	c.(3805-3807)ccT>ccG	p.P1269P	CLASP2_uc003cfs.3_Silent_p.P468P|CLASP2_uc021wva.1_Silent_p.P343P|CLASP2_uc021wvb.1_Silent_p.P1048P|CLASP2_uc011axt.1_Silent_p.P861P	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1270								p.H1268L(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						ACATACCGTCAGGAAACTGGT	0.393000														10			17		0	0	0.043863	0	0
XPO1	7514	broad.mit.edu	37	2	61719317	61719317	+	Silent	SNP	G	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:61719317G>C	uc010ypn.2	-	16	1869	c.1740C>G	c.(1738-1740)gtC>gtG	p.V580V	XPO1_uc010fcl.3_Silent_p.V576V|XPO1_uc002sbj.3_Silent_p.V580V|XPO1_uc002sbk.3_Silent_p.V141V|XPO1_uc002sbh.3_Silent_p.V227V	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	580	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			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)			CCATATCCTGGACTCCATCAT	0.368000			Mis		CLL									44			24		0	0	0.134883	0	0
DNAH8	1769	broad.mit.edu	37	6	38899616	38899616	+	Silent	SNP	C	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:38899616C>A	uc021yzh.1	+	75	11413	c.11304C>A	c.(11302-11304)atC>atA	p.I3768I	DNAH8_uc003ooe.2_Silent_p.I3551I|DNAH8_uc003oog.1_5'UTR|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											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						AATGTGATATCATGGATACAT	0.338000														100			79		3.98749e-38	4.23776e-38	0.139131	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48578067	48578068	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:48578067_48578068GG>AA	uc010xzd.2	-	11	1329_1330	c.992_993CC>TT	c.(991-993)tcc>tTT	p.S331F	PLA2G4C_uc002phw.3_Missense_Mutation_p.S256F|PLA2G4C_uc010elr.3_Missense_Mutation_p.S321F|PLA2G4C_uc002phx.3_Missense_Mutation_p.S321F	NM_001159322	NP_001152794	Q9UP65	PA24C_HUMAN	Homo sapiens phospholipase A2, group IVC (cytosolic, calcium-independent) (PLA2G4C), transcript variant 2, mRNA.	321	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GCTTTTCCAGGGAGGTCCTGGT	0.535000														123			69		0	0	0.115264	0	0
ZMYND8	23613	broad.mit.edu	37	20	45867868	45867868	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr20:45867868G>A	uc010zxy.1	-	14	2402	c.2320C>T	c.(2320-2322)Cca>Tca	p.P774S	ZMYND8_uc010ghq.1_Missense_Mutation_p.P424S|ZMYND8_uc010ghr.1_Missense_Mutation_p.P722S|ZMYND8_uc002xst.1_Missense_Mutation_p.P675S|ZMYND8_uc002xsu.1_Intron|ZMYND8_uc002xsv.1_Missense_Mutation_p.P675S|ZMYND8_uc002xsw.1_Missense_Mutation_p.P499S|ZMYND8_uc002xsx.1_Missense_Mutation_p.P499S|ZMYND8_uc002xsy.1_Missense_Mutation_p.P722S|ZMYND8_uc002xsz.1_Missense_Mutation_p.P684S|ZMYND8_uc002xta.1_Missense_Mutation_p.P747S|ZMYND8_uc002xtb.1_Missense_Mutation_p.P767S|ZMYND8_uc002xss.2_Missense_Mutation_p.P747S|ZMYND8_uc010zxz.1_Intron|ZMYND8_uc002xtc.1_Missense_Mutation_p.P767S|ZMYND8_uc002xtd.1_Missense_Mutation_p.P742S|ZMYND8_uc002xte.1_Missense_Mutation_p.P747S|ZMYND8_uc010zya.1_Missense_Mutation_p.P747S|ZMYND8_uc002xtf.1_Missense_Mutation_p.P767S|ZMYND8_uc002xtg.3_Missense_Mutation_p.P741S|ZMYND8_uc010ghs.2_Missense_Mutation_p.P741S|ZMYND8_uc002xsr.1_5'UTR	NM_183047	NP_898868	Q9ULU4	PKCB1_HUMAN	Homo sapiens zinc finger, MYND-type containing 8 (ZMYND8), transcript variant 1, mRNA.	747							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			GTGGATGGTGGAGTTTTACCT	0.562000														69			64		0	0	0.139131	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188964	140188964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:140188964C>T	uc003lhi.2	+	0	2293	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A731V|PCDHAC2_uc011daa.2_Missense_Mutation_p.A731V	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	740					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGAGGGCGCGTGCGCTCCG	0.667000														47			11		0	0	0.093190	0	0
DSCAM	1826	broad.mit.edu	37	21	41648177	41648177	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr21:41648177G>A	uc002yyq.1	-	10	2655	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	735	Ig-like C2-type 8.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCAATTGGCTGGAACTGGGGA	0.493000														27			11		0	0	0.093190	0	0
TNXB	7148	broad.mit.edu	37	6	32037368	32037368	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:32037368C>T	uc003nzl.2	-	14	5751	c.5549G>A	c.(5548-5550)gGc>gAc	p.G1850D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1932					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACACGCTTGCCGTGGTGCAG	0.682000														12			67		0	0	0.139131	0	0
CCKAR	886	broad.mit.edu	37	4	26483482	26483482	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:26483482G>A	uc003gse.1	-	4	1218	c.1065C>T	c.(1063-1065)atC>atT	p.I355I		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	355					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ACAGGAGGAGGATGAAGGAAA	0.617000														62			28		0	0	0.134883	0	0
TMEM63B	55362	broad.mit.edu	37	6	44114650	44114650	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:44114650C>T	uc003owr.3	+	10	913	c.849C>T	c.(847-849)ttC>ttT	p.F283F	TMEM63B_uc003owq.1_Silent_p.F283F|TMEM63B_uc003ows.3_Silent_p.F186F|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	283						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCCTAATGTTCCTCGATGCAG	0.577000														81			15		0	0	0.049695	0	0
HS3ST5	222537	broad.mit.edu	37	6	114379025	114379025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr6:114379025G>A	uc003pwg.4	-	1	469	c.437C>T	c.(436-438)tCc>tTc	p.S146F	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Missense_Mutation_p.S146F	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	146					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding	p.S146F(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CTGAGGGTAGGAAAAAGGCAT	0.388000														22			45		0	0	0.124865	0	0
ODZ2	57451	broad.mit.edu	37	5	167642213	167642213	+	Silent	SNP	C	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr5:167642213C>G	uc010jjd.3	+	20	3987	c.3987C>G	c.(3985-3987)ccC>ccG	p.P1329P	ODZ2_uc003lzr.4_Silent_p.P1099P|ODZ2_uc003lzt.4_Silent_p.P702P|ODZ2_uc010jje.3_Silent_p.P593P	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGTGTCTACCCTTTGATGAAG	0.567000														113			43		0	0	0.117977	0	0
PTH2R	5746	broad.mit.edu	37	2	209302538	209302538	+	Silent	SNP	T	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:209302538T>C	uc010zjb.2	+	3	662	c.376T>C	c.(376-378)Tta>Cta	p.L126L	PTH2R_uc002vdb.3_Silent_p.L115L	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	115						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TATGCACAGCTTAAATAAAAC	0.408000														32			19		0	0	0.049695	0	0
TJP2	9414	broad.mit.edu	37	9	71869274	71869274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:71869274G>A	uc004ahe.3	+	22	3875	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	TJP2_uc011lrs.2_Missense_Mutation_p.R1016Q|TJP2_uc004ahf.3_Missense_Mutation_p.R1039Q|TJP2_uc011lru.2_Missense_Mutation_p.R1153Q|TJP2_uc011lrv.2_Missense_Mutation_p.R1217Q|TJP2_uc010mom.1_3'UTR	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	1186					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCCCGATACCGGGACACAGAA	0.587000														42			16		0	0	0.132662	0	0
OR1K1	392392	broad.mit.edu	37	9	125562678	125562678	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr9:125562678A>C	uc011lze.2	+	0	277	c.277A>C	c.(277-279)Atc>Ctc	p.I93L		NM_080859	NP_543135	Q8NGR3	OR1K1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily K, member 1 (OR1K1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGACCACTCCATCTCGCTGGC	0.572000														69			39		0	0	0.139131	0	0
NFASC	23114	broad.mit.edu	37	1	204942404	204942404	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:204942404C>A	uc010prc.2	+	11	1277	c.-252_splice	c.e11-1		NFASC_uc001hbh.3_Splice_Site_p.S379_splice|NFASC_uc010pqz.2_Splice_Site_p.S373_splice|NFASC_uc001hbj.3_Splice_Site_p.S379_splice|NFASC_uc010pra.2_Splice_Site_p.S390_splice|NFASC_uc001hbi.3_Splice_Site_p.S390_splice|NFASC_uc009xbg.1_Splice_Site_p.S463_splice|NFASC_uc010prb.2_Splice_Site_p.S390_splice|NFASC_uc001hbk.1_Splice_Site_p.S200_splice			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.						axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.S390*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTGTCTGTAGCGGCACCACCT	0.612000														86			4		0.0293803	0.0297315	0.029380	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17699187	17699187	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:17699187C>T	uc002rcl.1	-	0	520	c.496G>A	c.(496-498)Gat>Aat	p.D166N	RAD51AP2_uc010exn.1_Missense_Mutation_p.D157N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	166										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCATGTATATCGTGTATAGAG	0.423000														37			26		0	0	0.045705	0	0
TNR	7143	broad.mit.edu	37	1	175332892	175332892	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr1:175332892G>A	uc001gkp.1	-	10	2740	c.2659C>T	c.(2659-2661)Cct>Tct	p.P887S	TNR_uc009wwu.1_Missense_Mutation_p.P887S	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	887	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GATGCAACAGGAGGGCTCCAG	0.428000														56			32		0	0	0.059317	0	0
NUP62CL	54830	broad.mit.edu	37	X	106396494	106396494	+	Silent	SNP	T	C	C			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:106396494T>C	uc004ena.3	-	6	697	c.438A>G	c.(436-438)gaA>gaG	p.E146E	NUP62CL_uc004enb.3_Non-coding_Transcript	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	146					protein transport	nuclear pore	structural constituent of nuclear pore	p.Q145H(1)		lung(4)	4						GAAATTCTAGTTCCTGCTGCT	0.378000														14			56		0	0	0.139131	0	0
CYP20A1	57404	broad.mit.edu	37	2	204131388	204131388	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr2:204131388A>G	uc010zif.2	+	4	1206	c.584A>G	c.(583-585)cAg>cGg	p.Q195R	CYP20A1_uc002uzv.4_Missense_Mutation_p.Q195R|CYP20A1_uc002uzx.4_Missense_Mutation_p.Q93R|CYP20A1_uc002uzy.4_Missense_Mutation_p.Q93R|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_5'UTR	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	195						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						ATTCGCTTCCAGAAGAATCAT	0.468000														61			46		0	0	0.139131	0	0
VENTX	27287	broad.mit.edu	37	10	135053689	135053689	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr10:135053689C>T	uc010quy.1	+	2	667	c.656C>T	c.(655-657)tCc>tTc	p.S219F		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	219					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCGGGAGCTTCCTGCTGCGGG	0.716000														6			8		0	0	0.058154	0	0
COL2A1	1280	broad.mit.edu	37	12	48369116	48369116	+	Silent	SNP	G	A	A	rs139957398	byFrequency	TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr12:48369116G>A	uc001rqu.3	-	50	4051	c.3870C>T	c.(3868-3870)caC>caT	p.H1290H	COL2A1_uc001rqt.3_Silent_p.H71H|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Silent_p.H1221H	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1290	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCCACTCAGGGTGGCAGAGTT	0.602000														28			7		0	0	0.038147	0	0
AXIN2	8313	broad.mit.edu	37	17	63533688	63533688	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:63533688G>A	uc002jfi.3	-	5	1755	c.1466C>T	c.(1465-1467)cCc>cTc	p.P489L	AXIN2_uc002jfh.3_Missense_Mutation_p.P489L	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	489					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGCGGCCGCGGGAGGCAGCTT	0.692000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome					11			8		0	0	0.047766	0	0
TSGA13	114960	broad.mit.edu	37	7	130353978	130353978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:130353978C>T	uc003vqi.3	-	7	1161	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	COPG2_uc003vqh.1_5'Flank|TSGA13_uc003vqj.3_Missense_Mutation_p.R235Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	235										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CAGTGGTTCCCGAATCACTTT	0.567000														51			58		0	0	0.139131	0	0
HDC	3067	broad.mit.edu	37	15	50544884	50544884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:50544884C>T	uc001zxz.3	-	7	1217	c.875G>A	c.(874-876)gGg>gAg	p.G292E	HDC_uc001zxy.3_Missense_Mutation_p.G35E|HDC_uc010uff.2_Missense_Mutation_p.G292E	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	292					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ATACTCAATCCCCTTCAGAAA	0.562000														7			5		0	0	0.021553	0	0
C3	718	broad.mit.edu	37	19	6711045	6711045	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:6711045G>A	uc002mfm.3	-	11	1494	c.1432C>T	c.(1432-1434)Cga>Tga	p.R478*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	478					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTCCATTCGCAGGAGGAAG	0.602000														158			70		0	0	0.139131	0	0
ZNF44	51710	broad.mit.edu	37	19	12384185	12384185	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:12384185G>A	uc010xmj.2	-	4	1234	c.1029C>T	c.(1027-1029)tcC>tcT	p.S343S	ZNF44_uc002mtl.3_Intron|ZNF44_uc010xmi.2_Non-coding_Transcript|ZNF44_uc002mtn.4_Non-coding_Transcript|ZNF44_uc010dys.3_Silent_p.S295S	NM_001164276	NP_001157748	P15621	ZNF44_HUMAN	Homo sapiens zinc finger protein 44 (ZNF44), transcript variant 1, mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		GTACTCGAAGGGAACCGGAAA	0.408000														50			25		0	0	0.076483	0	0
OR4C15	81309	broad.mit.edu	37	11	55322738	55322738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:55322738C>T	uc010rig.2	+	0	956	c.956C>T	c.(955-957)tCc>tTc	p.S319F		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TCTGCTTTTTCCCTTGACAAA	0.403000										HNSCC(20;0.049)				40			82		0	0	0.139131	0	0
DEPDC7	91614	broad.mit.edu	37	11	33053931	33053931	+	Silent	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:33053931G>A	uc001mub.3	+	5	1136	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	DEPDC7_uc001muc.3_Silent_p.K339K	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	348					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TCCTTCTAAAGCTTTTAGATT	0.333000														11			47		0	0	0.139131	0	0
MAB21L2	10586	broad.mit.edu	37	4	151505096	151505096	+	Silent	SNP	G	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr4:151505096G>T	uc003ilw.3	+	0	2020	c.915G>T	c.(913-915)ctG>ctT	p.L305L	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	305					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GCATCCTGCTGCAGCTCATCT	0.627000														77			13		4.3838e-07	4.47183e-07	0.105934	1	0
SLC24A1	9187	broad.mit.edu	37	15	65917344	65917344	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr15:65917344G>A	uc010ujf.2	+	1	1213	c.926G>A	c.(925-927)gGa>gAa	p.G309E	SLC24A1_uc010ujd.1_Missense_Mutation_p.G309E|SLC24A1_uc010uje.1_Missense_Mutation_p.G309E|SLC24A1_uc010ujg.2_Missense_Mutation_p.G309E|SLC24A1_uc010ujh.2_Missense_Mutation_p.G309E	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	309					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACTCCCCAGGGAACAGTCCTG	0.552000														45			82		0	0	0.139131	0	0
PAMR1	25891	broad.mit.edu	37	11	35454038	35454038	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr11:35454038C>T	uc001mwf.3	-	11	2123	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	PAMR1_uc001mwg.3_Missense_Mutation_p.A677T|PAMR1_uc010rew.2_Missense_Mutation_p.A566T|PAMR1_uc010rex.2_Missense_Mutation_p.A637T	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	677	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TCAGGAGATGCTCGTCCCGGG	0.577000														69			24		0	0	0.116897	0	0
ELANE	1991	broad.mit.edu	37	19	856086	856086	+	Silent	SNP	C	T	T			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr19:856086C>T	uc002lqb.3	+	4	764	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	242	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TAAACTGGATCGACTCTATCA	0.652000														160			87		0	0	0.139131	0	0
XIST	7503	broad.mit.edu	37	X	73070880	73070880	+	RNA	SNP	G	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chrX:73070880G>A	uc004ebm.1	-	0		c.1709C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		CCAGGTCTTCGCTGAGTAGCT	0.502000														13			48		0	0	0.139131	0	0
MUC3A	4584	broad.mit.edu	37	7	100609643	100609645	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr7:100609643_100609645delTGC	uc003uxl.1	+	7	2875_2877	c.2075_2077delTGC	c.(2074-2079)gtgctg>gtg	p.L696del	AK096803_uc003uxm.1_5'Flank|AK096803_uc003uxn.1_Non-coding_Transcript|MUC3A_uc010lhn.1_Intron					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCGCTGCTGGTGCTGCTGCTGCT	0.788													---	4	---	---	3	---					
WDR16	146845	broad.mit.edu	37	17	9541993	9541994	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A3J3-06A-11D-A20D-08	TCGA-EE-A3J3-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1af14c-b29b-4a85-9f44-a459487a1474	65d94e0e-09ff-464d-89e1-02eab36236a1	g.chr17:9541993_9541994insA	uc010coc.3	+	12	1799_1800	c.1570_1571insA	c.(1570-1572)gagfs	p.E524fs	WDR16_uc002gly.3_Frame_Shift_Ins_p.E514fs|WDR16_uc002glz.3_Frame_Shift_Ins_p.E446fs			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	514						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACCCTGAGGAGTTCCAGATC	0.490													---	90	---	---	17	---