Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
FAIM2	23017	broad.mit.edu	37	12	50295091	50295091	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:50295091C>T	ENST00000320634.3	-	2	127	c.33G>A	c.(31-33)aaG>aaA	p.K11K	FAIM2_ENST00000550890.1_5'UTR	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN	Fas apoptotic inhibitory molecule 2	11					anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TCCCAGGGGCCTTGTTAGCCA	0.597000													5	32					0	0	0.000602	0	0
QSOX1	5768	broad.mit.edu	37	1	180165588	180165588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:180165588G>A	ENST00000367602.3	+	12	1734	c.1660G>A	c.(1660-1662)Gat>Aat	p.D554N	QSOX1_ENST00000367600.5_Missense_Mutation_p.D554N			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	554					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCCCGGAGGGATGTGCAGAA	0.607000													14	101					0	0	0.001855	0	0
ANKEF1	63926	broad.mit.edu	37	20	10036195	10036195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:10036195G>A	ENST00000378380.3	+	10	2547	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.E740K	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		CAGGAAGAGGGAACTACGGCG	0.458000													7	22					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82545510	82545510	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82545510A>T	ENST00000423517.2	-	7	12129	c.11792T>A	c.(11791-11793)gTg>gAg	p.V3931E	PCLO_ENST00000437081.1_Missense_Mutation_p.V651E|PCLO_ENST00000333891.8_Missense_Mutation_p.V3931E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3862					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CATTGTTGCCACAGCTTGGAA	0.458000													29	277					0	0	0.008361	0	0
CFTR	1080	broad.mit.edu	37	7	117232194	117232194	+	Missense_Mutation	SNP	G	G	A	rs121908780		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:117232194G>A	ENST00000003084.6	+	14	2105	c.1973G>A	c.(1972-1974)aGa>aAa	p.R658K	CFTR_ENST00000454343.1_Missense_Mutation_p.R597K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	658					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCAGAAAGAAGAAATTCAATC	0.373000									Cystic Fibrosis				6	32					0	0	0.001168	0	0
TOP3A	7156	broad.mit.edu	37	17	18181278	18181278	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:18181278G>A	ENST00000321105.5	-	18	2752	c.2538C>T	c.(2536-2538)ttC>ttT	p.F846F	TOP3A_ENST00000540524.1_Silent_p.F376F|TOP3A_ENST00000542570.1_Silent_p.F751F	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	846	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGCCCACAGGAAGAAGTTGC	0.647000													16	39					0	0	0.004007	0	0
GCM2	9247	broad.mit.edu	37	6	10874463	10874463	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:10874463G>A	ENST00000379491.4	-	5	1433	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	429					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AGGACCCCAGGGTTCTGGATA	0.552000													12	31					0	0	0.001855	0	0
CORO2B	10391	broad.mit.edu	37	15	69011843	69011843	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:69011843C>T	ENST00000543950.1	+	11	1602	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V	CORO2B_ENST00000540068.1_Silent_p.V416V|CORO2B_ENST00000566799.1_Silent_p.V421V|CORO2B_ENST00000261861.5_Silent_p.V416V	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	421					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GTGTTGTGGTCAACGGAATAG	0.408000													17	34					0	0	0.004007	0	0
TET1	80312	broad.mit.edu	37	10	70333230	70333230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:70333230C>T	ENST00000373644.4	+	2	1344	c.1135C>T	c.(1135-1137)Cct>Tct	p.P379S		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	379					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGGAACTTCCTGGTGCTGA	0.507000													14	117					0	0	0.002450	0	0
CLYBL	171425	broad.mit.edu	37	13	100517114	100517114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:100517114C>T	ENST00000376355.3	+	4	512	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	CLYBL_ENST00000376360.1_Missense_Mutation_p.L195F|CLYBL_ENST00000444838.2_Missense_Mutation_p.L161F|CLYBL_ENST00000339105.4_Missense_Mutation_p.L195F|CLYBL_ENST00000376354.1_Missense_Mutation_p.L161F	NM_206808.2	NP_996531.1	Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	195					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAAGTAGGTCTCTTTCTAGA	0.473000													9	75					0	0	0.006214	0	0
OR10K2	391107	broad.mit.edu	37	1	158390454	158390454	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:158390454C>T	ENST00000314902.2	-	1	202	c.203G>A	c.(202-204)tGc>tAc	p.C68Y		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C68F(2)		NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AATCTCAGAGCAAGAGAGGAT	0.488000													8	125					0	0	0.003080	0	0
DRGX	644168	broad.mit.edu	37	10	50594752	50594752	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:50594752C>T	ENST00000374139.2	-	4	397	c.387G>A	c.(385-387)aaG>aaA	p.K129K	DRGX_ENST00000434016.1_Silent_p.K134K			C9JW76	C9JW76_HUMAN	dorsal root ganglia homeobox	134					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GCGCCTCCTTCTTACTCCGGG	0.642000													5	31					0	0	0.003080	0	0
FCRL5	83416	broad.mit.edu	37	1	157514150	157514150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:157514150G>A	ENST00000361835.3	-	5	903	c.746C>T	c.(745-747)gCc>gTc	p.A249V	FCRL5_ENST00000356953.4_Missense_Mutation_p.A249V|FCRL5_ENST00000368190.3_Missense_Mutation_p.A249V|FCRL5_ENST00000368191.3_Missense_Mutation_p.A164V|FCRL5_ENST00000368189.3_Missense_Mutation_p.A249V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	249	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTCCACATGGCAGTAATCTG	0.517000													27	173					0	0	0.005443	0	0
OR11H6	122748	broad.mit.edu	37	14	20692782	20692782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:20692782C>T	ENST00000315519.2	+	1	992	c.914C>T	c.(913-915)cCc>cTc	p.P305L		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTAAATCCCCTTATCTAT	0.418000													12	65					0	0	0.000978	0	0
ITK	3702	broad.mit.edu	37	5	156638340	156638340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:156638340C>T	ENST00000422843.3	+	3	438	c.286C>T	c.(286-288)Cgt>Tgt	p.R96C	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	96	PH.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTCCAGATCGTGAGAGCCG	0.493000			T	SYK	peripheral T-cell lymphoma								139	270					0	0	0.003610	0	0
PAK3	5063	broad.mit.edu	37	X	110366397	110366397	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:110366397C>T	ENST00000519681.1	+	5	508	c.66C>T	c.(64-66)aaC>aaT	p.N22N	PAK3_ENST00000446737.1_Silent_p.N22N|PAK3_ENST00000372007.4_Silent_p.N22N|PAK3_ENST00000417227.1_Silent_p.N22N|PAK3_ENST00000360648.4_Silent_p.N22N|PAK3_ENST00000425146.1_Silent_p.N22N|PAK3_ENST00000372010.1_Silent_p.N22N|PAK3_ENST00000262836.4_Silent_p.N22N|PAK3_ENST00000518291.1_Silent_p.N22N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	22					multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ATAGTAACAACCGGGATTCTT	0.478000										TSP Lung(19;0.15)			9	43					0	0	0.008291	0	0
GIMAP7	168537	broad.mit.edu	37	7	150217792	150217792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:150217792G>A	ENST00000313543.4	+	2	887	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	244							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TAAATCAGAGGAAGAAAAGGA	0.279000													4	19					0	0	0.000602	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834427	101834427	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:101834427G>A	ENST00000506729.1	-	1	293	c.122C>T	c.(121-123)tCc>tTc	p.S41F	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S41F|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S41F|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S41F|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S41F			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	41						integral to membrane|plasma membrane	transporter activity	p.S41F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		GGGCTTCGAGGACTTCGGGGT	0.577000													68	130					0	0	0.003610	0	0
LPA	4018	broad.mit.edu	37	6	161007493	161007493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:161007493G>A	ENST00000447678.1	-	26	4237	c.4117C>T	c.(4117-4119)Cct>Tct	p.P1373S	LPA_ENST00000316300.5_Missense_Mutation_p.P1373S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3881	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TCTTCAGAAGGAAGCTCTGTG	0.478000													12	43					0	0	0.004007	0	0
AKAP9	10142	broad.mit.edu	37	7	91646386	91646386	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:91646386A>T	ENST00000359028.2	+	13	4068	c.3843A>T	c.(3841-3843)aaA>aaT	p.K1281N	AKAP9_ENST00000356239.3_Missense_Mutation_p.K1269N|AKAP9_ENST00000358100.2_Missense_Mutation_p.K1281N			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1281					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATACAACAAACTCTTGGTAC	0.313000			T	BRAF	papillary thyroid								4	8					0	0	0.000248	0	0
TBC1D7	51256	broad.mit.edu	37	6	13306760	13306760	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:13306760C>T	ENST00000607658.1	-	6	739		c.e6-1		TBC1D7_ENST00000356436.4_Splice_Site|TBC1D7_ENST00000379307.2_Splice_Site|TBC1D7_ENST00000343141.4_Splice_Site|TBC1D7_ENST00000379300.3_Splice_Site			Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7						positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			ATCCCAAACCCTACAAAAATA	0.289000													10	92					0	0	0.008291	0	0
LONP2	83752	broad.mit.edu	37	16	48286166	48286166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48286166C>T	ENST00000285737.4	+	2	451	c.358C>T	c.(358-360)Ccc>Tcc	p.P120S	LONP2_ENST00000535754.1_Missense_Mutation_p.P120S	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	120	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GAAGCCATATCCCATTGCTGA	0.473000													5	37					0	0	0.000602	0	0
HENMT1	113802	broad.mit.edu	37	1	109191189	109191189	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:109191189C>T	ENST00000370032.5	-	8	1601	c.1181G>A	c.(1180-1182)tGa>tAa	p.*394*	HENMT1_ENST00000402983.1_Silent_p.*394*|HENMT1_ENST00000370031.1_Silent_p.*425*	NM_144584.2	NP_653185.2	Q5T8I9	HENMT_HUMAN	HEN1 methyltransferase homolog 1 (Arabidopsis)	0					gene silencing by RNA|piRNA metabolic process	P granule	metal ion binding|O-methyltransferase activity|RNA binding|RNA methyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	16						AAACATGGTTCAAAACTCAAA	0.363000													5	18					0	0	0.001168	0	0
SIM2	6493	broad.mit.edu	37	21	38098503	38098503	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:38098503G>A	ENST00000290399.6	+	6	1240	c.627G>A	c.(625-627)ggG>ggA	p.G209G	SIM2_ENST00000430056.3_Silent_p.G209G	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	209					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						AGATTGTGGGGCTGGTGGCCG	0.567000													6	75					0	0	0.003080	0	0
FLG	2312	broad.mit.edu	37	1	152276763	152276763	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152276763C>T	ENST00000368799.1	-	3	10634	c.10599G>A	c.(10597-10599)agG>agA	p.R3533R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCCCTGGTTCCTGCTTGTCC	0.577000									Ichthyosis				55	141					0	0	0.003610	0	0
NRG2	9542	broad.mit.edu	37	5	139267057	139267057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:139267057C>T	ENST00000541337.1	-	2	969	c.740G>A	c.(739-741)gGa>gAa	p.G247E	NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000361474.1_Missense_Mutation_p.G247E|NRG2_ENST00000289409.4_Missense_Mutation_p.G247E|NRG2_ENST00000545385.1_Missense_Mutation_p.G247E|NRG2_ENST00000340391.3_Missense_Mutation_p.G44E|NRG2_ENST00000289422.7_Missense_Mutation_p.G247E|NRG2_ENST00000394770.1_Missense_Mutation_p.G247E|NRG2_ENST00000358522.3_Missense_Mutation_p.G247E	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	247	Ig-like C2-type.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCACCTGTCCCGTCTGGCT	0.587000													13	23					0	0	0.001855	0	0
PRR5	55615	broad.mit.edu	37	22	45110508	45110508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:45110508G>A	ENST00000403581.1	+	4	850	c.241G>A	c.(241-243)Ggg>Agg	p.G81R	ARHGAP8_ENST00000389773.5_Missense_Mutation_p.G49R|PRR5_ENST00000336985.6_Missense_Mutation_p.G58R|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.G58R|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.G58R|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.G58R	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		CCAGCGCAAGGGGCTGCCCGA	0.647000													4	71					0	0	0.000602	0	0
EHMT1	79813	broad.mit.edu	37	9	140711964	140711964	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:140711964A>T	ENST00000460843.1	+	24	3475	c.3448A>T	c.(3448-3450)Acc>Tcc	p.T1150S		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1150	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCCACCAGGCACCTTTGTCTG	0.607000													7	52					0	0	0.003080	0	0
SNX7	51375	broad.mit.edu	37	1	99164351	99164351	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:99164351G>A	ENST00000370189.5	+	7	1100	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	SNX7_ENST00000529992.1_Missense_Mutation_p.A255T|SNX7_ENST00000306121.3_Missense_Mutation_p.A310T			Q9UNH6	SNX7_HUMAN	sorting nexin 7	246					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AAAGGATGTTGCCAGCTGCAT	0.418000													18	41					0	0	0.007413	0	0
HMSD	284293	broad.mit.edu	37	18	61621780	61621780	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:61621780G>A	ENST00000408945.3	+	3	413	c.211G>A	c.(211-213)Gat>Aat	p.D71N	HMSD_ENST00000481726.1_3'UTR|HMSD_ENST00000526932.1_Missense_Mutation_p.M36I	NM_001123366.1	NP_001116838.1	A8MTL9	HMSD_HUMAN	histocompatibility (minor) serpin domain containing	71						extracellular region	serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(2)|lung(2)|stomach(1)	6						AAAGTCTTATGATTTCCTCAC	0.388000													11	32					0	0	0.000978	0	0
DNAH2	146754	broad.mit.edu	37	17	7721972	7721972	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:7721972C>T	ENST00000572933.1	+	70	12008	c.10548C>T	c.(10546-10548)gcC>gcT	p.A3516A	DNAH2_ENST00000389173.2_Silent_p.A3516A			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3516	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCCTGGAGGCCCAGCTGCTGG	0.592000													5	77					0	0	0.000602	0	0
RENBP	5973	broad.mit.edu	37	X	153200957	153200957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:153200957C>T	ENST00000393700.3	-	10	1230	c.1150G>A	c.(1150-1152)Gga>Aga	p.G384R	RENBP_ENST00000369997.3_Missense_Mutation_p.G370R|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	384					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AAAGGACCTCCCTTGATGGAG	0.642000													13	32					0	0	0.004007	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393464	145393464	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:145393464C>T	ENST00000511217.1	+	4	951	c.899C>T	c.(898-900)tCc>tTc	p.S300F	SH3RF2_ENST00000359120.4_Missense_Mutation_p.S300F			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	300							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCAGTTTTCCATCACAACA	0.577000													25	91					0	0	0.003954	0	0
RPH3A	22895	broad.mit.edu	37	12	113314621	113314621	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:113314621C>T	ENST00000389385.4	+	13	1618	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000551052.1_Missense_Mutation_p.P370L|RPH3A_ENST00000548866.1_Missense_Mutation_p.P325L|RPH3A_ENST00000415485.3_Missense_Mutation_p.P374L|RPH3A_ENST00000447659.2_Missense_Mutation_p.P325L|RPH3A_ENST00000420983.2_Missense_Mutation_p.P374L|RPH3A_ENST00000543106.2_Missense_Mutation_p.P374L	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	374	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		CAGCCACCACCCCCAGAGGAG	0.597000													5	32					0	0	0.001168	0	0
GLUD2	2747	broad.mit.edu	37	X	120181873	120181873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:120181873G>A	ENST00000328078.1	+	1	412	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	112					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATCAAGCCCTGCAACCATGTG	0.647000													6	9					0	0	0.001168	0	0
HIST1H2BH	8345	broad.mit.edu	37	6	26252154	26252154	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:26252154C>T	ENST00000356350.2	+	1	276	c.276C>T	c.(274-276)tcC>tcT	p.S92S		NM_003524.2	NP_003515.1	Q93079	H2B1H_HUMAN	histone cluster 1, H2bh	92					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	17						CCATCACCTCCAGGGAGATCC	0.602000													9	71					0	0	0.008291	0	0
STEAP2	261729	broad.mit.edu	37	7	89856353	89856353	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:89856353C>T	ENST00000287908.3	+	3	954	c.561C>T	c.(559-561)ttC>ttT	p.F187F	STEAP2_ENST00000394621.2_Silent_p.F187F|STEAP2_ENST00000394632.1_Silent_p.F187F|STEAP2_ENST00000394629.2_Silent_p.F187F|STEAP2_ENST00000394622.2_Silent_p.F187F|STEAP2_ENST00000402625.2_Silent_p.F187F|STEAP2_ENST00000394626.1_Silent_p.F187F	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	187					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					AGTTGAATTTCATTCCCATTG	0.423000													12	68					0	0	0.002450	0	0
RTN2	6253	broad.mit.edu	37	19	45997948	45997948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:45997948G>A	ENST00000245923.4	-	3	630	c.395C>T	c.(394-396)cCa>cTa	p.P132L	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Missense_Mutation_p.P132L|RTN2_ENST00000589384.1_5'UTR|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	132						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GCGCTCGGATGGAGGCGCGGT	0.682000													12	56					0	0	0.000978	0	0
DGKK	139189	broad.mit.edu	37	X	50163469	50163469	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:50163469G>A	ENST00000376025.2	-	0	933							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCCGGTTGGGTGCAGCCAGA	0.393000													30	32					0	0	0.002445	0	0
CARD11	84433	broad.mit.edu	37	7	2959141	2959141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:2959141G>A	ENST00000396946.4	-	18	2778	c.2375C>T	c.(2374-2376)aCc>aTc	p.T792I		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	792					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T785S(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGGACATGGTGCAGGCGTC	0.597000			Mis		DLBCL								6	22					0	0	0.001984	0	0
KCNA6	3742	broad.mit.edu	37	12	4919804	4919804	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:4919804C>T	ENST00000433855.1	+	1	1463	c.597C>T	c.(595-597)ttC>ttT	p.F199F	KCNA6_ENST00000280684.3_Silent_p.F199F	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	199						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TACCCCAGTTCCGTGTAGATG	0.557000										HNSCC(72;0.22)			4	28					0	0	0.000248	0	0
TRBV10-1	28585	broad.mit.edu	37	7	142231779	142231779	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142231779C>T	ENST00000390364.3	-	0	205																											TGTTGTGGTTCCAAGTCTGGT	0.488000													7	87					0	0	0.003080	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921479	12921479	+	Missense_Mutation	SNP	C	C	T	rs140567467		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:12921479C>T	ENST00000240189.2	+	4	1357	c.1270C>T	c.(1270-1272)Cgt>Tgt	p.R424C		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	424										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCTTGGTTCGTGTCAATTG	0.557000													16	98					0	0	0.003330	0	0
LAMA4	3910	broad.mit.edu	37	6	112460974	112460974	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:112460974G>A	ENST00000230538.7	-	23	3487	c.3090C>T	c.(3088-3090)tcC>tcT	p.S1030S	LAMA4_ENST00000522006.1_Silent_p.S1023S|LAMA4_ENST00000389463.4_Silent_p.S1023S|LAMA4_ENST00000424408.2_Silent_p.S1023S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1030	Laminin G-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCACTGATGTGGAGGGGTCCA	0.428000													12	79					0	0	0.004007	0	0
MYOM3	127294	broad.mit.edu	37	1	24388476	24388476	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:24388476C>T	ENST00000330966.7	-	33	4065	c.3903G>A	c.(3901-3903)ggG>ggA	p.G1301G	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Silent_p.G191G|MYOM3_ENST00000374434.3_Silent_p.G1298G			Q5VTT5	MYOM3_HUMAN	myomesin 3	1298										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GGACTTCCTTCCCTGCAGCTA	0.532000													24	156					0	0	0.005443	0	0
LRRC7	57554	broad.mit.edu	37	1	70504702	70504702	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:70504702C>T	ENST00000310961.5	+	22	3514	c.3096C>T	c.(3094-3096)gtC>gtT	p.V1032V	LRRC7_ENST00000035383.5_Silent_p.V1027V|LRRC7_ENST00000415775.2_Silent_p.V311V			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1027						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CAAAAAAAGTCTATCAGTTTG	0.458000													5	21					0	0	0.000602	0	0
VIPR1	7433	broad.mit.edu	37	3	42573337	42573337	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:42573337G>A	ENST00000433647.1	+	10	1395	c.771G>A	c.(769-771)aaG>aaA	p.K257K	VIPR1-AS1_ENST00000602176.1_RNA|VIPR1-AS1_ENST00000600342.1_RNA|VIPR1-AS1_ENST00000598837.1_RNA|VIPR1-AS1_ENST00000596630.1_RNA|VIPR1-AS1_ENST00000593611.1_RNA|VIPR1-AS1_ENST00000593621.1_RNA|VIPR1_ENST00000543411.1_Silent_p.K250K|VIPR1-AS1_ENST00000601312.1_RNA|VIPR1_ENST00000325123.4_Silent_p.K298K|VIPR1-AS1_ENST00000452639.2_RNA|VIPR1_ENST00000438259.2_Silent_p.K88K	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	298					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		GGATCATAAAGGGCCCCATCC	0.567000													14	34					0	0	0.002450	0	0
EYA2	2139	broad.mit.edu	37	20	45702961	45702961	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:45702961C>T	ENST00000327619.5	+	7	1022	c.648C>T	c.(646-648)tcC>tcT	p.S216S	EYA2_ENST00000317304.6_Silent_p.S216S|EYA2_ENST00000357410.3_Silent_p.S216S	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	216					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				ACCAGAGTTCCGAGTCACTTG	0.597000													12	73					0	0	0.001368	0	0
MUC3A	4584	broad.mit.edu	37	7	100552043	100552043	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100552043C>T	ENST00000319509.7	+	1	794	c.794C>T	c.(793-795)tCt>tTt	p.S265F						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						TCTGTTCCTTCTTCACCATAC	0.458000													15	502					0	0	0.003610	0	0
SMPD4	55627	broad.mit.edu	37	2	130930247	130930247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:130930247G>A	ENST00000409031.1	-	7	1723	c.575C>T	c.(574-576)cCg>cTg	p.P192L	SMPD4_ENST00000339679.7_Missense_Mutation_p.P79L|SMPD4_ENST00000351288.6_Missense_Mutation_p.P192L|SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000431183.2_Missense_Mutation_p.P119L|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000452225.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	153					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	atactcGAACGGATCTGAGAG	0.587000													20	67					0	0	0.003330	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91386649	91386649	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:91386649A>G	ENST00000261991.3	-	7	880	c.707T>C	c.(706-708)gTt>gCt	p.V236A	RPS6KA5_ENST00000418736.2_Missense_Mutation_p.V236A|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.V157A	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	236	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CCACCAGTCAACTGCCTATAA	0.294000													24	80					0	0	0.004656	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43627544	43627544	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:43627544G>A	ENST00000332857.6	-	4	1171	c.1143C>T	c.(1141-1143)ccC>ccT	p.P381P		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		TGTTCCAGAAGGGTTTTGGGT	0.448000													24	172					0	0	0.003330	0	0
BEST3	144453	broad.mit.edu	37	12	70049133	70049133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:70049133C>T	ENST00000330891.5	-	10	1787	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	BEST3_ENST00000553096.1_Missense_Mutation_p.D415N|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000488961.1_Missense_Mutation_p.D308N	NM_032735.2	NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	521						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			GTAGCGGAATCATGGTGGTAG	0.557000													19	110					0	0	0.008871	0	0
TNFSF13B	10673	broad.mit.edu	37	13	108922354	108922354	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:108922354C>T	ENST00000375887.4	+	1	289	c.111C>T	c.(109-111)ccC>ccT	p.P37P	TNFSF13B_ENST00000542136.1_Silent_p.P37P|TNFSF13B_ENST00000430559.1_Silent_p.P37P	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	37					cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			AGGAAAGCCCCTCTGTCCGAT	0.537000													17	113					0	0	0.007413	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117774375	117774375	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:117774375T>A	ENST00000528626.1	-	11	1640	c.1567A>T	c.(1567-1569)Atg>Ttg	p.M523L	TMPRSS13_ENST00000430170.2_Missense_Mutation_p.M558L|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.M558L|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.M558L	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	553	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CTTACCTCCATCTTGCTGTAA	0.582000													20	29					0	0	0.003330	0	0
FAM71B	153745	broad.mit.edu	37	5	156589928	156589928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:156589928C>T	ENST00000302938.4	-	2	1443	c.1348G>A	c.(1348-1350)Ggt>Agt	p.G450S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	450						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGACTTTCACCTGCCTTGCGG	0.483000													145	312					0	0	0.003610	0	0
TNN	63923	broad.mit.edu	37	1	175105027	175105027	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:175105027G>A	ENST00000239462.4	+	16	3490	c.3377G>A	c.(3376-3378)tGg>tAg	p.W1126*		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1126	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.W1126*(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TTCAAGCGATGGAGGAGCTAT	0.537000													13	81					0	0	0.002450	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:106757778C>T	ENST00000390611.2	-	0	252																											TAGGATTTTTCGTCATTCGAA	0.532000													11	40					0	0	0.000978	0	0
NOX3	50508	broad.mit.edu	37	6	155718019	155718019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:155718019G>A	ENST00000159060.2	-	13	1760	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	553							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGGGTCAGCTGATGAATACAA	0.463000													19	54					0	0	0.006122	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853154	45853154	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:45853154G>A	ENST00000311275.7	-	19	3265	c.3012C>T	c.(3010-3012)atC>atT	p.I1004I	ZMYND8_ENST00000396281.4_Silent_p.I1004I|ZMYND8_ENST00000540497.1_Silent_p.I952I|ZMYND8_ENST00000446994.2_Silent_p.I895I|ZMYND8_ENST00000372023.3_Silent_p.I926I|ZMYND8_ENST00000536340.1_Silent_p.I1031I|ZMYND8_ENST00000355972.4_Silent_p.I1004I|ZMYND8_ENST00000471951.2_Silent_p.I1024I|ZMYND8_ENST00000458360.2_Silent_p.I872I|ZMYND8_ENST00000352431.2_Silent_p.I978I|ZMYND8_ENST00000360911.3_Silent_p.I953I|ZMYND8_ENST00000262975.4_Silent_p.I958I|ZMYND8_ENST00000461685.1_Silent_p.I978I			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1004							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)			TCACCTCGGCGATGAGCCGGT	0.612000													33	100					0	0	0.002445	0	0
UBQLNL	143630	broad.mit.edu	37	11	5537042	5537042	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5537042T>G	ENST00000380184.1	-	1	893	c.630A>C	c.(628-630)gaA>gaC	p.E210D	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	210										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGCGGGAAACTTCTGGGTTCT	0.463000													18	100					0	0	0.004990	0	0
NUP210	23225	broad.mit.edu	37	3	13401897	13401897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:13401897G>A	ENST00000254508.5	-	15	2109	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	676					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GAAGAATTTGGACGGCTCGAG	0.567000													7	28					0	0	0.003080	0	0
DENND4A	10260	broad.mit.edu	37	15	66044926	66044926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:66044926C>T	ENST00000443035.3	-	4	567	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	DENND4A_ENST00000431932.2_Missense_Mutation_p.E118K	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	118	MABP.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TGAATAATTTCACAACCCTGT	0.323000													3	6					0	0	0.000248	0	0
CSMD2	114784	broad.mit.edu	37	1	34158602	34158602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:34158602C>T	ENST00000373381.4	-	25	4156	c.3980G>A	c.(3979-3981)gGg>gAg	p.G1327E	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.G200E	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1287	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGCTGGATACCCGGGTGACAG	0.552000													17	142					0	0	0.007413	0	0
CACNA1E	777	broad.mit.edu	37	1	181620515	181620515	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:181620515C>T	ENST00000526775.1	+	7	1158	c.993C>T	c.(991-993)ttC>ttT	p.F331F	CACNA1E_ENST00000367573.2_Silent_p.F331F|CACNA1E_ENST00000367570.1_Silent_p.F331F|CACNA1E_ENST00000357570.5_Silent_p.F282F|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Silent_p.F282F|CACNA1E_ENST00000360108.3_Silent_p.F331F	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	331					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTGTACTTCATCCCCCTCA	0.428000													5	78					0	0	0.001984	0	0
METTL14	57721	broad.mit.edu	37	4	119631359	119631359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:119631359C>T	ENST00000388822.4	+	11	1440	c.1273C>T	c.(1273-1275)Cgt>Tgt	p.R425C	METTL14_ENST00000506780.1_Missense_Mutation_p.R387C			Q9HCE5	MTL14_HUMAN	methyltransferase like 14	425	Gly-rich.					nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						TTCTGCTGGCCGTGGACGAGA	0.522000													16	23					0	0	0.003163	0	0
ST14	6768	broad.mit.edu	37	11	130059739	130059739	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:130059739C>T	ENST00000278742.5	+	5	964	c.546C>T	c.(544-546)ccC>ccT	p.P182P		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	182					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)	TCATGCTGCCCCCGCGGGCGC	0.667000													19	52					0	0	0.007413	0	0
EGFR	1956	broad.mit.edu	37	7	55240685	55240685	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:55240685C>T	ENST00000275493.2	+	17	2106	c.1929C>T	c.(1927-1929)atC>atT	p.I643I	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.I598I|EGFR_ENST00000454757.2_Silent_p.I590I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	643					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGCCTAAGATCCCGTCCATCG	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			4	61					0	0	0.000602	0	0
DRD1	1812	broad.mit.edu	37	5	174868996	174868996	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:174868996C>T	ENST00000393752.2	-	2	2099	c.1107G>A	c.(1105-1107)gcG>gcA	p.A369A		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	369					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	TGGAAAACATCGCGGCCCCAT	0.498000													14	101					0	0	0.002450	0	0
ENPP1	5167	broad.mit.edu	37	6	132201143	132201143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:132201143C>T	ENST00000360971.2	+	20	2089	c.2069C>T	c.(2068-2070)cCc>cTc	p.P690L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	690	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATCTTAATGCCCCTTTGGACA	0.403000													8	95					0	0	0.004482	0	0
DCLK1	9201	broad.mit.edu	37	13	36382405	36382405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:36382405C>T	ENST00000255448.4	-	14	2030	c.1819G>A	c.(1819-1821)Gac>Aac	p.D607N	DCLK1_ENST00000379893.1_Missense_Mutation_p.D300N|DCLK1_ENST00000360631.3_Missense_Mutation_p.D607N	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	607	Protein kinase.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		GAAGGAAAGTCCACCTGCCCC	0.428000													15	120					0	0	0.001523	0	0
OR4P4	81300	broad.mit.edu	37	11	55405836	55405836	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:55405836G>A	ENST00000314612.2	+	1	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ACTGGACCATGGAAAAAAGCA	0.303000													34	74					0	0	0.003271	0	0
ACOXL	55289	broad.mit.edu	37	2	111562933	111562933	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:111562933G>A	ENST00000389811.4	+	9	938	c.714G>A	c.(712-714)tcG>tcA	p.S238S	ACOXL_ENST00000439055.1_Silent_p.S238S|ACOXL_ENST00000340561.4_Silent_p.S238S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	238					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TGACCCCTTCGAGATTAGCTG	0.463000													6	81					0	0	0.001168	0	0
OR2T12	127064	broad.mit.edu	37	1	248458608	248458608	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248458608G>A	ENST00000317996.1	-	1	272	c.273C>T	c.(271-273)tcC>tcT	p.S91S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGCCAGCGCGGGAGATGGCCT	0.562000													9	92					0	0	0.000978	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540481	133540481	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:133540481G>A	ENST00000409261.1	-	14	4276	c.3903C>T	c.(3901-3903)atC>atT	p.I1301I	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.I1301I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1301							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TATTGGTAATGATCTGAGTGC	0.562000													6	72					0	0	0.001984	0	0
EEF2	1938	broad.mit.edu	37	19	3982416	3982416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:3982416G>A	ENST00000309311.6	-	5	707	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	207						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGGACAGGATCGATCTGG	0.637000													4	50					0	0	0.000248	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192880	132192880	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:132192880C>T	ENST00000359827.3	-	2	1535	c.573G>A	c.(571-573)ggG>ggA	p.G191G	PLXNA4_ENST00000423507.2_Silent_p.G191G|PLXNA4_ENST00000378539.5_Silent_p.G191G|PLXNA4_ENST00000321063.4_Silent_p.G191G			Q9HCM2	PLXA4_HUMAN	plexin A4	191	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTCGGGCTTCCCATCCACTG	0.537000													11	81					0	0	0.008291	0	0
MLKL	197259	broad.mit.edu	37	16	74708878	74708878	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:74708878G>A	ENST00000308807.7	-	10	1824	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	MLKL_ENST00000306247.7_Missense_Mutation_p.S246F	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	454	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GGGCCGCACAGAGGGATCATG	0.552000													4	33					0	0	0.000248	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:36538042C>T	ENST00000397293.2	-	4	549	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000349314.2_Missense_Mutation_p.E139K|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_5'UTR			O95236	APOL3_HUMAN	apolipoprotein L, 3	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000													11	38					0	0	0.008291	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508112	106508112	+	Missense_Mutation	SNP	G	G	A	rs142342118		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:106508112G>A	ENST00000359195.3	+	2	416	c.106G>A	c.(106-108)Gag>Aag	p.E36K	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E36K|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E36K	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	36					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTCCTCCATGGAGCTCATCCC	0.647000													16	53					0	0	0.007413	0	0
PYROXD2	84795	broad.mit.edu	37	10	100148244	100148244	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:100148244G>A	ENST00000370575.4	-	13	1362	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	PYROXD2_ENST00000483923.1_Intron	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	438							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCGAGGAAGGGATGCAGAGCT	0.622000													4	11					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179634647	179634647	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179634647G>A	ENST00000589042.1	-	37	8885	c.8661C>T	c.(8659-8661)acC>acT	p.T2887T	TTN_ENST00000360870.5_Silent_p.T2887T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.T2841T|TTN_ENST00000342175.6_Silent_p.T2841T|TTN_ENST00000460472.2_Silent_p.T2841T|TTN_ENST00000342992.6_Silent_p.T2887T|TTN_ENST00000591111.1_Silent_p.T2887T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2625	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTTTCATGGTTTTTGTAA	0.373000													7	46					0	0	0.001984	0	0
SUSD1	64420	broad.mit.edu	37	9	114905786	114905786	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:114905786G>A	ENST00000374270.3	-	4	663	c.491C>T	c.(490-492)cCt>cTt	p.P164L	SUSD1_ENST00000374264.2_Missense_Mutation_p.P164L|SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374263.3_Missense_Mutation_p.P164L	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	164						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CGGGTGGAAAGGTTCAGGTCC	0.507000													7	56					0	0	0.001984	0	0
LGALS9	3965	broad.mit.edu	37	17	25967764	25967764	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:25967764G>A	ENST00000395473.2	+	3	1766	c.298G>A	c.(298-300)Gac>Aac	p.D100N	LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000310394.5_Missense_Mutation_p.D100N|LGALS9_ENST00000313648.6_Missense_Mutation_p.D100N|LGALS9_ENST00000413914.2_Missense_Mutation_p.D43N|AC015688.3_ENST00000584605.1_3'UTR|LGALS9_ENST00000302228.5_Missense_Mutation_p.D100N	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	100	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GATGCCCTTTGACCTCTGCTT	0.587000													14	82					0	0	0.002450	0	0
PRKCB	5579	broad.mit.edu	37	16	24046747	24046747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:24046747G>A	ENST00000303531.7	+	5	560	c.408G>A	c.(406-408)atG>atA	p.M136I	PRKCB_ENST00000321728.7_Missense_Mutation_p.M136I	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta	136					apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CAGCCTGCATGATGAATGTGC	0.632000													8	49					0	0	0.008291	0	0
DDX27	55661	broad.mit.edu	37	20	47843021	47843021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:47843021C>T	ENST00000371764.4	+	7	757	c.748C>T	c.(748-750)Cct>Tct	p.P250S	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	250	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGCGTGCATACCTGTGGGTCT	0.587000													6	59					0	0	0.003080	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255514	140255514	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140255514C>T	ENST00000398631.2	+	1	457	c.457C>T	c.(457-459)Cct>Tct	p.P153S	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCATTTTCCTCTAGAGGG	0.438000													21	38					0	0	0.001523	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22972261	22972261	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:22972261C>T	ENST00000356864.3	+	3	790	c.258C>T	c.(256-258)ttC>ttT	p.F86F	TNFRSF10C_ENST00000540813.1_5'UTR|TNFRSF10C_ENST00000520607.1_3'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	86					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CTTCTTGCTTCCCATGTACAG	0.502000													8	63					0	0	0.004482	0	0
PSG6	5675	broad.mit.edu	37	19	43411107	43411107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:43411107C>T	ENST00000187910.2	-	5	1272	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	PSG6_ENST00000292125.2_Missense_Mutation_p.E403K|PSG6_ENST00000402603.4_Missense_Mutation_p.E310K	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TTGGAGATTTCCTTGCCAGTG	0.448000													20	205					0	0	0.007413	0	0
DMBT1	1755	broad.mit.edu	37	10	124390709	124390709	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:124390709G>A	ENST00000368909.3	+	46	5977	c.5871G>A	c.(5869-5871)ggG>ggA	p.G1957G	DMBT1_ENST00000368956.2_Silent_p.G1329G|DMBT1_ENST00000330163.4_Silent_p.G1329G|DMBT1_ENST00000338354.3_Silent_p.G1957G|DMBT1_ENST00000368955.3_Silent_p.G1947G|DMBT1_ENST00000344338.3_Silent_p.G1947G|DMBT1_ENST00000359586.6_Silent_p.G677G	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1957	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGTGCTCAGGGACGGAATCCA	0.552000													8	79					0	0	0.003080	0	0
DNMT1	1786	broad.mit.edu	37	19	10249161	10249161	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:10249161G>A	ENST00000340748.4	-	34	4256	c.4021C>T	c.(4021-4023)Ctg>Ttg	p.L1341L	DNMT1_ENST00000540357.1_Silent_p.L1341L|DNMT1_ENST00000359526.4_Silent_p.L1357L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1341	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACCACGCTCAGCTGGCAGGCC	0.637000													10	56					0	0	0.006214	0	0
XDH	7498	broad.mit.edu	37	2	31600013	31600013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:31600013C>T	ENST00000379416.3	-	14	1381	c.1333G>A	c.(1333-1335)Gga>Aga	p.G445R		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	445					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTGTGGTTCCTGGCTTGAAT	0.502000													11	66					0	0	0.008291	0	0
RAB27A	5873	broad.mit.edu	37	15	55520877	55520877	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:55520877A>C	ENST00000396307.2	-	4	524	c.273T>G	c.(271-273)gaT>gaG	p.D91E	RAB27A_ENST00000336787.1_Missense_Mutation_p.D91E|RAB27A_ENST00000564609.1_Missense_Mutation_p.D91E|RAB27A_ENST00000569493.1_Missense_Mutation_p.D91E	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	91					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		AACCCATAGCATCTCTGAAGA	0.408000													18	33					0	0	0.008871	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261615	21261615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:21261615C>T	ENST00000311620.5	+	2	801	c.728C>T	c.(727-729)tCa>tTa	p.S243L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	243										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		GACTCGTTCTCAGGGGACTTC	0.488000													6	64					0	0	0.001984	0	0
FAM47B	170062	broad.mit.edu	37	X	34961230	34961230	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:34961230G>A	ENST00000329357.5	+	1	318	c.282G>A	c.(280-282)aaG>aaA	p.K94K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	94										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAAGCAGGAAGAAAAAGCTGC	0.527000													18	26					0	0	0.006122	0	0
CHRNA3	1136	broad.mit.edu	37	15	78893897	78893897	+	Missense_Mutation	SNP	C	C	T	rs140801923		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:78893897C>T	ENST00000326828.5	-	5	1471	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E363K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	363					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCGTTGCCCTCGTTGCTTGTT	0.572000													17	38					0	0	0.004007	0	0
NRAS	4893	broad.mit.edu	37	1	115256528	115256528	+	Missense_Mutation	SNP	T	T	G	rs121913255		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:115256528T>G	ENST00000369535.4	-	3	436	c.183A>C	c.(181-183)caA>caC	p.Q61H		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61H(100)|p.Q61Q(3)|p.Q61L(3)|p.Q61R(2)|p.Q61K(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTACTCTTCTTGTCCAGCTG	0.463000	Q61H(ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61H(RD_SOFT_TISSUE)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			34	126					0	0	0.002096	0	0
KMT2C	58508	broad.mit.edu	37	7	151945055	151945055	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:151945055T>C	ENST00000355193.2	-	14	2682	c.2464A>G	c.(2464-2466)Aaa>Gaa	p.K822E	KMT2C_ENST00000262189.6_Missense_Mutation_p.K822E					lysine (K)-specific methyltransferase 2C																		ATGCCAATTTTTGGAGTGACT	0.413000													6	243					0	0	0.003080	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279570	18279570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:18279570C>T	ENST00000593731.1	+	15	2403	c.1843C>T	c.(1843-1845)Ccg>Tcg	p.P615S	PIK3R2_ENST00000222254.7_Missense_Mutation_p.P615S			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	615					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GGACGATCTCCCGCACCACGA	0.667000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	21					0	0	0.001984	0	0
GALNT14	79623	broad.mit.edu	37	2	31133827	31133827	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:31133827G>A	ENST00000349752.5	-	15	2238	c.1599C>T	c.(1597-1599)atC>atT	p.I533I	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000420311.2_Silent_p.I498I|GALNT14_ENST00000406653.1_Silent_p.I513I|GALNT14_ENST00000356174.3_Silent_p.I500I|GALNT14_ENST00000324589.5_Silent_p.I538I	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	533	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTTGACGACGATTTCCTTGC	0.557000													6	53					0	0	0.001168	0	0
HERC4	26091	broad.mit.edu	37	10	69751987	69751987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:69751987G>A	ENST00000395198.3	-	11	1487	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	HERC4_ENST00000412272.2_Missense_Mutation_p.P414S|HERC4_ENST00000373700.4_Missense_Mutation_p.P414S|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Missense_Mutation_p.P304S	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	414					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CTTCCAGAAGGATAGCTCAGC	0.483000													11	34					0	0	0.001368	0	0
PRKG1	5592	broad.mit.edu	37	10	54042050	54042050	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:54042050C>T	ENST00000373980.4	+	14	2100	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	PRKG1_ENST00000373975.2_Silent_p.I264I|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373985.1_Silent_p.I534I|PRKG1_ENST00000401604.2_Silent_p.I546I|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	546	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CACTGGGAATCCTAATGTATG	0.453000													7	15					0	0	0.004482	0	0
ARIH2	10425	broad.mit.edu	37	3	48965197	48965197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:48965197C>T	ENST00000356401.4	+	3	545	c.206C>T	c.(205-207)tCt>tTt	p.S69F	ARIH2_ENST00000490095.1_Intron|ARIH2_ENST00000449376.1_Missense_Mutation_p.S69F	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	69	Asp/Glu-rich (acidic).				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TACAAGGAATCTGAGGGTGCC	0.512000													11	44					0	0	0.001368	0	0
SVEP1	79987	broad.mit.edu	37	9	113170131	113170131	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:113170131G>A	ENST00000401783.2	-	38	8085	c.7749C>T	c.(7747-7749)ttC>ttT	p.F2583F	SVEP1_ENST00000297826.5_Silent_p.F509F|SVEP1_ENST00000374469.1_Silent_p.F2560F	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2583	Sushi 20.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAACCCAGGGAAGCAACTGT	0.488000													14	66					0	0	0.002450	0	0
TACC3	10460	broad.mit.edu	37	4	1729699	1729699	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:1729699C>T	ENST00000313288.4	+	4	676	c.570C>T	c.(568-570)tcC>tcT	p.S190S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	190						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GTTCCTATTCCTTAGACAGAA	0.547000													9	41					0	0	0.000978	0	0
OR6B1	135946	broad.mit.edu	37	7	143701836	143701836	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143701836C>T	ENST00000408922.2	+	1	815	c.747C>T	c.(745-747)ttC>ttT	p.F249F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCACCATTTTCTATTCAGCCA	0.443000													19	80					0	0	0.007413	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711698	155711698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:155711698C>T	ENST00000295101.2	+	3	1856	c.1379C>T	c.(1378-1380)tCt>tTt	p.S460F		NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	460					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.S460Y(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAGATGTTATCTGATCCCATG	0.468000													5	39					0	0	0.000602	0	0
DLX4	1748	broad.mit.edu	37	17	48050431	48050431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:48050431C>T	ENST00000411890.2	+	1	302	c.62C>T	c.(61-63)cCa>cTa	p.P21L	DLX4_ENST00000240306.3_Intron|DLX4_ENST00000503410.1_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	85				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						TTGTGCTGCCCACCAGACTCG	0.642000													5	32					0	0	0.000602	0	0
SUCO	51430	broad.mit.edu	37	1	172501664	172501664	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:172501664C>T	ENST00000367723.3	+	1	176	c.52C>T	c.(52-54)Caa>Taa	p.Q18*		NM_016227.2	NP_057311.2			SUN domain containing ossification factor																		ACATCTAGCTCAATGGGGCAG	0.493000													6	18					0	0	0.004482	0	0
MPDZ	8777	broad.mit.edu	37	9	13162746	13162746	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:13162746C>T	ENST00000319217.7	-	23	3550	c.3303G>A	c.(3301-3303)ttG>ttA	p.L1101L	MPDZ_ENST00000381015.4_Silent_p.L1101L|MPDZ_ENST00000538841.1_5'UTR|MPDZ_ENST00000541718.1_Silent_p.L1101L|MPDZ_ENST00000447879.1_Silent_p.L1101L|MPDZ_ENST00000536827.1_Silent_p.L1101L|MPDZ_ENST00000381022.2_Silent_p.L1101L|MPDZ_ENST00000546205.1_Silent_p.L1115L	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1101					interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATTGTTGTCCCAAGCTTATTT	0.358000													10	51					0	0	0.001368	0	0
PCLO	27445	broad.mit.edu	37	7	82585486	82585486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82585486C>T	ENST00000423517.2	-	5	5120	c.4783G>A	c.(4783-4785)Gaa>Aaa	p.E1595K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1595K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1526					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTTTCTTCCTTCTTCTGG	0.428000													20	153					0	0	0.008871	0	0
ST14	6768	broad.mit.edu	37	11	130059740	130059740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:130059740C>T	ENST00000278742.5	+	5	965	c.547C>T	c.(547-549)Ccg>Tcg	p.P183S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	183					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)	CATGCTGCCCCCGCGGGCGCG	0.667000													17	50					0	0	0.004990	0	0
ATG2B	55102	broad.mit.edu	37	14	96800178	96800178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96800178C>T	ENST00000359933.4	-	8	1947	c.1054G>A	c.(1054-1056)Gat>Aat	p.D352N		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	352										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTTTCCTATCTTTATTAGCT	0.343000													4	55					0	0	0.000602	0	0
CNKSR1	10256	broad.mit.edu	37	1	26514782	26514782	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:26514782C>T	ENST00000531191.1	+	16	1745	c.738C>T	c.(736-738)ccC>ccT	p.P246P	CNKSR1_ENST00000361530.6_Silent_p.P504P|CNKSR1_ENST00000374253.5_Silent_p.P511P			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	511	PDZ.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		GCCGGGCCCCCCCACCCCGAG	0.602000													6	45					0	0	0.003080	0	0
SLC6A9	6536	broad.mit.edu	37	1	44463570	44463570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:44463570G>A	ENST00000372310.3	-	13	1829	c.1664C>T	c.(1663-1665)gCc>gTc	p.A555V	SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A574V|SLC6A9_ENST00000360584.2_Missense_Mutation_p.A628V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A444V|SLC6A9_ENST00000372307.3_Intron	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	628						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CCGGAACATGGCGTAGAGGGG	0.642000													8	33					0	0	0.004482	0	0
DNAH7	56171	broad.mit.edu	37	2	196759829	196759829	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:196759829G>A	ENST00000312428.6	-	30	4867	c.4767C>T	c.(4765-4767)tcC>tcT	p.S1589S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1589	AAA 2 (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						GAATCTTCTCGGAAAAGAATG	0.373000													5	29					0	0	0.001168	0	0
DSCAM	1826	broad.mit.edu	37	21	42080488	42080488	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:42080488G>A	ENST00000400454.1	-	2	730	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	85	Ig-like C2-type 1.				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)				GGAGGGAAGGGGAAAATTTGG	0.498000													8	52					0	0	0.003080	0	0
TDRD1	56165	broad.mit.edu	37	10	115963294	115963294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:115963294G>A	ENST00000251864.2	+	8	1102	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	TDRD1_ENST00000369280.1_Missense_Mutation_p.E317K|TDRD1_ENST00000422662.1_Missense_Mutation_p.E26K|TDRD1_ENST00000369282.1_Missense_Mutation_p.E317K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E317K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	317	Tudor 1.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TGTTAAGGGGGAAGTTTGTAT	0.348000													9	35					0	0	0.008291	0	0
TMCC1	23023	broad.mit.edu	37	3	129547218	129547218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:129547218C>T	ENST00000393238.3	-	3	344	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	2						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCCGAAGGCTCCATCAGTAGA	0.408000													21	40					0	0	0.008871	0	0
SLC16A14	151473	broad.mit.edu	37	2	230910957	230910957	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:230910957C>T	ENST00000295190.4	-	4	1343	c.885G>A	c.(883-885)aaG>aaA	p.K295K		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	295						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		CCTCGAAGCCCTTCCTGACTC	0.517000													8	41					0	0	0.006214	0	0
RRAD	6236	broad.mit.edu	37	16	66956094	66956094	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:66956094C>T	ENST00000299759.6	-	5	1062	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	RRAD_ENST00000420652.1_Missense_Mutation_p.R271Q			P55042	RAD_HUMAN	Ras-related associated with diabetes	271					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AAGGCTCTCTCGCCTCCGGGT	0.607000													4	45					0	0	0.000248	0	0
DSTYK	25778	broad.mit.edu	37	1	205138441	205138441	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:205138441C>A	ENST00000367162.3	-	3	1204	c.1174G>T	c.(1174-1176)Gaa>Taa	p.E392*	DSTYK_ENST00000367161.3_Nonsense_Mutation_p.E392*|DSTYK_ENST00000367160.4_Nonsense_Mutation_p.E392*	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	392						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CGAGTATATTCCAGACGTTTG	0.443000													8	43					7.48243e-07	8.53342e-07	0.006214	1	0
MYO18B	84700	broad.mit.edu	37	22	26294333	26294333	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:26294333G>A	ENST00000335473.7	+	29	4978	c.4728G>A	c.(4726-4728)agG>agA	p.R1576R	CTA-125H2.2_ENST00000599792.1_RNA|CTA-125H2.2_ENST00000600211.1_RNA|CTA-125H2.2_ENST00000600269.1_RNA|CTA-125H2.2_ENST00000597284.1_RNA|CTA-125H2.2_ENST00000599080.1_RNA|CTA-125H2.2_ENST00000594856.1_RNA|CTA-125H2.2_ENST00000600903.1_RNA|CTA-125H2.2_ENST00000594585.1_RNA|MYO18B_ENST00000536101.1_Silent_p.R1576R|CTA-125H2.2_ENST00000594542.1_RNA|MYO18B_ENST00000407587.2_Silent_p.R1577R|CTA-125H2.2_ENST00000597548.1_RNA|CTA-125H2.2_ENST00000595102.1_RNA|CTA-125H2.2_ENST00000453457.2_RNA	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1576	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AACTGAAGAGGAAGTGCCACC	0.493000													9	47					0	0	0.004482	0	0
SLC22A6	9356	broad.mit.edu	37	11	62747245	62747245	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:62747245C>T	ENST00000377871.3	-	7	1479	c.1213G>A	c.(1213-1215)Gca>Aca	p.A405T	SLC22A6_ENST00000458333.2_Missense_Mutation_p.A405T|SLC22A6_ENST00000421062.2_Missense_Mutation_p.A405T|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A405T	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	405					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CAGATGCCTGCCAGCAGCAGT	0.612000													4	32					0	0	0.000602	0	0
SLC27A6	28965	broad.mit.edu	37	5	128351643	128351643	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:128351643G>A	ENST00000262462.4	+	5	2045	c.1035G>A	c.(1033-1035)tgG>tgA	p.W345*	SLC27A6_ENST00000506176.1_Nonsense_Mutation_p.W345*|SLC27A6_ENST00000395266.1_Nonsense_Mutation_p.W345*			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	345					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GTGATGTATGGAGAGAATTTT	0.368000													14	28					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179590258	179590258	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179590258C>T	ENST00000589042.1	-	71	20897	c.20673G>A	c.(20671-20673)aaG>aaA	p.K6891K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.K5647K|TTN_ENST00000591111.1_Silent_p.K6574K|RP11-171I2.1_ENST00000590024.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6574	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACTTCTTCCTTCTCTTTAA	0.438000													6	54					0	0	0.001984	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153270486	153270486	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:153270486G>A	ENST00000290722.1	-	7	1024	c.972C>T	c.(970-972)tcC>tcT	p.S324S		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	324					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGCCCAGGGGACAGGATGT	0.592000													61	162					0	0	0.003610	0	0
USP34	9736	broad.mit.edu	37	2	61575559	61575559	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:61575559A>C	ENST00000398571.2	-	15	1807	c.1731T>G	c.(1729-1731)agT>agG	p.S577R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	577					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TACCAGGACCACTGCTTCCAT	0.448000													15	167					0	0	0.001523	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609196	84609196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:84609196G>A	ENST00000344803.2	+	4	3858	c.3811G>A	c.(3811-3813)Gag>Aag	p.E1271K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		ACAGAAGCAGGAGCCCAGGGT	0.542000													7	60					0	0	0.001984	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125521687	125521687	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:125521687T>G	ENST00000431078.1	+	16	2857	c.2493T>G	c.(2491-2493)aaT>aaG	p.N831K		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	831	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCCTAGAAAATCTTGGCATTA	0.363000													7	78					0	0	0.006214	0	0
CCDC60	160777	broad.mit.edu	37	12	119978426	119978426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:119978426G>A	ENST00000327554.2	+	14	2024	c.1559G>A	c.(1558-1560)cGa>cAa	p.R520Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	520										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CAGTTTGTGCGAGAACACATC	0.512000													8	80					0	0	0.003080	0	0
GTF3C5	9328	broad.mit.edu	37	9	135927459	135927459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:135927459C>T	ENST00000372097.5	+	5	1104	c.781C>T	c.(781-783)Cgt>Tgt	p.R261C	GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R136C|GTF3C5_ENST00000372099.6_Missense_Mutation_p.R252C|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R261C	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	261						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GTTTGACATCCGTCCCATCTG	0.567000													7	29					0	0	0.004482	0	0
OTOGL	283310	broad.mit.edu	37	12	80714217	80714217	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:80714217C>T	ENST00000458043.2	+	33	3797	c.3791C>T	c.(3790-3792)tCc>tTc	p.S1264F	OTOGL_ENST00000547103.1_Missense_Mutation_p.S1264F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCACTTGTTTCCTTGGAATCT	0.403000													5	39					0	0	0.001984	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083466	107083466	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:107083466G>A	ENST00000455737.1	-	0	177																											TACTGATGGAGCCACCAGAGA	0.587000													16	40					0	0	0.002299	0	0
C11orf63	79864	broad.mit.edu	37	11	122795661	122795661	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:122795661G>A	ENST00000227349.2	+	4	1218	c.921G>A	c.(919-921)atG>atA	p.M307I	C11orf63_ENST00000531316.1_Missense_Mutation_p.M307I	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	307										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CCAAGGAAATGGAAAATGCTG	0.403000													16	42					0	0	0.008871	0	0
MYLK4	340156	broad.mit.edu	37	6	2685565	2685565	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:2685565G>A	ENST00000274643.7	-	6	852	c.510C>T	c.(508-510)ttC>ttT	p.F170F	MYLK4_ENST00000268446.5_Silent_p.F170F	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	170	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCTTAGACTCGAAGGCATCGT	0.562000													32	93					0	0	0.004289	0	0
SNHG14	104472715	broad.mit.edu	37	15	25324133	25324133	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:25324133C>T	ENST00000549804.2	+	0	1368																											CCGGTGGATCCCTTCATACGG	0.478000													6	21					0	0	0.001168	0	0
TRANK1	9881	broad.mit.edu	37	3	36898891	36898891	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36898891C>T	ENST00000301807.6	-	12	2437	c.540G>A	c.(538-540)ccG>ccA	p.P180P	TRANK1_ENST00000429976.2_Silent_p.P730P|TRANK1_ENST00000428977.2_Silent_p.P180P	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	730					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CACCCAGAGTCGGCTTGTCAT	0.577000													18	40					0	0	0.004990	0	0
ANKRD2	26287	broad.mit.edu	37	10	99343350	99343350	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:99343350G>A	ENST00000307518.5	+	9	1218	c.951G>A	c.(949-951)acG>acA	p.T317T	ANKRD2_ENST00000298808.5_Silent_p.T284T|ANKRD2_ENST00000370655.1_Silent_p.T290T|ANKRD2_ENST00000455090.1_Silent_p.T257T			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	317					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		AGACCCCGACGGACCTGGTGC	0.627000													3	8					0	0	0.000248	0	0
CCDC73	493860	broad.mit.edu	37	11	32635300	32635300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:32635300C>T	ENST00000335185.5	-	16	2607	c.2564G>A	c.(2563-2565)gGa>gAa	p.G855E		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	855										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GAACATTTTTCCTGAAACAAT	0.348000													12	78					0	0	0.000978	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791043	106791043	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:106791043G>A	ENST00000390613.2	-	0	392																											TCAGCTCTCAGGCTGTTCATT	0.507000													50	134					0	0	0.003610	0	0
FAM83C	128876	broad.mit.edu	37	20	33879675	33879675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:33879675G>A	ENST00000374408.3	-	1	529	c.433C>T	c.(433-435)Cag>Tag	p.Q145*		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	145										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACCACAGCCTGGGTGGGGCTG	0.622000													22	116					0	0	0.003330	0	0
MATN2	4147	broad.mit.edu	37	8	98943551	98943551	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:98943551G>A	ENST00000254898.5	+	3	744	c.513G>A	c.(511-513)ggG>ggA	p.G171G	MATN2_ENST00000524308.1_Silent_p.G171G|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000521689.1_Silent_p.G171G|MATN2_ENST00000520016.1_Silent_p.G171G	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	171	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGACAGATGGGAGACCTCAGG	0.582000													5	27					0	0	0.001984	0	0
OR10T2	128360	broad.mit.edu	37	1	158369054	158369054	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:158369054G>A	ENST00000334438.1	-	1	202	c.203C>T	c.(202-204)tCa>tTa	p.S68L		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CTCAGAAAATGAAAGGATGAA	0.502000													4	21					0	0	0.000248	0	0
UNC79	57578	broad.mit.edu	37	14	94120324	94120324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:94120324G>A	ENST00000553484.1	+	39	6572	c.6418G>A	c.(6418-6420)Gac>Aac	p.D2140N	UNC79_ENST00000256339.4_Missense_Mutation_p.D1941N|UNC79_ENST00000555664.1_Missense_Mutation_p.D2079N|UNC79_ENST00000393151.2_Missense_Mutation_p.D2118N			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2118						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTCTCTGATGGACTTCAATGA	0.512000													14	141					0	0	0.004007	0	0
CTTNBP2NL	55917	broad.mit.edu	37	1	112999065	112999065	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:112999065T>C	ENST00000271277.6	+	6	1176	c.951T>C	c.(949-951)ttT>ttC	p.F317F		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	317						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGAGAGTTTTCCAGCAGAAA	0.483000													36	102					0	0	0.003271	0	0
NALCN	259232	broad.mit.edu	37	13	101776979	101776979	+	Silent	SNP	G	G	A	rs79766279	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:101776979G>A	ENST00000251127.6	-	18	2253	c.2172C>T	c.(2170-2172)acC>acT	p.T724T		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	724						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGTGACTGCGGTCTCCTTTT	0.328000													9	56					0	0	0.002450	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130006	35130006	+	RNA	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:35130006T>G	ENST00000436258.1	-	0	3363																											TCTCTCCTACTTCTTTGGCAG	0.299000													9	112					0	0	0.006214	0	0
PHKB	5257	broad.mit.edu	37	16	47628101	47628101	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:47628101C>T	ENST00000455779.1	+	13	1344	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	PHKB_ENST00000299167.8_Missense_Mutation_p.P394S|PHKB_ENST00000323584.5_Missense_Mutation_p.P394S|PHKB_ENST00000566044.1_Missense_Mutation_p.P387S			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	394					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				TCTTTTGACTCCAGTACTTCA	0.318000													3	24					0	0	0.000248	0	0
GALNT10	55568	broad.mit.edu	37	5	153709196	153709196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:153709196G>A	ENST00000297107.6	+	4	603	c.466G>A	c.(466-468)Gag>Aag	p.E156K	SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000425427.2_Missense_Mutation_p.E156K|GALNT10_ENST00000377661.2_Missense_Mutation_p.E156K	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	156	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CTTCCACAACGAGGGCTGGTC	0.582000													22	36					0	0	0.002299	0	0
FLG	2312	broad.mit.edu	37	1	152281969	152281969	+	Missense_Mutation	SNP	C	C	T	rs141235242		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152281969C>T	ENST00000368799.1	-	3	5428	c.5393G>A	c.(5392-5394)cGa>cAa	p.R1798Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1798	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGCTGTCTCGTGCCTGCTC	0.597000									Ichthyosis				50	282					0	0	0.003610	0	0
TRPC7	57113	broad.mit.edu	37	5	135693067	135693067	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:135693067C>T	ENST00000513104.1	-	2	291	c.9G>A	c.(7-9)agG>agA	p.R3R	TRPC7_ENST00000355180.3_Silent_p.R3R|TRPC7_ENST00000426057.2_Silent_p.R3R	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	3					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGTGCTGTTCCTCAACCTAT	0.527000													12	24					0	0	0.001368	0	0
PKLR	5313	broad.mit.edu	37	1	155264143	155264143	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:155264143G>A	ENST00000392414.3	-	7	1019	c.906C>T	c.(904-906)atC>atT	p.I302I	PKLR_ENST00000342741.4_Silent_p.I333I	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	333					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GTGCCACCATGATGCCGTCGC	0.567000													6	22					0	0	0.001168	0	0
MALAT1	378938	broad.mit.edu	37	11	65266481	65266481	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:65266481C>T	ENST00000534336.1	+	0	1249					NR_002819.2																						GAGTTGTTCTCCGTCTATAAA	0.537000													19	73					0	0	0.002299	0	0
CMYA5	202333	broad.mit.edu	37	5	79031855	79031855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:79031855G>A	ENST00000446378.2	+	2	7298	c.7267G>A	c.(7267-7269)Gat>Aat	p.D2423N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2423						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)		CAGTTTAATTGATTTCAGTGA	0.353000													9	14					0	0	0.008291	0	0
BRD4	23476	broad.mit.edu	37	19	15350007	15350007	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15350007G>A	ENST00000263377.2	-	18	3866	c.3645C>T	c.(3643-3645)tcC>tcT	p.S1215S		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1215					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACTTGGCTGTGGAGGAGGGGG	0.627000			T	C15orf55	lethal midline carcinoma of young people								4	21					0	0	0.000248	0	0
RERE	473	broad.mit.edu	37	1	8416241	8416241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:8416241G>A	ENST00000337907.3	-	22	5039	c.4405C>T	c.(4405-4407)Ccc>Tcc	p.P1469S	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.P915S|RERE_ENST00000400908.2_Missense_Mutation_p.P1469S|RERE_ENST00000377464.1_Missense_Mutation_p.P1201S	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1469	Pro-rich.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGCGGGTAGGGGAAGCGAGCC	0.642000													5	60					0	0	0.003080	0	0
TAF1L	138474	broad.mit.edu	37	9	32630351	32630351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:32630351C>T	ENST00000242310.4	-	1	5316	c.5227G>A	c.(5227-5229)Gat>Aat	p.D1743N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1743					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.D1743Y(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTGCAAGATCACCATCTCCC	0.488000													20	104					0	0	0.001523	0	0
GLYATL2	219970	broad.mit.edu	37	11	58604580	58604580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:58604580C>T	ENST00000287275.1	-	5	774	c.384G>A	c.(382-384)atG>atA	p.M128I	GLYATL2_ENST00000533636.1_5'UTR|GLYATL2_ENST00000532258.1_Missense_Mutation_p.M128I	NM_145016.3	NP_659453.3	Q8WU03	GLYL2_HUMAN	glycine-N-acyltransferase-like 2	128						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	GGATGGTTTTCATGTAATCTA	0.388000													21	52					0	0	0.001523	0	0
DNAH7	56171	broad.mit.edu	37	2	196681677	196681677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:196681677C>T	ENST00000312428.6	-	51	9536	c.9436G>A	c.(9436-9438)Gaa>Aaa	p.E3146K		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3146	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.E3146K(1)		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						TCTTCTATTTCTTTTAACTGC	0.294000													5	18					0	0	0.000602	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982010	61982010	+	Silent	SNP	G	G	A	rs121912254		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:61982010G>A	ENST00000370263.4	-	5	974	c.753C>T	c.(751-753)atC>atT	p.I251I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	251					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGCAGGGGATGATGAGGTTGA	0.592000													5	42					0	0	0.001168	0	0
NIPAL2	79815	broad.mit.edu	37	8	99205236	99205236	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:99205236C>T	ENST00000430223.2	-	11	1320	c.1122G>A	c.(1120-1122)aaG>aaA	p.K374K	NIPAL2_ENST00000520545.1_5'UTR|NIPAL2_ENST00000341166.3_3'UTR			Q9H841	NPAL2_HUMAN	NIPA-like domain containing 2	0						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CACTTTGGCTCTTTGTTGAGT	0.383000													5	53					0	0	0.001168	0	0
ASXL3	80816	broad.mit.edu	37	18	31226315	31226315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:31226315G>A	ENST00000269197.5	+	4	353	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GAAGAAAATGGAGGTAAGTGT	0.388000													5	51					0	0	0.000602	0	0
SVEP1	79987	broad.mit.edu	37	9	113208295	113208295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:113208295C>T	ENST00000401783.2	-	26	4621	c.4285G>A	c.(4285-4287)Gat>Aat	p.D1429N	SVEP1_ENST00000374469.1_Missense_Mutation_p.D1406N|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1429N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1429					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTTCAAAATCCAGGTTAAAG	0.433000													5	9					0	0	0.001168	0	0
OR56A3	390083	broad.mit.edu	37	11	5968788	5968788	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5968788C>T	ENST00000329564.6	+	1	219	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCTCTCCCTGCTGGAC	0.602000													24	76					0	0	0.002780	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135883819	135883819	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:135883819C>T	ENST00000264158.8	+	10	942	c.899_splice	c.e10+1	p.S300_splice	RAB3GAP1_ENST00000539493.1_Splice_Site_p.S256_splice|RAB3GAP1_ENST00000442034.1_Splice_Site_p.S300_splice|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	300						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GATGTTTATTCGTAAGTATGT	0.294000													7	39					0	0	0.003080	0	0
FAM198B	51313	broad.mit.edu	37	4	159092232	159092232	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:159092232C>T	ENST00000296530.8	-	2	917	c.296G>A	c.(295-297)gGg>gAg	p.G99E	FAM198B_ENST00000592057.1_Missense_Mutation_p.G99E|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.G99E|FAM198B_ENST00000585682.1_Missense_Mutation_p.G99E	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	99						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CAGAGTGGACCCATTGCCCTG	0.622000													12	68					0	0	0.001368	0	0
ARNT	405	broad.mit.edu	37	1	150804340	150804340	+	Silent	SNP	G	G	A	rs146538917	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:150804340G>A	ENST00000358595.5	-	10	1109	c.909C>T	c.(907-909)ttC>ttT	p.F303F	ARNT_ENST00000354396.2_Silent_p.F303F|ARNT_ENST00000515192.1_Silent_p.F294F|ARNT_ENST00000505755.1_Silent_p.F288F|ARNT_ENST00000468970.1_5'UTR	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	303					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGACCACCACGAAGTGAGGTT	0.448000			T	ETV6	AML								22	48					0	0	0.004656	0	0
PTAFR	5724	broad.mit.edu	37	1	28477268	28477268	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:28477268G>A	ENST00000373857.3	-	2	899	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	PTAFR_ENST00000305392.3_Silent_p.L89L|PTAFR_ENST00000539896.1_Silent_p.L89L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	89					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGTTGCACAGGAATTTGGGG	0.527000													9	40					0	0	0.006214	0	0
GPR179	440435	broad.mit.edu	37	17	36486212	36486212	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:36486212C>T	ENST00000342292.4	-	11	3260	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1080						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGGAACCCTGCTGAACAGGGG	0.582000													12	42					0	0	0.002450	0	0
PTPN14	5784	broad.mit.edu	37	1	214557398	214557398	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:214557398C>T	ENST00000366956.5	-	13	1994	c.1800G>A	c.(1798-1800)cgG>cgA	p.R600R	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	600					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GCTGCACCTTCCGGGTCACCA	0.672000													9	41					0	0	0.004482	0	0
PPIP5K2	23262	broad.mit.edu	37	5	102469317	102469317	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:102469317C>T	ENST00000321521.9	+	3	848	c.275C>T	c.(274-276)cCt>cTt	p.P92L	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P92L|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P92L			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	92					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAAAACTGGCCTTTATGTGAT	0.333000													21	32					0	0	0.003954	0	0
CSMD2	114784	broad.mit.edu	37	1	34112404	34112404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:34112404G>A	ENST00000373381.4	-	29	4794	c.4618C>T	c.(4618-4620)Cat>Tat	p.H1540Y	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.H413Y	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1500	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCGTAGATATGGAGGAAGTCA	0.547000													5	18					0	0	0.000602	0	0
C1QTNF9	338872	broad.mit.edu	37	13	24895823	24895823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:24895823G>T	ENST00000382071.2	+	4	1004	c.919G>T	c.(919-921)Gga>Tga	p.G307*	C1QTNF9_ENST00000332018.4_Nonsense_Mutation_p.G307*			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	307	C1q.					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)		GCAGGTGACAGGAGGAGAGAG	0.532000													7	54					0.00448238	0.00506421	0.004482	1	0
ALDH1A2	8854	broad.mit.edu	37	15	58287308	58287308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:58287308C>T	ENST00000249750.4	-	5	1290	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	ALDH1A2_ENST00000558231.1_Missense_Mutation_p.E146K|ALDH1A2_ENST00000347587.3_Missense_Mutation_p.E175K|ALDH1A2_ENST00000559517.1_Missense_Mutation_p.E79K|ALDH1A2_ENST00000537372.1_Missense_Mutation_p.E154K	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	175					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAATGGGTTCATGTCTTGTA	0.383000													23	80					0	0	0.006320	0	0
ABI1	10006	broad.mit.edu	37	10	27149684	27149684	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:27149684A>G	ENST00000355394.4	-	1	332	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	ABI1_ENST00000346832.5_Missense_Mutation_p.Y37H|ABI1_ENST00000490841.2_Missense_Mutation_p.Y37H|ABI1_ENST00000376140.3_Missense_Mutation_p.Y37H|ABI1_ENST00000536334.1_Missense_Mutation_p.Y37H|ABI1_ENST00000376166.1_Missense_Mutation_p.Y37H|ABI1_ENST00000376134.3_Missense_Mutation_p.Y37H|ABI1_ENST00000376170.4_Missense_Mutation_p.Y37H|ABI1_ENST00000359188.4_Missense_Mutation_p.Y37H|ABI1_ENST00000376137.4_Missense_Mutation_p.Y37H|ABI1_ENST00000376139.2_Missense_Mutation_p.Y37H|ABI1_ENST00000376138.3_Missense_Mutation_p.Y37H|ABI1_ENST00000376160.1_Missense_Mutation_p.Y37H|ABI1_ENST00000376142.2_Missense_Mutation_p.Y37H			Q8IZP0	ABI1_HUMAN	abl-interactor 1	37	Required for binding to WASF1 (By similarity).				actin polymerization or depolymerization|cellular component movement|negative regulation of cell proliferation|peptidyl-tyrosine phosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	cell junction|cytoskeleton|cytosol|endoplasmic reticulum|filopodium|growth cone|lamellipodium|nucleus|soluble fraction|synapse|synaptosome	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ACCTGTATGTAGTTGTTTTCA	0.642000													15	37					0	0	0.006122	0	0
NUP210L	91181	broad.mit.edu	37	1	154031059	154031059	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:154031059C>T	ENST00000368559.3	-	21	3032	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	NUP210L_ENST00000271854.3_Silent_p.E987E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	987						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCAGATCAAGCTCCAGCTCTT	0.418000													8	45					0	0	0.006214	0	0
VPS13D	55187	broad.mit.edu	37	1	12321145	12321145	+	Silent	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:12321145G>T	ENST00000358136.3	+	12	1483	c.1353G>T	c.(1351-1353)ggG>ggT	p.G451G	VPS13D_ENST00000356315.4_Silent_p.G451G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	451					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)		CCCCAGAAGGGAATGTGGTTG	0.577000													41	139					2.46787e-29	2.83831e-29	0.003610	1	0
RRP9	9136	broad.mit.edu	37	3	51969657	51969657	+	Missense_Mutation	SNP	G	G	A	rs140029162	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:51969657G>A	ENST00000232888.6	-	9	860	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	263					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		TTCACGGAGCGATCGTGGGAT	0.602000													13	32					0	0	0.002450	0	0
FAM221B	392307	broad.mit.edu	37	9	35819900	35819900	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:35819900G>A	ENST00000423537.2	-	4	1109	c.840C>T	c.(838-840)caC>caT	p.H280H	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	280										endometrium(2)|kidney(1)|lung(4)	7						AGATGATCCGGTGCTCTCTCA	0.522000													5	34					0	0	0.001984	0	0
KCNK18	338567	broad.mit.edu	37	10	118969539	118969539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:118969539C>T	ENST00000334549.1	+	3	884	c.884C>T	c.(883-885)tCc>tTc	p.S295F		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	295						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GCCTACATTTCCTGTGCAGCT	0.498000													22	76					0	0	0.003330	0	0
PUS3	83480	broad.mit.edu	37	11	125766075	125766075	+	Silent	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:125766075A>G	ENST00000227474.3	-	2	202	c.105T>C	c.(103-105)aaT>aaC	p.N35N	HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|HYLS1_ENST00000425380.2_Intron|PUS3_ENST00000530811.1_Silent_p.N35N	NM_001271985.1|NM_031307.3	NP_001258914.1|NP_112597.3	Q9BZE2	PUS3_HUMAN	pseudouridylate synthase 3	35						nucleus	RNA binding			NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043)		AGTCCTCCTTATTTTTGGCCT	0.423000													16	92					0	0	0.004990	0	0
HMCN1	83872	broad.mit.edu	37	1	185986189	185986189	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:185986189C>T	ENST00000271588.4	+	33	5515	c.5286C>T	c.(5284-5286)ccC>ccT	p.P1762P	HMCN1_ENST00000367492.2_Silent_p.P1762P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1762	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGCTCTCCCCCACCAACTA	0.393000													7	56					0	0	0.001984	0	0
ADAM28	10863	broad.mit.edu	37	8	24199165	24199165	+	Nonsense_Mutation	SNP	G	G	A	rs141747646		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:24199165G>A	ENST00000265769.4	+	16	1835	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Nonsense_Mutation_p.W322*|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	575	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATTTGCCCTGGAAAGGACGGA	0.423000													15	130					0	0	0.003163	0	0
CRB1	23418	broad.mit.edu	37	1	197313472	197313472	+	Silent	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:197313472T>G	ENST00000367400.3	+	3	849	c.714T>G	c.(712-714)acT>acG	p.T238T	CRB1_ENST00000535699.1_Silent_p.T169T|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.T238T	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	238	EGF-like 6; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ATGGTGCAACTTGTCAGGATG	0.448000													23	136					0	0	0.003954	0	0
BAG4	9530	broad.mit.edu	37	8	38067591	38067591	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:38067591C>T	ENST00000287322.4	+	5	1225	c.954C>T	c.(952-954)gtC>gtT	p.V318V	BAG4_ENST00000432471.2_Silent_p.V282V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	318					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				CTTGCAGTGTCCATCAGTACG	0.463000													12	71					0	0	0.001368	0	0
MDGA1	266727	broad.mit.edu	37	6	37606050	37606050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:37606050C>T	ENST00000434837.2	-	16	3885	c.2707G>A	c.(2707-2709)Gat>Aat	p.D903N	MDGA1_ENST00000297153.7_Missense_Mutation_p.D907N|MDGA1_ENST00000505425.1_Missense_Mutation_p.D903N	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	903	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						ATGGCAATATCCCCCAGGTAG	0.572000													7	25					0	0	0.006214	0	0
SPHKAP	80309	broad.mit.edu	37	2	228886639	228886639	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:228886639C>T	ENST00000392056.3	-	6	531	c.485G>A	c.(484-486)gGg>gAg	p.G162E	SPHKAP_ENST00000344657.5_Missense_Mutation_p.G162E	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	162						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGGTCTGTTCCCTCTTGCACA	0.433000													5	21					0	0	0.000602	0	0
LCT	3938	broad.mit.edu	37	2	136594497	136594497	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:136594497G>A	ENST00000264162.2	-	1	253	c.243C>T	c.(241-243)gcC>gcT	p.A81A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	81					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TGATCTGACTGGCATGGAGAC	0.507000													12	42					0	0	0.001855	0	0
MTMR8	55613	broad.mit.edu	37	X	63557176	63557176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:63557176G>A	ENST00000374852.3	-	9	1140	c.1073C>T	c.(1072-1074)cCa>cTa	p.P358L	MTMR8_ENST00000453546.1_Missense_Mutation_p.P358L|MTMR8_ENST00000478487.1_5'UTR	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	358	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCTATAAAATGGATCTAGGAG	0.423000													5	10					0	0	0.001168	0	0
FAT3	120114	broad.mit.edu	37	11	92086811	92086811	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:92086811C>T	ENST00000298047.6	+	1	1550	c.1533C>T	c.(1531-1533)atC>atT	p.I511I	FAT3_ENST00000541502.1_Silent_p.I511I|FAT3_ENST00000409404.2_Silent_p.I511I|FAT3_ENST00000525166.1_Silent_p.I361I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	511	Cadherin 5.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTATAGTATCGCTAGCCTGA	0.383000										TCGA Ovarian(4;0.039)			106	271					0	0	0.003610	0	0
CHD6	84181	broad.mit.edu	37	20	40053932	40053932	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40053932T>C	ENST00000373233.3	-	29	4409	c.4232A>G	c.(4231-4233)aAg>aGg	p.K1411R		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1411					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCACAGTTCCTTGCGGTTGCA	0.547000													7	49					0	0	0.001984	0	0
MYO18B	84700	broad.mit.edu	37	22	26423285	26423285	+	Missense_Mutation	SNP	C	C	T	rs149103381	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:26423285C>T	ENST00000335473.7	+	43	7595	c.7345C>T	c.(7345-7347)Cgg>Tgg	p.R2449W	MYO18B_ENST00000536101.1_Missense_Mutation_p.R2449W|MYO18B_ENST00000407587.2_Missense_Mutation_p.R2450W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2449						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCCAGCTATCCGGAAGCCCCA	0.552000													10	82					0	0	0.008291	0	0
SEMA4G	57715	broad.mit.edu	37	10	102740344	102740344	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:102740344G>A	ENST00000210633.3	+	11	1439	c.1361G>A	c.(1360-1362)tGg>tAg	p.W454*	RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Nonsense_Mutation_p.W454*|SEMA4G_ENST00000370250.4_Nonsense_Mutation_p.W454*|MRPL43_ENST00000318325.2_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	454	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCTGATGGCTGGATCCACAAG	0.512000													8	51					0	0	0.006214	0	0
ABI3BP	25890	broad.mit.edu	37	3	100595388	100595388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:100595388C>T	ENST00000471714.1	-	7	843	c.734G>A	c.(733-735)aGg>aAg	p.R245K	ABI3BP_ENST00000495063.1_Missense_Mutation_p.R245K|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R245K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	245						extracellular space		p.R245T(2)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GATTAGTTTCCTTGGGACATA	0.363000													7	51					0	0	0.003080	0	0
MROH2B	133558	broad.mit.edu	37	5	41061746	41061746	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:41061746G>A	ENST00000399564.4	-	6	991	c.541C>T	c.(541-543)Cga>Tga	p.R181*		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TCAGACAGTCGGTTGGCATCC	0.483000													20	107					0	0	0.001523	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022436	73022436	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:73022436T>C	ENST00000263674.3	+	1	3103	c.2753T>C	c.(2752-2754)aTc>aCc	p.I918T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	918					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCGAGGCTAATCCGCCGAGGC	0.637000													14	53					0	0	0.002450	0	0
SPG11	80208	broad.mit.edu	37	15	44944342	44944342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:44944342G>A	ENST00000261866.7	-	5	1008	c.992C>T	c.(991-993)tCc>tTc	p.S331F	SPG11_ENST00000559193.1_Missense_Mutation_p.S331F|SPG11_ENST00000558319.1_Missense_Mutation_p.S331F|SPG11_ENST00000535302.2_Missense_Mutation_p.S331F|SPG11_ENST00000427534.2_Missense_Mutation_p.S331F	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	331					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AATTTGGAAGGAAAACTTGGC	0.358000													16	37					0	0	0.006122	0	0
CUX1	1523	broad.mit.edu	37	7	101918629	101918629	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:101918629C>T	ENST00000437600.4	+	17	1908	c.1557_splice	c.e17+1	p.A519_splice	CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Splice_Site_p.A475_splice|CUX1_ENST00000393824.3_Splice_Site_p.A482_splice|CUX1_ENST00000292538.4_Splice_Site_p.A521_splice|CUX1_ENST00000547394.2_Splice_Site_p.A505_splice	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	333					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GAGCTTGAGGCCGTGAGTCAC	0.602000													10	27					0	0	0.006214	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130648991	130648991	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:130648991G>A	ENST00000373146.1	-	7	1068	c.889C>T	c.(889-891)Cag>Tag	p.Q297*	ST6GALNAC6_ENST00000373142.1_Silent_p.S295S|ST6GALNAC6_ENST00000291839.5_Nonsense_Mutation_p.Q297*|RP11-203J24.9_ENST00000476274.2_RNA|ST6GALNAC6_ENST00000373141.1_Nonsense_Mutation_p.Q263*|ST6GALNAC6_ENST00000373144.3_Nonsense_Mutation_p.Q263*|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_Nonsense_Mutation_p.Q97*			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	297					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCTCATTCTGGATGTAGGTG	0.617000													15	55					0	0	0.003163	0	0
MOV10L1	54456	broad.mit.edu	37	22	50537973	50537973	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:50537973G>A	ENST00000262794.5	+	3	467	c.384G>A	c.(382-384)gtG>gtA	p.V128V	MOV10L1_ENST00000395858.3_Silent_p.V128V|MOV10L1_ENST00000545383.1_Silent_p.V128V|MOV10L1_ENST00000540615.1_Silent_p.V108V|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000475190.1_3'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	128					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CTTCCCTGGTGGAGGGCGCAG	0.527000													8	45					0	0	0.004482	0	0
LHCGR	3973	broad.mit.edu	37	2	48950671	48950671	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:48950671C>T	ENST00000294954.7	-	6	481	c.458_splice	c.e6-1	p.E154_splice	LHCGR_ENST00000401907.1_Splice_Site_p.E154_splice|LHCGR_ENST00000344775.3_Splice_Site_p.E154_splice|LHCGR_ENST00000405626.1_Splice_Site_p.E154_splice|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000403273.1_Splice_Site_p.E154_splice	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	154					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCACAAATTTCCCTTGAGGAA	0.338000													33	20					0	0	0.002836	0	0
SREBF2	6721	broad.mit.edu	37	22	42273334	42273334	+	Silent	SNP	C	C	T	rs146289041		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:42273334C>T	ENST00000361204.4	+	8	1654	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	496					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCTTTAACCCCCTGACTTCCC	0.597000													12	90					0	0	0.001368	0	0
IFNA10	3446	broad.mit.edu	37	9	21206918	21206918	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:21206918C>T	ENST00000357374.2	-	1	224	c.179G>A	c.(178-180)cGa>cAa	p.R60Q		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTGGGGGATTCGGAAATCATG	0.517000													32	84					0	0	0.004289	0	0
HEATR5A	25938	broad.mit.edu	37	14	31827966	31827966	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:31827966G>A	ENST00000543095.2	-	16	2472	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	HEATR5A_ENST00000439348.1_Missense_Mutation_p.S757L|HEATR5A_ENST00000404677.3_Missense_Mutation_p.S763L|HEATR5A_ENST00000389961.3_Missense_Mutation_p.S757L|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S470L	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	757							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CTCATAAATCGAATAAGGGTC	0.403000													20	58					0	0	0.008871	0	0
PPP2CA	5515	broad.mit.edu	37	5	133541810	133541810	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:133541810G>A	ENST00000481195.1	-	2	395	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	CDKL3_ENST00000518409.1_5'UTR|PPP2CA_ENST00000231504.5_5'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCTTTTGTCAGGATTTCTTTA	0.363000													13	30					0	0	0.001855	0	0
THADA	63892	broad.mit.edu	37	2	43726031	43726031	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:43726031G>A	ENST00000405006.4	-	25	4036	c.3685C>T	c.(3685-3687)Cct>Tct	p.P1229S	THADA_ENST00000415080.2_Missense_Mutation_p.P939S|THADA_ENST00000330266.7_Missense_Mutation_p.P939S|THADA_ENST00000405975.2_Missense_Mutation_p.P1229S	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1229							binding			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)				GCAACATAAGGAATAATATTT	0.373000													31	180					0	0	0.002445	0	0
IGHV3OR15-7	28318	broad.mit.edu	37	15	20193368	20193368	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:20193368C>T	ENST00000558565.2	-	0	2																											GCCCAAACTCCATGGTGAGCC	0.512000													16	68					0	0	0.004990	0	0
MUC20	200958	broad.mit.edu	37	3	195453126	195453126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:195453126C>T	ENST00000320736.6	+	3	1265	c.1139C>T	c.(1138-1140)cCg>cTg	p.P380L	MUC20_ENST00000436408.1_Missense_Mutation_p.P551L|MUC20_ENST00000447234.2_Missense_Mutation_p.P551L|MUC20_ENST00000445522.2_Missense_Mutation_p.P516L	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	551	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		GGAGCAGCTCCGGTCTCCATA	0.552000													7	35					0	0	0.001984	0	0
C4orf50	389197	broad.mit.edu	37	4	5966754	5966754	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:5966754C>T	ENST00000531445.1	-	6	2044	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	C4orf50_ENST00000324058.5_Silent_p.L192L			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	192										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						TTCTCACCTTCAGAGAATCCA	0.463000													5	49					0	0	0.000602	0	0
PLCE1	51196	broad.mit.edu	37	10	96018889	96018889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:96018889G>A	ENST00000260766.3	+	13	4430	c.3796G>A	c.(3796-3798)Gat>Aat	p.D1266N	PLCE1_ENST00000371375.1_Missense_Mutation_p.D958N|PLCE1_ENST00000371380.2_Missense_Mutation_p.D1266N|PLCE1_ENST00000371385.3_Missense_Mutation_p.D958N	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1266					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AAACACCAGCGATCTTCAGCC	0.468000													11	83					0	0	0.001368	0	0
CCDC148	130940	broad.mit.edu	37	2	159035451	159035451	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:159035451G>A	ENST00000283233.5	-	12	1741	c.1428C>T	c.(1426-1428)gcC>gcT	p.A476A	CCDC148_ENST00000409187.1_Silent_p.A485A|CCDC148-AS1_ENST00000412781.2_RNA	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	476										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGAAGGGCCACTTCCT	0.378000													12	37					0	0	0.001368	0	0
FLG2	388698	broad.mit.edu	37	1	152329471	152329471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152329471C>T	ENST00000388718.5	-	3	863	c.791G>A	c.(790-792)gGg>gAg	p.G264E	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	264	Ser-rich.						calcium ion binding|structural molecule activity			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)			ACAGCTAGACCCAAGCTTTTG	0.458000													22	76					0	0	0.001523	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125856685	125856685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:125856685C>T	ENST00000393434.2	-	10	1544	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.D399N|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.D298N|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.D399N|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.D409N	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	399					10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	p.D399N(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCCTCCTCATCGTCCCCTCGC	0.557000													11	32					0	0	0.008291	0	0
FAM83B	222584	broad.mit.edu	37	6	54735063	54735063	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:54735063C>T	ENST00000306858.7	+	2	135	c.19C>T	c.(19-21)Ctt>Ttt	p.L7F		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	7										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTCATCAATGCTTTCCTCATT	0.398000													8	44					0	0	0.003080	0	0
ERAP2	64167	broad.mit.edu	37	5	96248423	96248423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:96248423G>A	ENST00000437043.3	+	16	3148	c.2437G>A	c.(2437-2439)Gaa>Aaa	p.E813K	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.E768K	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	813					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGAGCAATATGAACTGTCAAT	0.343000													17	28					0	0	0.004007	0	0
ARL9	132946	broad.mit.edu	37	4	57389936	57389936	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:57389936A>G	ENST00000360096.2	+	4	580	c.266A>G	c.(265-267)aAg>aGg	p.K89R		NM_206919.1	NP_996802.1	Q6T311	ARL9_HUMAN	ADP-ribosylation factor-like 9	153							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					AATGACAGGAAGATGTTCTTG	0.448000													8	31					0	0	0.004482	0	0
BSN	8927	broad.mit.edu	37	3	49689107	49689107	+	Silent	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:49689107A>G	ENST00000296452.4	+	5	2232	c.2118A>G	c.(2116-2118)gaA>gaG	p.E706E		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	706					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGGAGGTGGAACAGCTGGACA	0.632000													12	63					0	0	0.001368	0	0
DLX4	1748	broad.mit.edu	37	17	48050430	48050430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:48050430C>T	ENST00000411890.2	+	1	301	c.61C>T	c.(61-63)Cca>Tca	p.P21S	DLX4_ENST00000240306.3_Intron|DLX4_ENST00000503410.1_Intron	NM_001934.3	NP_001925.2	Q92988	DLX4_HUMAN	distal-less homeobox 4	85				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9).	multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTTGTGCTGCCCACCAGACTC	0.637000													4	32					0	0	0.000248	0	0
POU4F3	5459	broad.mit.edu	37	5	145719426	145719426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:145719426C>T	ENST00000230732.4	+	2	525	c.436C>T	c.(436-438)Cca>Tca	p.P146S	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	146					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAGATCCATCCACACCACCT	0.677000													14	23					0	0	0.002450	0	0
MAGI2	9863	broad.mit.edu	37	7	78130895	78130895	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:78130895C>T	ENST00000354212.4	-	5	1217	c.965_splice	c.e5+1	p.D322_splice	MAGI2_ENST00000419488.1_Splice_Site_p.D322_splice|MAGI2_ENST00000536571.1_Splice_Site_p.D154_splice|MAGI2_ENST00000522391.1_Splice_Site_p.D322_splice|MAGI2_ENST00000535697.1_Splice_Site_p.D159_splice	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	322	Interaction with DDN.|WW 1.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAAACTCACTCAATGAAGTAG	0.388000													15	67					0	0	0.004990	0	0
TBRG4	9238	broad.mit.edu	37	7	45143016	45143016	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:45143016G>A	ENST00000258770.3	-	6	1213	c.1092C>T	c.(1090-1092)atC>atT	p.I364I	TBRG4_ENST00000395655.4_Silent_p.I254I|TBRG4_ENST00000494076.1_Silent_p.I364I|TBRG4_ENST00000361278.3_Silent_p.I254I	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	364					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						GGGGCAGGGTGATGTCCTGCG	0.582000													3	10					0	0	0.004672	0	0
MAPK13	5603	broad.mit.edu	37	6	36106539	36106539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:36106539C>T	ENST00000211287.4	+	10	1085	c.823C>T	c.(823-825)Cca>Tca	p.P275S	MAPK13_ENST00000373759.1_Missense_Mutation_p.P146L|MAPK13_ENST00000373761.6_Missense_Mutation_p.P265S|MAPK13_ENST00000373766.5_Missense_Mutation_p.P224L	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	275	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						TCAGCTGTTCCCACGGGCCAG	0.627000													6	33					0	0	0.001984	0	0
INSR	3643	broad.mit.edu	37	19	7143027	7143027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:7143027G>A	ENST00000341500.5	-	11	2345	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	INSR_ENST00000302850.5_Missense_Mutation_p.P781L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	781	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAAGTGTTGGGGAAAGCTGC	0.597000													16	123					0	0	0.003163	0	0
MCTP2	55784	broad.mit.edu	37	15	95022241	95022241	+	Missense_Mutation	SNP	G	G	A	rs141407505	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:95022241G>A	ENST00000357742.4	+	22	2615	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	MCTP2_ENST00000449432.3_3'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R817Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	872					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGCCCCCTGCGGAAGAAGCGC	0.522000													4	14					0	0	0.001168	0	0
FAM135B	51059	broad.mit.edu	37	8	139277969	139277969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:139277969G>A	ENST00000395297.1	-	4	444	c.274C>T	c.(274-276)Cat>Tat	p.H92Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	92										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AAGAGTAAATGAACTCGGAAG	0.473000										HNSCC(54;0.14)			7	30					0	0	0.001984	0	0
PCNXL2	80003	broad.mit.edu	37	1	233231501	233231501	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:233231501G>A	ENST00000258229.8	-	22	4180	c.3946_splice	c.e22+1	p.H1316_splice		NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1316						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GAAAGGATACGAGGAATGGCA	0.443000													4	5					0	0	0.000248	0	0
CCDC60	160777	broad.mit.edu	37	12	119960774	119960774	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:119960774C>T	ENST00000327554.2	+	10	1536	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	357										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTGCAGAAAGCCACATCCAAC	0.488000													19	112					0	0	0.008871	0	0
OR2A5	393046	broad.mit.edu	37	7	143748186	143748186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143748186G>A	ENST00000408906.2	+	1	726	c.692G>A	c.(691-693)gGg>gAg	p.G231E		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					ATCCAGTCTGGGGAGGGCCGC	0.602000													26	90					0	0	0.005443	0	0
LRRC8A	56262	broad.mit.edu	37	9	131670623	131670623	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:131670623C>T	ENST00000259324.5	+	3	1703	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	LRRC8A_ENST00000372599.3_Silent_p.L394L|LRRC8A_ENST00000372600.4_Silent_p.L394L	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	394					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CGCCGTCTTCCTGTCGGAGGT	0.587000													8	52					0	0	0.006214	0	0
AMPH	273	broad.mit.edu	37	7	38424484	38424484	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:38424484G>A	ENST00000356264.2	-	21	2238	c.2023C>T	c.(2023-2025)Cag>Tag	p.Q675*	AMPH_ENST00000428293.2_Nonsense_Mutation_p.Q633*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.Q633*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	675	SH3.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCTCTGTACTGAAGCCAGTCT	0.498000													25	76					0	0	0.003330	0	0
LDB2	9079	broad.mit.edu	37	4	16760876	16760876	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:16760876T>G	ENST00000502640.1	-	2	288	c.140A>C	c.(139-141)gAc>gCc	p.D47A	LDB2_ENST00000515064.1_Missense_Mutation_p.D47A|LDB2_ENST00000304523.5_Missense_Mutation_p.D47A|LDB2_ENST00000441778.2_Missense_Mutation_p.D47A			O43679	LDB2_HUMAN	LIM domain binding 2	47							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CCAGAGGTTGTCACTATCCTG	0.408000													6	25					0	0	0.001984	0	0
ITGA4	3676	broad.mit.edu	37	2	182396419	182396419	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:182396419C>T	ENST00000397033.2	+	25	3130	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	900					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.F900L(2)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTTTAAATTTCTTGTGTAATT	0.308000													16	67					0	0	0.004007	0	0
COL19A1	1310	broad.mit.edu	37	6	70639420	70639420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:70639420C>T	ENST00000322773.4	+	6	596	c.494C>T	c.(493-495)cCt>cTt	p.P165L		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	165	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P165F(1)|p.P165L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAACTCCGTCCTTTGTTTGAT	0.393000													21	36					0	0	0.001882	0	0
TTC18	118491	broad.mit.edu	37	10	75072273	75072273	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:75072273C>T	ENST00000310715.3	-	11	1371	c.1251G>A	c.(1249-1251)gtG>gtA	p.V417V	TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.V417V|TTC18_ENST00000394865.1_Silent_p.V417V	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	417							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CCTTTTCTTTCACTGGTTTAT	0.383000													8	65					0	0	0.006214	0	0
FRS3	10817	broad.mit.edu	37	6	41743249	41743249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:41743249G>A	ENST00000373018.3	-	4	412	c.161C>T	c.(160-162)gCc>gTc	p.A54V	FRS3_ENST00000259748.2_Missense_Mutation_p.A54V	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	54	IRS-type PTB.				fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGCGGACGGCCTCACGCCG	0.612000													5	28					0	0	0.000602	0	0
USP22	23326	broad.mit.edu	37	17	20921333	20921333	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:20921333G>A	ENST00000261497.4	-	5	815	c.612C>T	c.(610-612)ttC>ttT	p.F204F	USP22_ENST00000537526.2_Silent_p.F192F|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	204					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TGTCAGACAGGAAGAAGTCCC	0.572000													19	49					0	0	0.007413	0	0
MAGEB16	139604	broad.mit.edu	37	X	35820810	35820810	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:35820810T>G	ENST00000399989.1	+	2	776	c.497T>G	c.(496-498)tTt>tGt	p.F166C	MAGEB16_ENST00000399987.1_Missense_Mutation_p.F166C|MAGEB16_ENST00000399985.1_Missense_Mutation_p.F166C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.F166C|MAGEB16_ENST00000399992.1_Missense_Mutation_p.F198C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	166	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGATGATATTTGGCCTTGAT	0.478000													10	24					0	0	0.001368	0	0
GRIP1	23426	broad.mit.edu	37	12	66923614	66923614	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:66923614G>A	ENST00000359742.4	-	5	739	c.499C>T	c.(499-501)Cga>Tga	p.R167*	GRIP1_ENST00000398016.3_Nonsense_Mutation_p.R167*|GRIP1_ENST00000286445.7_Nonsense_Mutation_p.R167*			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	167	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACCTACCTCGAATTACAAAA	0.343000													11	48					0	0	0.001368	0	0
COL4A4	1286	broad.mit.edu	37	2	227945193	227945193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:227945193C>T	ENST00000396625.3	-	24	1976	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G590E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	590	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCCAGCATGTCCATCCCGACC	0.448000													20	81					0	0	0.003330	0	0
TMEM161A	54929	broad.mit.edu	37	19	19240968	19240968	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:19240968G>A	ENST00000162044.9	-	6	656	c.592C>T	c.(592-594)Cct>Tct	p.P198S	TMEM161A_ENST00000587583.2_Missense_Mutation_p.P173S|TMEM161A_ENST00000450333.2_Intron	NM_017814.2	NP_060284.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	198					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CACTTACCAGGCTCCAGGCCC	0.617000													6	18					0	0	0.001168	0	0
PSMB1	5689	broad.mit.edu	37	6	170852708	170852708	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:170852708G>A	ENST00000262193.6	-	4	512	c.414C>T	c.(412-414)atC>atT	p.I138I	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	138					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	CAAGTCCACCGATGATGTTGT	0.418000													13	35					0	0	0.001855	0	0
SNX7	51375	broad.mit.edu	37	1	99164352	99164352	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:99164352C>A	ENST00000370189.5	+	7	1101	c.737C>A	c.(736-738)gCc>gAc	p.A246D	SNX7_ENST00000529992.1_Missense_Mutation_p.A255D|SNX7_ENST00000306121.3_Missense_Mutation_p.A310D			Q9UNH6	SNX7_HUMAN	sorting nexin 7	246					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AAGGATGTTGCCAGCTGCATT	0.418000													18	40					3.99206e-14	4.57196e-14	0.007413	1	0
TGM2	7052	broad.mit.edu	37	20	36789988	36789988	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:36789988C>T	ENST00000361475.2	-	2	197	c.24G>A	c.(22-24)gaG>gaA	p.E8E	TGM2_ENST00000536701.1_Silent_p.E8E|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	8					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GATCACACCTCTCTAAGACCA	0.622000													19	63					0	0	0.001523	0	0
NBEAL1	65065	broad.mit.edu	37	2	203948235	203948235	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:203948235G>T	ENST00000449802.1	+	9	1311	c.978G>T	c.(976-978)caG>caT	p.Q326H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	326							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TTGCTCTACAGATCAAAATGC	0.323000													62	176					3.7469e-33	4.31389e-33	0.003610	1	0
BCL11A	53335	broad.mit.edu	37	2	60687932	60687932	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:60687932C>T	ENST00000335712.6	-	4	2342	c.2115G>A	c.(2113-2115)gaG>gaA	p.E705E	BCL11A_ENST00000537768.1_Silent_p.E374E|BCL11A_ENST00000356842.4_Silent_p.E705E|BCL11A_ENST00000538214.1_Silent_p.E671E|BCL11A_ENST00000358510.4_Silent_p.E671E|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	705					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCGTCCAGCTCCCCGGGCG	0.652000			T	IGH@	B-CLL								106	140					0	0	0.003610	0	0
FREM2	341640	broad.mit.edu	37	13	39422804	39422804	+	Missense_Mutation	SNP	G	G	A	rs143509403		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:39422804G>A	ENST00000280481.7	+	8	6592	c.6376G>A	c.(6376-6378)Gat>Aat	p.D2126N	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2126	Calx-beta 4.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTCTGTCTCCGATTGTGAGTG	0.358000													3	10					0	0	0.000248	0	0
KRT38	8687	broad.mit.edu	37	17	39594742	39594742	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:39594742C>T	ENST00000246646.3	-	5	1020		c.e5+1			NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38							intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGACACGTACCAAGGTGTGC	0.567000													11	36					0	0	0.002450	0	0
GFPT2	9945	broad.mit.edu	37	5	179728600	179728600	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:179728600G>A	ENST00000253778.8	-	19	2182	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	671	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GATTTCTGGGGAAGTCAACCT	0.453000													24	61					0	0	0.003954	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51645996	51645996	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:51645996C>T	ENST00000317643.6	+	1	439	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	SIGLEC7_ENST00000600577.1_Missense_Mutation_p.R124C|SIGLEC7_ENST00000305628.7_Missense_Mutation_p.R124C	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	124					cell adhesion	integral to plasma membrane	receptor activity|sugar binding	p.R124C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		ATACTTCTTTCGTATGGAGAA	0.478000													9	51					0	0	0.004482	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044208	90044208	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:90044208C>T	ENST00000462693.1	+	0	159																											CCATCTCCTTCAGGTCTAGTC	0.507000													145	87					0	0	0.003610	0	0
DNAH11	8701	broad.mit.edu	37	7	21747388	21747388	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:21747388A>C	ENST00000328843.6	+	41	6670	c.6639A>C	c.(6637-6639)aaA>aaC	p.K2213N	DNAH11_ENST00000409508.3_Missense_Mutation_p.K2206N			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2213	AAA 2 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAACCCTAAAGCTGTGACAA	0.393000									Kartagener syndrome				7	31					0	0	0.001984	0	0
WFDC3	140686	broad.mit.edu	37	20	44416617	44416617	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:44416617C>T	ENST00000243938.4	-	4	299	c.216G>A	c.(214-216)agG>agA	p.R72R	WFDC3_ENST00000372630.2_Intron|WFDC3_ENST00000481847.1_5'UTR|WFDC3_ENST00000372632.2_Intron	NM_080614.1	NP_542181.1	Q8IUB2	WFDC3_HUMAN	WAP four-disulfide core domain 3	72	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				AATCTCTTTTCCTCCCTGTAG	0.493000													7	23					0	0	0.003080	0	0
TPPP	11076	broad.mit.edu	37	5	677985	677985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:677985G>A	ENST00000360578.5	-	2	312	c.191C>T	c.(190-192)gCc>gTc	p.A64V		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	64	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		GGTGGCCCTGGCGTCCCCGTG	0.667000													5	22					0	0	0.000602	0	0
TLCD1	116238	broad.mit.edu	37	17	27052510	27052510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:27052510C>T	ENST00000292090.3	-	2	376	c.266G>A	c.(265-267)tGc>tAc	p.C89Y	TLCD1_ENST00000394933.3_Missense_Mutation_p.C42Y	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	89	TLC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					CGCAGAGAAGCAAACGAGCAA	0.542000													20	47					0	0	0.001523	0	0
FLT1	2321	broad.mit.edu	37	13	28896930	28896930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:28896930C>T	ENST00000282397.4	-	21	3201	c.2950G>A	c.(2950-2952)Gag>Aag	p.E984K	FLT1_ENST00000540678.1_Missense_Mutation_p.E202K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	984	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TACCTACCCTCCTCTTCCTCA	0.403000													11	80					0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100686258	100686258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100686258C>T	ENST00000306151.4	+	3	11625	c.11561C>T	c.(11560-11562)tCa>tTa	p.S3854L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3854						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAAGCCGGTTCATTCTCCATA	0.468000													14	58					0	0	0.001855	0	0
SV2A	9900	broad.mit.edu	37	1	149884923	149884923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:149884923C>T	ENST00000369146.3	-	2	960	c.470G>A	c.(469-471)cGg>cAg	p.R157Q	SV2A_ENST00000369145.1_Missense_Mutation_p.R157Q	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	157					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GCCACACTCCCGTAGGATGGC	0.617000													9	45					0	0	0.008291	0	0
PARK2	5071	broad.mit.edu	37	6	161807882	161807882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:161807882C>T	ENST00000366898.1	-	10	1213	c.1111G>A	c.(1111-1113)Gcg>Acg	p.A371T	PARK2_ENST00000338468.3_Missense_Mutation_p.A180T|PARK2_ENST00000366896.1_Missense_Mutation_p.A222T|PARK2_ENST00000366897.1_Missense_Mutation_p.A343T|PARK2_ENST00000366894.1_Missense_Mutation_p.A180T	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	371			A -> T (in a patient with Parkinson disease; unknown pathological significance).		aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TCATGGTACGCTTCTTTACAT	0.458000													18	47					0	0	0.008871	0	0
THEG	51298	broad.mit.edu	37	19	375772	375772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:375772C>T	ENST00000342640.4	-	1	241	c.199G>A	c.(199-201)Gag>Aag	p.E67K	THEG_ENST00000346878.2_Missense_Mutation_p.E67K	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	67					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACCTCCTCGGGGGGAAGC	0.612000													9	90					0	0	0.001368	0	0
TRANK1	9881	broad.mit.edu	37	3	36873917	36873917	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36873917T>G	ENST00000301807.6	-	21	7272	c.5375A>C	c.(5374-5376)aAa>aCa	p.K1792T	TRANK1_ENST00000429976.2_Missense_Mutation_p.K2342T|TRANK1_ENST00000428977.2_Missense_Mutation_p.K1792T	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2342					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CATGCCAAATTTCCCTTCTAT	0.483000													25	68					0	0	0.004656	0	0
NT5DC3	51559	broad.mit.edu	37	12	104174101	104174101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:104174101C>T	ENST00000392876.3	-	13	1411	c.1371G>A	c.(1369-1371)tgG>tgA	p.W457*		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	457							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TTTCCTTTTTCCACTCCTGCA	0.473000													10	68					0	0	0.001368	0	0
PAK7	57144	broad.mit.edu	37	20	9624876	9624876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9624876C>T	ENST00000378429.3	-	4	647	c.101G>A	c.(100-102)gGc>gAc	p.G34D	PAK7_ENST00000353224.5_Missense_Mutation_p.G34D|PAK7_ENST00000378423.1_Missense_Mutation_p.G34D	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	34	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTGGGGAAGGCCGGTAAACTT	0.498000													21	47					0	0	0.008871	0	0
TNXB	7148	broad.mit.edu	37	6	32053803	32053803	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:32053803G>T	ENST00000375244.3	-	7	3073	c.2872C>A	c.(2872-2874)Cag>Aag	p.Q958K	TNXB_ENST00000375247.2_Missense_Mutation_p.Q958K			P22105	TENX_HUMAN	tenascin XB	1045	Fibronectin type-III 2.				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						TGGGGGCGCTGCTGCAGGAGA	0.667000													58	149					1.72845e-40	1.99211e-40	0.003610	1	0
GRM7	2917	broad.mit.edu	37	3	7620939	7620939	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:7620939G>A	ENST00000486284.1	+	8	2620	c.2346G>A	c.(2344-2346)gaG>gaA	p.E782E	GRM7_ENST00000402647.2_Silent_p.E782E|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.E782E|GRM7_ENST00000403881.1_Silent_p.E782E|GRM7_ENST00000357716.4_Silent_p.E782E	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	782					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GTGTACCCGAGAATTTTAACG	0.438000													8	32					0	0	0.004482	0	0
GABRP	2568	broad.mit.edu	37	5	170232762	170232762	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:170232762G>A	ENST00000518525.1	+	8	1048	c.584G>A	c.(583-585)gGg>gAg	p.G195E	GABRP_ENST00000519385.1_Missense_Mutation_p.G195E|GABRP_ENST00000519598.1_Missense_Mutation_p.G195E|GABRP_ENST00000265294.4_Missense_Mutation_p.G195E			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	195						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGGCTGAGAGGGAACGACTCT	0.527000													15	24					0	0	0.003163	0	0
ZNF423	23090	broad.mit.edu	37	16	49671203	49671203	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:49671203G>A	ENST00000561648.1	-	4	1913	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	ZNF423_ENST00000567169.1_Silent_p.L503L|ZNF423_ENST00000562520.1_Silent_p.L560L|ZNF423_ENST00000562871.1_Silent_p.L560L|ZNF423_ENST00000535559.1_Silent_p.L503L|ZNF423_ENST00000563137.2_Silent_p.L560L|ZNF423_ENST00000262383.2_Silent_p.L620L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	620					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				CGCTTGCTGAGAGCCGCTGCC	0.567000													7	43					0	0	0.001984	0	0
CLVS2	134829	broad.mit.edu	37	6	123377155	123377155	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:123377155C>T	ENST00000275162.4	+	5	2215	c.880C>T	c.(880-882)Cca>Tca	p.P294S	CLVS2_ENST00000368438.1_Missense_Mutation_p.P148S	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	294					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GGAACTCTCCCCAAAGTCCAT	0.502000													4	20					0	0	0.000248	0	0
CHD5	26038	broad.mit.edu	37	1	6194187	6194187	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:6194187C>T	ENST00000262450.3	-	20	3244		c.e20+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGCAGCGCACCTGGGAGAAG	0.637000													7	40					0	0	0.001984	0	0
CNGA2	1260	broad.mit.edu	37	X	150911672	150911672	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:150911672C>T	ENST00000329903.4	+	6	730	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	233					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CCCCACTGACCTGATCTATTT	0.542000													4	17					0	0	0.000602	0	0
TMEM62	80021	broad.mit.edu	37	15	43452952	43452952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:43452952C>T	ENST00000260403.2	+	10	1535	c.1256C>T	c.(1255-1257)cCc>cTc	p.P419L		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	419						integral to membrane		p.P419H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		AGTTTTGATCCCCTGGCATCA	0.328000													10	34					0	0	0.001368	0	0
FMO3	2328	broad.mit.edu	37	1	171080000	171080000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:171080000C>T	ENST00000367755.4	+	6	800	c.689C>T	c.(688-690)cCt>cTt	p.P230L	FMO3_ENST00000538429.1_Missense_Mutation_p.P167L|FMO3_ENST00000392085.2_Missense_Mutation_p.P230L|FMO3_ENST00000542847.1_Missense_Mutation_p.P210L	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	230					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AATGGTTATCCTTGGGACATG	0.463000													19	126					0	0	0.001882	0	0
PDE4A	5141	broad.mit.edu	37	19	10568687	10568687	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:10568687G>A	ENST00000380702.2	+	9	944	c.944G>A	c.(943-945)gGg>gAg	p.G315E	PDE4A_ENST00000592685.1_Missense_Mutation_p.G315E|PDE4A_ENST00000344979.3_Missense_Mutation_p.G98E|PDE4A_ENST00000440014.2_Missense_Mutation_p.G276E|PDE4A_ENST00000352831.6_Missense_Mutation_p.G337E|PDE4A_ENST00000293683.5_Missense_Mutation_p.G311E			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	337					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAAATCACAGGGTTGAAAAAG	0.547000													15	74					0	0	0.004990	0	0
PREX2	80243	broad.mit.edu	37	8	68992680	68992680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:68992680C>T	ENST00000288368.4	+	16	1922	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	549	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTCTGTAGTCCTTGAAAAAAG	0.338000													7	35					0	0	0.003080	0	0
MGST3	4259	broad.mit.edu	37	1	165623542	165623542	+	Silent	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:165623542C>A	ENST00000367889.3	+	5	716	c.276C>A	c.(274-276)gcC>gcA	p.A92A	MGST3_ENST00000367888.4_Silent_p.A92A|MGST3_ENST00000367886.2_Silent_p.A106A|MGST3_ENST00000404549.1_Silent_p.A106A|MGST3_ENST00000367885.1_Silent_p.A106A|MGST3_ENST00000367883.1_Silent_p.A106A|MGST3_ENST00000367884.1_Silent_p.A92A	NM_004528.3	NP_004519.1	O14880	MGST3_HUMAN	microsomal glutathione S-transferase 3	92					leukotriene biosynthetic process|leukotriene production involved in inflammatory response|signal transduction|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glutathione peroxidase activity|glutathione transferase activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	6	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Glutathione(DB00143)	TGGGCTTGGCCTGGATTGTTG	0.368000													41	129					1.00001e-27	1.1489e-27	0.002222	1	0
COL6A6	131873	broad.mit.edu	37	3	130300724	130300724	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:130300724G>A	ENST00000358511.6	+	8	3898	c.3867G>A	c.(3865-3867)caG>caA	p.Q1289Q	COL6A6_ENST00000453409.2_Silent_p.Q1289Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1289	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATACATTTCAGAATAAATCAG	0.328000													26	135					0	0	0.007291	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575551	120575551	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:120575551T>A	ENST00000300648.6	-	49	6473	c.6461A>T	c.(6460-6462)gAg>gTg	p.E2154V		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2154					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGCAGATACTCGATGATGAT	0.567000													4	22					0	0	0.000248	0	0
OR51F2	119694	broad.mit.edu	37	11	4843076	4843076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:4843076G>A	ENST00000322110.5	+	1	526	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACCAATGCCCGAATTGCCAAG	0.463000													34	106					0	0	0.003271	0	0
KLK7	5650	broad.mit.edu	37	19	51483667	51483667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:51483667G>A	ENST00000391807.1	-	4	399	c.298C>T	c.(298-300)Cgc>Tgc	p.R100C	KLK7_ENST00000597707.1_Missense_Mutation_p.R28C|CTB-147C22.9_ENST00000594512.1_RNA|KLK7_ENST00000336317.4_5'UTR|KLK7_ENST00000595820.1_Missense_Mutation_p.R100C	NM_139277.2	NP_644806.1	P49862	KLK7_HUMAN	kallikrein-related peptidase 7	100	Peptidase S1.				epidermis development|proteolysis	extracellular region	serine-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(2)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00382)|GBM - Glioblastoma multiforme(134;0.00895)		CCGGGGTGGCGGAATGACTTC	0.557000													4	35					0	0	0.000248	0	0
SLC9B2	133308	broad.mit.edu	37	4	103952958	103952958	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:103952958A>G	ENST00000394785.3	-	10	1785	c.1154T>C	c.(1153-1155)gTt>gCt	p.V385A	SLC9B2_ENST00000503103.1_Missense_Mutation_p.V328A|SLC9B2_ENST00000339611.4_Missense_Mutation_p.V385A|SLC9B2_ENST00000503230.1_Missense_Mutation_p.V328A|SLC9B2_ENST00000362026.3_Missense_Mutation_p.V385A	NM_178833.4	NP_849155.2	Q86UD5	NHDC2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	385					sodium ion transport	integral to membrane|mitochondrial membrane	solute:hydrogen antiporter activity										TATCTTTTCAACCTCTGCCTA	0.343000													6	16					0	0	0.001168	0	0
OR10G7	390265	broad.mit.edu	37	11	123909220	123909220	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:123909220G>A	ENST00000330487.5	-	1	497	c.489C>T	c.(487-489)ttC>ttT	p.F163F		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGGGCAAATGGAAAGTCAATA	0.577000													6	134					0	0	0.001368	0	0
KCNT2	343450	broad.mit.edu	37	1	196227408	196227408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:196227408G>A	ENST00000367433.5	-	25	3156	c.3055C>T	c.(3055-3057)Ctc>Ttc	p.L1019F	KCNT2_ENST00000367431.4_Missense_Mutation_p.L977F|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.L1043F			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1043						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTCCTGTAGAGGTTCAGTCGC	0.443000													19	45					0	0	0.006122	0	0
C20orf26	26074	broad.mit.edu	37	20	20168671	20168671	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:20168671G>C	ENST00000245957.5	+	14	1559	c.1483G>C	c.(1483-1485)Gac>Cac	p.D495H	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	495										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGAGGACTTAGACCGTTACAA	0.443000													7	72					0	0	0.003080	0	0
FILIP1	27145	broad.mit.edu	37	6	76063340	76063340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:76063340C>T	ENST00000393004.2	-	4	765	c.544G>A	c.(544-546)Gag>Aag	p.E182K	FILIP1_ENST00000237172.7_Missense_Mutation_p.E182K|FILIP1_ENST00000370020.1_Missense_Mutation_p.E83K			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	182										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCTCTAACTCGTATACGGTG	0.507000													28	123					0	0	0.005443	0	0
TTN	7273	broad.mit.edu	37	2	179455277	179455277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179455277C>T	ENST00000589042.1	-	304	61399	c.61175G>A	c.(61174-61176)tGg>tAg	p.W20392*	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W11452*|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W11519*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W11327*|TTN_ENST00000342992.6_Nonsense_Mutation_p.W17824*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W18751*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18751	Fibronectin type-III 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGCTTTGTCCACACCAAATC	0.443000													30	107					0	0	0.002445	0	0
ADAM21	8747	broad.mit.edu	37	14	70924646	70924646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:70924646G>A	ENST00000603540.1	+	2	688	c.430G>A	c.(430-432)Gaa>Aaa	p.E144K	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E144K	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	144					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTCACTTATGAAATTGAACC	0.438000													10	58					0	0	0.008291	0	0
TAB2	23118	broad.mit.edu	37	6	149700528	149700528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:149700528C>T	ENST00000367456.1	+	4	2054	c.1477C>T	c.(1477-1479)Cat>Tat	p.H493Y	TAB2_ENST00000536230.1_Missense_Mutation_p.H461Y|TAB2_ENST00000392282.1_Missense_Mutation_p.H493Y|TAB2_ENST00000286332.5_Missense_Mutation_p.H493Y|TAB2_ENST00000538427.1_Missense_Mutation_p.H493Y			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	493					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TCTTCTTAATCATCCTGATCA	0.423000													15	42					0	0	0.002450	0	0
CCDC60	160777	broad.mit.edu	37	12	119909840	119909840	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:119909840C>T	ENST00000327554.2	+	3	677	c.212C>T	c.(211-213)gCt>gTt	p.A71V	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	71										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGATATTTTGCTATTCTGAGG	0.463000													11	76					0	0	0.001368	0	0
DAB1	1600	broad.mit.edu	37	1	57491658	57491658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:57491658G>A	ENST00000371236.2	-	10	1045	c.782C>T	c.(781-783)cCc>cTc	p.P261L	DAB1_ENST00000371234.4_Missense_Mutation_p.P261L|DAB1_ENST00000439789.2_Missense_Mutation_p.P175L|DAB1_ENST00000414851.2_Missense_Mutation_p.P243L|DAB1_ENST00000420954.2_Missense_Mutation_p.P259L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371231.1_Missense_Mutation_p.P294L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	294					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACTTACGGGGGGAGAGGTTAT	0.458000													12	110					0	0	0.002450	0	0
OR5A2	219981	broad.mit.edu	37	11	59189494	59189494	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:59189494C>T	ENST00000302040.4	-	1	955	c.933G>A	c.(931-933)ggG>ggA	p.G311G		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CGTGAGAAATCCCGGGGTCCC	0.418000													8	47					0	0	0.004482	0	0
TRAV12-2	28673	broad.mit.edu	37	14	22356412	22356412	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22356412G>A	ENST00000390437.2	+	0	175																											CCAACAGAAGGAGGTGGAGCA	0.498000													7	19					0	0	0.003080	0	0
DNAJC5G	285126	broad.mit.edu	37	2	27500810	27500810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:27500810G>A	ENST00000296097.3	+	4	720	c.302G>A	c.(301-303)gGa>gAa	p.G101E	DNAJC5G_ENST00000406962.1_Intron|DNAJC5G_ENST00000402462.1_Missense_Mutation_p.G101E|DNAJC5G_ENST00000404433.1_Missense_Mutation_p.G85E	NM_173650.1	NP_775921.1	Q8N7S2	DNJ5G_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 gamma	101					protein folding	membrane	heat shock protein binding|unfolded protein binding			cervix(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTCATTGGGAATATATCTG	0.403000													18	57					0	0	0.006122	0	0
FLT3	2322	broad.mit.edu	37	13	28578193	28578193	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:28578193G>A	ENST00000380982.4	-	24	3068	c.2987C>T	c.(2986-2988)tCg>tTg	p.S996L	FLT3_ENST00000469894.1_5'UTR|FLT3_ENST00000241453.7_Missense_Mutation_p.S993L|FLT3_ENST00000537084.1_Missense_Mutation_p.S952L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	993					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTTCCTCTACGAATCTTCGAC	0.448000			"""Mis, O"""		"""AML, ALL"""								8	44					0	0	0.000978	0	0
TRHDE	29953	broad.mit.edu	37	12	72866856	72866856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:72866856G>A	ENST00000261180.4	+	5	1441	c.1345G>A	c.(1345-1347)Gac>Aac	p.D449N		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	449					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTGGTTTGGTGACCTTGTGAC	0.373000													18	114					0	0	0.006122	0	0
RNF122	79845	broad.mit.edu	37	8	33416159	33416159	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:33416159G>A	ENST00000256257.1	-	2	557	c.156C>T	c.(154-156)agC>agT	p.S52S		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	52						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding			endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		AGAAGATAAGGCTGAGCATGA	0.547000													4	18					0	0	0.000248	0	0
SLITRK5	26050	broad.mit.edu	37	13	88330434	88330434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:88330434G>A	ENST00000325089.6	+	2	3010	c.2791G>A	c.(2791-2793)Gaa>Aaa	p.E931K	SLITRK5_ENST00000400028.3_Missense_Mutation_p.E690K	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	931						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAACCGGAACGAATATCTGGA	0.522000													10	81					0	0	0.000978	0	0
TRAV3	28690	broad.mit.edu	37	14	22192091	22192091	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22192091G>A	ENST00000390425.2	+	0	132																											AGGTGGGCTGGAAAGGACCCC	0.582000													16	63					0	0	0.004007	0	0
MYH7	4625	broad.mit.edu	37	14	23890224	23890224	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:23890224C>T	ENST00000355349.3	-	26	3441	c.3279G>A	c.(3277-3279)agG>agA	p.R1093R		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1093					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATCCTCAATCCTTGCGTTGA	0.587000													8	62					0	0	0.004482	0	0
ADAM2	2515	broad.mit.edu	37	8	39634660	39634660	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:39634660C>T	ENST00000265708.4	-	11	1015	c.912G>A	c.(910-912)ctG>ctA	p.L304L	ADAM2_ENST00000379853.2_Silent_p.L178L|ADAM2_ENST00000347580.4_Silent_p.L285L|ADAM2_ENST00000521880.1_Silent_p.L304L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	304	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CAAGTGATTCCAGACTTATGG	0.368000													6	32					0	0	0.001168	0	0
LAIR1	3903	broad.mit.edu	37	19	54871657	54871657	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:54871657G>A	ENST00000391743.3	-	3	613	c.333C>T	c.(331-333)tcC>tcT	p.S111S	LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000391742.2_Silent_p.S129S|LAIR1_ENST00000434277.2_Silent_p.S128S|LAIR1_ENST00000313038.6_Silent_p.S122S|LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000463489.1_5'UTR			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	129	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CTGTGTCCGGGGAGTCCGGGC	0.622000													10	39					0	0	0.004007	0	0
ABCC9	10060	broad.mit.edu	37	12	22059109	22059109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:22059109C>T	ENST00000261200.4	-	10	1568	c.1569G>A	c.(1567-1569)atG>atA	p.M523I	ABCC9_ENST00000261201.4_Missense_Mutation_p.M523I|ABCC9_ENST00000345162.2_Missense_Mutation_p.M523I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	523	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATAGTTCTTTCATTCTTGTTT	0.368000													4	32					0	0	0.000602	0	0
MAP7	9053	broad.mit.edu	37	6	136693712	136693712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:136693712G>A	ENST00000354570.3	-	8	1213	c.803C>T	c.(802-804)tCg>tTg	p.S268L	MAP7_ENST00000438100.2_Missense_Mutation_p.S253L|MAP7_ENST00000432797.2_Missense_Mutation_p.S122L|MAP7_ENST00000454590.1_Missense_Mutation_p.S290L|MAP7_ENST00000544465.1_Missense_Mutation_p.S253L	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	268					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.S268L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCGATCCATCGAATTTCTAGA	0.512000													13	35					0	0	0.001368	0	0
ZNF536	9745	broad.mit.edu	37	19	31039293	31039293	+	Missense_Mutation	SNP	G	G	A	rs140654011		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:31039293G>A	ENST00000355537.3	+	4	2914	c.2767G>A	c.(2767-2769)Gac>Aac	p.D923N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	923					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.D923N(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGCTTTCATGGACAGTTTTGT	0.498000													25	155					0	0	0.005443	0	0
TCIRG1	10312	broad.mit.edu	37	11	67816682	67816682	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:67816682C>T	ENST00000265686.3	+	15	1916	c.1808C>T	c.(1807-1809)gCc>gTc	p.A603V	TCIRG1_ENST00000532635.1_Missense_Mutation_p.A387V	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	603				Missing (in Ref. 1; AAA97878).	ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GCCGCCTCGGCCCCCAGCATC	0.632000													28	77					0	0	0.001786	0	0
H2AFY	9555	broad.mit.edu	37	5	134696251	134696251	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:134696251G>A	ENST00000511689.1	-	5	1117	c.524C>T	c.(523-525)aCc>aTc	p.T175I	H2AFY_ENST00000510038.1_Missense_Mutation_p.T175I|H2AFY_ENST00000312469.4_Missense_Mutation_p.T175I|H2AFY_ENST00000423969.2_Intron|H2AFY_ENST00000304332.4_Missense_Mutation_p.T174I|H2AFY_ENST00000512507.1_5'UTR	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	175					chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGCCCTCGGTTGTGCTGTC	0.597000													16	51					0	0	0.006122	0	0
TCL6	27004	broad.mit.edu	37	14	96135887	96135887	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96135887G>A	ENST00000467865.1	+	0	1821				RP11-1070N10.6_ENST00000461160.1_RNA																large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		gttttctacaggttagaagca	0.522000			T	TRA@	T-ALL								4	30					0	0	0.000602	0	0
NUPL2	11097	broad.mit.edu	37	7	23236306	23236306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:23236306C>T	ENST00000258742.5	+	5	789	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	177					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGCTAAATTCTGTCCAACGT	0.308000													5	45					0	0	0.001168	0	0
ADARB2	105	broad.mit.edu	37	10	1313244	1313244	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:1313244G>A	ENST00000381312.1	-	4	1423	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	366					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.S366S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TGACCAGCTGGGATATGGAGT	0.602000													11	13					0	0	0.008291	0	0
ITGA5	3678	broad.mit.edu	37	12	54799683	54799683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:54799683G>A	ENST00000293379.4	-	10	1195	c.934C>T	c.(934-936)Cga>Tga	p.R312*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	312					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						TAGAGGGATCGAATGTCTGAG	0.512000													5	66					0	0	0.000602	0	0
ZNF222	7673	broad.mit.edu	37	19	44536205	44536205	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44536205C>T	ENST00000187879.8	+	4	540	c.378C>T	c.(376-378)ttC>ttT	p.F126F	ZNF222_ENST00000391960.3_Silent_p.F166F|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AACAGTTCTTCAGTGATGTTT	0.398000													24	67					0	0	0.002780	0	0
LRFN2	57497	broad.mit.edu	37	6	40359880	40359880	+	Silent	SNP	G	G	A	rs144850104	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:40359880G>A	ENST00000338305.6	-	3	2714	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	724						cell junction|integral to membrane|postsynaptic membrane		p.F724F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCCCATGTCGAAGGAGTGGC	0.692000													8	11					0	0	0.003080	0	0
CPS1	1373	broad.mit.edu	37	2	211540556	211540556	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:211540556C>T	ENST00000233072.5	+	36	4462	c.4266C>T	c.(4264-4266)tcC>tcT	p.S1422S	CPS1_ENST00000430249.2_Silent_p.S1428S|CPS1_ENST00000451903.2_Silent_p.S971S	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1422					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCTCTCTTCCATCAGAAAGT	0.448000													6	38					0	0	0.001168	0	0
OR2T11	127077	broad.mit.edu	37	1	248790161	248790161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248790161G>A	ENST00000330803.2	-	1	330	c.269C>T	c.(268-270)tCc>tTc	p.S90F		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCCACAAAGGAAATGATCTT	0.493000													9	53					0	0	0.004482	0	0
PDPK1	5170	broad.mit.edu	37	16	2607941	2607941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:2607941C>T	ENST00000342085.4	+	2	411	c.262C>T	c.(262-264)Ctt>Ttt	p.L88F	PDPK1_ENST00000268673.7_Missense_Mutation_p.L88F|PDPK1_ENST00000354836.5_Missense_Mutation_p.L88F|PDPK1_ENST00000441549.3_Missense_Mutation_p.L88F|PDPK1_ENST00000389224.3_Missense_Mutation_p.L61F	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase-1	88	Protein kinase.				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TGGGAAAATCCTTGGGGAAGG	0.617000													7	57					0	0	0.001984	0	0
SLC4A1	6521	broad.mit.edu	37	17	42334865	42334865	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:42334865G>A	ENST00000262418.6	-	13	1634	c.1479C>T	c.(1477-1479)atC>atT	p.I493I		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	493	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCAGAAGCCGATCCACACGC	0.592000													8	36					0	0	0.004482	0	0
PSG3	5671	broad.mit.edu	37	19	43233499	43233499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:43233499G>A	ENST00000327495.5	-	5	1203	c.1019C>T	c.(1018-1020)tCa>tTa	p.S340L	PSG3_ENST00000595140.1_Missense_Mutation_p.S340L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	340	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				ATAGGTGAATGAAGGGTAAAT	0.473000													19	131					0	0	0.008871	0	0
C17orf70	80233	broad.mit.edu	37	17	79517272	79517272	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:79517272A>G	ENST00000537152.1	-	3	1319		c.e3+1		C17orf70_ENST00000327787.8_Splice_Site	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70						DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AGCAGCTCATACCTTCATGCG	0.592000													35	64					0	0	0.006230	0	0
PRKACG	5568	broad.mit.edu	37	9	71628337	71628337	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:71628337G>A	ENST00000377276.2	-	1	702	c.672C>T	c.(670-672)gcC>gcT	p.A224A		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	224	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCACCCCTAGGGCCCACCAGT	0.622000													6	34					0	0	0.004482	0	0
EFCAB14	9813	broad.mit.edu	37	1	47181973	47181973	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:47181973G>A	ENST00000371933.3	-	2	1304	c.328C>T	c.(328-330)Cga>Tga	p.R110*	EFCAB14_ENST00000544071.1_Nonsense_Mutation_p.R110*	NM_014774.2	NP_055589.1			EF-hand calcium binding domain 14																		TTACTTGTTCGAAATTTTTCC	0.443000													3	14					0	0	0.004672	0	0
LRP1B	53353	broad.mit.edu	37	2	141819819	141819819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:141819819C>T	ENST00000389484.3	-	8	2008	c.1037G>A	c.(1036-1038)gGg>gAg	p.G346E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	346					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCGACATTCCCGTAGTCAGT	0.443000										TSP Lung(27;0.18)			12	35					0	0	0.001368	0	0
SCN1A	6323	broad.mit.edu	37	2	166909411	166909411	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:166909411C>T	ENST00000423058.2	-	5	662	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SCN1A_ENST00000303395.4_Silent_p.L215L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Silent_p.L215L|SCN1A_ENST00000375405.3_Silent_p.L215L	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	215						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGAATGTTCTCAATGCCGAGA	0.453000													5	19					0	0	0.001984	0	0
BRD4	23476	broad.mit.edu	37	19	15350008	15350008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15350008G>A	ENST00000263377.2	-	18	3865	c.3644C>T	c.(3643-3645)tCc>tTc	p.S1215F		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1215					interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTTGGCTGTGGAGGAGGGGGT	0.627000			T	C15orf55	lethal midline carcinoma of young people								4	21					0	0	0.000248	0	0
MYH2	4620	broad.mit.edu	37	17	10428286	10428286	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:10428286C>T	ENST00000245503.5	-	34	5143	c.4759G>A	c.(4759-4761)Gag>Aag	p.E1587K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1587K|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1587					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TCAATTTCCTCATCTTTTTCA	0.453000													10	71					0	0	0.008291	0	0
CSMD1	64478	broad.mit.edu	37	8	2857554	2857554	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:2857554A>G	ENST00000520002.1	-	54	8687	c.8132T>C	c.(8131-8133)tTc>tCc	p.F2711S	CSMD1_ENST00000537824.1_Missense_Mutation_p.F2710S|CSMD1_ENST00000400186.3_Missense_Mutation_p.F2653S|CSMD1_ENST00000602723.1_Missense_Mutation_p.F2653S|CSMD1_ENST00000602557.1_Missense_Mutation_p.F2711S|CSMD1_ENST00000542608.1_Missense_Mutation_p.F2652S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2711	Sushi 18.					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)		CACAAGCCGGAAACCAGGATT	0.532000													9	69					0	0	0.004482	0	0
OR1C1	26188	broad.mit.edu	37	1	247921301	247921301	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:247921301C>T	ENST00000408896.2	-	1	681	c.408G>A	c.(406-408)atG>atA	p.M136I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGCACAGGTTCATTCTGGCGG	0.493000													7	44					0	0	0.008291	0	0
DLK1	8788	broad.mit.edu	37	14	101201188	101201188	+	Silent	SNP	C	C	T	rs12975		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:101201188C>T	ENST00000341267.4	+	5	1349	c.1107C>T	c.(1105-1107)atC>atT	p.I369I	DLK1_ENST00000331224.6_Silent_p.I296I	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	369					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CCGAGAAGATCGACATGACCA	0.557000													18	47					0	0	0.006122	0	0
FMN2	56776	broad.mit.edu	37	1	240370352	240370352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:240370352C>T	ENST00000319653.9	+	5	2470	c.2240C>T	c.(2239-2241)tCc>tTc	p.S747F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572000													3	13					0	0	0.004672	0	0
PTPRT	11122	broad.mit.edu	37	20	40743942	40743942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40743942C>T	ENST00000373198.3	-	23	3297	c.3062G>A	c.(3061-3063)cGa>cAa	p.R1021Q	PTPRT_ENST00000373193.3_Missense_Mutation_p.R1002Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R989Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R998Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1008Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R999Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1009Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	999	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGCCAGTATCGCACACATTT	0.507000													15	46					0	0	0.004007	0	0
NFIB	4781	broad.mit.edu	37	9	14146711	14146711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:14146711C>T	ENST00000380959.3	-	6	1375	c.902G>A	c.(901-903)cGa>cAa	p.R301Q	NFIB_ENST00000543693.1_Missense_Mutation_p.R49Q|NFIB_ENST00000380953.1_Missense_Mutation_p.R301Q|NFIB_ENST00000397579.2_Missense_Mutation_p.R301Q|NFIB_ENST00000397575.3_Missense_Mutation_p.R301Q|NFIB_ENST00000380934.4_Missense_Mutation_p.R327Q|NFIB_ENST00000397581.2_Missense_Mutation_p.R301Q|NFIB_ENST00000380924.1_Missense_Mutation_p.R49Q	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	301					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTGCCATGTTCGACTTCCAGC	0.413000			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""								7	84					0	0	0.003080	0	0
TRPV5	56302	broad.mit.edu	37	7	142625268	142625268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142625268G>A	ENST00000265310.1	-	7	1172	c.824C>T	c.(823-825)tCc>tTc	p.S275F	TRPV5_ENST00000442623.1_Missense_Mutation_p.S275F	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	275					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTAGAGAATGGAGGTCAGGGG	0.567000													7	76					0	0	0.001984	0	0
DHX15	1665	broad.mit.edu	37	4	24543549	24543549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:24543549G>A	ENST00000336812.4	-	8	1588	c.1432C>T	c.(1432-1434)Cct>Tct	p.P478S		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	478	Helicase C-terminal.				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				CATTTTCCAGGTCTGGTACGT	0.428000													12	36					0	0	0.001855	0	0
RCOR1	23186	broad.mit.edu	37	14	103167667	103167667	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:103167667G>A	ENST00000262241.6	+	4	724	c.498_splice	c.e4+1	p.Q166_splice	RCOR1_ENST00000570597.1_Splice_Site_p.Q163_splice	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	163	ELM2.|Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						ACATGGAACAGGTAATATCAT	0.323000													4	48					0	0	0.000602	0	0
VANGL1	81839	broad.mit.edu	37	1	116228079	116228079	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:116228079G>A	ENST00000355485.2	+	7	1516	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	VANGL1_ENST00000369510.3_Silent_p.Q413Q|VANGL1_ENST00000310260.3_Silent_p.Q415Q|VANGL1_ENST00000369509.1_Silent_p.Q415Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	415					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCCGGCAGCAGAACTACCACA	0.652000													5	35					0	0	0.001168	0	0
EXOC2	55770	broad.mit.edu	37	6	599156	599156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:599156C>T	ENST00000230449.4	-	8	947	c.812G>A	c.(811-813)aGa>aAa	p.R271K	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	271					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAGTGCATTTCTAGTGGAATC	0.333000													18	138					0	0	0.001523	0	0
SPRR3	6707	broad.mit.edu	37	1	152975896	152975896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152975896C>T	ENST00000331860.3	+	3	550	c.400C>T	c.(400-402)Cct>Tct	p.P134S	SPRR3_ENST00000295367.4_Missense_Mutation_p.P134S|SPRR3_ENST00000542696.1_Missense_Mutation_p.P126S	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	134	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATCAAAGTTCCTGAGCAAGG	0.552000													5	18					0	0	0.001168	0	0
FAM50B	26240	broad.mit.edu	37	6	3850489	3850489	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:3850489G>A	ENST00000380274.1	+	1	870	c.444G>A	c.(442-444)gtG>gtA	p.V148V	FAM50B_ENST00000380272.3_Silent_p.V148V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	148						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				ACCCCGACGTGGACACCAGCT	0.662000													8	45					0	0	0.003080	0	0
OR6A2	8590	broad.mit.edu	37	11	6816144	6816144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6816144G>A	ENST00000332601.3	-	1	984	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R266W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCCTTTGGCCGAGCATAGATG	0.473000													12	56					0	0	0.000978	0	0
SHANK2	22941	broad.mit.edu	37	11	70333073	70333073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:70333073C>T	ENST00000338508.4	-	32	3327	c.3328G>A	c.(3328-3330)Gat>Aat	p.D1110N	SHANK2_ENST00000409161.1_Missense_Mutation_p.D513N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D730N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D514N			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	730					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCCTCATCCCCCAGGTCT	0.697000													15	39					0	0	0.004007	0	0
EHD2	30846	broad.mit.edu	37	19	48220193	48220193	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:48220193C>T	ENST00000263277.3	+	2	575	c.324C>T	c.(322-324)acC>acT	p.T108T	EHD2_ENST00000538399.1_Intron|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	108					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		CTGAGGGCACCGTGCCCGGCA	0.667000													4	53					0	0	0.001984	0	0
LRRC66	339977	broad.mit.edu	37	4	52860739	52860739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:52860739C>T	ENST00000343457.3	-	4	2455	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	817						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCCGGAAACTCATCCCCTAAG	0.473000													7	42					0	0	0.004482	0	0
FRY	10129	broad.mit.edu	37	13	32826065	32826065	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:32826065A>C	ENST00000380250.3	+	50	7717	c.7221A>C	c.(7219-7221)gaA>gaC	p.E2407D		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTGGCCAAGAAGTAGGATTGA	0.388000													4	63					0	0	0.000248	0	0
ALPK2	115701	broad.mit.edu	37	18	56204723	56204723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:56204723G>A	ENST00000361673.3	-	5	2909	c.2696C>T	c.(2695-2697)tCa>tTa	p.S899L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	899							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCTGTGTGTGAAATGTTCAA	0.502000													8	39					0	0	0.006214	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51647767	51647767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:51647767C>T	ENST00000317643.6	+	2	607	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SIGLEC7_ENST00000600577.1_Intron|SIGLEC7_ENST00000305628.7_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	180	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGGGACGCCCCCTATGATCTC	0.652000													19	105					0	0	0.008871	0	0
GPR112	139378	broad.mit.edu	37	X	135430517	135430517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:135430517C>T	ENST00000394143.1	+	6	4943	c.4652C>T	c.(4651-4653)cCc>cTc	p.P1551L	GPR112_ENST00000412101.1_Missense_Mutation_p.P1346L|GPR112_ENST00000370652.1_Missense_Mutation_p.P1551L|GPR112_ENST00000287534.4_Missense_Mutation_p.P1488L|GPR112_ENST00000394141.1_Missense_Mutation_p.P1346L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1551					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTGAAAAGTCCCTGTACAGCC	0.418000													9	34					0	0	0.004482	0	0
ANKRD34A	284615	broad.mit.edu	37	1	145474217	145474217	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:145474217G>A	ENST00000323397.4	+	4	2182	c.889G>A	c.(889-891)Gac>Aac	p.D297N		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	297	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGCCCTGAGGACCCGCCCCC	0.642000													11	22					0	0	0.000978	0	0
DDX49	54555	broad.mit.edu	37	19	19035781	19035781	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:19035781C>T	ENST00000438170.2	+	10	1140	c.728C>T	c.(727-729)cCc>cTc	p.P243L	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000247003.4_Silent_p.A340A|DDX49_ENST00000599156.1_3'UTR			Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	0	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			GCCGGACGGCCCGTGCAGGTG	0.662000													4	8					0	0	0.000248	0	0
KIAA1755	85449	broad.mit.edu	37	20	36859609	36859609	+	Silent	SNP	G	G	A	rs138852455		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:36859609G>A	ENST00000279024.4	-	5	2137	c.1866C>T	c.(1864-1866)atC>atT	p.I622I		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	622										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTTACCTGGGGATGGTACACA	0.612000													10	18					0	0	0.006214	0	0
MARK1	4139	broad.mit.edu	37	1	220792035	220792035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:220792035G>A	ENST00000402574.1	+	9	1444	c.442G>A	c.(442-444)Gac>Aac	p.D148N	MARK1_ENST00000366918.4_Missense_Mutation_p.D261N|MARK1_ENST00000366917.4_Missense_Mutation_p.D283N	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	283	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TATGTCCACAGACTGTGAAAA	0.343000													11	48					0	0	0.000978	0	0
DYSF	8291	broad.mit.edu	37	2	71896829	71896829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:71896829C>T	ENST00000258104.3	+	50	5897	c.5620C>T	c.(5620-5622)Ccc>Tcc	p.P1874S	DYSF_ENST00000429174.2_Missense_Mutation_p.P1895S|DYSF_ENST00000413539.2_Missense_Mutation_p.P1905S|DYSF_ENST00000410020.3_Missense_Mutation_p.P1913S|DYSF_ENST00000409366.1_Missense_Mutation_p.P1896S|DYSF_ENST00000410041.1_Missense_Mutation_p.P1892S|DYSF_ENST00000409762.1_Missense_Mutation_p.P1891S|DYSF_ENST00000409651.1_Missense_Mutation_p.P1906S|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Missense_Mutation_p.P1875S|DYSF_ENST00000409744.1_Missense_Mutation_p.P1882S|DYSF_ENST00000409582.3_Missense_Mutation_p.P1912S	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1874						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTTCATTTTCCCCTTCGACTA	0.498000													34	51					0	0	0.004878	0	0
IGKV6D-21	28870	broad.mit.edu	37	2	90060446	90060446	+	RNA	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:90060446G>T	ENST00000436451.2	+	0	70																											GCAGGAAGATGTCGCCATCAC	0.453000													117	321					6.51928e-57	7.52172e-57	0.003610	1	0
CPO	130749	broad.mit.edu	37	2	207833919	207833919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:207833919G>A	ENST00000272852.3	+	9	930	c.884G>A	c.(883-885)aGa>aAa	p.R295K		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	295					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GGGTCTTCAAGAGATTGGGCC	0.458000													24	75					0	0	0.005443	0	0
DPAGT1	1798	broad.mit.edu	37	11	118967749	118967749	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:118967749A>T	ENST00000409993.2	-	11	2737	c.1186T>A	c.(1186-1188)Tcc>Acc	p.S396T	DPAGT1_ENST00000432443.2_Missense_Mutation_p.S315T|DPAGT1_ENST00000354202.4_Missense_Mutation_p.S396T			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	396					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TATCGAATGGAGAAGGTGATG	0.488000													13	26					0	0	0.002450	0	0
PURG	29942	broad.mit.edu	37	8	30889602	30889602	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:30889602G>A	ENST00000475541.1	-	1	1629	c.697C>T	c.(697-699)Cgt>Tgt	p.R233C	PURG_ENST00000339382.2_Missense_Mutation_p.R233C	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	233						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		AAGGCATCACGAAACTCAATC	0.498000													13	51					0	0	0.003163	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768587	31768587	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:31768587G>A	ENST00000355459.2	+	1	196	c.183G>A	c.(181-183)tgG>tgA	p.W61*		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	61	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGACCTGCTGGGAGCCCACCA	0.607000													4	29					0	0	0.000602	0	0
OR2A5	393046	broad.mit.edu	37	7	143748223	143748223	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143748223C>T	ENST00000408906.2	+	1	763	c.729C>T	c.(727-729)tcC>tcT	p.S243S		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CCTGCTCCTCCCACCTTTGCA	0.617000													20	84					0	0	0.002299	0	0
KIAA1468	57614	broad.mit.edu	37	18	59972714	59972714	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:59972714C>T	ENST00000256858.6	+	30	3948	c.3700C>T	c.(3700-3702)Cag>Tag	p.Q1234*	KIAA1468_ENST00000398130.2_Nonsense_Mutation_p.Q1200*			Q9P260	K1468_HUMAN	KIAA1468	1200							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				CAAAATGGGCCAGTTGACAAC	0.403000													12	78					0	0	0.001855	0	0
MGAM	8972	broad.mit.edu	37	7	141708471	141708471	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:141708471G>A	ENST00000475668.2	+	3	347	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	MGAM_ENST00000549489.2_Missense_Mutation_p.R98Q			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	98	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R98Q(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GAATTGGAACGAATTAATTGC	0.403000													4	50					0	0	0.000248	0	0
BPIFB1	92747	broad.mit.edu	37	20	31877752	31877752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:31877752G>A	ENST00000253354.1	+	4	480	c.319G>A	c.(319-321)Gag>Aag	p.E107K		NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	107						extracellular space	lipid binding										CAATGACCAGGAGCTGCTAGT	0.552000													16	50					0	0	0.004990	0	0
AGL	178	broad.mit.edu	37	1	100357264	100357264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:100357264C>T	ENST00000294724.4	+	23	3530	c.3052C>T	c.(3052-3054)Ctt>Ttt	p.L1018F	AGL_ENST00000370165.3_Missense_Mutation_p.L1018F|AGL_ENST00000361915.3_Missense_Mutation_p.L1018F|AGL_ENST00000370163.3_Missense_Mutation_p.L1018F|AGL_ENST00000361302.3_Missense_Mutation_p.L1002F|AGL_ENST00000361522.4_Missense_Mutation_p.L1001F|AGL_ENST00000370161.2_Missense_Mutation_p.L1002F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1018					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATACCACTCTTCTGGATAC	0.388000													10	72					0	0	0.006214	0	0
ILVBL	10994	broad.mit.edu	37	19	15233527	15233527	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15233527G>A	ENST00000263383.3	-	6	832	c.693C>T	c.(691-693)ggC>ggT	p.G231G	ILVBL_ENST00000534378.1_Silent_p.G124G|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	231						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						GGCCCACGAGGCCCTTGGGTG	0.622000													10	49					0	0	0.000978	0	0
TSSK4	283629	broad.mit.edu	37	14	24676702	24676702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:24676702C>T	ENST00000339917.5	+	3	1025	c.821C>T	c.(820-822)tCc>tTc	p.S274F	TSSK4_ENST00000556621.1_Missense_Mutation_p.S188F|TSSK4_ENST00000287913.6_Missense_Mutation_p.S264F|TM9SF1_ENST00000556387.1_Intron|TM9SF1_ENST00000530611.1_Intron|TSSK4_ENST00000428351.2_Intron	NM_001184739.1|NM_174944.3	NP_001171668.1|NP_777604.2	Q6SA08	TSSK4_HUMAN	testis-specific serine kinase 4	264	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		CATACCATCTCCCAGGAGTGC	0.532000													11	36					0	0	0.008291	0	0
EHMT1	79813	broad.mit.edu	37	9	140711965	140711965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:140711965C>T	ENST00000460843.1	+	24	3476	c.3449C>T	c.(3448-3450)aCc>aTc	p.T1150I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1150	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CCACCAGGCACCTTTGTCTGC	0.607000													6	51					0	0	0.003080	0	0
N4BP2	55728	broad.mit.edu	37	4	40108641	40108641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:40108641C>T	ENST00000261435.6	+	5	1911	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	499						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GAACCAGAATCGTGGTAAGAA	0.313000													9	36					0	0	0.004482	0	0
ZNF212	7988	broad.mit.edu	37	7	148947455	148947455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:148947455C>T	ENST00000335870.2	+	2	358	c.230C>T	c.(229-231)gCt>gTt	p.A77V		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AAGAAGCTGGCTGACTGCGAG	0.652000													12	63					0	0	0.001368	0	0
KIF26A	26153	broad.mit.edu	37	14	104624133	104624133	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:104624133C>T	ENST00000315264.7	+	3	738	c.360C>T	c.(358-360)gtC>gtT	p.V120V	KIF26A_ENST00000423312.2_Silent_p.V259V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	259					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGACACGGTCCGAGAATGCC	0.701000													6	16					0	0	0.001984	0	0
FLG	2312	broad.mit.edu	37	1	152279862	152279862	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152279862C>A	ENST00000368799.1	-	3	7535	c.7500G>T	c.(7498-7500)agG>agT	p.R2500S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2500	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGGCATCAGACCTTCCCTGGG	0.557000									Ichthyosis				38	292					3.61848e-18	4.14848e-18	0.007835	1	0
HTRA3	94031	broad.mit.edu	37	4	8304223	8304223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:8304223G>A	ENST00000307358.2	+	7	1289	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	362	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ATACGGATGCGGACGATCACA	0.592000													6	32					0	0	0.001168	0	0
ASTN1	460	broad.mit.edu	37	1	176852015	176852015	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:176852015C>T	ENST00000367654.2	-	20	3379	c.3366G>A	c.(3364-3366)ctG>ctA	p.L1122L	ASTN1_ENST00000367657.3_Silent_p.L1114L|ASTN1_ENST00000361833.2_Silent_p.L1114L|ASTN1_ENST00000424564.2_Silent_p.L1114L			O14525	ASTN1_HUMAN	astrotactin 1	1122	Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGTCAGGTTCCAGGCATCGTA	0.493000													5	52					0	0	0.001168	0	0
GLI2	2736	broad.mit.edu	37	2	121742241	121742241	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:121742241G>A	ENST00000452319.1	+	12	1938	c.1878G>A	c.(1876-1878)gaG>gaA	p.E626E	GLI2_ENST00000361492.4_Silent_p.E626E|GLI2_ENST00000314490.11_Silent_p.E298E|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	626					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)				GCGGCCCAGAGAGCACCGAGG	0.667000													6	37					0	0	0.003080	0	0
MCTP1	79772	broad.mit.edu	37	5	94275830	94275830	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:94275830G>A	ENST00000515393.1	-	5	1130	c.1131C>T	c.(1129-1131)ctC>ctT	p.L377L	MCTP1_ENST00000429576.2_Silent_p.L156L|MCTP1_ENST00000505208.1_Silent_p.L156L|MCTP1_ENST00000312216.8_Silent_p.L156L	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	377					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGATGACTGAGAGCAAAATGA	0.433000													45	115					0	0	0.003610	0	0
NUDT7	283927	broad.mit.edu	37	16	77759470	77759470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:77759470C>T	ENST00000268533.5	+	2	247	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	NUDT7_ENST00000564085.1_Missense_Mutation_p.R60W|NUDT7_ENST00000563839.1_Intron|NUDT7_ENST00000568787.1_Missense_Mutation_p.R60W|NUDT7_ENST00000437314.3_Missense_Mutation_p.R60W	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	60	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						GTTCACCGTCCGGTCAGAGAA	0.428000													5	35					0	0	0.000602	0	0
DOPEY1	23033	broad.mit.edu	37	6	83847360	83847360	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:83847360C>T	ENST00000349129.2	+	21	3859	c.3599C>T	c.(3598-3600)tCc>tTc	p.S1200F	DOPEY1_ENST00000237163.5_Missense_Mutation_p.S1181F|DOPEY1_ENST00000369739.3_Missense_Mutation_p.S1191F	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1200					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GAAGATGACTCCATTCAACAG	0.418000													20	45					0	0	0.008871	0	0
FAM210A	125228	broad.mit.edu	37	18	13681760	13681760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:13681760G>A	ENST00000322247.3	-	3	704	c.317C>T	c.(316-318)cCg>cTg	p.P106L	FAM210A_ENST00000402563.1_Missense_Mutation_p.P106L|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	106						integral to membrane											CTTTTTTTCCGGAGTTCCCTG	0.438000													25	110					0	0	0.006320	0	0
KCNAB1	7881	broad.mit.edu	37	3	156170718	156170718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:156170718C>T	ENST00000302490.8	+	3	1167	c.296C>T	c.(295-297)tCa>tTa	p.S99L	KCNAB1_ENST00000471742.1_Missense_Mutation_p.S106L|KCNAB1_ENST00000389634.5_Missense_Mutation_p.S99L|KCNAB1_ENST00000389636.5_Missense_Mutation_p.S117L|KCNAB1_ENST00000490337.1_Missense_Mutation_p.S117L	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	117						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GGTCAAATTTCAGATGAGGTA	0.363000													16	113					0	0	0.008871	0	0
TADA2A	6871	broad.mit.edu	37	17	35822210	35822210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:35822210C>T	ENST00000394395.2	+	10	870	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000417170.1_Missense_Mutation_p.L233F|TADA2A_ENST00000586023.1_Missense_Mutation_p.L233F|TADA2A_ENST00000225396.6_Missense_Mutation_p.L233F	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	233					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATTAATCAACCTTAGAAAGTT	0.239000													7	35					0	0	0.003080	0	0
MYH2	4620	broad.mit.edu	37	17	10436891	10436891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:10436891C>T	ENST00000245503.5	-	20	2623	c.2239G>A	c.(2239-2241)Gcc>Acc	p.A747T	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A747T|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	747	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(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						TTCTCAGAGGCCTTCTTGCTA	0.398000													11	55					0	0	0.008291	0	0
CES3	23491	broad.mit.edu	37	16	67006790	67006790	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:67006790C>T	ENST00000303334.4	+	13	1625	c.1554C>T	c.(1552-1554)ccC>ccT	p.P518P	CES3_ENST00000394037.1_Silent_p.P515P|CES3_ENST00000543856.1_Silent_p.P157P	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	518						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	p.P518P(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTCCTTGGCCCCAATTCAACC	0.602000													18	57					0	0	0.001523	0	0
TRAV10	28676	broad.mit.edu	37	14	22294006	22294006	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22294006G>A	ENST00000390432.2	+	0	146																											ATCCTGGAGGGAAAGAACTGC	0.463000													13	31					0	0	0.001855	0	0
ABCC11	85320	broad.mit.edu	37	16	48226442	48226442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48226442G>A	ENST00000394747.1	-	19	3044	c.2695C>T	c.(2695-2697)Ctc>Ttc	p.L899F	ABCC11_ENST00000356608.2_Missense_Mutation_p.L899F|ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.L899F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L899F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	899	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TTGTTGAAGAGCTTGTTGTGC	0.512000													7	43					0	0	0.004482	0	0
GPR142	350383	broad.mit.edu	37	17	72368044	72368044	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:72368044C>T	ENST00000335666.4	+	4	742	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	232						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						GGCTGTGGTGCGCACGGCCAA	0.642000													4	24					0	0	0.000248	0	0
TSPAN12	23554	broad.mit.edu	37	7	120428845	120428845	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:120428845A>G	ENST00000222747.3	-	8	1326	c.719T>C	c.(718-720)cTc>cCc	p.L240P	TSPAN12_ENST00000415871.1_Missense_Mutation_p.L240P	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	240					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AGTAATGGTGAGAATCATGGC	0.468000													7	67					0	0	0.001984	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													4	47					0	0	0.001168	0	0
AIPL1	23746	broad.mit.edu	37	17	6338369	6338369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:6338369C>T	ENST00000381129.3	-	1	136	c.56G>A	c.(55-57)gGg>gAg	p.G19E	AIPL1_ENST00000576307.1_Missense_Mutation_p.G19E|AIPL1_ENST00000250087.5_Missense_Mutation_p.G19E|AIPL1_ENST00000570466.1_Missense_Mutation_p.G19E|AIPL1_ENST00000574506.1_Missense_Mutation_p.G19E|AIPL1_ENST00000575265.1_Missense_Mutation_p.G19E|AIPL1_ENST00000571740.1_Missense_Mutation_p.G19E|AIPL1_ENST00000576776.1_Missense_Mutation_p.G19E	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	19					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		GCCCGTGCCCCCGTGCAGAAT	0.602000													7	24					0	0	0.004482	0	0
DNAH9	1770	broad.mit.edu	37	17	11622765	11622765	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:11622765C>T	ENST00000262442.3	+	27	5735	c.5667C>T	c.(5665-5667)atC>atT	p.I1889I	DNAH9_ENST00000454412.2_Silent_p.I1889I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1889	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACTGGGCATCCTGGTCTATG	0.627000													8	43					0	0	0.004482	0	0
TRAV39	28642	broad.mit.edu	37	14	22772281	22772281	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22772281G>A	ENST00000390466.1	+	0	174																											AGGATCCTGGGAAAAGTCTGG	0.473000													3	13					0	0	0.000248	0	0
EEPD1	80820	broad.mit.edu	37	7	36194329	36194329	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:36194329C>T	ENST00000242108.4	+	2	1114	c.396C>T	c.(394-396)ccC>ccT	p.P132P	EEPD1_ENST00000534978.1_Silent_p.P132P	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	132					DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CAGCTGTGCCCCTCACCCCAC	0.652000													8	27					0	0	0.003080	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886089	70886089	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:70886089C>T	ENST00000333538.5	+	5	1594	c.960C>T	c.(958-960)atC>atT	p.I320I	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	320	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTCTCCCCATCAGGTCTGTGG	0.612000													8	27					0	0	0.004482	0	0
GABRG1	2565	broad.mit.edu	37	4	46099293	46099293	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:46099293G>A	ENST00000295452.4	-	2	345	c.178C>T	c.(178-180)Cat>Tat	p.H60Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	60					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTCCTTCATGAATTTTTGGG	0.368000													25	112					0	0	0.004656	0	0
CHAF1A	10036	broad.mit.edu	37	19	4429574	4429574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:4429574C>T	ENST00000301280.5	+	9	1845	c.1744C>T	c.(1744-1746)Cgc>Tgc	p.R582C		NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	582					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCACTCATCCGCGCGCGAGA	0.622000								Chromatin Structure					6	32					0	0	0.003080	0	0
SIX4	51804	broad.mit.edu	37	14	61180337	61180337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:61180337G>A	ENST00000216513.4	-	3	2193	c.2134C>T	c.(2134-2136)Cgt>Tgt	p.R712C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	712						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)		AGAACCAAACGATGTTCTTGG	0.443000													11	32					0	0	0.000978	0	0
DCDC1	341019	broad.mit.edu	37	11	30938460	30938460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:30938460C>T	ENST00000597505.1	-	24	3408	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.E216K			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AGCCCTTTTTCCGTTTTCTTT	0.413000													17	30					0	0	0.004007	0	0
BDKRB1	623	broad.mit.edu	37	14	96730842	96730842	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96730842T>C	ENST00000216629.6	+	3	1429	c.823T>C	c.(823-825)Tta>Cta	p.L275L	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Intron	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	275					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		CCTGGAATTCTTATTCCAGGT	0.552000													11	61					0	0	0.000978	0	0
GCC1	79571	broad.mit.edu	37	7	127224625	127224625	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:127224625C>T	ENST00000321407.2	-	1	1036	c.612G>A	c.(610-612)gcG>gcA	p.A204A	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	204						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCTCCTCCTCCGCCTTGTTAC	0.547000											OREG0003809	type=REGULATORY REGION|Gene=GCC1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	22	103					0	0	0.001882	0	0
HELQ	113510	broad.mit.edu	37	4	84367225	84367225	+	Silent	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:84367225A>C	ENST00000295488.3	-	5	1569	c.1407T>G	c.(1405-1407)ggT>ggG	p.G469G	HELQ_ENST00000510985.1_Silent_p.G402G	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	469	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						GGCTTCCTTCACCAATCATGT	0.328000								Other identified genes with known or suspected DNA repair function					6	73					0	0	0.003080	0	0
VWA3B	200403	broad.mit.edu	37	2	98797639	98797639	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:98797639A>C	ENST00000477737.1	+	9	1479	c.1275A>C	c.(1273-1275)aaA>aaC	p.K425N	VWA3B_ENST00000435344.1_Missense_Mutation_p.K425N|VWA3B_ENST00000451075.2_Missense_Mutation_p.K275N	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	425										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGATATAAAAGCCAAACCGG	0.572000													10	82					0	0	0.001368	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561362	44561362	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:44561362G>A	ENST00000289547.4	-	12	2957	c.2902C>T	c.(2902-2904)Cgc>Tgc	p.R968C	NPC1L1_ENST00000546276.1_Missense_Mutation_p.R922C|NPC1L1_ENST00000381160.3_Missense_Mutation_p.R968C	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	968					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ATATAAAGGCGGCAGCAGGAG	0.597000													6	60					0	0	0.001168	0	0
SCN9A	6335	broad.mit.edu	37	2	167162325	167162325	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:167162325C>T	ENST00000303354.6	-	5	916	c.576G>A	c.(574-576)ctG>ctA	p.L192L	SCN9A_ENST00000409435.1_Silent_p.L191L|SCN9A_ENST00000409672.1_Silent_p.L191L|SCN9A_ENST00000375387.4_Silent_p.L192L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	191						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CGACAAAATCCAGCCAGTTCC	0.383000													13	28					0	0	0.001368	0	0
ARID4A	5926	broad.mit.edu	37	14	58813764	58813764	+	Silent	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:58813764A>G	ENST00000355431.3	+	14	1474	c.1101A>G	c.(1099-1101)caA>caG	p.Q367Q	ARID4A_ENST00000348476.3_Silent_p.Q367Q|ARID4A_ENST00000431317.2_Silent_p.Q367Q|ARID4A_ENST00000395168.3_Silent_p.Q367Q	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	367	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATGGAAGCAAATTTATATGG	0.264000													7	28					0	0	0.006214	0	0
PRAMEF19	645414	broad.mit.edu	37	1	13695911	13695911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:13695911G>A	ENST00000540591.1	-	3	1100	c.1054C>T	c.(1054-1056)Cag>Tag	p.Q352*	PRAMEF19_ENST00000376101.2_Nonsense_Mutation_p.Q283*	NM_001099790.1	NP_001093260.2			PRAME family member 19											lung(3)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGAGGGTCTGAAGAGTGGCA	0.537000													44	199					0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50734142	50734142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:50734142C>T	ENST00000442544.2	+	11	2432	c.1816C>T	c.(1816-1818)Ccg>Tcg	p.P606S	DCC_ENST00000581580.1_Missense_Mutation_p.P261S|DCC_ENST00000412726.1_Missense_Mutation_p.P454S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	606	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCGCTATGGTCCGGGCGTCTC	0.353000													12	100					0	0	0.001368	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133290	64133290	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:64133290G>A	ENST00000295902.6	-	7	1461	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PRICKLE2_ENST00000564377.1_Silent_p.L348L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	292	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCGCCCCAGGAGGGATTTCT	0.542000													24	57					0	0	0.004656	0	0
CDHR2	54825	broad.mit.edu	37	5	176005596	176005596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:176005596C>T	ENST00000510636.1	+	16	2079	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	CDHR2_ENST00000506348.1_Missense_Mutation_p.S602F|CDHR2_ENST00000261944.5_Missense_Mutation_p.S602F	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	602	Cadherin 6.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GGCAATGTCTCCGTGACCATC	0.612000													11	32					0	0	0.001855	0	0
AKAP8	10270	broad.mit.edu	37	19	15484089	15484089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:15484089G>A	ENST00000269701.2	-	5	494	c.434C>T	c.(433-435)cCc>cTc	p.P145L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	145					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GGGGCGGTAGGGGTTGTGCTC	0.642000													5	37					0	0	0.000602	0	0
WDR49	151790	broad.mit.edu	37	3	167196724	167196724	+	Missense_Mutation	SNP	C	C	T	rs76736291	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:167196724C>T	ENST00000308378.3	-	15	2341	c.2036G>A	c.(2035-2037)cGa>cAa	p.R679Q	WDR49_ENST00000479765.1_3'UTR|WDR49_ENST00000476376.1_Missense_Mutation_p.R504Q|SERPINI2_ENST00000476257.1_5'UTR|WDR49_ENST00000453925.2_Missense_Mutation_p.R644Q	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	679										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTTGGCTTTTCGTTCATGATG	0.318000													9	27					0	0	0.006214	0	0
COL12A1	1303	broad.mit.edu	37	6	75898978	75898978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:75898978G>A	ENST00000322507.8	-	7	1087	c.778C>T	c.(778-780)Cca>Tca	p.P260S	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.P260S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P260S	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	260	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TCTCTTGCTGGAATTTCCACT	0.373000													17	35					0	0	0.006122	0	0
GH2	2689	broad.mit.edu	37	17	61958244	61958244	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:61958244G>A	ENST00000332800.7	-	4	477	c.344C>T	c.(343-345)cCc>cTc	p.P115L	GH2_ENST00000423893.2_Missense_Mutation_p.P115L|GH2_ENST00000449787.2_Missense_Mutation_p.P100L|GH2_ENST00000456543.2_Missense_Mutation_p.P115L	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	115						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GAGCTGCACGGGCTCCAGCCA	0.632000													14	53					0	0	0.001855	0	0
ABI3BP	25890	broad.mit.edu	37	3	100595387	100595387	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:100595387C>T	ENST00000471714.1	-	7	844	c.735G>A	c.(733-735)agG>agA	p.R245R	ABI3BP_ENST00000495063.1_Silent_p.R245R|ABI3BP_ENST00000284322.5_Silent_p.R245R			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	245						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGATTAGTTTCCTTGGGACAT	0.358000													7	50					0	0	0.003080	0	0
SCG5	6447	broad.mit.edu	37	15	32935872	32935872	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:32935872T>C	ENST00000300175.4	+	2	189	c.79T>C	c.(79-81)Tac>Cac	p.Y27H	SCG5_ENST00000413748.2_Missense_Mutation_p.Y27H|SCG5_ENST00000497208.1_Missense_Mutation_p.Y27H|SCG5_ENST00000494364.1_Missense_Mutation_p.Y27H	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	27					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		AGCATTTGCTTACAGCCCCCG	0.532000													16	66					0	0	0.004007	0	0
PKD1L1	168507	broad.mit.edu	37	7	47847981	47847981	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47847981G>A	ENST00000289672.2	-	52	7741	c.7691C>T	c.(7690-7692)tCc>tTc	p.S2564F	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2564					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TCCAACCACGGAGAGCTGGAA	0.527000													6	30					0	0	0.001984	0	0
NDST4	64579	broad.mit.edu	37	4	115769495	115769495	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:115769495C>T	ENST00000264363.2	-	9	2495		c.e9-1			NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCAGTTGTTCCTGTTACAAAA	0.284000													15	52					0	0	0.003163	0	0
PAPPA2	60676	broad.mit.edu	37	1	176760600	176760600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:176760600G>A	ENST00000367662.3	+	19	6166	c.5002G>A	c.(5002-5004)Gaa>Aaa	p.E1668K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1668	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTACAAATGTGAACAAGGATA	0.388000													5	29					0	0	0.000602	0	0
LRIT2	340745	broad.mit.edu	37	10	85981712	85981712	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:85981712C>T	ENST00000372113.4	-	3	1622	c.1617G>A	c.(1615-1617)ggG>ggA	p.G539G	LRIT2_ENST00000538192.1_Silent_p.G549G	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	539						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TCTCCTTGTCCCCCTCAGTGT	0.582000													8	105					0	0	0.006214	0	0
RPL13A	23521	broad.mit.edu	37	19	49993749	49993749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:49993749C>T	ENST00000391857.4	+	4	248	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	58					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CCTGGCTTTCCTCCGCAAGCG	0.637000													9	30					0	0	0.008291	0	0
OLFM3	118427	broad.mit.edu	37	1	102270254	102270254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:102270254C>T	ENST00000370103.4	-	6	1130	c.917G>A	c.(916-918)cGa>cAa	p.R306Q	OLFM3_ENST00000338858.5_Missense_Mutation_p.R326Q|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	326	Olfactomedin-like.					extracellular region		p.R306Q(1)|p.R326Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CTCCAGGCTTCGTTGGGCAAG	0.438000													6	35					0	0	0.001984	0	0
RYR3	6263	broad.mit.edu	37	15	33765704	33765704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:33765704C>T	ENST00000389232.4	+	2	206	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	RYR3_ENST00000415757.3_Missense_Mutation_p.R46C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	46					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACTTGGGAATCGCCTGTGCTT	0.547000													7	45					0	0	0.003080	0	0
ZNF189	7743	broad.mit.edu	37	9	104171026	104171026	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:104171026C>T	ENST00000374861.3	+	3	1218	c.934C>T	c.(934-936)Cga>Tga	p.R312*	ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R326*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284*	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	326					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAAGCCTTTCGATTAAGCAC	0.398000													7	59					0	0	0.003080	0	0
PKD1L1	168507	broad.mit.edu	37	7	47894637	47894637	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47894637C>T	ENST00000289672.2	-	30	4752	c.4701_splice	c.e30-1	p.D1568_splice		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1568	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTCCTATTATCCTGTCATCAC	0.363000													12	38					0	0	0.002450	0	0
TAF1L	138474	broad.mit.edu	37	9	32632084	32632084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:32632084C>T	ENST00000242310.4	-	1	3583	c.3494G>A	c.(3493-3495)aGa>aAa	p.R1165K		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1165					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GACATCATCTCTGTGATTGTT	0.498000													4	38					0	0	0.000602	0	0
ROBO2	6092	broad.mit.edu	37	3	77656953	77656953	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:77656953G>A	ENST00000461745.1	+	21	4041	c.3141G>A	c.(3139-3141)ggG>ggA	p.G1047G	ROBO2_ENST00000487694.3_Silent_p.G1063G|ROBO2_ENST00000332191.8_Silent_p.G1047G|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1047					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			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)		TTTCAGGTGGGAAAGGTGGAA	0.393000													4	33					0	0	0.000602	0	0
CXCL10	3627	broad.mit.edu	37	4	76943918	76943918	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:76943918T>C	ENST00000306602.1	-	2	179	c.114A>G	c.(112-114)caA>caG	p.Q38Q	ART3_ENST00000341029.5_Intron	NM_001565.3	NP_001556.2	P02778	CXL10_HUMAN	chemokine (C-X-C motif) ligand 10	38					blood circulation|cell surface receptor linked signaling pathway|cell-cell signaling|chemotaxis|inflammatory response|muscle organ development|positive regulation of cell proliferation	extracellular space	cAMP-dependent protein kinase regulator activity|chemokine activity			kidney(1)|large_intestine(1)|lung(1)	3			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GATTAACAGGTTGATTACTAA	0.398000													14	44					0	0	0.002450	0	0
HABP2	3026	broad.mit.edu	37	10	115335736	115335736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:115335736C>T	ENST00000351270.3	+	4	400	c.304C>T	c.(304-306)Cct>Tct	p.P102S	HABP2_ENST00000542051.1_Missense_Mutation_p.P76S|HABP2_ENST00000537906.1_Silent_p.L90L|HABP2_ENST00000541666.1_Missense_Mutation_p.P102S	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	102	EGF-like 1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CTGCCTGGCTCCTTTCTCTGG	0.527000													12	51					0	0	0.000978	0	0
AKNA	80709	broad.mit.edu	37	9	117104355	117104355	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:117104355G>A	ENST00000307564.4	-	20	3969	c.3808C>T	c.(3808-3810)Cag>Tag	p.Q1270*	AKNA_ENST00000374075.5_Nonsense_Mutation_p.Q1189*|AKNA_ENST00000374088.3_Nonsense_Mutation_p.Q1270*|AKNA_ENST00000223791.3_Nonsense_Mutation_p.Q730*|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374079.4_Nonsense_Mutation_p.Q215*	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						AGGGGACACTGAAGGGTATCA	0.552000													14	38					0	0	0.003163	0	0
ZNF280A	129025	broad.mit.edu	37	22	22868490	22868490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:22868490C>T	ENST00000302097.3	-	2	1717	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACTTTTGTTTCACGAGGGAAC	0.433000													6	49					0	0	0.001984	0	0
AHCYL2	23382	broad.mit.edu	37	7	129046260	129046260	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:129046260C>T	ENST00000325006.3	+	10	1302	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	AHCYL2_ENST00000490911.1_Silent_p.S313S|AHCYL2_ENST00000531335.2_Silent_p.S335S|AHCYL2_ENST00000446212.1_Silent_p.S314S|AHCYL2_ENST00000474594.1_Silent_p.S313S|AHCYL2_ENST00000446544.2_Silent_p.S415S	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	416					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						CCATGGGCTCCATTGTGTATG	0.493000													21	71					0	0	0.002780	0	0
FBXO15	201456	broad.mit.edu	37	18	71797881	71797881	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:71797881G>A	ENST00000269500.5	-	4	452	c.117C>T	c.(115-117)atC>atT	p.I39I	FBXO15_ENST00000419743.2_Silent_p.I115I	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	39	F-box.									autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGTAGATTCCGATCCAAATAA	0.338000													4	18					0	0	0.000602	0	0
SCN7A	6332	broad.mit.edu	37	2	167304175	167304175	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:167304175G>A	ENST00000409855.1	-	11	1460	c.1334C>T	c.(1333-1335)tCc>tTc	p.S445F		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	445					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGTCTGTGGAAATTGGTGA	0.383000													18	63					0	0	0.002299	0	0
ZZEF1	23140	broad.mit.edu	37	17	3922983	3922983	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:3922983G>A	ENST00000381638.2	-	46	7609	c.7485C>T	c.(7483-7485)ttC>ttT	p.F2495F		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2495							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCTCCAGGAAGAAATAATCGG	0.562000													22	57					0	0	0.002299	0	0
HESX1	8820	broad.mit.edu	37	3	57233859	57233859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:57233859C>T	ENST00000295934.3	-	1	124	c.88G>A	c.(88-90)Gac>Aac	p.D30N	HESX1_ENST00000473921.1_Missense_Mutation_p.D30N	NM_003865.2	NP_003856.1	Q9UBX0	HESX1_HUMAN	HESX homeobox 1	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(2)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126)		TTCTTCTGGTCCAGTCCTAAG	0.488000													15	111					0	0	0.004007	0	0
SERPINB7	8710	broad.mit.edu	37	18	61468108	61468108	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:61468108G>A	ENST00000398019.2	+	7	931	c.606G>A	c.(604-606)ggG>ggA	p.G202G	SERPINB7_ENST00000336429.2_Silent_p.G202G|SERPINB7_ENST00000540675.1_Silent_p.G185G|SERPINB7_ENST00000546027.1_Silent_p.G202G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	202					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGTGCTCTGGGAAGGCAGTCG	0.363000													5	49					0	0	0.000602	0	0
MDGA1	266727	broad.mit.edu	37	6	37606051	37606051	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:37606051C>T	ENST00000434837.2	-	16	3884	c.2706G>A	c.(2704-2706)ggG>ggA	p.G902G	MDGA1_ENST00000297153.7_Silent_p.G906G|MDGA1_ENST00000505425.1_Silent_p.G902G	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	902	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						TGGCAATATCCCCCAGGTAGC	0.577000													7	24					0	0	0.006214	0	0
TRPM6	140803	broad.mit.edu	37	9	77403570	77403570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:77403570C>T	ENST00000451710.3	-	20	2864	c.2627G>A	c.(2626-2628)aGc>aAc	p.S876N	TRPM6_ENST00000361255.3_Missense_Mutation_p.S871N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.S871N|TRPM6_ENST00000360774.1_Missense_Mutation_p.S876N|TRPM6_ENST00000376864.4_Missense_Mutation_p.S876N|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	876					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GATGTAAATGCTAACAAGCCA	0.507000													9	36					0	0	0.004482	0	0
HTRA1	5654	broad.mit.edu	37	10	124248996	124248996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:124248996G>A	ENST00000368984.3	+	3	759	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	211	Serine protease.				proteolysis|regulation of cell growth	extracellular space	insulin-like growth factor binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				TATTGTGTCGGAAGATGGACT	0.493000													9	74					0	0	0.008291	0	0
CES1	1066	broad.mit.edu	37	16	55857487	55857487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:55857487G>A	ENST00000422046.2	-	4	792	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	CES1_ENST00000361503.4_Missense_Mutation_p.R171C|CES1_ENST00000360526.3_Missense_Mutation_p.R172C|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	171					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	ATGCCCAGGCGATATTGAATG	0.572000													5	51					0	0	0.000602	0	0
FAM150A	389658	broad.mit.edu	37	8	53454998	53454998	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:53454998G>A	ENST00000358543.4	-	2	448	c.198C>T	c.(196-198)ttC>ttT	p.F66F	FAM150A_ENST00000523939.1_Silent_p.F66F	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	66						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				AGTCTCTTGGGAATATTTCTG	0.274000													4	27					0	0	0.000248	0	0
ANKRD45	339416	broad.mit.edu	37	1	173628333	173628333	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:173628333G>A	ENST00000333279.2	-	2	285	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_198493.2	NP_940895.1	Q5TZF3	ANR45_HUMAN	ankyrin repeat domain 45	91										NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TTCTCCCAACGATGTCTTCTT	0.443000													27	55					0	0	0.004656	0	0
ANGPT4	51378	broad.mit.edu	37	20	861925	861925	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:861925G>A	ENST00000381922.3	-	5	942	c.840C>T	c.(838-840)ttC>ttT	p.F280F	ANGPT4_ENST00000546022.1_Silent_p.F280F	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	280					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGCCATTATGAAGGCTGCAA	0.567000													7	25					0	0	0.001984	0	0
DUSP13	51207	broad.mit.edu	37	10	76854536	76854536	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:76854536G>A	ENST00000491677.2	-	8	1424	c.882C>T	c.(880-882)atC>atT	p.I294I	DUSP13_ENST00000464872.1_Silent_p.I114I|DUSP13_ENST00000472493.2_Silent_p.I165I|DUSP13_ENST00000607131.1_Silent_p.I258I|DUSP13_ENST00000372700.3_Silent_p.I215I|DUSP13_ENST00000478873.2_Silent_p.I301I|DUSP13_ENST00000605915.1_Silent_p.I187I|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	156						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCACCGTCTGGATGGCCTCTA	0.622000													6	17					0	0	0.001984	0	0
SLC6A17	388662	broad.mit.edu	37	1	110717561	110717561	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:110717561G>A	ENST00000331565.4	+	5	1217	c.732G>A	c.(730-732)aaG>aaA	p.K244K		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	244					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGTCGTTAAGGGCATCCAGT	0.602000													9	29					0	0	0.006214	0	0
ENOSF1	55556	broad.mit.edu	37	18	677819	677819	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:677819G>A	ENST00000319815.6	-	5	1546	c.282C>T	c.(280-282)ttC>ttT	p.F94F	ENOSF1_ENST00000251101.7_Silent_p.F324F|ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Silent_p.F242F|ENOSF1_ENST00000580982.1_Silent_p.F248F|ENOSF1_ENST00000340116.7_Silent_p.F331F			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	324					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAATCTGGAGGAACTGCAGGG	0.473000													12	66					0	0	0.001368	0	0
LPO	4025	broad.mit.edu	37	17	56344874	56344874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:56344874G>A	ENST00000262290.4	+	12	2174	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K	LPO_ENST00000421678.2_Missense_Mutation_p.E537K|LPO_ENST00000543544.1_Missense_Mutation_p.E561K|LPO_ENST00000582328.1_Missense_Mutation_p.E537K	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	620					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GCCGCTGGTGGAAAGGGGTCG	0.602000													5	33					0	0	0.000602	0	0
TTN	7273	broad.mit.edu	37	2	179622509	179622509	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179622509C>T	ENST00000589042.1	-	45	10662	c.10438G>A	c.(10438-10440)Gag>Aag	p.E3480K	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E3434K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3164							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACTGTCTCCCCGTTGTGC	0.468000													8	116					0	0	0.003080	0	0
PECR	55825	broad.mit.edu	37	2	216908654	216908654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:216908654G>A	ENST00000265322.7	-	7	873	c.799C>T	c.(799-801)Ctc>Ttc	p.L267F		NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	267					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	TGAGTATAGAGACTCCGGCCC	0.493000													8	50					0	0	0.004482	0	0
OTOA	146183	broad.mit.edu	37	16	21709162	21709162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:21709162C>T	ENST00000388958.3	+	9	807	c.806C>T	c.(805-807)tCg>tTg	p.S269L	OTOA_ENST00000286149.4_Missense_Mutation_p.S269L|OTOA_ENST00000388956.4_Missense_Mutation_p.S190L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	269					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GTTCACCTATCGTTTGAAGAA	0.348000													4	58					0	0	0.001984	0	0
QSOX1	5768	broad.mit.edu	37	1	180165587	180165587	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:180165587G>A	ENST00000367602.3	+	12	1733	c.1659G>A	c.(1657-1659)agG>agA	p.R553R	QSOX1_ENST00000367600.5_Silent_p.R553R			O00391	QSOX1_HUMAN	quiescin Q6 sulfhydryl oxidase 1	553					cell redox homeostasis|protein thiol-disulfide exchange	extracellular space|integral to Golgi membrane	flavin-linked sulfhydryl oxidase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCCCGGAGGGATGTGCAGA	0.612000													14	100					0	0	0.001855	0	0
CTC-260E6.6	0	broad.mit.edu	37	19	20368605	20368605	+	RNA	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:20368605A>G	ENST00000593655.1	-	0	199																											GCAGGCTCCAACTTTCCAGAA	0.483000													7	44					0	0	0.003080	0	0
MMP2	4313	broad.mit.edu	37	16	55517950	55517950	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:55517950C>T	ENST00000219070.4	+	3	912	c.403C>T	c.(403-405)Ctg>Ttg	p.L135L	MMP2_ENST00000437642.2_Silent_p.L85L|MMP2_ENST00000543485.1_Silent_p.L59L|MMP2_ENST00000570308.1_Silent_p.L59L	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	135	Collagenase-like 1.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	CACACCTGATCTGGACCCAGA	0.498000													8	55					0	0	0.004482	0	0
PAN2	9924	broad.mit.edu	37	12	56720705	56720705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:56720705G>A	ENST00000425394.2	-	7	1334	c.958C>T	c.(958-960)Cca>Tca	p.P320S	PAN2_ENST00000548043.1_Missense_Mutation_p.P320S|PAN2_ENST00000440411.3_Missense_Mutation_p.P320S|PAN2_ENST00000257931.5_Missense_Mutation_p.P320S	NM_001127460.2	NP_001120932.1	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	320					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ATATCGGCTGGGTTGGCCAGG	0.527000													5	41					0	0	0.000602	0	0
LIMD1	8994	broad.mit.edu	37	3	45636773	45636773	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:45636773C>T	ENST00000273317.4	+	1	423	c.402C>T	c.(400-402)tcC>tcT	p.S134S	LIMD1_ENST00000440097.1_Silent_p.S134S|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	134	Mediates nuclear export.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		AGCAGAGATCCAGGCCATACC	0.657000													8	55					0	0	0.004482	0	0
PLCB4	5332	broad.mit.edu	37	20	9364892	9364892	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9364892G>A	ENST00000378501.2	+	11	913	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	PLCB4_ENST00000414679.2_Missense_Mutation_p.E300K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E300K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.E300K|PLCB4_ENST00000378493.1_Missense_Mutation_p.E300K|PLCB4_ENST00000378473.3_Missense_Mutation_p.E300K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	300					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GATGTCAGATGAAAACGCCCC	0.413000													8	64					0	0	0.008291	0	0
TNRC6C	57690	broad.mit.edu	37	17	76045228	76045228	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:76045228C>T	ENST00000335749.4	+	3	654	c.85C>T	c.(85-87)Caa>Taa	p.Q29*	TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.Q29*|TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.Q29*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.Q29*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.Q29*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.Q29*	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	29	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CGCACTCGTCCAAAGCCCTTC	0.557000													8	30					0	0	0.003080	0	0
ITGAX	3687	broad.mit.edu	37	16	31391663	31391663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:31391663C>T	ENST00000268296.4	+	27	3258	c.3137C>T	c.(3136-3138)aCc>aTc	p.T1046I	ITGAX_ENST00000562522.1_Missense_Mutation_p.T1046I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1046					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGGATTTCACCCTGAAGGGC	0.632000													3	15					0	0	0.000602	0	0
ZNF229	7772	broad.mit.edu	37	19	44934628	44934628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44934628C>T	ENST00000291187.4	-	6	632	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.E110K	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	110	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GCCACCTCTTCCCAGATTTTG	0.438000													6	44					0	0	0.001168	0	0
CDCP1	64866	broad.mit.edu	37	3	45134810	45134810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:45134810G>A	ENST00000296129.1	-	6	1720	c.1586C>T	c.(1585-1587)tCc>tTc	p.S529F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	529	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ACCCTGCCTGGAGGCCTCTTG	0.522000													15	40					0	0	0.006122	0	0
RENBP	5973	broad.mit.edu	37	X	153200958	153200958	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:153200958C>T	ENST00000393700.3	-	10	1229	c.1149G>A	c.(1147-1149)aaG>aaA	p.K383K	RENBP_ENST00000369997.3_Silent_p.K369K|RENBP_ENST00000412763.1_3'UTR	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	383					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	AAGGACCTCCCTTGATGGAGA	0.642000													13	32					0	0	0.004007	0	0
C3	718	broad.mit.edu	37	19	6718157	6718157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:6718157G>A	ENST00000245907.6	-	4	544	c.452C>T	c.(451-453)aCc>aTc	p.T151I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	151					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling 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)		GTGGTTGACGGTGAAGATCCG	0.662000													12	52					0	0	0.001855	0	0
ZNF285	26974	broad.mit.edu	37	19	44891413	44891413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44891413G>A	ENST00000330997.4	-	4	1058	c.994C>T	c.(994-996)Cac>Tac	p.H332Y	ZNF285_ENST00000544719.2_Missense_Mutation_p.H332Y|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.H339Y	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGATGGTTGTGAAGGGAAGAG	0.478000													24	56					0	0	0.003954	0	0
MOGAT3	346606	broad.mit.edu	37	7	100839531	100839531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100839531G>A	ENST00000223114.4	-	6	974	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	MOGAT3_ENST00000379423.3_Intron|MOGAT3_ENST00000440203.2_Missense_Mutation_p.R270C	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	270					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGAGACCGCGACCCCAGAAG	0.607000													3	14					0	0	0.004672	0	0
GK2	2712	broad.mit.edu	37	4	80327831	80327831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:80327831C>T	ENST00000358842.3	-	1	1541	c.1524G>A	c.(1522-1524)atG>atA	p.M508I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	508					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CCATTGACTTCATTACGGCTT	0.448000													15	43					0	0	0.004007	0	0
C10orf120	399814	broad.mit.edu	37	10	124457698	124457698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:124457698C>T	ENST00000329446.4	-	3	590	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	187										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTAAACCTTTCAATGTAGGGT	0.473000													8	55					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113323258	113323258	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:113323258T>A	ENST00000297405.5	-	50	8078	c.7834A>T	c.(7834-7836)Aag>Tag	p.K2612*	CSMD3_ENST00000455883.2_Nonsense_Mutation_p.K2508*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.K2542*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.K2572*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2612	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGGAAGACTTTCTGCACACA	0.458000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	43					0	0	0.001984	0	0
NUGGC	389643	broad.mit.edu	37	8	27888814	27888814	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:27888814C>T	ENST00000413272.2	-	15	1996	c.1854G>A	c.(1852-1854)ggG>ggA	p.G618G	NUGGC_ENST00000341513.6_Silent_p.G618G	NM_001010906.1	NP_001010906.1			nuclear GTPase, germinal center associated																		CACTTCTTATCCCAATTTCTG	0.463000													17	75					0	0	0.004007	0	0
AGAP4	119016	broad.mit.edu	37	10	46321385	46321385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:46321385C>T	ENST00000448048.2	-	7	2095	c.1970G>A	c.(1969-1971)gGc>gAc	p.G657D		NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	657					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			central_nervous_system(1)|lung(1)|ovary(1)	3						GTCGGGGCAGCCGTACTGCAG	0.522000													19	125					0	0	0.004656	0	0
CLN3	1201	broad.mit.edu	37	16	28493843	28493843	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:28493843G>A	ENST00000569430.1	-	13	1680	c.861C>T	c.(859-861)ccC>ccT	p.P287P	CLN3_ENST00000568224.1_Silent_p.P209P|CLN3_ENST00000354630.5_Intron|CLN3_ENST00000355477.5_Silent_p.P239P|CLN3_ENST00000333496.9_Silent_p.P263P|CLN3_ENST00000565316.1_Intron|CLN3_ENST00000357076.5_Silent_p.P177P|CLN3_ENST00000359984.7_Silent_p.P287P|CLN3_ENST00000567963.1_Silent_p.P287P|CLN3_ENST00000357857.9_Silent_p.P233P|CLN3_ENST00000535392.1_Silent_p.P209P|CLN3_ENST00000395653.4_Silent_p.P187P|CLN3_ENST00000360019.2_Silent_p.P287P|CLN3_ENST00000357806.7_Silent_p.P188P			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	287					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CTACGACCAAGGGAACAATGT	0.562000													5	38					0	0	0.000602	0	0
ENPEP	2028	broad.mit.edu	37	4	111431408	111431408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:111431408G>A	ENST00000265162.5	+	6	1544	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	401					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGTGGTTTGGAAATATTGTG	0.378000													13	31					0	0	0.002450	0	0
DNAH5	1767	broad.mit.edu	37	5	13913929	13913929	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:13913929A>C	ENST00000265104.4	-	11	1563	c.1459T>G	c.(1459-1461)Ttt>Gtt	p.F487V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	487	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGGGTTGTAAAGATGTCTATT	0.358000									Kartagener syndrome				9	58					0	0	0.004482	0	0
DIAPH1	1729	broad.mit.edu	37	5	140954566	140954566	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140954566G>A	ENST00000253811.6	-	15	1749	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	DIAPH1_ENST00000520569.1_Silent_p.L483L|DIAPH1_ENST00000518047.1_Silent_p.L528L|DIAPH1_ENST00000398557.4_Silent_p.L537L|DIAPH1_ENST00000398562.2_Silent_p.L528L|DIAPH1_ENST00000398566.3_Silent_p.L528L|DIAPH1_ENST00000389054.3_Silent_p.L537L|DIAPH1_ENST00000389057.5_Silent_p.L528L			O60610	DIAP1_HUMAN	diaphanous-related formin 1	537					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTTCCAGGTCCTGTTTC	0.488000													25	43					0	0	0.003954	0	0
GRAMD4	23151	broad.mit.edu	37	22	47062751	47062751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:47062751C>T	ENST00000406902.1	+	10	1052	c.839C>T	c.(838-840)cCc>cTc	p.P280L	GRAMD4_ENST00000361034.3_Missense_Mutation_p.P280L			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	280					apoptosis	integral to membrane|mitochondrial membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		AGCATCGTGCCCGAAGTGTCT	0.617000													9	98					0	0	0.004482	0	0
OLA1	29789	broad.mit.edu	37	2	175006601	175006601	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:175006601T>C	ENST00000284719.3	-	5	747	c.501A>G	c.(499-501)ctA>ctG	p.L167L	OLA1_ENST00000344357.5_Silent_p.L9L|OLA1_ENST00000409546.1_Silent_p.L187L|OLA1_ENST00000428402.2_Silent_p.L167L	NM_013341.3	NP_037473.3	Q9NTK5	OLA1_HUMAN	Obg-like ATPase 1	167					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						CCACCTTTTCTAGTTTATCTA	0.328000													14	50					0	0	0.003163	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370322	131370322	+	Silent	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:131370322A>G	ENST00000372739.3	+	33	4448	c.4338A>G	c.(4336-4338)gaA>gaG	p.E1446E	SPTAN1_ENST00000358161.5_Silent_p.E1446E|SPTAN1_ENST00000372731.4_Silent_p.E1446E	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1446					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGTGCCTTGAACTGCAGGTGT	0.532000													15	88					0	0	0.002450	0	0
EBF3	253738	broad.mit.edu	37	10	131640528	131640528	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:131640528G>A	ENST00000368648.3	-	13	1269	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	EBF3_ENST00000355311.5_Silent_p.I408I	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	408					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GCGCCTCGGCGATGTCCGCCG	0.662000													9	59					0	0	0.006214	0	0
MUC16	94025	broad.mit.edu	37	19	9074696	9074696	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:9074696C>T	ENST00000397910.4	-	3	12953	c.12750G>A	c.(12748-12750)acG>acA	p.T4250T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4252	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						CCTCCATATTCGTCACTGCTG	0.478000													6	47					0	0	0.001168	0	0
NEB	4703	broad.mit.edu	37	2	152425865	152425865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:152425865C>T	ENST00000427231.2	-	110	17654	c.17452G>A	c.(17452-17454)Gaa>Aaa	p.E5818K	NEB_ENST00000172853.10_Missense_Mutation_p.E4117K|NEB_ENST00000397345.3_Missense_Mutation_p.E5818K|NEB_ENST00000409198.1_Missense_Mutation_p.E4117K|NEB_ENST00000604864.1_Missense_Mutation_p.E5818K|NEB_ENST00000603639.1_Missense_Mutation_p.E5818K	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	5837					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGCAACCATTCCAAGTCAGCC	0.473000													13	39					0	0	0.003163	0	0
DNAJC6	9829	broad.mit.edu	37	1	65849957	65849957	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:65849957C>T	ENST00000395325.3	+	6	734	c.577C>T	c.(577-579)Cga>Tga	p.R193*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.R250*|DNAJC6_ENST00000498720.1_3'UTR|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.R180*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	193	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCCAGCCATTCGATTGCTATA	0.448000													12	43					0	0	0.001368	0	0
THOC5	8563	broad.mit.edu	37	22	29924434	29924434	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:29924434G>A	ENST00000490103.1	-	10	1069	c.947C>T	c.(946-948)gCc>gTc	p.A316V	THOC5_ENST00000397872.1_Missense_Mutation_p.A316V|THOC5_ENST00000397873.2_Missense_Mutation_p.A316V|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.A316V	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	316					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTCCTCCTCGGCATCTGAGTC	0.567000													27	62					0	0	0.001786	0	0
TOPBP1	11073	broad.mit.edu	37	3	133329853	133329853	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:133329853C>A	ENST00000260810.5	-	25	4299	c.4168G>T	c.(4168-4170)Gtt>Ttt	p.V1390F		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1390	BRCT 8.				DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						AATACCTCAACAATGCCAGAT	0.328000								Other conserved DNA damage response genes					10	129					3.07112e-06	3.49882e-06	0.000978	1	0
IGKV3D-20	28874	broad.mit.edu	37	2	90077815	90077815	+	RNA	SNP	C	C	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:90077815C>G	ENST00000390270.2	+	0	136																											TCCTGCTACTCTGGCTCCCAG	0.512000													77	304					0	0	0.003610	0	0
FNDC7	163479	broad.mit.edu	37	1	109275946	109275946	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:109275946C>T	ENST00000370017.3	+	10	2209	c.1932C>T	c.(1930-1932)atC>atT	p.I644I	FNDC7_ENST00000271311.2_Silent_p.I645I	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	645	Fibronectin type-III 8.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTAATGGCATCCGGATCTACT	0.498000													43	146					0	0	0.006999	0	0
DDX60L	91351	broad.mit.edu	37	4	169341442	169341442	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:169341442T>G	ENST00000511577.1	-	18	2731	c.2484A>C	c.(2482-2484)agA>agC	p.R828S	DDX60L_ENST00000260184.7_Missense_Mutation_p.R828S|DDX60L_ENST00000505890.1_Missense_Mutation_p.R828S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	828	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACAATAATCTCTTGTAAAAG	0.368000													3	15					0	0	0.004672	0	0
DCHS2	54798	broad.mit.edu	37	4	155155827	155155827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:155155827G>A	ENST00000357232.3	-	25	8611	c.8612C>T	c.(8611-8613)cCc>cTc	p.P2871L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2871					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGAAAAATTGGGAGTCATGCC	0.517000													15	103					0	0	0.003163	0	0
MYH7	4625	broad.mit.edu	37	14	23900816	23900816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:23900816C>T	ENST00000355349.3	-	8	872	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	237	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGTCGTTCCGGACGGTCTT	0.597000													8	103					0	0	0.003080	0	0
KCNU1	157855	broad.mit.edu	37	8	36766833	36766833	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:36766833G>A	ENST00000399881.3	+	21	2148	c.2111G>A	c.(2110-2112)cGa>cAa	p.R704Q		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	704						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGAAACGAACTGGCAAG	0.468000													20	127					0	0	0.001882	0	0
PKD1L2	114780	broad.mit.edu	37	16	81181855	81181855	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:81181855G>A	ENST00000533478.1	-	0	2916				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTCGCGACCCGGGGACGGGTG	0.587000													6	42					0	0	0.003080	0	0
ZNF214	7761	broad.mit.edu	37	11	7021272	7021272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:7021272G>A	ENST00000278314.4	-	3	1957	c.1642C>T	c.(1642-1644)Cat>Tat	p.H548Y	ZNF214_ENST00000536068.1_Missense_Mutation_p.H548Y	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	548					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TCTCCTGTATGGACCCTCTGA	0.418000													10	64					0	0	0.008291	0	0
LPIN1	23175	broad.mit.edu	37	2	11922584	11922584	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:11922584C>T	ENST00000256720.2	+	7	1200	c.1107C>T	c.(1105-1107)gcC>gcT	p.A369A	LPIN1_ENST00000396097.1_Silent_p.A99A|LPIN1_ENST00000396098.1_Silent_p.A411A|LPIN1_ENST00000425416.2_Silent_p.A375A|LPIN1_ENST00000449576.2_Silent_p.A454A|LPIN1_ENST00000396099.1_Silent_p.A411A	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	369					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		CCCCCTCTGCCAGTGTAGTCC	0.517000													13	40					0	0	0.006122	0	0
ABCC12	94160	broad.mit.edu	37	16	48167618	48167618	+	Missense_Mutation	SNP	G	G	A	rs145682279		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48167618G>A	ENST00000311303.3	-	7	1453	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	ABCC12_ENST00000416054.1_Missense_Mutation_p.R370C|ABCC12_ENST00000448542.1_Missense_Mutation_p.R370C	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	370	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGAGTTTGCGTCTCAGGAGG	0.577000													5	47					0	0	0.001168	0	0
ITSN1	6453	broad.mit.edu	37	21	35258600	35258600	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:35258600A>G	ENST00000381318.3	+	39	5141	c.4853A>G	c.(4852-4854)aAc>aGc	p.N1618S	ITSN1_ENST00000381285.4_Missense_Mutation_p.N1618S|ITSN1_ENST00000437442.2_Missense_Mutation_p.N1557S|ITSN1_ENST00000399367.3_Missense_Mutation_p.N1613S|ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1618	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GGAAAGAGCAACCCGTACTGT	0.468000													4	21					0	0	0.001168	0	0
DNAH7	56171	broad.mit.edu	37	2	196681503	196681503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:196681503G>A	ENST00000312428.6	-	51	9710	c.9610C>T	c.(9610-9612)Cgt>Tgt	p.R3204C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3204					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						GCAATAGGACGATAGCCCATG	0.433000													11	51					0	0	0.000978	0	0
FPR2	2358	broad.mit.edu	37	19	52272360	52272360	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:52272360G>A	ENST00000598776.1	+	2	1221	c.449G>A	c.(448-450)tGg>tAg	p.W150*	FPR2_ENST00000340023.6_Nonsense_Mutation_p.W150*|FPR2_ENST00000598953.1_Nonsense_Mutation_p.W150*	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	150					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GTCGGACCTTGGATTCTTGCT	0.493000													5	57					0	0	0.000602	0	0
P2RY2	5029	broad.mit.edu	37	11	72945204	72945204	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:72945204G>A	ENST00000311131.2	+	0	467				P2RY2_ENST00000393597.2_De_novo_Start_InFrame|P2RY2_ENST00000393596.2_De_novo_Start_InFrame	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2						activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGCAGGGCGATGGCAGCAG	0.632000													8	39					0	0	0.003080	0	0
XKR3	150165	broad.mit.edu	37	22	17288747	17288747	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:17288747A>C	ENST00000331428.5	-	2	319	c.217T>G	c.(217-219)Ttt>Gtt	p.F73V		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	73						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACAATAATAAAGCTGATGGTA	0.358000													9	42					0	0	0.004482	0	0
SLMAP	7871	broad.mit.edu	37	3	57893673	57893673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:57893673G>A	ENST00000295951.3	+	16	2679	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	SLMAP_ENST00000428312.1_Missense_Mutation_p.E505K|SLMAP_ENST00000494088.1_Intron|SLMAP_ENST00000449503.2_Missense_Mutation_p.E467K|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000495364.1_Missense_Mutation_p.E39K|SLMAP_ENST00000295952.3_Missense_Mutation_p.E488K|SLMAP_ENST00000416870.1_Intron			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	505					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCTTCGAAAGGAATTGATCGA	0.383000													13	16					0	0	0.002450	0	0
ZNF572	137209	broad.mit.edu	37	8	125989923	125989923	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:125989923C>T	ENST00000319286.5	+	3	1567	c.1413C>T	c.(1411-1413)acC>acT	p.T471T		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACAAATGTACCAGCTGTGAGA	0.458000										HNSCC(60;0.17)			11	116					0	0	0.001368	0	0
HIST1H2BM	8342	broad.mit.edu	37	6	27782846	27782846	+	Missense_Mutation	SNP	C	C	T	rs141452609	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:27782846C>T	ENST00000359465.4	+	1	25	c.25C>T	c.(25-27)Cca>Tca	p.P9S		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	9					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						CAAATCTGCTCCAGTCCCTAA	0.428000													5	51					0	0	0.001984	0	0
NLRP2	55655	broad.mit.edu	37	19	55505674	55505674	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:55505674G>A	ENST00000543010.1	+	11	2889	c.2746G>A	c.(2746-2748)Gat>Aat	p.D916N	NLRP2_ENST00000427260.2_Missense_Mutation_p.D893N|NLRP2_ENST00000391721.4_Missense_Mutation_p.D892N|NLRP2_ENST00000339757.7_Missense_Mutation_p.D894N|NLRP2_ENST00000538819.1_Missense_Mutation_p.D892N|NLRP2_ENST00000263437.6_Missense_Mutation_p.D913N|NLRP2_ENST00000537859.1_Missense_Mutation_p.D894N|NLRP2_ENST00000448584.2_Missense_Mutation_p.D916N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	916					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.D916N(2)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCTGCTGCGATCTCACAAA	0.468000													14	71					0	0	0.004007	0	0
HGD	3081	broad.mit.edu	37	3	120352073	120352073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:120352073G>A	ENST00000283871.5	-	13	1568	c.1109C>T	c.(1108-1110)cCc>cTc	p.P370L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	370					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGGTCCATGGGGGGTCATTGT	0.542000													14	75					0	0	0.002450	0	0
NOBOX	135935	broad.mit.edu	37	7	144098647	144098647	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:144098647C>T	ENST00000467773.1	-	4	335	c.336G>A	c.(334-336)gaG>gaA	p.E112E	NOBOX_ENST00000223140.5_Silent_p.E27E|NOBOX_ENST00000483238.1_Silent_p.E112E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	112					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCAGTTCCTCCTCCCCGGGTC	0.617000													8	47					0	0	0.003080	0	0
SPRR1B	6699	broad.mit.edu	37	1	153004923	153004923	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:153004923C>T	ENST00000307098.4	+	2	167	c.102C>T	c.(100-102)atC>atT	p.I34I	SPRR1B_ENST00000392661.3_Silent_p.I34I	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	34	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCATGCATCCCCAAAACCA	0.637000													18	101					0	0	0.001882	0	0
SLC35G5	83650	broad.mit.edu	37	8	11188858	11188858	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:11188858C>T	ENST00000382435.4	+	1	462	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN	solute carrier family 35, member G5	81	DUF6 1.					integral to membrane											TCTTCCACCTCCCTATTGCCC	0.617000													28	148					0	0	0.002096	0	0
SLC35F5	80255	broad.mit.edu	37	2	114500402	114500402	+	Missense_Mutation	SNP	G	G	C	rs149790536		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:114500402G>C	ENST00000245680.2	-	7	1030	c.617C>G	c.(616-618)cCg>cGg	p.P206R	SLC35F5_ENST00000409342.1_Missense_Mutation_p.P200R	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	206					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ATGACTTGACGGAAGCTGTCG	0.393000													9	46					0	0	0.004482	0	0
EYA4	2070	broad.mit.edu	37	6	133789870	133789870	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:133789870G>T	ENST00000531901.1	+	11	1200	c.971G>T	c.(970-972)gGt>gTt	p.G324V	EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000431403.2_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000367895.5_Splice_Site|EYA4_ENST00000430974.2_Missense_Mutation_p.G270V			O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	322					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		AACCAACCAGGTACAGATCTT	0.433000													20	54					2.54575e-18	2.9217e-18	0.001523	1	0
GSG1	83445	broad.mit.edu	37	12	13243455	13243455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:13243455C>T	ENST00000337630.6	-	2	374	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	GSG1_ENST00000396302.3_Missense_Mutation_p.E103K|GSG1_ENST00000457134.2_Missense_Mutation_p.E103K|GSG1_ENST00000432710.2_Missense_Mutation_p.E116K|GSG1_ENST00000351606.6_Missense_Mutation_p.E116K|GSG1_ENST00000324458.8_Missense_Mutation_p.E116K|GSG1_ENST00000537302.1_Missense_Mutation_p.E103K|GSG1_ENST00000396310.2_Missense_Mutation_p.E100K	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	103						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCACAGTTTCCTCACAGGAT	0.552000													7	35					0	0	0.003080	0	0
FOXS1	2307	broad.mit.edu	37	20	30432705	30432705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:30432705G>A	ENST00000375978.3	-	1	715	c.641C>T	c.(640-642)tCa>tTa	p.S214L		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	214					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCTGGGCATGAGGAAGATGA	0.617000													9	46					0	0	0.006214	0	0
DLGAP3	58512	broad.mit.edu	37	1	35334585	35334585	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:35334585G>A	ENST00000373347.1	-	9	2374	c.2106C>T	c.(2104-2106)gcC>gcT	p.A702A	DLGAP3_ENST00000235180.4_Silent_p.A702A			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	702					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAAACTGCAGGGCCTTGTCTT	0.677000													13	17					0	0	0.001368	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604085	54604085	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:54604085C>A	ENST00000474759.1	+	8	890	c.842C>A	c.(841-843)tCc>tAc	p.S281Y	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S281Y|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S187Y|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S281Y	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	281	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACAGTCTCATCCATTTTGGAT	0.453000													19	143					1.01871e-10	1.16424e-10	0.008871	1	0
SEC31B	25956	broad.mit.edu	37	10	102262191	102262191	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:102262191C>T	ENST00000370345.3	-	11	1327	c.1230G>A	c.(1228-1230)ctG>ctA	p.L410L	SEC31B_ENST00000451524.1_Silent_p.L410L	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	410					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		GCTGTGGCACCAGATGGGCAG	0.527000													6	41					0	0	0.001984	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24946942	24946942	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:24946942G>A	ENST00000289968.6	-	18	1812	c.1743C>T	c.(1741-1743)gaC>gaT	p.D581D	ARHGAP17_ENST00000303665.5_Silent_p.D503D|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	581	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CAGATACAGGGTCCTTCGGTT	0.493000													5	38					0	0	0.003080	0	0
ZBTB20	26137	broad.mit.edu	37	3	114070395	114070395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:114070395G>A	ENST00000462705.1	-	11	1132	c.311C>T	c.(310-312)gCc>gTc	p.A104V	ZBTB20_ENST00000471418.1_Missense_Mutation_p.A104V|ZBTB20_ENST00000357258.3_Missense_Mutation_p.A104V|ZBTB20_ENST00000481632.1_Missense_Mutation_p.A104V|ZBTB20_ENST00000474710.1_Missense_Mutation_p.A177V|ZBTB20_ENST00000464560.1_Missense_Mutation_p.A104V|ZBTB20_ENST00000393785.2_Missense_Mutation_p.A104V	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	177	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CAGGATGCTGGCGGCCGTGAG	0.592000													6	30					0	0	0.001168	0	0
GJA10	84694	broad.mit.edu	37	6	90604872	90604872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:90604872G>A	ENST00000369352.1	+	1	685	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	229					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAATATACTGGAAATATTTCA	0.403000													16	50					0	0	0.004007	0	0
SMC3	9126	broad.mit.edu	37	10	112361499	112361499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:112361499C>T	ENST00000361804.4	+	24	2875	c.2749C>T	c.(2749-2751)Cat>Tat	p.H917Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	917					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGCTATAAATCATGATACTAA	0.368000													7	68					0	0	0.006214	0	0
ACTG1	71	broad.mit.edu	37	17	79478095	79478095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:79478095G>A	ENST00000575842.1	-	4	1268	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ACTG1_ENST00000573283.1_Missense_Mutation_p.S281F|ACTG1_ENST00000331925.2_Missense_Mutation_p.S281F|ACTG1_ENST00000575087.1_Missense_Mutation_p.S281F|AC139149.1_ENST00000584254.1_RNA			P63261	ACTG_HUMAN	actin, gamma 1	281					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CTTCATGATGGAGTTGAAGGT	0.562000													26	50					0	0	0.007291	0	0
SPON1	10418	broad.mit.edu	37	11	14063082	14063082	+	RNA	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:14063082A>C	ENST00000310358.7	+	0	898							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		TAGACGAAGAAGAAACTCAGT	0.453000													10	115					0	0	0.008291	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539924	94539924	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:94539924G>A	ENST00000289495.5	+	1	715	c.499G>A	c.(499-501)Gga>Aga	p.G167R	PPP1R9A_ENST00000456331.2_Missense_Mutation_p.G167R|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.G167R|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.G167R|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.G167R|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.G167R	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	167						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGAGAAAGCTGGAGGGAGTGA	0.498000										HNSCC(28;0.073)			11	52					0	0	0.000978	0	0
GRIA4	2893	broad.mit.edu	37	11	105769100	105769100	+	Missense_Mutation	SNP	C	C	T	rs151104343	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:105769100C>T	ENST00000393127.2	+	7	1278	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	GRIA4_ENST00000428631.2_Missense_Mutation_p.R278C|GRIA4_ENST00000525187.1_Missense_Mutation_p.R278C|GRIA4_ENST00000393125.2_Missense_Mutation_p.R278C|GRIA4_ENST00000282499.5_Missense_Mutation_p.R278C|GRIA4_ENST00000530497.1_Missense_Mutation_p.R278C	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	278					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACTAATGGATCGCTGGAAGAA	0.358000													3	17					0	0	0.000602	0	0
PAIP1	10605	broad.mit.edu	37	5	43529889	43529889	+	Splice_Site	SNP	G	G	A	rs149920694		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:43529889G>A	ENST00000306846.3	-	10	1577	c.1346_splice	c.e10+1	p.P449_splice	PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000338972.4_Splice_Site_p.P337_splice|PAIP1_ENST00000436644.2_Splice_Site_p.P370_splice	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	449	PABPC1-interacting motif-1 (PAM1).				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					AAAACTTACGGATCACCAGCC	0.373000													9	43					0	0	0.008291	0	0
MMRN1	22915	broad.mit.edu	37	4	90856667	90856667	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:90856667G>A	ENST00000394980.1	+	7	2155	c.1836G>A	c.(1834-1836)gaG>gaA	p.E612E	MMRN1_ENST00000264790.2_Silent_p.E612E|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.E354E			Q13201	MMRN1_HUMAN	multimerin 1	612					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACACAGAAGAGAATTTACATG	0.338000													19	38					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179576075	179576075	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:179576075C>T	ENST00000589042.1	-	97	28112	c.27886_splice	c.e97-1	p.E9296_splice	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Splice_Site_p.E8052_splice|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Splice_Site_p.E8979_splice|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8979	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTTTGCTCTGTAGGAA	0.323000													4	42					0	0	0.000248	0	0
CCR5	1234	broad.mit.edu	37	3	46415077	46415077	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:46415077G>A	ENST00000343801.4	+	3	1041	c.684G>A	c.(682-684)aaG>aaA	p.K228K	CCR5_ENST00000445772.1_Silent_p.K228K|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.K228K	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	228			Missing.		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GAAATGAGAAGAAGAGGCACA	0.478000													26	219					0	0	0.005443	0	0
NLRC4	58484	broad.mit.edu	37	2	32476179	32476179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:32476179C>T	ENST00000404025.2	-	5	1242	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	NLRC4_ENST00000360906.5_Missense_Mutation_p.E252K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E252K			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	252	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGCTTGAATTCATTGTAGCCA	0.498000													13	80					0	0	0.001855	0	0
PVR	5817	broad.mit.edu	37	19	45157261	45157261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:45157261G>A	ENST00000425690.3	+	4	1116	c.817G>A	c.(817-819)Gag>Aag	p.E273K	CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000403059.4_Missense_Mutation_p.E273K|PVR_ENST00000344956.4_Missense_Mutation_p.E273K|PVR_ENST00000406449.4_Missense_Mutation_p.E273K	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	273	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CAGCAACCCAGAGCCCACAGG	0.602000													43	285					0	0	0.003610	0	0
SLC5A7	60482	broad.mit.edu	37	2	108614294	108614294	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:108614294G>A	ENST00000264047.2	+	5	725	c.448_splice	c.e5-1	p.G150_splice	SLC5A7_ENST00000409059.1_Splice_Site_p.G150_splice|SLC5A7_ENST00000540517.1_Splice_Site_p.G45_splice	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	150					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TTTGTTTCAGGAGCCACCATC	0.438000													67	226					0	0	0.003610	0	0
PDE3B	5140	broad.mit.edu	37	11	14865471	14865471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:14865471C>T	ENST00000282096.4	+	12	2772	c.2419C>T	c.(2419-2421)Cct>Tct	p.P807S	PDE3B_ENST00000455098.2_Missense_Mutation_p.P756S	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	807	Catalytic (By similarity).				cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCAAACATTCCTGCATTAGA	0.438000													32	61					0	0	0.002836	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008823	142008823	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142008823C>T	ENST00000390387.3	+	0	343																											CACATCAATTCCCTGGAGCTT	0.458000													7	45					0	0	0.001984	0	0
ACSM1	116285	broad.mit.edu	37	16	20673121	20673121	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:20673121G>A	ENST00000307493.4	-	6	1054	c.987C>T	c.(985-987)ttC>ttT	p.F329F	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Silent_p.F329F	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	329					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CATACCTGGTGAAATCCTGCT	0.388000													6	34					0	0	0.004482	0	0
KIF4B	285643	broad.mit.edu	37	5	154393533	154393533	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:154393533G>A	ENST00000435029.4	+	1	274	c.114G>A	c.(112-114)gaG>gaA	p.E38E		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	38	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCCGGGGAGACTCAGGTGG	0.527000													12	35					0	0	0.001855	0	0
MMP1	4312	broad.mit.edu	37	11	102662226	102662226	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:102662226C>T	ENST00000315274.6	-	8	1101	c.1033_splice	c.e8-1	p.G345_splice	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	345	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTACTTATTCCCTGCCAATCA	0.433000													35	76					0	0	0.002836	0	0
EGFL8	80864	broad.mit.edu	37	6	32135728	32135728	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:32135728C>T	ENST00000395512.1	+	9	982	c.877C>T	c.(877-879)Cga>Tga	p.R293*	EGFL8_ENST00000489721.1_3'UTR|PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Nonsense_Mutation_p.R293*			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	293						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CGTCAATCATCGATAAGAAGC	0.547000													36	232					0	0	0.004878	0	0
PTPRK	5796	broad.mit.edu	37	6	128505770	128505770	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:128505770G>A	ENST00000368227.3	-	7	1335	c.969C>T	c.(967-969)atC>atT	p.I323I	PTPRK_ENST00000368215.3_Silent_p.I323I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Silent_p.I323I|PTPRK_ENST00000368226.4_Silent_p.I323I|PTPRK_ENST00000532331.1_Silent_p.I323I|PTPRK_ENST00000368207.3_Silent_p.I323I|PTPRK_ENST00000368210.3_Silent_p.I323I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	323	Fibronectin type-III 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTTTCAGGATGATAGGACCAT	0.453000													32	66					0	0	0.002096	0	0
OR2F2	135948	broad.mit.edu	37	7	143632903	143632903	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143632903C>T	ENST00000408955.2	+	1	645	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GTGGACACCTCCTCCAATGAG	0.488000													15	49					0	0	0.004007	0	0
RDH16	8608	broad.mit.edu	37	12	57351060	57351060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57351060C>T	ENST00000398138.3	-	1	1043	c.187G>A	c.(187-189)Gag>Aag	p.E63K	RDH16_ENST00000360752.4_5'UTR	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	63					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						GCTCCTTTCTCCGTCAGACAT	0.597000													8	31					0	0	0.003080	0	0
PLXNC1	10154	broad.mit.edu	37	12	94641880	94641880	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:94641880C>T	ENST00000258526.4	+	13	2839	c.2590C>T	c.(2590-2592)Caa>Taa	p.Q864*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	864					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGAAAATTCAAGTATGTTT	0.498000													5	29					0	0	0.000602	0	0
DHX57	90957	broad.mit.edu	37	2	39053684	39053684	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:39053684G>A	ENST00000295373.6	-	15	2913	c.2787C>T	c.(2785-2787)atC>atT	p.I929I		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	929	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TCCCAGAATCGATAACATAGA	0.403000													10	44					0	0	0.001368	0	0
PLCB3	5331	broad.mit.edu	37	11	64023222	64023222	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:64023222C>T	ENST00000540288.1	+	8	730	c.627C>T	c.(625-627)tcC>tcT	p.S209S	PLCB3_ENST00000325234.5_Silent_p.S142S|PLCB3_ENST00000279230.6_Silent_p.S209S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	209					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ATGAGTTTTCCTTGGAAATCT	0.612000													15	90					0	0	0.006122	0	0
ZFAT	57623	broad.mit.edu	37	8	135649738	135649738	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:135649738G>A	ENST00000520727.1	-	4	677	c.378C>T	c.(376-378)atC>atT	p.I126I	ZFAT_ENST00000520214.1_Silent_p.I126I|ZFAT_ENST00000377838.3_Silent_p.I138I|ZFAT_ENST00000520356.1_Silent_p.I126I|ZFAT_ENST00000523399.1_Silent_p.I138I|ZFAT_ENST00000429442.2_Silent_p.I126I	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AATTCAGCACGATAATGCAGA	0.507000													13	72					0	0	0.001855	0	0
MROH7	374977	broad.mit.edu	37	1	55175713	55175713	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:55175713C>T	ENST00000421030.2	+	24	4110	c.3825C>T	c.(3823-3825)tcC>tcT	p.S1275S	MROH7_ENST00000454855.2_Silent_p.S793S|MROH7_ENST00000409996.1_Silent_p.S843S|MROH7_ENST00000414150.2_Intron	NM_001039464.2	NP_001034553.2			maestro heat-like repeat family member 7																		GGCAGAACTCCTGGCTGCCGC	0.617000													4	35					0	0	0.000248	0	0
KCNH5	27133	broad.mit.edu	37	14	63175152	63175152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:63175152C>T	ENST00000322893.7	-	11	2309	c.2041G>A	c.(2041-2043)Gat>Aat	p.D681N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	681					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTCTTCACATCACTGATCTTA	0.463000													13	43					0	0	0.001368	0	0
COL5A2	1290	broad.mit.edu	37	2	189927950	189927950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:189927950C>T	ENST00000374866.3	-	27	2091	c.1817G>A	c.(1816-1818)gGa>gAa	p.G606E		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	606					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCTCTGATTCCTATGGAGCC	0.507000													20	89					0	0	0.008871	0	0
ATP13A5	344905	broad.mit.edu	37	3	193036884	193036884	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:193036884G>A	ENST00000342358.4	-	17	2046	c.1929C>T	c.(1927-1929)ttC>ttT	p.F643F		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	643					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.F643L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GTTCCTGTGGGAAATTCTTGG	0.483000													35	90					0	0	0.004878	0	0
LY9	4063	broad.mit.edu	37	1	160786540	160786540	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:160786540C>G	ENST00000263285.5	+	5	1259	c.1229C>G	c.(1228-1230)tCa>tGa	p.S410*	LY9_ENST00000368040.1_Nonsense_Mutation_p.S62*|LY9_ENST00000368041.2_Intron|LY9_ENST00000368035.1_Nonsense_Mutation_p.S62*|LY9_ENST00000341032.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	410	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAAGGGGAATCACACCTCAAT	0.547000													10	48					0	0	0.008291	0	0
FAM83B	222584	broad.mit.edu	37	6	54805297	54805297	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:54805297G>A	ENST00000306858.7	+	5	1644	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	510										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AGCTACACCGGACTCAAATGG	0.423000													6	46					0	0	0.001168	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729163	66729163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:66729163C>T	ENST00000307102.5	+	3	902	c.371C>T	c.(370-372)cCg>cTg	p.P124L		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TGCAACTCTCCGTACATCGTG	0.512000													15	36					0	0	0.004007	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4455771	4455771	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:4455771G>A	ENST00000254718.4	-	6	1018	c.712C>T	c.(712-714)Cta>Tta	p.L238L	MYBBP1A_ENST00000381556.2_Silent_p.L238L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	238	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TCTGAGAATAGGTTCACGGAT	0.557000													12	42					0	0	0.002450	0	0
OR2M4	26245	broad.mit.edu	37	1	248402762	248402762	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248402762T>G	ENST00000306687.1	+	1	532	c.532T>G	c.(532-534)Ttc>Gtc	p.F178V		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCATCACTTTTTCTGTGATGT	0.433000													12	99					0	0	0.002450	0	0
HPX	3263	broad.mit.edu	37	11	6453013	6453013	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6453013G>A	ENST00000265983.3	-	9	1087	c.987C>T	c.(985-987)ttC>ttT	p.F329F		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	329	Hemopexin-like 5.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CCTTTGTCAGGAAGACATATA	0.517000													14	97					0	0	0.001855	0	0
TCF4	6925	broad.mit.edu	37	18	53070735	53070735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:53070735C>T	ENST00000354452.3	-	6	930	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	TCF4_ENST00000544241.2_Missense_Mutation_p.G37S|TCF4_ENST00000564403.2_Missense_Mutation_p.G107S|TCF4_ENST00000564999.1_Missense_Mutation_p.G107S|TCF4_ENST00000567880.1_Missense_Mutation_p.G107S|TCF4_ENST00000537578.1_Missense_Mutation_p.G83S|TCF4_ENST00000566286.1_Missense_Mutation_p.G105S|TCF4_ENST00000561992.1_5'UTR|TCF4_ENST00000564228.1_Missense_Mutation_p.G37S|TCF4_ENST00000356073.4_Missense_Mutation_p.G107S|TCF4_ENST00000540999.1_Missense_Mutation_p.G83S|TCF4_ENST00000398339.1_Missense_Mutation_p.G209S|TCF4_ENST00000565018.2_Missense_Mutation_p.G107S|TCF4_ENST00000566279.1_Missense_Mutation_p.G107S|TCF4_ENST00000543082.1_Missense_Mutation_p.G65S|TCF4_ENST00000568673.1_Missense_Mutation_p.G83S|TCF4_ENST00000568740.1_Missense_Mutation_p.G83S	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	107					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GAGTATGAGCCCCTTTCTGTT	0.408000													13	107					0	0	0.001368	0	0
MROH7	374977	broad.mit.edu	37	1	55167774	55167774	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:55167774C>T	ENST00000414150.2	+	20	3575	c.3297C>T	c.(3295-3297)gtC>gtT	p.V1099V	MROH7_ENST00000454855.2_Silent_p.V617V|MROH7_ENST00000421030.2_Silent_p.V1099V|MROH7_ENST00000409996.1_Silent_p.V667V					maestro heat-like repeat family member 7																		CACGAGAGGTCGTGCGCTCCT	0.612000													6	34					0	0	0.004482	0	0
KLKB1	3818	broad.mit.edu	37	4	187173248	187173248	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:187173248C>T	ENST00000264690.6	+	11	1409	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	KLKB1_ENST00000513864.1_Silent_p.L408L	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	408	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GCAGGTGAGCCTGCAGGTGAA	0.537000													6	62					0	0	0.001168	0	0
TCP10L	140290	broad.mit.edu	37	21	33951009	33951009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr21:33951009G>A	ENST00000300258.3	-	4	606	c.493C>T	c.(493-495)Cca>Tca	p.P165S	TCP10L_ENST00000491828.1_5'UTR	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						GTCACCTTTGGAGGAGCTGAA	0.473000													14	75					0	0	0.004007	0	0
PTPN5	84867	broad.mit.edu	37	11	18754841	18754841	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:18754841C>T	ENST00000396170.1	-	11	2327	c.1063G>A	c.(1063-1065)Gtg>Atg	p.V355M	PTPN5_ENST00000396171.4_Missense_Mutation_p.V387M|PTPN5_ENST00000358540.2_Missense_Mutation_p.V387M|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396167.2_Missense_Mutation_p.V355M|PTPN5_ENST00000477854.1_Missense_Mutation_p.V191M|PTPN5_ENST00000396168.1_Missense_Mutation_p.V363M	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	387	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCCTGCCACACCATGCGCCAG	0.597000													21	68					0	0	0.001882	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857172	9857172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:9857172G>A	ENST00000396573.2	-	14	4538	c.4229C>T	c.(4228-4230)tCg>tTg	p.S1410L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1410L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1410L|GRIN2A_ENST00000404927.2_3'UTR|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000562109.1_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1410					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAACAGTACGATGCCGTTGA	0.498000													5	43					0	0	0.000602	0	0
USP34	9736	broad.mit.edu	37	2	61441800	61441800	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:61441800G>A	ENST00000398571.2	-	68	8153	c.8077C>T	c.(8077-8079)Cca>Tca	p.P2693S	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2693					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GAATTGCTTGGTATAAGGGAC	0.413000													5	45					0	0	0.000602	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174533	150174533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:150174533G>A	ENST00000307271.3	+	5	2237	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	555						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTTTGGAGCAGACTTTACGAA	0.483000													4	69					0	0	0.001168	0	0
LCN10	414332	broad.mit.edu	37	9	139635770	139635770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:139635770C>T	ENST00000497771.1	-	3	356	c.301G>A	c.(301-303)Ggg>Agg	p.G101R	LCN10_ENST00000474369.1_Intron|LCN6_ENST00000435202.1_Intron|LCN10_ENST00000527229.1_Missense_Mutation_p.G101R	NM_001001712.2	NP_001001712.2	Q6JVE6	LCN10_HUMAN	lipocalin 10	95					transport	extracellular region	binding			breast(2)|cervix(1)|large_intestine(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTTCTTCCCGTCTTTCCTC	0.682000													4	28					0	0	0.000602	0	0
SLFN11	91607	broad.mit.edu	37	17	33690647	33690647	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:33690647C>T	ENST00000394566.1	-	4	452	c.180G>A	c.(178-180)gtG>gtA	p.V60V	SLFN11_ENST00000308377.4_Silent_p.V60V	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	60						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCATTCGAATCACTCCTCCTC	0.448000													16	98					0	0	0.006122	0	0
ANKEF1	63926	broad.mit.edu	37	20	10035229	10035229	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:10035229C>T	ENST00000378380.3	+	9	2483	c.2154C>T	c.(2152-2154)atC>atT	p.I718I	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Silent_p.I718I	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		AAGTGGATATCACATTTATTC	0.363000													4	40					0	0	0.001168	0	0
MUC6	4588	broad.mit.edu	37	11	1029567	1029567	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:1029567G>A	ENST00000421673.2	-	9	1114	c.1064C>T	c.(1063-1065)aCc>aTc	p.T355I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	355	TIL.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGCACTGGGTGACGGGCAC	0.642000													9	28					0	0	0.006214	0	0
PLCL1	5334	broad.mit.edu	37	2	198949102	198949102	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:198949102C>T	ENST00000428675.1	+	2	1259	c.861C>T	c.(859-861)atC>atT	p.I287I	PLCL1_ENST00000437704.2_Silent_p.I189I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	287					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTAAAGAAATCCAGAAGAGCA	0.408000													18	43					0	0	0.006122	0	0
CD200R1L	344807	broad.mit.edu	37	3	112548169	112548169	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:112548169C>T	ENST00000488794.1	-	4	635	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	CD200R1L_ENST00000398214.1_Missense_Mutation_p.E37K|CD200R1L_ENST00000448932.1_Missense_Mutation_p.E16K			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	37						integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						ATATTACCTTCTGCAAAAATT	0.423000													6	20					0	0	0.001168	0	0
INPP5F	22876	broad.mit.edu	37	10	121571402	121571402	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:121571402G>A	ENST00000361976.2	+	15	1987	c.1821G>A	c.(1819-1821)atG>atA	p.M607I		NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	607							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AAAGTTACATGAAGTTACTAC	0.453000													7	55					0	0	0.006214	0	0
SYTL1	84958	broad.mit.edu	37	1	27673962	27673962	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:27673962G>A	ENST00000543823.1	+	2	704	c.242G>A	c.(241-243)gGg>gAg	p.G81E	SYTL1_ENST00000318074.5_Missense_Mutation_p.G81E			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	81	RabBD.				exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGACAGGGGACTGGTTC	0.617000													12	52					0	0	0.000978	0	0
MAN1C1	57134	broad.mit.edu	37	1	26090398	26090398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:26090398G>A	ENST00000374332.4	+	7	1411	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	MAN1C1_ENST00000374329.1_Missense_Mutation_p.E132K|MAN1C1_ENST00000263979.3_Missense_Mutation_p.E181K	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	361					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CAGGAAGATCGAAAAGCCCTT	0.587000													24	71					0	0	0.006320	0	0
MAP3K12	7786	broad.mit.edu	37	12	53880233	53880233	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:53880233T>A	ENST00000267079.2	-	4	745	c.520A>T	c.(520-522)Atc>Ttc	p.I174F	MAP3K12_ENST00000547035.1_Missense_Mutation_p.I207F|MAP3K12_ENST00000547151.1_5'UTR|MAP3K12_ENST00000547488.1_Missense_Mutation_p.I207F	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	174	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TTGAAAGTGATGATGTTGGGG	0.587000													6	46					0	0	0.001168	0	0
ADORA1	134	broad.mit.edu	37	1	203134932	203134932	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:203134932C>T	ENST00000367236.4	+	3	1806	c.885C>T	c.(883-885)ttC>ttT	p.F295F	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.F295F|ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.F295F	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	295					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCCAGAAGTTCCGCGTCACCT	0.552000													7	40					0	0	0.001984	0	0
IGF1R	3480	broad.mit.edu	37	15	99500542	99500542	+	Silent	SNP	C	C	T	rs70958400		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:99500542C>T	ENST00000268035.6	+	21	4586	c.3975C>T	c.(3973-3975)gcC>gcT	p.A1325A	IGF1R_ENST00000558762.1_Silent_p.A1324A|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1325					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GACACAAGGCCGAGAACGGCC	0.682000													14	24					0	0	0.002450	0	0
EPHA10	284656	broad.mit.edu	37	1	38197142	38197142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:38197142C>T	ENST00000373048.4	-	7	1603	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	EPHA10_ENST00000540011.1_Missense_Mutation_p.G30E|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000427468.2_Missense_Mutation_p.G535E|EPHA10_ENST00000330210.7_Missense_Mutation_p.G30E	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	535	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCAGGATGGCCCCGGGGAAGC	0.597000													8	107					0	0	0.003080	0	0
SLC14A2	8170	broad.mit.edu	37	18	43224002	43224002	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:43224002C>T	ENST00000255226.6	+	10	2044	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L	SLC14A2_ENST00000586448.1_Silent_p.L410L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	410						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCATCTTCCTGCTCCTGAC	0.547000													11	90					0	0	0.001368	0	0
ZFP2	80108	broad.mit.edu	37	5	178359314	178359314	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:178359314G>A	ENST00000361362.2	+	5	1530	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	ZFP2_ENST00000503510.2_Missense_Mutation_p.A334T|ZFP2_ENST00000520301.1_Missense_Mutation_p.A334T|ZFP2_ENST00000523286.1_Missense_Mutation_p.A334T	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGTGGAAAAGCTTTCAGTAA	0.378000													10	21					0	0	0.006214	0	0
TAAR9	134860	broad.mit.edu	37	6	132859895	132859895	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:132859895C>T	ENST00000434551.1	+	0	467					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		ATTGTTCTTTCCTGGTTCTTT	0.413000													19	51					0	0	0.006122	0	0
ZNF831	128611	broad.mit.edu	37	20	57769657	57769657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:57769657C>T	ENST00000371030.2	+	1	3583	c.3583C>T	c.(3583-3585)Ccc>Tcc	p.P1195S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1195						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGTCCCTCTGCCCGCGGAGCA	0.637000													5	27					0	0	0.000602	0	0
CCDC67	159989	broad.mit.edu	37	11	93141502	93141502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:93141502G>A	ENST00000298050.3	+	12	1532	c.1432G>A	c.(1432-1434)Gga>Aga	p.G478R	CCDC67_ENST00000525646.1_Missense_Mutation_p.G220R	NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	478										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				TCATGTCAATGGAAAATCAAC	0.373000													3	3					0	0	0.004672	0	0
OOEP	441161	broad.mit.edu	37	6	74079101	74079101	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:74079101G>A	ENST00000370363.1	-	3	525	c.33C>T	c.(31-33)gaC>gaT	p.D11D	OOEP_ENST00000370359.5_Silent_p.D66D			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	66						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TTATGGCTCGGTCTGGGCCTA	0.537000													8	9					0	0	0.003080	0	0
SAMD9L	219285	broad.mit.edu	37	7	92763163	92763163	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:92763163C>T	ENST00000318238.4	-	5	3338	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	SAMD9L_ENST00000437805.1_Missense_Mutation_p.D708N|SAMD9L_ENST00000411955.1_Missense_Mutation_p.D708N	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	708										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTAACAAAATCTGAAGAATAG	0.323000													14	36					0	0	0.001855	0	0
HLTF	6596	broad.mit.edu	37	3	148792049	148792049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:148792049G>A	ENST00000310053.5	-	4	675	c.482C>T	c.(481-483)tCa>tTa	p.S161L	HLTF_ENST00000465259.1_Missense_Mutation_p.S161L|HLTF_ENST00000494055.1_Missense_Mutation_p.S161L|HLTF_ENST00000392912.2_Missense_Mutation_p.S161L	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	161					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CAACTGATCTGAAACCGCTTT	0.353000													13	35					0	0	0.001368	0	0
ITGA4	3676	broad.mit.edu	37	2	182374525	182374525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:182374525G>A	ENST00000397033.2	+	16	2266	c.1836G>A	c.(1834-1836)atG>atA	p.M612I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	612					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGACATAATGAAAAAAACAG	0.328000													6	38					0	0	0.001168	0	0
MARCH4	57574	broad.mit.edu	37	2	217142513	217142513	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:217142513G>A	ENST00000273067.4	-	3	2513	c.747C>T	c.(745-747)atC>atT	p.I249I		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	249						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAATACTGGCGATGAGGAAGA	0.562000													6	60					0	0	0.001168	0	0
GPC2	221914	broad.mit.edu	37	7	99773357	99773357	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:99773357G>A	ENST00000292377.2	-	3	653	c.486C>T	c.(484-486)acC>acT	p.T162T		NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	162						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AATCCGCCAGGGTGTCATCCA	0.602000													13	45					0	0	0.002450	0	0
EPHA4	2043	broad.mit.edu	37	2	222428586	222428586	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:222428586G>A	ENST00000281821.2	-	3	729	c.688C>T	c.(688-690)Cga>Tga	p.R230*	EPHA4_ENST00000392071.4_Nonsense_Mutation_p.R179*|EPHA4_ENST00000409854.1_Nonsense_Mutation_p.R230*|EPHA4_ENST00000409938.1_Nonsense_Mutation_p.R230*	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	230	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CAGGAGCCTCGAACTTCCACC	0.502000													11	72					0	0	0.000978	0	0
FAM198B	51313	broad.mit.edu	37	4	159092233	159092233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:159092233C>T	ENST00000296530.8	-	2	916	c.295G>A	c.(295-297)Ggg>Agg	p.G99R	FAM198B_ENST00000592057.1_Missense_Mutation_p.G99R|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000393807.5_Missense_Mutation_p.G99R|FAM198B_ENST00000585682.1_Missense_Mutation_p.G99R	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	99						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						AGAGTGGACCCATTGCCCTGG	0.622000													12	71					0	0	0.001368	0	0
SLC9B1	150159	broad.mit.edu	37	4	103822377	103822377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:103822377G>A	ENST00000296422.7	-	12	1586	c.1445C>T	c.(1444-1446)cCa>cTa	p.P482L	SLC9B1_ENST00000394789.3_Intron|SLC9B1_ENST00000512651.2_5'UTR	NM_139173.3	NP_631912.2	Q4ZJI4	NHDC1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	482						integral to membrane	solute:hydrogen antiporter activity	p.P482Q(1)									AGCTCCATTTGGAGCTGTGAT	0.443000													53	214					0	0	0.003610	0	0
KIF21B	23046	broad.mit.edu	37	1	200978068	200978068	+	Silent	SNP	C	C	T	rs150839616		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:200978068C>T	ENST00000332129.2	-	3	592	c.276G>A	c.(274-276)ggG>ggA	p.G92G	KIF21B_ENST00000422435.2_Silent_p.G92G|KIF21B_ENST00000360529.5_Silent_p.G92G|KIF21B_ENST00000461742.2_Silent_p.G92G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	92	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.G92G(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TGTACGTCTTCCCGGCCCCCG	0.612000													12	63					0	0	0.001855	0	0
CREB3L3	84699	broad.mit.edu	37	19	4159755	4159755	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:4159755C>T	ENST00000078445.2	+	4	699	c.552C>T	c.(550-552)ctC>ctT	p.L184L	CREB3L3_ENST00000602257.1_Silent_p.L184L|CREB3L3_ENST00000602147.1_Silent_p.L184L|CREB3L3_ENST00000595923.1_Silent_p.L183L|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	184					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCTCCTCCTTTCGGGCA	0.622000													7	56					0	0	0.003080	0	0
XYLT2	64132	broad.mit.edu	37	17	48433239	48433239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:48433239G>A	ENST00000017003.2	+	6	1235	c.1186G>A	c.(1186-1188)Gat>Aat	p.D396N	XYLT2_ENST00000507602.1_Missense_Mutation_p.D396N	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	396					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CATTGTGGTGGATGGCGGTTC	0.582000													22	30					0	0	0.001882	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204396825	204396825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:204396825G>A	ENST00000367187.3	-	32	5094	c.4538C>T	c.(4537-4539)tCc>tTc	p.S1513F	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.S1485F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1513					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTTTGTAGGAGATGGACAG	0.483000													36	109					0	0	0.008740	0	0
GCN1L1	10985	broad.mit.edu	37	12	120575528	120575528	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:120575528T>G	ENST00000300648.6	-	49	6496	c.6484A>C	c.(6484-6486)Agc>Cgc	p.S2162R		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2162					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTCAGGGCTGCGGGTGGCC	0.582000													8	24					0	0	0.003080	0	0
PCLO	27445	broad.mit.edu	37	7	82585784	82585784	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82585784C>T	ENST00000423517.2	-	5	4822	c.4485G>A	c.(4483-4485)gaG>gaA	p.E1495E	PCLO_ENST00000333891.8_Silent_p.E1495E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1426					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTCAGACTTCTCTTTATGGT	0.368000													7	40					0	0	0.001984	0	0
CCDC33	80125	broad.mit.edu	37	15	74627459	74627459	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:74627459G>A	ENST00000268082.4	+	9	1070	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	CCDC33_ENST00000558821.1_Silent_p.R316R|CCDC33_ENST00000398814.3_Intron|CCDC33_ENST00000321288.5_Intron			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	0							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TAGCTCCCAGGGGTTCAGGTG	0.602000													25	68					0	0	0.006320	0	0
SMOC2	64094	broad.mit.edu	37	6	168927053	168927053	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:168927053A>C	ENST00000354536.5	+	3	504	c.284A>C	c.(283-285)aAg>aCg	p.K95T	SMOC2_ENST00000356284.2_Missense_Mutation_p.K95T	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	95	Thyroglobulin type-1 1.				signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCCGAAAGGAAGTATACCCAG	0.507000													4	28					0	0	0.000248	0	0
COL12A1	1303	broad.mit.edu	37	6	75893246	75893246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:75893246C>T	ENST00000322507.8	-	10	1720	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.E471K|COL12A1_ENST00000416123.2_Missense_Mutation_p.E471K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	471	VWFA 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGTGAAATTTCAAAACTTTTT	0.353000													33	55					0	0	0.002096	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99117471	99117471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:99117471C>T	ENST00000394170.2	+	4	826	c.575C>T	c.(574-576)cCt>cTt	p.P192L	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P192L|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P192L	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	192					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CTCCAAGTTCCTTCCCTTCCC	0.532000													13	65					0	0	0.006122	0	0
ZNF667	63934	broad.mit.edu	37	19	56953336	56953336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:56953336G>A	ENST00000504904.3	-	7	1747	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF667_ENST00000292069.6_Missense_Mutation_p.S343L|ZNF667_ENST00000342634.3_Missense_Mutation_p.S471L|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CATCAGGGGTGAAATCCTATT	0.388000													9	68					0	0	0.004482	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834396	125834396	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:125834396G>A	ENST00000299308.3	+	2	459	c.451G>A	c.(451-453)Gac>Aac	p.D151N	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	151						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGATGACAGTGACCTTACGGA	0.537000													22	84					0	0	0.002780	0	0
GPR112	139378	broad.mit.edu	37	X	135469965	135469965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:135469965G>A	ENST00000394143.1	+	16	8134	c.7843G>A	c.(7843-7845)Gag>Aag	p.E2615K	GPR112_ENST00000412101.1_Missense_Mutation_p.E2410K|GPR112_ENST00000370652.1_Missense_Mutation_p.E2615K|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Missense_Mutation_p.E2410K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2615					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACTGACGGAGAGAATTCC	0.388000													19	30					0	0	0.008871	0	0
COLQ	8292	broad.mit.edu	37	3	15529735	15529735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:15529735G>A	ENST00000383785.2	-	3	424	c.299C>T	c.(298-300)tCc>tTc	p.S100F	COLQ_ENST00000383781.4_Missense_Mutation_p.S90F|COLQ_ENST00000603808.1_Missense_Mutation_p.S100F|COLQ_ENST00000435459.2_Missense_Mutation_p.S90F|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383787.2_Missense_Mutation_p.S100F|COLQ_ENST00000383788.5_Missense_Mutation_p.S100F			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	100	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						AGGCCCAGGGGAGCCTAGCGA	0.582000													17	59					0	0	0.007413	0	0
CELA3B	23436	broad.mit.edu	37	1	22303555	22303555	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:22303555C>T	ENST00000337107.6	+	1	42	c.23C>T	c.(22-24)tCc>tTc	p.S8F		NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	8					cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CTGCTCAGTTCCCTCCTCCTT	0.527000													60	176					0	0	0.003610	0	0
HERC2P3	283755	broad.mit.edu	37	15	20644055	20644055	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:20644055G>A	ENST00000428453.1	-	0	3404																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGGAATCAGGGAAGTAGTCCT	0.592000													5	12					0	0	0.001168	0	0
PZP	5858	broad.mit.edu	37	12	9345243	9345243	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:9345243G>A	ENST00000261336.2	-	12	1375	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	PZP_ENST00000381997.2_Silent_p.S318S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCCACTTAAGGAGAAAACAC	0.498000													12	61					0	0	0.001368	0	0
AOC2	314	broad.mit.edu	37	17	40997012	40997012	+	Silent	SNP	C	C	T	rs148771457	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:40997012C>T	ENST00000253799.3	+	1	396	c.369C>T	c.(367-369)atC>atT	p.I123I	AOC2_ENST00000452774.2_Silent_p.I123I	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	123					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CACTGGCCATCGTCCTCTTTG	0.662000													18	18					0	0	0.004990	0	0
KIF13B	23303	broad.mit.edu	37	8	29043814	29043814	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:29043814G>A	ENST00000524189.1	-	6	530	c.492C>T	c.(490-492)ccC>ccT	p.P164P	KIF13B_ENST00000521515.1_Silent_p.P164P	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	164	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTTACCCTTTGGGATCAAGAA	0.343000													28	106					0	0	0.001786	0	0
IL31RA	133396	broad.mit.edu	37	5	55204263	55204263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:55204263G>A	ENST00000396836.2	+	11	1717	c.1525G>A	c.(1525-1527)Gaa>Aaa	p.E509K	IL31RA_ENST00000447346.2_Intron|IL31RA_ENST00000297015.3_Missense_Mutation_p.E367K|IL31RA_ENST00000490985.1_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron			Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	0	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TAGCGAAGTGGAAAAAAACCC	0.473000													7	26					0	0	0.001984	0	0
AKAP3	10566	broad.mit.edu	37	12	4736365	4736365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:4736365G>A	ENST00000545990.2	-	5	2227	c.1703C>T	c.(1702-1704)cCc>cTc	p.P568L	AKAP3_ENST00000228850.1_Missense_Mutation_p.P568L	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	568					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AGATTCATCGGGAGCTACAGG	0.478000													4	41					0	0	0.000248	0	0
ZNF649	65251	broad.mit.edu	37	19	52394233	52394233	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:52394233T>A	ENST00000354957.3	-	5	1440	c.1156A>T	c.(1156-1158)Aag>Tag	p.K386*	ZNF649_ENST00000600738.1_Nonsense_Mutation_p.K358*|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		AGTCCTGACTTCTGTGAACAG	0.443000													18	50					0	0	0.001523	0	0
PAK7	57144	broad.mit.edu	37	20	9520187	9520187	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9520187G>A	ENST00000378429.3	-	11	2628	c.2082C>T	c.(2080-2082)ctC>ctT	p.L694L	PAK7_ENST00000353224.5_Silent_p.L694L|PAK7_ENST00000378423.1_Silent_p.L694L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	694	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GATGTCCGAGGAGTTCCTGGG	0.517000													30	147					0	0	0.002096	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996025	19996025	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:19996025G>A	ENST00000391403.2	-	1	1853	c.1750C>T	c.(1750-1752)Cct>Tct	p.P584S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	584						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GCTGAATCAGGATATGATTGT	0.478000													5	52					0	0	0.000602	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870136	51870136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:51870136G>A	ENST00000371497.5	+	2	1026	c.139G>A	c.(139-141)Gac>Aac	p.D47N	TSHZ2_ENST00000329613.6_Missense_Mutation_p.D44N|TSHZ2_ENST00000603338.2_Missense_Mutation_p.D44N	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	47					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGGTGGCAATGACACAGGGAC	0.537000													5	34					0	0	0.000602	0	0
PLCB4	5332	broad.mit.edu	37	20	9360769	9360769	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:9360769C>T	ENST00000378501.2	+	10	828	c.813C>T	c.(811-813)atC>atT	p.I271I	PLCB4_ENST00000414679.2_Silent_p.I271I|PLCB4_ENST00000278655.4_Silent_p.I271I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.I271I|PLCB4_ENST00000378493.1_Silent_p.I271I|PLCB4_ENST00000378473.3_Silent_p.I271I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	271					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CAATGCAGATCATTGAGATGT	0.299000													6	26					0	0	0.001984	0	0
PAPPA	5069	broad.mit.edu	37	9	118950283	118950283	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:118950283G>A	ENST00000328252.3	+	2	1635	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	422	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTGGGGATGAGAACTGTGACC	0.632000													7	32					0	0	0.001984	0	0
OR10J5	127385	broad.mit.edu	37	1	159505536	159505536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:159505536G>A	ENST00000334857.2	-	1	306	c.262C>T	c.(262-264)Cat>Tat	p.H88Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTTGGTTATGAAAAATGAGG	0.438000													8	52					0	0	0.008291	0	0
FAM221B	392307	broad.mit.edu	37	9	35819901	35819901	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:35819901T>A	ENST00000423537.2	-	4	1108	c.839A>T	c.(838-840)cAc>cTc	p.H280L	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	280										endometrium(2)|kidney(1)|lung(4)	7						GATGATCCGGTGCTCTCTCAA	0.522000													5	35					0	0	0.001984	0	0
TBC1D9	23158	broad.mit.edu	37	4	141555210	141555210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:141555210G>A	ENST00000442267.2	-	16	2712	c.2638C>T	c.(2638-2640)Cct>Tct	p.P880S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	880						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATGCCCAAGGAAAGAGAAGA	0.512000													4	13					0	0	0.000248	0	0
TMCC1	23023	broad.mit.edu	37	3	129547219	129547219	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:129547219C>T	ENST00000393238.3	-	3	343	c.3G>A	c.(1-3)atG>atA	p.M1I	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	1						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCGAAGGCTCCATCAGTAGAC	0.408000													20	39					0	0	0.007413	0	0
TRANK1	9881	broad.mit.edu	37	3	36899257	36899257	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36899257G>T	ENST00000301807.6	-	12	2071	c.174C>A	c.(172-174)aaC>aaA	p.N58K	TRANK1_ENST00000429976.2_Missense_Mutation_p.N608K|TRANK1_ENST00000428977.2_Missense_Mutation_p.N58K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	608					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCTCCTCCTGTTCTCCATCA	0.537000													17	100					9.16793e-09	1.04666e-08	0.004990	1	0
PRRG2	5639	broad.mit.edu	37	19	50086932	50086932	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:50086932C>T	ENST00000246794.5	+	3	388	c.219C>T	c.(217-219)tcC>tcT	p.S73S	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	73	Gla.					extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		AGAGGTGTTCCTGGGAAGAGG	0.577000													29	78					0	0	0.002096	0	0
KCNB2	9312	broad.mit.edu	37	8	73480034	73480034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:73480034C>T	ENST00000523207.1	+	2	653	c.65C>T	c.(64-66)cCa>cTa	p.P22L		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	22					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCCTTCCTCCAGAGCCTGTG	0.537000													11	61					0	0	0.008291	0	0
CSF2RB	1439	broad.mit.edu	37	22	37322096	37322096	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:37322096C>T	ENST00000262825.5	+	4	485	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CSF2RB_ENST00000406230.1_Missense_Mutation_p.R90C|CSF2RB_ENST00000536485.1_Missense_Mutation_p.R31C|CSF2RB_ENST00000403662.3_Missense_Mutation_p.R90C	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	90					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CCCCCATCCCCGCTGCGTGCC	0.607000													7	41					0	0	0.004482	0	0
BCL9L	283149	broad.mit.edu	37	11	118773223	118773223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:118773223G>A	ENST00000334801.3	-	6	2193	c.1229C>T	c.(1228-1230)tCc>tTc	p.S410F	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	410	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CGTCTGGAGGGACCGTTCCCG	0.687000													7	29					0	0	0.003080	0	0
IGKV4-1	28908	broad.mit.edu	37	2	89185514	89185514	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:89185514C>T	ENST00000390243.2	+	0	383																											AGGACAGCCTCCTAAGCTGCT	0.532000													57	29					0	0	0.003610	0	0
KCNT2	343450	broad.mit.edu	37	1	196395070	196395070	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:196395070G>A	ENST00000367433.5	-	11	1134	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*	KCNT2_ENST00000367431.4_Nonsense_Mutation_p.R345*|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Nonsense_Mutation_p.R345*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	345						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AGTACCCTTCGAACCTGTACA	0.383000													9	27					0	0	0.008291	0	0
CACNA1C	775	broad.mit.edu	37	12	2224708	2224708	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:2224708G>A	ENST00000399655.1	+	2	633	c.368G>A	c.(367-369)tGg>tAg	p.W123*	CACNA1C_ENST00000335762.5_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000480911.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000406454.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399603.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399591.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399637.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000402845.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399634.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000327702.7_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399641.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399601.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399621.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399606.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399595.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399644.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399629.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399597.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399649.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000344100.3_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000347598.4_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399617.1_Nonsense_Mutation_p.W123*|CACNA1C_ENST00000399638.1_Nonsense_Mutation_p.W123*	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	123					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ATTGTCGAATGGAAATATCCT	0.647000													3	24					0	0	0.000248	0	0
ZAN	7455	broad.mit.edu	37	7	100350464	100350464	+	RNA	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:100350464A>G	ENST00000542585.1	+	0	2884				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			CCCCAGAAAAACCCACCATCT	0.517000													9	39					0	0	0.004482	0	0
PNMA5	114824	broad.mit.edu	37	X	152159825	152159825	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:152159825C>T	ENST00000439251.1	-	2	756	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PNMA5_ENST00000535214.1_Silent_p.L106L|PNMA5_ENST00000361887.5_Silent_p.L106L|PNMA5_ENST00000452693.1_Silent_p.L106L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	106					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ggaagtagttcagtctactga	0.532000													25	64					0	0	0.002780	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596628	11596628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:11596628C>T	ENST00000294484.6	+	21	4202	c.4064C>T	c.(4063-4065)tCc>tTc	p.S1355F	PTCHD2_ENST00000304391.6_Silent_p.F241F|PTCHD2_ENST00000389575.3_Missense_Mutation_p.S1355F	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1355					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACCCGGACTTCCTTCCTCAAG	0.667000													8	14					0	0	0.004482	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939049	2939049	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:2939049C>T	ENST00000378404.2	+	1	1004	c.799C>T	c.(799-801)Cag>Tag	p.Q267*		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	267						cytoplasm|cytoskeleton		p.Q267E(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)		GTTCGTGCCCCAGCAGCTGGG	0.632000													5	88					0	0	0.000602	0	0
THSD7B	80731	broad.mit.edu	37	2	138330046	138330046	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:138330046C>T	ENST00000409968.1	+	17	3521	c.3343C>T	c.(3343-3345)Cca>Tca	p.P1115S	THSD7B_ENST00000272643.3_Missense_Mutation_p.P1118S|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.P1087S					thrombospondin, type I, domain containing 7B											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)		TGAAATTCCCCCAGAAACCCA	0.463000													4	21					0	0	0.000602	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537184	140537184	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140537184C>T	ENST00000539533.1	+	1	1608	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D																								GCGCCTCAGACCGCGGTTCTC	0.652000													18	41					0	0	0.006122	0	0
OR10A5	144124	broad.mit.edu	37	11	6867376	6867376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6867376C>T	ENST00000299454.4	+	1	494	c.463C>T	c.(463-465)Cct>Tct	p.P155S	OR10A5_ENST00000379831.2_Missense_Mutation_p.P159S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CCCAGGCTTTCCTGTAGCTAC	0.542000													11	71					0	0	0.008291	0	0
CGNL1	84952	broad.mit.edu	37	15	57744421	57744421	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:57744421A>G	ENST00000281282.5	+	6	2066	c.1988A>G	c.(1987-1989)gAg>gGg	p.E663G		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	663						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAAAAGGTGGAGGAGAACTCC	0.493000													10	20					0	0	0.008291	0	0
PRKAA2	5563	broad.mit.edu	37	1	57171786	57171786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:57171786C>T	ENST00000371244.4	+	8	1381	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	439					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding	p.R439C(1)		breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						ATACCATCTTCGTGTAAGAAG	0.294000													7	38					0	0	0.003080	0	0
SLITRK1	114798	broad.mit.edu	37	13	84455007	84455007	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:84455007G>A	ENST00000377084.2	-	1	1521	c.636C>T	c.(634-636)aaC>aaT	p.N212N		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	212	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AGTCCCAAGGGTTATCCTCTA	0.562000													5	38					0	0	0.001984	0	0
CA6	765	broad.mit.edu	37	1	9019055	9019055	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:9019055C>T	ENST00000377443.2	+	4	499	c.495C>T	c.(493-495)ttC>ttT	p.F165F	CA6_ENST00000377436.3_Silent_p.F165F|CA6_ENST00000476083.1_3'UTR|CA6_ENST00000377442.2_Silent_p.F105F	NM_001215.3	NP_001206.2	P23280	CAH6_HUMAN	carbonic anhydrase VI	165					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding	p.F165F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCAGCCTTCGTTGAGGTAA	0.408000													16	120					0	0	0.004990	0	0
CNKSR2	22866	broad.mit.edu	37	X	21450848	21450848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:21450848C>T	ENST00000425654.2	+	3	827	c.347C>T	c.(346-348)aCc>aTc	p.T116I	CNKSR2_ENST00000279451.4_Missense_Mutation_p.T116I|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T116I|CNKSR2_ENST00000379510.3_Missense_Mutation_p.T116I	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	116	CRIC.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GATGGGAGGACCAGCCGAAAA	0.448000													15	75					0	0	0.003163	0	0
MGAM	8972	broad.mit.edu	37	7	141721462	141721462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:141721462C>T	ENST00000475668.2	+	6	689	c.635C>T	c.(634-636)tCt>tTt	p.S212F	MGAM_ENST00000549489.2_Missense_Mutation_p.S212F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	212	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCTGCTGCTTCTTTGACCTAC	0.433000													9	61					0	0	0.006214	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129019852	129019852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:129019852G>A	ENST00000274487.4	+	18	2831	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	896	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCTTCACTATGAATACACTAT	0.453000													13	46					0	0	0.001855	0	0
TEC	7006	broad.mit.edu	37	4	48143371	48143371	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:48143371C>T	ENST00000381501.3	-	15	1693		c.e15+1			NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase						intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTTGGACATACCTGGCCATTC	0.363000													5	14					0	0	0.001168	0	0
RHBDL3	162494	broad.mit.edu	37	17	30616032	30616032	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:30616032G>A	ENST00000269051.4	+	4	530	c.516G>A	c.(514-516)ctG>ctA	p.L172L	RHBDL3_ENST00000536287.1_Silent_p.L74L|RHBDL3_ENST00000538145.1_Silent_p.L164L	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	172					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TCACGCTGCTGGAGGCAAGGA	0.602000													5	24					0	0	0.000602	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72498716	72498716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:72498716G>A	ENST00000373208.1	+	11	1727	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.R573Q	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	573	TSP type-1 1.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGCGGGGTGCGATCCCGCAGC	0.657000													4	32					0	0	0.000602	0	0
MYH1	4619	broad.mit.edu	37	17	10415854	10415854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:10415854C>T	ENST00000226207.5	-	12	1112	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	340	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCCAGAATTTCAATGGCACTC	0.398000													6	20					0	0	0.001168	0	0
OR2C3	81472	broad.mit.edu	37	1	247695611	247695611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:247695611G>A	ENST00000366487.3	-	2	564	c.203C>T	c.(202-204)cCc>cTc	p.P68L	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	68			P -> S (in dbSNP:rs6657127).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GTCCAGGAAGGGGAGGTTGGC	0.507000													7	47					0	0	0.003080	0	0
OR2A5	393046	broad.mit.edu	37	7	143748185	143748185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:143748185G>A	ENST00000408906.2	+	1	725	c.691G>A	c.(691-693)Ggg>Agg	p.G231R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GATCCAGTCTGGGGAGGGCCG	0.602000													26	90					0	0	0.004656	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008824	142008824	+	RNA	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:142008824C>T	ENST00000390387.3	+	0	344																											ACATCAATTCCCTGGAGCTTG	0.458000													7	46					0	0	0.001984	0	0
PCDHA6	56142	broad.mit.edu	37	5	140208960	140208960	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140208960G>A	ENST00000529310.1	+	1	1398	c.1284G>A	c.(1282-1284)cgG>cgA	p.R428R	PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.R428R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACCGCGCGGGACGGGGGCT	0.622000													31	87					0	0	0.008361	0	0
PLD5	200150	broad.mit.edu	37	1	242383350	242383350	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:242383350G>A	ENST00000442594.2	-	6	908	c.399C>T	c.(397-399)atC>atT	p.I133I	PLD5_ENST00000427495.1_Silent_p.I163I|PLD5_ENST00000536534.1_Silent_p.I225I	NM_152666.2	NP_689879.2	Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	225						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GTTTGTCCACGATCCAGAAGG	0.527000													11	40					0	0	0.008291	0	0
ZNF112	7665	broad.mit.edu	37	19	44833910	44833910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:44833910G>A	ENST00000354340.4	-	4	451	c.400C>T	c.(400-402)Ctc>Ttc	p.L134F	ZNF112_ENST00000536500.1_Missense_Mutation_p.L157F|ZNF112_ENST00000337401.4_Missense_Mutation_p.L140F|CTC-512J12.6_ENST00000588212.1_Missense_Mutation_p.L139F	NM_013380.3	NP_037512.3			zinc finger protein 112																		ACCTGGCCGAGGGAATTACCT	0.403000													7	34					0	0	0.003080	0	0
YLPM1	56252	broad.mit.edu	37	14	75266252	75266252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:75266252G>A	ENST00000325680.7	+	5	4376	c.4252G>A	c.(4252-4254)Gaa>Aaa	p.E1418K	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.E1223K	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		CCCCATGGCGGAACATATGCC	0.498000													17	152					0	0	0.006122	0	0
KCNS3	3790	broad.mit.edu	37	2	18113616	18113616	+	Silent	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:18113616G>T	ENST00000403915.1	+	3	1792	c.1341G>T	c.(1339-1341)cgG>cgT	p.R447R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Silent_p.R447R			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	447					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATGCACAGCGGATGCACACCT	0.448000													7	68					0.000157383	0.000178554	0.003080	1	0
MAGI1	9223	broad.mit.edu	37	3	65365122	65365122	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:65365122A>T	ENST00000330909.8	-	18	2892	c.2893T>A	c.(2893-2895)Tcg>Acg	p.S965T	MAGI1_ENST00000483466.1_Missense_Mutation_p.S965T|MAGI1_ENST00000497477.2_Missense_Mutation_p.S937T|MAGI1_ENST00000402939.2_Missense_Mutation_p.S937T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	965					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GTGTTCAGCGAGTTCTGGCTG	0.682000													10	40					0	0	0.006214	0	0
LEKR1	389170	broad.mit.edu	37	3	156745976	156745976	+	Missense_Mutation	SNP	C	C	T	rs137970825	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:156745976C>T	ENST00000470811.1	+	13	1876	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	LEKR1_ENST00000356539.4_Missense_Mutation_p.R485W			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	77										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATCCCATATTCGGTACACTGA	0.338000													4	29					0	0	0.000602	0	0
KCNN3	3782	broad.mit.edu	37	1	154687452	154687452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:154687452G>A	ENST00000271915.3	-	6	2044	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W	KCNN3_ENST00000358505.2_Missense_Mutation_p.R264W|KCNN3_ENST00000361147.4_Missense_Mutation_p.R272W	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	582	Calmodulin-binding (By similarity).					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			CATGTTTCCCGAAGGACATTG	0.403000													27	67					0	0	0.006320	0	0
DENND3	22898	broad.mit.edu	37	8	142188236	142188236	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:142188236C>A	ENST00000519811.1	+	16	2847	c.2777C>A	c.(2776-2778)tCa>tAa	p.S926*	DENND3_ENST00000424248.1_Nonsense_Mutation_p.S794*|DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000262585.2_Nonsense_Mutation_p.S846*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	846										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ACACTGCAGTCACCAGGCGCC	0.507000													4	18					0.00024832	0.000281136	0.000248	1	0
ABCA7	10347	broad.mit.edu	37	19	1046387	1046387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:1046387C>T	ENST00000263094.6	+	13	1835	c.1604C>T	c.(1603-1605)cCg>cTg	p.P535L	ABCA7_ENST00000433129.1_Missense_Mutation_p.P535L|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000435683.2_Missense_Mutation_p.P397L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	535					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCCCTATCCGTGCTATGTG	0.697000													26	160					0	0	0.006320	0	0
OR2T2	401992	broad.mit.edu	37	1	248616379	248616379	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248616379C>T	ENST00000342927.3	+	1	303	c.281C>T	c.(280-282)tCc>tTc	p.S94F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACCATTTCCTTCCTGGGC	0.522000													15	339					0	0	0.004990	0	0
PCLO	27445	broad.mit.edu	37	7	82764634	82764634	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82764634C>T	ENST00000423517.2	-	3	2569	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	PCLO_ENST00000333891.8_Silent_p.Q744Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	690	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGCCTTGTCCTGCTCAGATG	0.517000													6	50					0	0	0.001984	0	0
PKHD1	5314	broad.mit.edu	37	6	51491840	51491840	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:51491840G>A	ENST00000371117.3	-	66	12015	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3914					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATTCTCGGCGTTTGGAT	0.438000													11	109					0	0	0.008291	0	0
SUV420H1	51111	broad.mit.edu	37	11	67939171	67939171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:67939171C>T	ENST00000304363.4	-	7	1012	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	SUV420H1_ENST00000405515.1_Missense_Mutation_p.R220Q|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R220Q|SUV420H1_ENST00000402185.2_Missense_Mutation_p.R197Q|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R220Q	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	220	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TTTGTCATTTCGTTTCCTATT	0.299000													7	32					0	0	0.001984	0	0
KHDC1L	100129128	broad.mit.edu	37	6	73935121	73935121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:73935121C>T	ENST00000423730.3	-	4	754	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	KHDC1L_ENST00000370388.3_Missense_Mutation_p.G4E|KHDC1L_ENST00000471312.1_5'UTR																							AGCACTCGTTCCCACGGCCAT	0.532000													11	10					0	0	0.001368	0	0
COL28A1	340267	broad.mit.edu	37	7	7571504	7571504	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:7571504G>A	ENST00000399429.3	-	3	296	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	52	VWFA 1.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCTGTCCACGATGAAGACAA	0.363000													8	36					0	0	0.006214	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822622	16822622	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:16822622C>T	ENST00000355661.3	-	17	2318	c.2307_splice	c.e17-1	p.E770_splice	PLEKHA7_ENST00000448080.2_Splice_Site_p.E770_splice|PLEKHA7_ENST00000531066.1_Splice_Site_p.E770_splice|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	770					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TTTTCCATCTCCTGTTGGCCA	0.517000													21	113					0	0	0.001882	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18066664	18066664	+	Silent	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:18066664A>G	ENST00000506618.2	-	1	822	c.742T>C	c.(742-744)Ttg>Ctg	p.L248L		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	248					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CCATGAGTCAAGATAGCATAA	0.458000													12	50					0	0	0.001368	0	0
TM4SF1	4071	broad.mit.edu	37	3	149093295	149093295	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:149093295T>C	ENST00000472441.1	-	1	204	c.81A>G	c.(79-81)gcA>gcG	p.A27A	TM4SF1_ENST00000305366.3_Silent_p.A116A			P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	116						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTGGTCCTTCTGCTAAGCCAA	0.478000													15	33					0	0	0.003163	0	0
NRAS	4893	broad.mit.edu	37	1	115256527	115256527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:115256527C>T	ENST00000369535.4	-	3	437	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	62					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTACTCTTCTTGTCCAGCT	0.458000		50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			33	123					0	0	0.001786	0	0
OR4F17	81099	broad.mit.edu	37	19	110688	110688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:110688G>A	ENST00000585993.1	+	2	149	c.10G>A	c.(10-12)Gaa>Aaa	p.E4K	OR4F17_ENST00000318050.3_Missense_Mutation_p.E4K			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATGGTGACTGAATTCATTTT	0.388000													9	335					0	0	0.008291	0	0
NLRP2	55655	broad.mit.edu	37	19	55497556	55497556	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:55497556C>T	ENST00000543010.1	+	8	2382	c.2239C>T	c.(2239-2241)Ctc>Ttc	p.L747F	NLRP2_ENST00000427260.2_Missense_Mutation_p.L724F|NLRP2_ENST00000391721.4_Missense_Mutation_p.L723F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L725F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L723F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L744F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L725F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L747F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	747					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TCATCGGAACCTCTGCCTAGC	0.443000													7	23					0	0	0.001984	0	0
ZPBP	11055	broad.mit.edu	37	7	50057911	50057911	+	Splice_Site	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:50057911A>C	ENST00000046087.2	-	6	777	c.706_splice	c.e6-1	p.V236_splice	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Splice_Site_p.V235_splice	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	236					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CTAGAGATGAAACTGAGAAAA	0.303000													4	43					0	0	0.000248	0	0
GP2	2813	broad.mit.edu	37	16	20329667	20329667	+	Missense_Mutation	SNP	C	C	T	rs17853083		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:20329667C>T	ENST00000302555.5	-	7	1242	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	GP2_ENST00000381360.5_Missense_Mutation_p.E221K|GP2_ENST00000381362.4_Missense_Mutation_p.E368K|GP2_ENST00000341642.5_Missense_Mutation_p.E218K			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	368	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GCATCCCCTTCGTAAGGATTC	0.507000													15	102					0	0	0.006122	0	0
FAM49A	81553	broad.mit.edu	37	2	16740730	16740730	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:16740730C>T	ENST00000381323.3	-	10	1055	c.835G>A	c.(835-837)Gat>Aat	p.D279N	FAM49A_ENST00000355549.2_Missense_Mutation_p.D279N|FAM49A_ENST00000406434.1_Missense_Mutation_p.D279N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	279						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			ATTCTTACATCGATCTTGGAT	0.483000													6	83					0	0	0.001984	0	0
MUM1L1	139221	broad.mit.edu	37	X	105449518	105449518	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:105449518G>A	ENST00000337685.2	+	5	878	c.93G>A	c.(91-93)agG>agA	p.R31R	MUM1L1_ENST00000372552.1_Silent_p.R31R|MUM1L1_ENST00000357175.2_Silent_p.R31R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	31										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ACAGTAAGAGGAAAAAGGCAT	0.353000													3	6					0	0	0.000248	0	0
EFHB	151651	broad.mit.edu	37	3	19959793	19959793	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:19959793C>T	ENST00000295824.9	-	4	1269	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.D240N	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	370					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						GGTGCTTGATCGTGAGATTTT	0.378000													77	230					0	0	0.003610	0	0
FOXP3	50943	broad.mit.edu	37	X	49113391	49113391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:49113391C>T	ENST00000376207.4	-	5	720	c.533G>A	c.(532-534)aGg>aAg	p.R178K	FOXP3_ENST00000376199.2_Missense_Mutation_p.R143K|FOXP3_ENST00000518685.1_Missense_Mutation_p.R143K|FOXP3_ENST00000376197.1_Missense_Mutation_p.R128K|FOXP3_ENST00000557224.1_Missense_Mutation_p.R143K|FOXP3_ENST00000455775.2_Missense_Mutation_p.R178K	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	178					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CCTGTCCTTCCTGGGTGCACT	0.657000													11	11					0	0	0.001368	0	0
PTPRK	5796	broad.mit.edu	37	6	128312513	128312513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:128312513C>T	ENST00000368227.3	-	21	3322	c.2956G>A	c.(2956-2958)Gat>Aat	p.D986N	PTPRK_ENST00000368215.3_Missense_Mutation_p.D968N|PTPRK_ENST00000368213.5_Missense_Mutation_p.D975N|PTPRK_ENST00000368226.4_Missense_Mutation_p.D969N|PTPRK_ENST00000532331.1_Missense_Mutation_p.D991N|PTPRK_ENST00000368207.3_Missense_Mutation_p.D1001N|PTPRK_ENST00000368210.3_Missense_Mutation_p.D987N			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	968	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCCAGAAATCATACACTGTT	0.328000													5	29					0	0	0.000602	0	0
LCT	3938	broad.mit.edu	37	2	136594498	136594498	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:136594498G>A	ENST00000264162.2	-	1	252	c.242C>T	c.(241-243)gCc>gTc	p.A81V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	81					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GATCTGACTGGCATGGAGACT	0.507000													12	40					0	0	0.001855	0	0
HOXA3	3200	broad.mit.edu	37	7	27149901	27149901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:27149901G>A	ENST00000396352.4	-	2	558	c.359C>T	c.(358-360)cCg>cTg	p.P120L	HOXA3_ENST00000317201.2_Missense_Mutation_p.P120L|HOXA-AS2_ENST00000518088.1_RNA	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	120	Pro-rich.				angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						AGAGggaggcgggggcgcggc	0.731000													6	16					0	0	0.001168	0	0
OR6B3	150681	broad.mit.edu	37	2	240985478	240985478	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:240985478C>T	ENST00000319423.4	-	1	11	c.12G>A	c.(10-12)gaG>gaA	p.E4E		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TGGTGACATTCTCCCCACTCA	0.597000													5	37					0	0	0.000602	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256610	32256610	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:32256610C>T	ENST00000360482.2	-	16	3374	c.3245G>A	c.(3244-3246)gGa>gAa	p.G1082E	SPOCD1_ENST00000257100.3_Missense_Mutation_p.G562E|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.G1069E|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1082					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		AGCAGAGATTCCCCTTGGAGC	0.672000													16	37					0	0	0.004990	0	0
RHPN1	114822	broad.mit.edu	37	8	144464776	144464776	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:144464776G>A	ENST00000289013.6	+	15	2069	c.1968G>A	c.(1966-1968)gtG>gtA	p.V656V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	681					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGCCCCAGTGAAGCCAGCTC	0.701000													7	20					0	0	0.008291	0	0
OR2D3	120775	broad.mit.edu	37	11	6942379	6942379	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:6942379C>T	ENST00000317834.3	+	1	175	c.147C>T	c.(145-147)atC>atT	p.I49I		NM_001004684.1	NP_001004684.1	Q8NGH3	OR2D3_HUMAN	olfactory receptor, family 2, subfamily D, member 3	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1)	27		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTTTCCTCATCATTTATCTGC	0.423000													6	54					0	0	0.003080	0	0
SCN9A	6335	broad.mit.edu	37	2	167056335	167056335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:167056335G>A	ENST00000303354.6	-	27	5157	c.4817C>T	c.(4816-4818)tCc>tTc	p.S1606F	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409435.1_Missense_Mutation_p.S1605F|SCN9A_ENST00000409672.1_Missense_Mutation_p.S1594F|SCN9A_ENST00000375387.4_Missense_Mutation_p.S1606F			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1605						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGGGTAGGGGACACAAAATA	0.418000													6	80					0	0	0.003080	0	0
PCSK1	5122	broad.mit.edu	37	5	95735866	95735866	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:95735866C>A	ENST00000311106.3	-	10	1458	c.1221G>T	c.(1219-1221)atG>atT	p.M407I	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Missense_Mutation_p.M360I	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	407	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCAGGTGCTGCATATCTCGCC	0.473000													14	62					2.31682e-05	2.63396e-05	0.003163	1	0
PCLO	27445	broad.mit.edu	37	7	82585034	82585034	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82585034C>T	ENST00000423517.2	-	5	5572	c.5235G>A	c.(5233-5235)ccG>ccA	p.P1745P	PCLO_ENST00000333891.8_Silent_p.P1745P	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1676					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTTGTGACTCGGGCTACTGT	0.488000													10	141					0	0	0.008291	0	0
GHR	2690	broad.mit.edu	37	5	42718878	42718878	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:42718878C>T	ENST00000230882.4	+	10	1459	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L	GHR_ENST00000357703.3_Silent_p.L401L|GHR_ENST00000513625.1_3'UTR|GHR_ENST00000537449.1_Silent_p.L236L	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	423					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGCAGATCTCTTATGCCTTG	0.453000													13	31					0	0	0.001368	0	0
REPS2	9185	broad.mit.edu	37	X	17151948	17151948	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:17151948C>T	ENST00000357277.3	+	15	1751	c.1578_splice	c.e15-1	p.S527_splice	REPS2_ENST00000469714.1_3'UTR|REPS2_ENST00000303843.7_Splice_Site_p.S526_splice|REPS2_ENST00000380064.4_Splice_Site_p.S326_splice	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	527	Interaction with RALBP1.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TTGCTACAGTCTGAACAAGTG	0.478000													20	91					0	0	0.004656	0	0
FLG	2312	broad.mit.edu	37	1	152285758	152285758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152285758G>A	ENST00000368799.1	-	3	1639	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	535	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATTTACCGATTGCTCGTG	0.587000									Ichthyosis				75	242					0	0	0.003610	0	0
MAP2K1	5604	broad.mit.edu	37	15	66729162	66729162	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:66729162C>T	ENST00000307102.5	+	3	901	c.370C>T	c.(370-372)Ccg>Tcg	p.P124S		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	124	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P124S(8)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						GTGCAACTCTCCGTACATCGT	0.507000													15	37					0	0	0.004007	0	0
PDE4C	5143	broad.mit.edu	37	19	18321849	18321849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:18321849C>T	ENST00000355502.3	-	19	2900	c.2029G>A	c.(2029-2031)Gaa>Aaa	p.E677K	PDE4C_ENST00000594617.2_Missense_Mutation_p.E677K|PDE4C_ENST00000262805.11_Missense_Mutation_p.E645K|AC068499.10_ENST00000594805.2_RNA|PDE4C_ENST00000594465.2_Missense_Mutation_p.E677K|PDE4C_ENST00000447275.2_Missense_Mutation_p.E571K|PDE4C_ENST00000539010.1_Missense_Mutation_p.E446K			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	677					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GCTGTctcttccccctcctct	0.587000													10	41					0	0	0.006214	0	0
IGHV2-70	28454	broad.mit.edu	37	14	107178856	107178856	+	RNA	SNP	G	G	A	rs145906311	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:107178856G>A	ENST00000390634.2	-	0	396																											TGTCCACAGGGTCCATGTTGG	0.512000													10	160					0	0	0.001368	0	0
HK1	3098	broad.mit.edu	37	10	71142522	71142522	+	Silent	SNP	C	C	T	rs61751207		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:71142522C>T	ENST00000448642.2	+	15	2039	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F	HK1_ENST00000360289.2_Silent_p.F503F|HK1_ENST00000298649.3_Silent_p.F514F|HK1_ENST00000359426.6_Silent_p.F515F|HK1_ENST00000404387.2_Silent_p.F519F|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	515	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGCCCTCCTTCGTCCGGAGAA	0.627000													4	38					0	0	0.000248	0	0
C7	730	broad.mit.edu	37	5	40945392	40945392	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:40945392G>A	ENST00000313164.9	+	7	1019	c.660G>A	c.(658-660)cgG>cgA	p.R220R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	220	MACPF.		R -> Q (in C7D).		complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CATCTAGTCGGAAGCGCTCCT	0.313000													9	15					0	0	0.006214	0	0
FAM92A1	137392	broad.mit.edu	37	8	94722059	94722059	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:94722059G>A	ENST00000518322.1	+	6	640	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	FAM92A1_ENST00000423990.2_Missense_Mutation_p.E167K|FAM92A1_ENST00000517718.1_Missense_Mutation_p.E12K|FAM92A1_ENST00000519679.1_Missense_Mutation_p.E12K	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	167										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCATCTGGAGGAAACTATTAA	0.338000													4	19					0	0	0.001168	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A	rs77484671		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3455								p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000													5	31					0	0	0.001168	0	0
NWD1	284434	broad.mit.edu	37	19	16860357	16860357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:16860357C>T	ENST00000524140.2	+	6	1322	c.904C>T	c.(904-906)Ctt>Ttt	p.L302F	NWD1_ENST00000379808.3_Missense_Mutation_p.L302F|NWD1_ENST00000339803.6_Missense_Mutation_p.L167F|NWD1_ENST00000552788.1_Missense_Mutation_p.L302F|NWD1_ENST00000549814.1_Missense_Mutation_p.L302F|NWD1_ENST00000523826.1_Missense_Mutation_p.L96F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	302							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCACCACCTTTGGCAGAG	0.622000													6	24					0	0	0.001984	0	0
ASH1L	55870	broad.mit.edu	37	1	155450784	155450784	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:155450784C>A	ENST00000368346.3	-	3	2516	c.1877G>T	c.(1876-1878)tGt>tTt	p.C626F	ASH1L_ENST00000392403.3_Missense_Mutation_p.C626F			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	626					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AATCCCTTTACATTCAATACT	0.348000													18	82					0.000229342	0.000259921	0.001882	1	0
ST6GAL2	84620	broad.mit.edu	37	2	107449069	107449069	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:107449069G>A	ENST00000409382.3	-	4	1705	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V	ST6GAL2_ENST00000361686.4_Silent_p.V365V|ST6GAL2_ENST00000409087.3_Silent_p.V365V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	365					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CCACCAAAATGACGTCTTTAT	0.468000													6	68					0	0	0.003080	0	0
CPAMD8	27151	broad.mit.edu	37	19	17091485	17091485	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:17091485T>G	ENST00000443236.1	-	14	1579	c.1548A>C	c.(1546-1548)gaA>gaC	p.E516D	CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	469						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAAAATAGGCTTCTTCCCCAA	0.577000													5	48					0	0	0.001984	0	0
FRYL	285527	broad.mit.edu	37	4	48566105	48566105	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:48566105G>A	ENST00000537810.1	-	31	4060	c.3456C>T	c.(3454-3456)ggC>ggT	p.G1152G	FRYL_ENST00000358350.4_Silent_p.G1152G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507711.1_Silent_p.G1152G|FRYL_ENST00000503238.1_Silent_p.G1152G			O94915	FRYL_HUMAN	FRY-like	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGCTTCACAGCCCAGCTGGT	0.478000													5	42					0	0	0.001168	0	0
COL5A1	1289	broad.mit.edu	37	9	137677874	137677874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:137677874C>T	ENST00000371817.3	+	31	3040	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	876	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCAGGGTATCCAGGAAGACA	0.592000													3	13					0	0	0.000602	0	0
PCSK6	5046	broad.mit.edu	37	15	101983763	101983763	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:101983763G>A	ENST00000348070.1	-	3	396	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	PCSK6_ENST00000344273.2_Nonsense_Mutation_p.Q133*|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Nonsense_Mutation_p.Q133*|PCSK6_ENST00000358417.3_Nonsense_Mutation_p.Q133*	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	134					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCTGTACCTGGGGGTCCATT	0.458000													15	86					0	0	0.004007	0	0
CCDC28A	25901	broad.mit.edu	37	6	139094890	139094890	+	Missense_Mutation	SNP	C	C	T	rs143573686		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:139094890C>T	ENST00000332797.6	+	1	234	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	27										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		GAGGCTGTACCTCTTACGTCA	0.632000													50	106					0	0	0.003610	0	0
MBD3L1	85509	broad.mit.edu	37	19	8953934	8953934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:8953934C>T	ENST00000595891.1	+	3	811	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	MBD3L1_ENST00000305625.2_Missense_Mutation_p.R194C			Q8WWY6	MB3L1_HUMAN	methyl-CpG binding domain protein 3-like 1	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	12						TCCTGAAAAACGCTAAGAAAA	0.423000													4	17					0	0	0.001168	0	0
CBLN1	869	broad.mit.edu	37	16	49315257	49315257	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:49315257G>A	ENST00000219197.6	-	1	485	c.120C>T	c.(118-120)tcC>tcT	p.S40S	CBLN1_ENST00000536749.1_Silent_p.S40S	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	40					nervous system development|synaptic transmission	cell junction|extracellular region|synapse				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				ACGTGGGGTTGGAGTCGCACA	0.692000													7	32					0	0	0.001984	0	0
RBM6	10180	broad.mit.edu	37	3	50005945	50005945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:50005945C>T	ENST00000443081.1	+	3	1610	c.691C>T	c.(691-693)Cca>Tca	p.P231S	RBM6_ENST00000266022.4_Missense_Mutation_p.P363S|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000539992.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	363					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		CAGCCAAAGTCCAGTTCAAGA	0.458000													4	42					0	0	0.000248	0	0
AKAP14	158798	broad.mit.edu	37	X	119048716	119048716	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:119048716G>A	ENST00000371431.3	+	5	590	c.316G>A	c.(316-318)Gac>Aac	p.D106N	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	106						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408000													15	34					0	0	0.004007	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24908778	24908778	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:24908778G>A	ENST00000396432.2	-	9	2532	c.2046C>T	c.(2044-2046)tcC>tcT	p.S682S	ARHGAP21_ENST00000320481.6_Silent_p.S469S	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	681					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATAAAGAGGGGGATTTCCCAG	0.483000													13	26					0	0	0.001855	0	0
LRRK2	120892	broad.mit.edu	37	12	40702473	40702473	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:40702473C>T	ENST00000298910.7	+	29	4222	c.4164C>T	c.(4162-4164)ctC>ctT	p.L1388L		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1388	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.L1388L(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAGAGATCTCGTCCTAAATG	0.358000													4	22					0	0	0.000248	0	0
NRP1	8829	broad.mit.edu	37	10	33515168	33515168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:33515168G>A	ENST00000265371.4	-	8	1556	c.1031C>T	c.(1030-1032)gCc>gTc	p.A344V	NRP1_ENST00000374867.2_Missense_Mutation_p.A344V|NRP1_ENST00000374816.3_Missense_Mutation_p.A344V|NRP1_ENST00000374821.5_Missense_Mutation_p.A344V|NRP1_ENST00000374822.4_Missense_Mutation_p.A344V|NRP1_ENST00000374823.5_Missense_Mutation_p.A344V|NRP1_ENST00000395995.1_Missense_Mutation_p.A344V			O14786	NRP1_HUMAN	neuropilin 1	344	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTTTGAAATGGCGCCCTGTGT	0.478000													13	19					0	0	0.001368	0	0
SH3BP5L	80851	broad.mit.edu	37	1	249119076	249119076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:249119076G>A	ENST00000366472.5	-	2	1288	c.59C>T	c.(58-60)cCt>cTt	p.P20L	SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	20										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TACAACTTCAGGCCGCAGCTC	0.612000													25	66					0	0	0.005443	0	0
FANK1	92565	broad.mit.edu	37	10	127697113	127697113	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:127697113C>T	ENST00000368695.1	+	8	947	c.825C>T	c.(823-825)ccC>ccT	p.P275P	FANK1_ENST00000477963.1_3'UTR|FANK1_ENST00000368693.1_Silent_p.P281P	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	281						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAAGACGCCCCTTATGGTAG	0.468000													9	50					0	0	0.006214	0	0
TDRD5	163589	broad.mit.edu	37	1	179638490	179638490	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:179638490C>T	ENST00000444136.1	+	17	3061	c.2811C>T	c.(2809-2811)ccC>ccT	p.P937P	TDRD5_ENST00000367614.1_Silent_p.P883P|TDRD5_ENST00000294848.8_Silent_p.P883P	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	883					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAGCAGCACCCTGTTCAACAA	0.493000													7	92					0	0	0.003080	0	0
IMPA2	3613	broad.mit.edu	37	18	12030427	12030427	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:12030427G>A	ENST00000269159.3	+	8	1079	c.837G>A	c.(835-837)acG>acA	p.T279T	IMPA2_ENST00000588927.1_Silent_p.T90T|IMPA2_ENST00000589238.1_Silent_p.T90T	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2	279					inositol phosphate dephosphorylation|signal transduction	cytoplasm	inositol-1(or 4)-monophosphatase activity|metal ion binding|protein homodimerization activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	CCTTACAGACGATTAACTATG	0.627000													7	39					0	0	0.003080	0	0
DCDC1	341019	broad.mit.edu	37	11	30953328	30953328	+	Translation_Start_Site	SNP	G	G	A	rs150997514	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:30953328G>A	ENST00000406071.2	-	0	523				DCDC1_ENST00000597505.1_Missense_Mutation_p.R963W|DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.R42W			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction			p.R42W(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					TGCGTTTTCCGTCCAGGTGAG	0.378000													7	18					0	0	0.003080	0	0
DYSF	8291	broad.mit.edu	37	2	71894600	71894600	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:71894600G>A	ENST00000258104.3	+	47	5572	c.5295G>A	c.(5293-5295)gtG>gtA	p.V1765V	DYSF_ENST00000429174.2_Silent_p.V1786V|DYSF_ENST00000413539.2_Silent_p.V1796V|DYSF_ENST00000410020.3_Silent_p.V1804V|DYSF_ENST00000409366.1_Silent_p.V1787V|DYSF_ENST00000410041.1_Silent_p.V1783V|DYSF_ENST00000409762.1_Silent_p.V1782V|DYSF_ENST00000409651.1_Silent_p.V1797V|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000394120.2_Silent_p.V1766V|DYSF_ENST00000409744.1_Silent_p.V1773V|DYSF_ENST00000409582.3_Silent_p.V1803V	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1765						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CGGAGCACGTGGAGTCACGGC	0.652000													28	38					0	0	0.006320	0	0
HDAC9	9734	broad.mit.edu	37	7	18801793	18801793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:18801793G>A	ENST00000406451.3	+	15	2198	c.2048G>A	c.(2047-2049)cGa>cAa	p.R683Q	HDAC9_ENST00000401921.1_Missense_Mutation_p.R642Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R683Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R686Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	683	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATTCAAGGTCGAAAAGCCAGC	0.448000													9	21					0	0	0.008291	0	0
STK31	56164	broad.mit.edu	37	7	23823225	23823225	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:23823225G>A	ENST00000354639.3	+	17	2486	c.2022G>A	c.(2020-2022)caG>caA	p.Q674Q	STK31_ENST00000433467.2_Silent_p.Q697Q|STK31_ENST00000355870.3_Silent_p.Q697Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000428484.1_Silent_p.Q674Q	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	697							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GTTTGGCACAGAAATGGTTCC	0.348000													16	89					0	0	0.008871	0	0
SZT2	23334	broad.mit.edu	37	1	43905375	43905375	+	Missense_Mutation	SNP	G	G	A	rs146140125	byFrequency	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:43905375G>A	ENST00000562955.1	+	49	6806	c.6806G>A	c.(6805-6807)cGa>cAa	p.R2269Q	SZT2_ENST00000372442.1_Missense_Mutation_p.R1427Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2326						peroxisome		p.R1427L(2)		NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GACCCACTGCGAGAGGAGGAA	0.607000													11	83					0	0	0.000978	0	0
METTL15	196074	broad.mit.edu	37	11	28311863	28311863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:28311863C>T	ENST00000342303.5	+	5	973	c.518C>T	c.(517-519)tCc>tTc	p.S173F	METTL15_ENST00000407364.3_Missense_Mutation_p.S173F|METTL15_ENST00000303459.6_Missense_Mutation_p.S173F|METTL15_ENST00000406787.3_Missense_Mutation_p.S173F	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	173							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CTTGGGTGTTCCTCCATGCAA	0.473000													22	63					0	0	0.003330	0	0
IMPG1	3617	broad.mit.edu	37	6	76720925	76720925	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:76720925T>G	ENST00000369950.3	-	8	1013	c.824A>C	c.(823-825)aAg>aCg	p.K275T	IMPG1_ENST00000369963.3_3'UTR	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	275	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGGAAGTTTCTTAAATATCTT	0.323000													4	60					0	0	0.000248	0	0
LTBP1	4052	broad.mit.edu	37	2	33500900	33500900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:33500900G>A	ENST00000404816.2	+	18	3255	c.2902G>A	c.(2902-2904)Ggg>Agg	p.G968R	LTBP1_ENST00000402934.1_Missense_Mutation_p.G589R|LTBP1_ENST00000407925.1_Missense_Mutation_p.G642R|LTBP1_ENST00000354476.3_Missense_Mutation_p.G969R|LTBP1_ENST00000404525.1_Missense_Mutation_p.G589R|LTBP1_ENST00000390003.4_Missense_Mutation_p.G643R|LTBP1_ENST00000418533.2_Missense_Mutation_p.G642R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	968	EGF-like 6; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GGACGTCTGTGGGGAGGGGCA	0.537000													12	98					0	0	0.000978	0	0
CRLF3	51379	broad.mit.edu	37	17	29120537	29120537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:29120537C>T	ENST00000324238.6	-	5	881	c.757G>A	c.(757-759)Gga>Aga	p.G253R	CRLF3_ENST00000544695.1_Missense_Mutation_p.G137R|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	253	Fibronectin type-III.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				CGGCCATCTCCTCGGGCGCAG	0.473000													13	37					0	0	0.002450	0	0
CMTR1	23070	broad.mit.edu	37	6	37443964	37443964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:37443964C>T	ENST00000373451.4	+	20	2263	c.2099C>T	c.(2098-2100)cCc>cTc	p.P700L		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		700					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GACATGAATCCCATCAGGTGA	0.547000													24	72					0	0	0.005443	0	0
TMEM67	91147	broad.mit.edu	37	8	94809390	94809390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:94809390C>T	ENST00000453321.3	+	19	1947	c.1889C>T	c.(1888-1890)tCc>tTc	p.S630F	TMEM67_ENST00000409623.3_Missense_Mutation_p.S549F	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	630					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGCTCATATCCCAGATTACA	0.323000													8	31					0	0	0.004482	0	0
FBXO8	26269	broad.mit.edu	37	4	175184102	175184102	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:175184102G>A	ENST00000393674.2	-	2	1004	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	FBXO8_ENST00000503293.1_Nonsense_Mutation_p.Q48*	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	48					regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATGCCTCCTTGGACTTGTTTA	0.438000													15	74					0	0	0.004007	0	0
NCOA5	57727	broad.mit.edu	37	20	44699170	44699170	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:44699170G>A	ENST00000290231.6	-	3	208	c.44C>T	c.(43-45)cCa>cTa	p.P15L		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	15	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAAGCCATATGGATCCCTGTG	0.502000													10	70					0	0	0.001368	0	0
OR6C2	341416	broad.mit.edu	37	12	55846693	55846693	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:55846693G>A	ENST00000322678.1	+	1	696	c.696G>A	c.(694-696)agG>agA	p.R232R	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTCAGCAAAGGAAAAAGGCCT	0.413000													10	75					0	0	0.000978	0	0
GPC6	10082	broad.mit.edu	37	13	93879740	93879740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:93879740C>T	ENST00000377047.4	+	1	646	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	11						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TGTGATTCTTCCCCTCTTGGG	0.637000											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	45					0	0	0.001368	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10525283	10525283	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:10525283G>A	ENST00000396560.2	+	3	1033	c.806G>A	c.(805-807)tGg>tAg	p.W269*	ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.W269*|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.W269*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.W269*	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						GACTCAACATGGCAGTCATCA	0.328000													5	30					0	0	0.000602	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546140	178546140	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:178546140G>A	ENST00000432997.1	+	4	754	c.402G>A	c.(400-402)gaG>gaA	p.E134E	KCNMB2_ENST00000358316.3_Silent_p.E134E|KCNMB2_ENST00000452583.1_Silent_p.E134E|RP11-385J1.2_ENST00000437488.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.E134E|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	134					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACACAGAAGAGACAATAAAAA	0.502000													5	16					0	0	0.001168	0	0
ITGAX	3687	broad.mit.edu	37	16	31388540	31388540	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:31388540C>T	ENST00000268296.4	+	23	2864	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.Q915*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	915					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCACCTTCCAGCTGGAGCT	0.547000													6	36					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238253035	238253035	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:238253035G>A	ENST00000295550.4	-	36	8078	c.7626C>T	c.(7624-7626)ttC>ttT	p.F2542F	COL6A3_ENST00000409809.1_Silent_p.F2336F|COL6A3_ENST00000353578.4_Silent_p.F2336F|COL6A3_ENST00000472056.1_Silent_p.F1935F|COL6A3_ENST00000347401.3_Silent_p.F2341F|COL6A3_ENST00000346358.4_Silent_p.F2342F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2542	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCTTGTAAGGAACAAGGGGG	0.552000													20	120					0	0	0.007413	0	0
NLRP8	126205	broad.mit.edu	37	19	56459268	56459268	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:56459268G>A	ENST00000291971.3	+	0	71				NLRP8_ENST00000590542.1_Intron	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8							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)		CTTGACTAAAGATGAGTGACG	0.473000													22	115					0	0	0.003954	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23825971	23825971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:23825971G>A	ENST00000264867.2	-	7	928	c.809C>T	c.(808-810)cCc>cTc	p.P270L	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	270					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGAACCCTTGGGGTCACTGGA	0.408000													12	96					0	0	0.000978	0	0
NCEH1	57552	broad.mit.edu	37	3	172353837	172353837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:172353837G>A	ENST00000475381.1	-	4	711	c.478C>T	c.(478-480)Cat>Tat	p.H160Y	NCEH1_ENST00000538775.1_Missense_Mutation_p.H200Y|NCEH1_ENST00000273512.3_Missense_Mutation_p.H192Y|NCEH1_ENST00000543711.1_Missense_Mutation_p.H27Y			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	160					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						ACAACATCATGAATTTGCTCA	0.393000													17	66					0	0	0.007413	0	0
TENM1	10178	broad.mit.edu	37	X	123654524	123654524	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:123654524C>T	ENST00000422452.2	-	18	3207	c.3144G>A	c.(3142-3144)acG>acA	p.T1048T	TENM1_ENST00000371130.3_Silent_p.T1048T	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		CTACAGGAATCGTTGAATGTG	0.493000													13	34					0	0	0.001855	0	0
TRANK1	9881	broad.mit.edu	37	3	36873885	36873885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:36873885C>T	ENST00000301807.6	-	21	7304	c.5407G>A	c.(5407-5409)Gaa>Aaa	p.E1803K	TRANK1_ENST00000429976.2_Missense_Mutation_p.E2353K|TRANK1_ENST00000428977.2_Missense_Mutation_p.E1803K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2353					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TCCATATTTTCATCATCCCTG	0.478000													25	65					0	0	0.003954	0	0
TPPP	11076	broad.mit.edu	37	5	677984	677984	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:677984G>A	ENST00000360578.5	-	2	313	c.192C>T	c.(190-192)gcC>gcT	p.A64A		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	64	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGGTGGCCCTGGCGTCCCCGT	0.662000													5	22					0	0	0.000602	0	0
GRIA2	2891	broad.mit.edu	37	4	158224909	158224909	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:158224909G>A	ENST00000296526.7	+	3	760	c.435G>A	c.(433-435)tgG>tgA	p.W145*	GRIA2_ENST00000507898.1_Nonsense_Mutation_p.W98*|GRIA2_ENST00000393815.2_Nonsense_Mutation_p.W98*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.W98*|GRIA2_ENST00000264426.9_Nonsense_Mutation_p.W145*	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	145					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACTATCAATGGGACAAGTTTG	0.443000													12	64					0	0	0.000978	0	0
HIVEP3	59269	broad.mit.edu	37	1	42046639	42046639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:42046639G>A	ENST00000372584.1	-	3	4844	c.3830C>T	c.(3829-3831)cCc>cTc	p.P1277L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.P1277L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.P1277L|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P1277L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1277					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCTGTGCTGGGGGAGAGGCC	0.617000													6	34					0	0	0.001984	0	0
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:7635262C>T	ENST00000359156.4	-	14	3426	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	CD163_ENST00000541972.1_Missense_Mutation_p.R1063Q|CD163_ENST00000396620.3_Missense_Mutation_p.R1108Q|CD163_ENST00000432237.2_Missense_Mutation_p.R1075Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1075					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R1075Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTCTGTCTTCGCTTTTTAGT	0.433000													15	110					0	0	0.006122	0	0
TRIM51	84767	broad.mit.edu	37	11	55653274	55653274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:55653274C>T	ENST00000449290.2	+	2	462	c.370C>T	c.(370-372)Cac>Tac	p.H124Y		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	124						intracellular	zinc ion binding										GCACCGGAATCACATACACTG	0.478000													7	19					0	0	0.004482	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12919635	12919635	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:12919635C>T	ENST00000240189.2	+	3	462	c.375C>T	c.(373-375)ttC>ttT	p.F125F		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	125										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCTGCTTCCCAGAGGCCA	0.537000													60	243					0	0	0.003610	0	0
PLXNA4	91584	broad.mit.edu	37	7	131825483	131825483	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:131825483G>A	ENST00000359827.3	-	30	6275	c.5313C>T	c.(5311-5313)ctC>ctT	p.L1771L	PLXNA4_ENST00000321063.4_Silent_p.L1771L			Q9HCM2	PLXA4_HUMAN	plexin A4	1771						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCACCACAGAGAGGCAGGCGT	0.557000													10	93					0	0	0.006214	0	0
SLC15A1	6564	broad.mit.edu	37	13	99364143	99364143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:99364143G>A	ENST00000376503.5	-	11	920	c.865C>T	c.(865-867)Cca>Tca	p.P289S		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	289					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTGGGAGTGGAATATACAGG	0.517000													10	66					0	0	0.001368	0	0
SMARCA1	6594	broad.mit.edu	37	X	128582286	128582286	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:128582286T>C	ENST00000371122.4	-	24	3294	c.3165A>G	c.(3163-3165)taA>taG	p.*1055*	SMARCA1_ENST00000371121.3_Silent_p.*1043*|SMARCA1_ENST00000371123.1_Silent_p.*1043*	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	0					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TACCTAAAAGTTAGGAAAATG	0.299000													5	24					0	0	0.001168	0	0
CROT	54677	broad.mit.edu	37	7	86978460	86978460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:86978460C>T	ENST00000331536.3	+	3	261	c.76C>T	c.(76-78)Cct>Tct	p.P26S	CROT_ENST00000412227.2_Missense_Mutation_p.P26S|CROT_ENST00000419147.2_Missense_Mutation_p.P26S|CROT_ENST00000442291.1_Missense_Mutation_p.P26S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	26					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ACTGCCTGTTCCTTCACTTGA	0.294000													7	68					0	0	0.003080	0	0
TECPR2	9895	broad.mit.edu	37	14	102901109	102901109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:102901109C>T	ENST00000359520.7	+	9	2181	c.1955C>T	c.(1954-1956)tCc>tTc	p.S652F	TECPR2_ENST00000558678.1_Missense_Mutation_p.S652F	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	652							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ACTGTGCCTTCCAGCCTCAGC	0.602000													5	21					0	0	0.001168	0	0
TCHH	7062	broad.mit.edu	37	1	152080273	152080273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152080273C>T	ENST00000368804.1	-	2	5419	c.5420G>A	c.(5419-5421)aGg>aAg	p.R1807K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1807	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding	p.R1807M(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTTCTTCCCTCTCCTGGCG	0.602000													10	59					0	0	0.000978	0	0
ZPLD1	131368	broad.mit.edu	37	3	102187820	102187820	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:102187820C>T	ENST00000306176.1	+	8	922	c.822C>T	c.(820-822)gaC>gaT	p.D274D	ZPLD1_ENST00000491959.1_Silent_p.D258D|ZPLD1_ENST00000466937.1_Silent_p.D258D	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	258	ZP.					integral to membrane		p.D274E(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GTGACAAGGACCCTCAGACCA	0.438000													8	23					0	0	0.004482	0	0
UBN2	254048	broad.mit.edu	37	7	138968105	138968105	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:138968105C>T	ENST00000288561.8	+	15	2454	c.2205C>T	c.(2203-2205)ccC>ccT	p.P735P	UBN2_ENST00000473989.2_Silent_p.P818P	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	818										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAGCTACTCCCAAAAAACTAG	0.448000													16	41					0	0	0.003163	0	0
ITGA1	3672	broad.mit.edu	37	5	52183650	52183650	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:52183650G>A	ENST00000282588.6	+	8	1235	c.777G>A	c.(775-777)aaG>aaA	p.K259K		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	259	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				ACTTTAGAAAGGAGGCATTCA	0.408000													7	40					0	0	0.001984	0	0
PCLO	27445	broad.mit.edu	37	7	82582033	82582033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:82582033C>T	ENST00000423517.2	-	5	8573	c.8236G>A	c.(8236-8238)Gat>Aat	p.D2746N	PCLO_ENST00000333891.8_Missense_Mutation_p.D2746N	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2677					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAGAAAGATCAATACATTTA	0.348000													8	23					0	0	0.004482	0	0
UNC5B	219699	broad.mit.edu	37	10	73048347	73048347	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:73048347G>A	ENST00000335350.6	+	7	1340	c.924G>A	c.(922-924)tgG>tgA	p.W308*	UNC5B_ENST00000373192.4_Nonsense_Mutation_p.W308*	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	308	TSP type-1 2.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GGACGGAGTGGAGCAAGTGGT	0.607000													7	68					0	0	0.001984	0	0
CCT8L2	150160	broad.mit.edu	37	22	17072290	17072290	+	Missense_Mutation	SNP	C	C	T	rs141686687		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr22:17072290C>T	ENST00000359963.3	-	1	1410	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	384					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACTCCGCAGCCCCTGGGTGGT	0.567000													14	61					0	0	0.001855	0	0
PEG3	5178	broad.mit.edu	37	19	57333105	57333105	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:57333105G>A	ENST00000326441.9	-	7	946	c.583C>T	c.(583-585)Ctt>Ttt	p.L195F	ZIM2_ENST00000599935.1_Missense_Mutation_p.L70F|PEG3_ENST00000598410.1_Missense_Mutation_p.L70F|ZIM2_ENST00000593711.1_Missense_Mutation_p.L70F|PEG3_ENST00000423103.2_Missense_Mutation_p.L195F|PEG3_ENST00000593695.1_Missense_Mutation_p.L69F|ZIM2_ENST00000221722.5_Missense_Mutation_p.L70F|ZIM2_ENST00000601070.1_Missense_Mutation_p.L70F|ZIM2_ENST00000391708.3_Missense_Mutation_p.L70F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	195					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGAAGGGAAAGATCCCGCGGA	0.537000													17	93					0	0	0.004990	0	0
COL5A1	1289	broad.mit.edu	37	9	137593137	137593137	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:137593137C>T	ENST00000371817.3	+	4	1026	c.612C>T	c.(610-612)atC>atT	p.I204I	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	204	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TCAATGGCATCATCGTGTTTG	0.557000													3	15					0	0	0.000248	0	0
FAM47A	158724	broad.mit.edu	37	X	34148949	34148949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:34148949G>A	ENST00000346193.3	-	1	1498	c.1447C>T	c.(1447-1449)Ccc>Tcc	p.P483S		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	483										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CGTGTCTTGGGATGTTCCGGG	0.617000													5	40					0	0	0.000602	0	0
ABCC9	10060	broad.mit.edu	37	12	22063888	22063888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:22063888C>T	ENST00000261200.4	-	7	1035	c.1036G>A	c.(1036-1038)Gaa>Aaa	p.E346K	ABCC9_ENST00000261201.4_Missense_Mutation_p.E346K|ABCC9_ENST00000345162.2_Missense_Mutation_p.E346K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	346	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCAAGAAATTCCTTTGATGAG	0.368000													8	39					0	0	0.006214	0	0
UBA2	10054	broad.mit.edu	37	19	34929578	34929578	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:34929578C>T	ENST00000439527.2	+	6	698	c.200C>T	c.(199-201)cCt>cTt	p.P67L	UBA2_ENST00000246548.4_Missense_Mutation_p.P163L			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	163					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAGTGTCATCCTAAGCCGACC	0.403000													21	60					0	0	0.001523	0	0
NR1I3	9970	broad.mit.edu	37	1	161201215	161201215	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:161201215C>T	ENST00000502985.1	-	4	381	c.288G>A	c.(286-288)tgG>tgA	p.W96*	NR1I3_ENST00000511944.1_Nonsense_Mutation_p.W96*|NR1I3_ENST00000511676.1_Missense_Mutation_p.E171K|NR1I3_ENST00000515452.1_Missense_Mutation_p.E200K|NR1I3_ENST00000428574.2_Missense_Mutation_p.E200K|NR1I3_ENST00000367982.4_Missense_Mutation_p.E200K|NR1I3_ENST00000512372.1_Missense_Mutation_p.E171K|NR1I3_ENST00000367981.3_Missense_Mutation_p.E171K|NR1I3_ENST00000515621.1_Missense_Mutation_p.E125K|NR1I3_ENST00000367979.2_Missense_Mutation_p.E200K|NR1I3_ENST00000367985.3_Missense_Mutation_p.E200K|NR1I3_ENST00000367983.4_Missense_Mutation_p.E200K|NR1I3_ENST00000367984.4_Missense_Mutation_p.E200K|NR1I3_ENST00000508740.1_Missense_Mutation_p.E171K|NR1I3_ENST00000437437.2_Missense_Mutation_p.E171K|NR1I3_ENST00000505005.1_Missense_Mutation_p.E200K|NR1I3_ENST00000511748.1_Nonsense_Mutation_p.W67*|NR1I3_ENST00000504010.1_Missense_Mutation_p.E171K|NR1I3_ENST00000412844.2_Missense_Mutation_p.E171K|NR1I3_ENST00000442691.2_Missense_Mutation_p.E200K|NR1I3_ENST00000367980.2_Missense_Mutation_p.E200K|NR1I3_ENST00000508387.1_Nonsense_Mutation_p.W67*|NR1I3_ENST00000506209.1_Missense_Mutation_p.E171K			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	0					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TGACAGATTTCCACAGCTGCT	0.463000													21	59					0	0	0.003954	0	0
MASP1	5648	broad.mit.edu	37	3	186938832	186938832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:186938832C>T	ENST00000337774.5	-	15	2289	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	634	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTTCCTTCTCCCCAGCACAG	0.567000													7	17					0	0	0.003080	0	0
FHIT	2272	broad.mit.edu	37	3	59737982	59737982	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:59737982T>G	ENST00000468189.1	-	9	784	c.414A>C	c.(412-414)gaA>gaC	p.E138D	FHIT_ENST00000492590.1_Missense_Mutation_p.E138D|FHIT_ENST00000476844.1_Missense_Mutation_p.E138D|FHIT_ENST00000341848.4_Missense_Mutation_p.E138D|FHIT_ENST00000466788.1_5'UTR			P49789	FHIT_HUMAN	fragile histidine triad	138					nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GAGCTGCGGCTTCTGCTGCCA	0.512000			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				11	35					0	0	0.001368	0	0
NDST3	9348	broad.mit.edu	37	4	118975722	118975722	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:118975722C>T	ENST00000296499.5	+	2	1060	c.657C>T	c.(655-657)gaC>gaT	p.D219D	NDST3_ENST00000433996.2_Silent_p.D219D	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	219	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTGGAACTGACTGGACAGTTT	0.373000													5	101					0	0	0.001984	0	0
ZNF831	128611	broad.mit.edu	37	20	57769658	57769658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:57769658C>T	ENST00000371030.2	+	1	3584	c.3584C>T	c.(3583-3585)cCc>cTc	p.P1195L		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1195						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCCCTCTGCCCGCGGAGCAG	0.632000													5	27					0	0	0.000602	0	0
PKD1L1	168507	broad.mit.edu	37	7	47898329	47898329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47898329G>A	ENST00000289672.2	-	27	4354	c.4304C>T	c.(4303-4305)tCg>tTg	p.S1435L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1435	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTCCTCCTTCGAGTTTTCTTG	0.433000													24	60					0	0	0.004656	0	0
P2RY2	5029	broad.mit.edu	37	11	72946232	72946232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:72946232G>A	ENST00000311131.2	+	3	1495	c.1028G>A	c.(1027-1029)aGa>aAa	p.R343K	P2RY2_ENST00000393597.2_Missense_Mutation_p.R343K|P2RY2_ENST00000393596.2_Missense_Mutation_p.R343K	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	343					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	AGATCCGACAGAACTGACATG	0.637000													13	56					0	0	0.001855	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059262	152059262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:152059262G>A	ENST00000368806.1	-	3	960	c.896C>T	c.(895-897)cCc>cTc	p.P299L		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	299							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGTGAACTGGGCTCATCTTC	0.433000													22	171					0	0	0.004656	0	0
LRTM2	654429	broad.mit.edu	37	12	1943561	1943561	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:1943561G>A	ENST00000543818.1	+	5	1629	c.787G>A	c.(787-789)Gat>Aat	p.D263N	CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_3'UTR|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.D263N|LRTM2_ENST00000299194.1_Missense_Mutation_p.D263N|CACNA2D4_ENST00000588077.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	263						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AGCTGGGCTGGATATTCCTGG	0.637000													4	22					0	0	0.000248	0	0
MRE11A	4361	broad.mit.edu	37	11	94169038	94169038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:94169038C>T	ENST00000323929.3	-	18	2176	c.1954G>A	c.(1954-1956)Gaa>Aaa	p.E652K	MRE11A_ENST00000393241.4_Missense_Mutation_p.E651K|MRE11A_ENST00000323977.3_Missense_Mutation_p.E624K|MRE11A_ENST00000407439.3_Missense_Mutation_p.E655K	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	652					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATGTCTTCTTCCACATCTGAT	0.328000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				11	54					0	0	0.001368	0	0
ABCB11	8647	broad.mit.edu	37	2	169870007	169870007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:169870007G>A	ENST00000263817.6	-	5	288	c.164C>T	c.(163-165)tCa>tTa	p.S55L		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	55					bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTCAGTTGATGAAGAAAACCG	0.418000													10	61					0	0	0.006214	0	0
C1S	716	broad.mit.edu	37	12	7177387	7177387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:7177387C>T	ENST00000406697.1	+	15	2127	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	C1S_ENST00000402681.3_Missense_Mutation_p.S333F|C1S_ENST00000360817.5_Missense_Mutation_p.S500F|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000328916.3_Missense_Mutation_p.S500F			P09871	C1S_HUMAN	complement component 1, s subcomponent	500	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CTGGCAAAATCCAAGATGCTC	0.512000													6	23					0	0	0.001984	0	0
SLC5A12	159963	broad.mit.edu	37	11	26714049	26714049	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:26714049G>A	ENST00000396005.3	-	9	1449	c.1140C>T	c.(1138-1140)atC>atT	p.I380I	SLC5A12_ENST00000280467.6_Silent_p.I380I	NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	380					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AGCCTTTACTGATCCAGGTGC	0.458000													6	32					0	0	0.001168	0	0
ADAM22	53616	broad.mit.edu	37	7	87774728	87774728	+	Splice_Site	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:87774728A>G	ENST00000398204.4	+	17	1715		c.e17-1		ADAM22_ENST00000265727.7_Splice_Site|ADAM22_ENST00000398209.3_Splice_Site|ADAM22_ENST00000398201.4_Splice_Site|ADAM22_ENST00000315984.7_Splice_Site	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22						cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TATATTCCTTAGGAATGTGTC	0.343000													7	53					0	0	0.001984	0	0
MRVI1	10335	broad.mit.edu	37	11	10615060	10615060	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:10615060G>A	ENST00000547195.1	-	16	2381	c.1881C>T	c.(1879-1881)tcC>tcT	p.S627S	MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000534266.2_Silent_p.S403S|MRVI1_ENST00000527509.2_Silent_p.S627S|MRVI1_ENST00000424001.1_Silent_p.S403S|MRVI1_ENST00000423302.2_Silent_p.S718S|MRVI1_ENST00000541483.1_Silent_p.S512S|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000545852.1_Silent_p.S403S|MRVI1_ENST00000436272.1_Silent_p.S691S|MRVI1_ENST00000531107.1_Silent_p.S710S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000558540.1_Silent_p.S403S|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000421747.1_Silent_p.S709S|MRVI1_ENST00000552103.1_Silent_p.S627S	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	691					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		AGGAGGGAATGGATGATGAGC	0.517000													16	34					0	0	0.007413	0	0
TFAP4	7023	broad.mit.edu	37	16	4312623	4312623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:4312623C>T	ENST00000204517.6	-	2	497	c.169G>A	c.(169-171)Gag>Aag	p.E57K		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	57					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CGTCTCCGCTCGTTGCTGTTG	0.617000													14	85					0	0	0.004007	0	0
ISL1	3670	broad.mit.edu	37	5	50687133	50687133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:50687133C>T	ENST00000230658.7	+	5	1376	c.791C>T	c.(790-792)cCc>cTc	p.P264L	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Intron	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	264	Gln-rich.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				ACAGGAACTCCCATGGTGGCT	0.522000													13	24					0	0	0.003163	0	0
PPP1R2P1	100507444	broad.mit.edu	37	6	32847126	32847126	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:32847126G>A	ENST00000420261.1	-	0	499																											TAGGTCTTTTGAAATTAATTG	0.373000													3	11					0	0	0.004672	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840694	36840694	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:36840694G>A	ENST00000557188.1	+	0	325																											TTCCCGGGACGATTCAGGGGC	0.478000													4	30					0	0	0.000248	0	0
EML5	161436	broad.mit.edu	37	14	89093244	89093244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:89093244C>T	ENST00000554922.1	-	35	4926	c.4678G>A	c.(4678-4680)Ggg>Agg	p.G1560R	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Missense_Mutation_p.G1552R|EML5_ENST00000352093.5_Missense_Mutation_p.G1514R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1552						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCAGTAGCCCTTTTTTGCTA	0.468000													5	47					0	0	0.000602	0	0
LRRC7	57554	broad.mit.edu	37	1	70460279	70460279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:70460279G>A	ENST00000310961.5	+	12	1286	c.868G>A	c.(868-870)Gac>Aac	p.D290N	LRRC7_ENST00000035383.5_Missense_Mutation_p.D285N|LRRC7_ENST00000415775.2_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	285						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAAGTAGATGACAATCAACT	0.333000													12	91					0	0	0.001855	0	0
BSN	8927	broad.mit.edu	37	3	49695059	49695059	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:49695059C>T	ENST00000296452.4	+	5	8184	c.8070C>T	c.(8068-8070)atC>atT	p.I2690I		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2690					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCATCCACATCACAGCTGCCA	0.632000													9	43					0	0	0.004482	0	0
C1QB	713	broad.mit.edu	37	1	22987512	22987512	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:22987512T>A	ENST00000509305.1	+	3	735	c.389T>A	c.(388-390)gTc>gAc	p.V130D	C1QB_ENST00000314933.6_Missense_Mutation_p.V132D			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	132	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCATCAACGTCCCCCTGCGC	0.607000													10	90					0	0	0.001368	0	0
RYR3	6263	broad.mit.edu	37	15	34130703	34130703	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:34130703G>A	ENST00000389232.4	+	89	12592	c.12522G>A	c.(12520-12522)aaG>aaA	p.K4174K	RYR3_ENST00000415757.3_Silent_p.K4169K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4174					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACGTGAAAAAGATGACTGCGA	0.502000													9	18					0	0	0.006214	0	0
MYF5	4617	broad.mit.edu	37	12	81111089	81111089	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:81111089G>A	ENST00000228644.3	+	1	399	c.247G>A	c.(247-249)Gat>Aat	p.D83N		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	83					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCATGGATCGGCGGAA	0.617000													4	18					0	0	0.000602	0	0
DHX30	22907	broad.mit.edu	37	3	47859547	47859547	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:47859547C>T	ENST00000445061.1	+	4	471	c.64C>T	c.(64-66)Ccc>Tcc	p.P22S	DHX30_ENST00000476446.1_3'UTR|DHX30_ENST00000446256.2_5'UTR|DHX30_ENST00000348968.4_5'UTR	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	22						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		gtgcaaacttcccccaccccg	0.612000													7	110					0	0	0.004482	0	0
FCRL1	115350	broad.mit.edu	37	1	157773774	157773774	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:157773774G>A	ENST00000358292.3	-	3	231	c.180C>T	c.(178-180)gcC>gcT	p.A60A	FCRL1_ENST00000368176.3_Silent_p.A60A|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.A60A	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	60	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity	p.A60A(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTGGGCCCAAGGCCCGGGTGT	0.577000													25	85					0	0	0.004656	0	0
CEP57L1	285753	broad.mit.edu	37	6	109484108	109484108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:109484108C>T	ENST00000407272.1	+	13	1895	c.1318C>T	c.(1318-1320)Cat>Tat	p.H440Y	CEP57L1_ENST00000336977.4_Missense_Mutation_p.H340Y|CEP57L1_ENST00000517392.1_Missense_Mutation_p.H440Y|CEP57L1_ENST00000521522.1_Missense_Mutation_p.H387Y|CEP57L1_ENST00000523787.1_Missense_Mutation_p.H443Y|CEP57L1_ENST00000520883.1_Missense_Mutation_p.H340Y|CEP57L1_ENST00000368968.2_3'UTR|CEP57L1_ENST00000359793.3_Missense_Mutation_p.H440Y|CEP57L1_ENST00000368970.2_Missense_Mutation_p.H457Y	NM_001083535.1	NP_001077004.1	Q8IYX8	CE57L_HUMAN	centrosomal protein 57kDa-like 1	440						microtubule|microtubule organizing center				endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)	11						CAGCAGCTTTCATCCAATACG	0.353000													4	21					0	0	0.000248	0	0
METTL9	51108	broad.mit.edu	37	16	21629267	21629267	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:21629267C>T	ENST00000358154.3	+	3	696	c.438C>T	c.(436-438)acC>acT	p.T146T	METTL9_ENST00000396014.4_Silent_p.T146T	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	146										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		ACTGGAAAACCCACAGACTTC	0.393000													14	74					0	0	0.001855	0	0
ADAM18	8749	broad.mit.edu	37	8	39537695	39537695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:39537695G>A	ENST00000265707.5	+	16	1816	c.1771G>A	c.(1771-1773)Gga>Aga	p.G591R	ADAM18_ENST00000541111.1_Missense_Mutation_p.G5R|ADAM18_ENST00000379866.1_Missense_Mutation_p.G567R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	591	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAGATCAGATGGAACAGACAA	0.353000													6	15					0	0	0.001168	0	0
MYCBP2	23077	broad.mit.edu	37	13	77619581	77619581	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:77619581C>A	ENST00000407578.2	-	83	14235	c.13969G>T	c.(13969-13971)Gtt>Ttt	p.V4657F	MYCBP2_ENST00000544440.2_Missense_Mutation_p.V4619F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.V4619F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GGTGGATGAACAACATGGAGT	0.423000													7	51					2.17888e-05	2.47973e-05	0.006214	1	0
ALMS1	7840	broad.mit.edu	37	2	73680578	73680578	+	Silent	SNP	C	C	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:73680578C>A	ENST00000264448.6	+	8	7032	c.6921C>A	c.(6919-6921)tcC>tcA	p.S2307S	ALMS1_ENST00000409009.1_Silent_p.S2265S|ALMS1_ENST00000377715.1_Silent_p.S2307S	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2307					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AACCCTCTTCCACGGGTGTAT	0.433000													21	36					2.37509e-13	2.71724e-13	0.001523	1	0
XYLT1	64131	broad.mit.edu	37	16	17221565	17221565	+	Silent	SNP	G	G	A	rs112238716		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:17221565G>A	ENST00000261381.6	-	10	2265	c.2181C>T	c.(2179-2181)atC>atT	p.I727I		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	727					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGGGCTTGCGATCTTGAAGA	0.493000													12	117					0	0	0.001368	0	0
RNF219	79596	broad.mit.edu	37	13	79191089	79191089	+	Silent	SNP	G	G	A	rs149298632		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:79191089G>A	ENST00000282003.6	-	6	865	c.807C>T	c.(805-807)tcC>tcT	p.S269S	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	269							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		TCTGGCAAATGGAATTCATAG	0.438000													9	56					0	0	0.004482	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716319	13716319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:13716319G>A	ENST00000279593.3	-	13	4062	c.3853C>T	c.(3853-3855)Ccg>Tcg	p.P1285S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1285					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GAATTAGTCGGGCTCTGAGGG	0.597000													11	68					0	0	0.000978	0	0
ERBB4	2066	broad.mit.edu	37	2	212286791	212286791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:212286791C>T	ENST00000342788.4	-	24	3215	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	ERBB4_ENST00000436443.1_Missense_Mutation_p.E969K|ERBB4_ENST00000402597.1_Missense_Mutation_p.E959K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	969	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GCAGCCAGTTCCTTAAATTTA	0.383000										TSP Lung(8;0.080)			10	24					0	0	0.001368	0	0
SCG5	6447	broad.mit.edu	37	15	32935871	32935871	+	Silent	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:32935871T>C	ENST00000300175.4	+	2	188	c.78T>C	c.(76-78)gcT>gcC	p.A26A	SCG5_ENST00000413748.2_Silent_p.A26A|SCG5_ENST00000497208.1_Silent_p.A26A|SCG5_ENST00000494364.1_Silent_p.A26A	NM_001144757.1	NP_001138229.1	P05408	7B2_HUMAN	secretogranin V (7B2 protein)	26					intracellular protein transport|neuropeptide signaling pathway|peptide hormone processing|regulation of hormone secretion	extracellular region|stored secretory granule	enzyme inhibitor activity|GTP binding|unfolded protein binding			lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	6		all_lung(180;7.32e-08)		all cancers(64;6.48e-17)|Epithelial(43;1.23e-11)|GBM - Glioblastoma multiforme(186;1.39e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0212)		CAGCATTTGCTTACAGCCCCC	0.537000													17	68					0	0	0.004990	0	0
BMP10	27302	broad.mit.edu	37	2	69092896	69092896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:69092896G>A	ENST00000295379.1	-	2	1300	c.1142C>T	c.(1141-1143)tCc>tTc	p.S381F		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	381					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						AGCTTTCTGGGAATTCTTGAG	0.488000													67	98					0	0	0.003610	0	0
GABRA1	2554	broad.mit.edu	37	5	161302609	161302609	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:161302609C>T	ENST00000428797.2	+	7	875	c.520C>T	c.(520-522)Cct>Tct	p.P174S	GABRA1_ENST00000023897.6_Missense_Mutation_p.P174S|GABRA1_ENST00000393943.4_Missense_Mutation_p.P174S|GABRA1_ENST00000420560.1_Missense_Mutation_p.P174S|GABRA1_ENST00000444819.1_Missense_Mutation_p.P174S|GABRA1_ENST00000437025.2_Missense_Mutation_p.P174S	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	174					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGAGGACTTCCCTATGGATGC	0.378000													19	61					0	0	0.001882	0	0
TMEM66	51669	broad.mit.edu	37	8	29927356	29927356	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:29927356C>T	ENST00000256255.6	-	3	759	c.502G>A	c.(502-504)Gcg>Acg	p.A168T	TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	168						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		CAGGAATCCGCCGAGGACCAC	0.443000													5	58					0	0	0.001984	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803699	160803699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:160803699G>A	ENST00000392781.2	-	8	1591	c.844C>T	c.(844-846)Cat>Tat	p.H282Y	B3GALNT1_ENST00000392779.2_Missense_Mutation_p.H282Y|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Missense_Mutation_p.H282Y|B3GALNT1_ENST00000320474.4_Missense_Mutation_p.H282Y|B3GALNT1_ENST00000392780.1_Missense_Mutation_p.H282Y|B3GALNT1_ENST00000473285.1_Missense_Mutation_p.H282Y	NM_001038628.1	NP_001033717.1	O75752	B3GL1_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)	282					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCTGGAATATGAATGTTCACT	0.373000													8	18					0	0	0.003080	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369460	86369460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:86369460C>T	ENST00000400286.2	-	2	1782	c.1184G>A	c.(1183-1185)gGa>gAa	p.G395E		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	395						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ACGATTGTTTCCCAAGTGAAG	0.348000													6	30					0	0	0.001168	0	0
DICER1	23405	broad.mit.edu	37	14	95573953	95573953	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:95573953G>A	ENST00000526495.1	-	19	3087	c.2796C>T	c.(2794-2796)atC>atT	p.I932I	DICER1_ENST00000541352.1_Silent_p.I932I|DICER1_ENST00000343455.3_Silent_p.I932I|DICER1_ENST00000527414.1_Silent_p.I932I|DICER1_ENST00000393063.1_Silent_p.I932I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	932	PAZ.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACCTTGGAATGATAACGGCAT	0.408000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	67					0	0	0.003080	0	0
FLNB	2317	broad.mit.edu	37	3	58154354	58154354	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:58154354C>T	ENST00000295956.4	+	44	7551	c.7386C>T	c.(7384-7386)atC>atT	p.I2462I	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000419752.2_Silent_p.I2282I|FLNB_ENST00000493452.1_Silent_p.I2269I|FLNB_ENST00000429972.2_Silent_p.I2451I|FLNB_ENST00000490882.1_Silent_p.I2493I|FLNB_ENST00000358537.3_Silent_p.I2438I|FLNB_ENST00000348383.5_Silent_p.I2421I|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000484981.1_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2462	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAACCACATCGTGGGCAGTC	0.527000													6	47					0	0	0.001984	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172139	207172139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:207172139C>T	ENST00000374423.3	+	5	3273	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	963							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTCTGATGTCCCTCTTCAGGC	0.383000													4	36					0	0	0.000248	0	0
C9orf84	158401	broad.mit.edu	37	9	114449114	114449114	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:114449114C>T	ENST00000394779.3	-	24	4398	c.4154G>A	c.(4153-4155)cGa>cAa	p.R1385Q	C9orf84_ENST00000318737.4_Missense_Mutation_p.R1424Q|C9orf84_ENST00000394777.4_Missense_Mutation_p.R1350Q|C9orf84_ENST00000374287.3_Missense_Mutation_p.R1424Q	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1424										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTAGACGTCGTTTTTTGAA	0.373000													4	49					0	0	0.000248	0	0
TRPM7	54822	broad.mit.edu	37	15	50926735	50926735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:50926735G>A	ENST00000313478.7	-	8	1132	c.851C>T	c.(850-852)cCt>cTt	p.P284L	TRPM7_ENST00000560955.1_Missense_Mutation_p.P284L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	284					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TGCCACCACAGGGACACCCTG	0.403000													5	14					0	0	0.001168	0	0
KIAA0319	9856	broad.mit.edu	37	6	24547428	24547428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:24547428C>T	ENST00000535378.1	-	22	3799	c.3157G>A	c.(3157-3159)Gga>Aga	p.G1053R	KIAA0319_ENST00000430948.2_Missense_Mutation_p.G1017R|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G1062R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G1001R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G1062R	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	1062					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAGGAAGCTCCATTTCTGATG	0.463000													14	91					0	0	0.003163	0	0
EPHA8	2046	broad.mit.edu	37	1	22902822	22902822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:22902822G>A	ENST00000166244.3	+	3	344	c.272G>A	c.(271-273)cGa>cAa	p.R91Q	EPHA8_ENST00000538803.1_Missense_Mutation_p.R91Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R91Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	91						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGGTCCCCCGAGACGGCGCC	0.612000													12	41					0	0	0.001368	0	0
KRT74	121391	broad.mit.edu	37	12	52963682	52963682	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:52963682G>A	ENST00000549343.1	-	6	1133	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	KRT74_ENST00000305620.2_Silent_p.I365I			Q7RTS7	K2C74_HUMAN	keratin 74	365	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GGATCCTCTGGATGAGCCGGT	0.592000													12	42					0	0	0.003163	0	0
FSTL4	23105	broad.mit.edu	37	5	132736636	132736636	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:132736636T>G	ENST00000265342.7	-	4	452	c.203A>C	c.(202-204)aAg>aCg	p.K68T		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	68						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCTGCAGAACTTCTTCCCGCA	0.627000													7	41					0	0	0.001984	0	0
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266E|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCTGTTCCGTCCCAGTAGATT	0.517000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			5	8					0	0	0.000602	0	0
TPR	7175	broad.mit.edu	37	1	186304568	186304568	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:186304568G>A	ENST00000367478.3	-	34	5109	c.4813C>T	c.(4813-4815)Caa>Taa	p.Q1605*		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1605					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CCTTCATATTGGGACTTTAGC	0.423000			T	NTRK1	papillary thyroid								16	78					0	0	0.006122	0	0
PMFBP1	83449	broad.mit.edu	37	16	72164148	72164148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:72164148C>T	ENST00000537465.1	-	12	1919	c.1761G>A	c.(1759-1761)atG>atA	p.M587I	PMFBP1_ENST00000237353.10_Missense_Mutation_p.M582I|PMFBP1_ENST00000355636.6_Missense_Mutation_p.M437I			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	587										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CATTCATTTTCATATCCTGCT	0.463000													13	66					0	0	0.001368	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144864155	144864155	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:144864155G>A	ENST00000369359.4	-	39	6386	c.6348C>T	c.(6346-6348)tcC>tcT	p.S2116S	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.S1874S|PDE4DIP_ENST00000369356.4_Silent_p.S1980S|PDE4DIP_ENST00000369354.3_Silent_p.S1980S|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000530740.1_Silent_p.S2065S			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1980					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.S1980S(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTCCTGGAGGGAAAGACGTT	0.468000			T	PDGFRB	MPD								38	446					0	0	0.008740	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140537185	140537185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:140537185C>T	ENST00000539533.1	+	1	1609	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C																								CGCCTCAGACCGCGGTTCTCC	0.652000													18	43					0	0	0.006122	0	0
NCOA5	57727	broad.mit.edu	37	20	44699171	44699171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:44699171G>A	ENST00000290231.6	-	3	207	c.43C>T	c.(43-45)Cca>Tca	p.P15S		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	15	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAGCCATATGGATCCCTGTGG	0.502000													10	70					0	0	0.000978	0	0
SLC23A1	9963	broad.mit.edu	37	5	138713965	138713965	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:138713965G>A	ENST00000353963.3	-	11	1305	c.1267C>T	c.(1267-1269)Ctc>Ttc	p.L423F	SLC23A1_ENST00000348729.3_Missense_Mutation_p.L419F	NM_152685.3	NP_689898.2	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	419					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity	p.L423fs*7(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	GAGGAGAAGAGGGCCGTGAAC	0.682000													3	14					0	0	0.004672	0	0
MOCOS	55034	broad.mit.edu	37	18	33836961	33836961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr18:33836961C>T	ENST00000261326.5	+	12	2216	c.2195C>T	c.(2194-2196)tCt>tTt	p.S732F	MOCOS_ENST00000588132.1_3'UTR	NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	732	MOSC.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCCACCCTTTCTCTGGTGAAT	0.438000													18	129					0	0	0.001882	0	0
CCP110	9738	broad.mit.edu	37	16	19547897	19547897	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:19547897C>T	ENST00000396212.2	+	5	1342	c.906C>T	c.(904-906)ctC>ctT	p.L302L	CCP110_ENST00000396208.2_Silent_p.L302L|CCP110_ENST00000381396.5_Silent_p.L302L	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	302					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						ATGTTCTTCTCCAAGGTGCTT	0.438000													11	37					0	0	0.001855	0	0
DDX23	9416	broad.mit.edu	37	12	49225073	49225073	+	Silent	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:49225073T>A	ENST00000308025.3	-	16	2170	c.2091A>T	c.(2089-2091)ggA>ggT	p.G697G		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	697	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.G697G(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCTGGCCTTTTCCACCGTGCA	0.512000													18	78					0	0	0.008871	0	0
OR2L13	284521	broad.mit.edu	37	1	248262733	248262733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:248262733C>T	ENST00000366478.2	+	3	393	c.56C>T	c.(55-57)cCa>cTa	p.P19L	OR2L13_ENST00000358120.2_Missense_Mutation_p.P19L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	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;0.0132)			CTGCTTCCCCCAAATCAAACT	0.408000													20	81					0	0	0.008871	0	0
KCNG1	3755	broad.mit.edu	37	20	49626318	49626318	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:49626318G>T	ENST00000371571.4	-	2	843	c.558C>A	c.(556-558)gaC>gaA	p.D186E	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.D186E	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	186						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CCAGCGCGTCGTCCTCTTCCT	0.711000													14	45					0.00244969	0.00277055	0.002450	1	0
OR56A3	390083	broad.mit.edu	37	11	5969142	5969142	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5969142C>T	ENST00000329564.6	+	1	573	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGTCTGTTTCCAGACTCTCC	0.463000													24	40					0	0	0.002780	0	0
MYO1A	4640	broad.mit.edu	37	12	57424050	57424050	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57424050C>T	ENST00000442789.2	-	25	2822	c.2535G>A	c.(2533-2535)agG>agA	p.R845R	MYO1A_ENST00000544473.1_Silent_p.R683R|MYO1A_ENST00000300119.3_Silent_p.R845R	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	845					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.R845R(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AGAGCTTTTCCCTCAGGATCT	0.572000													12	45					0	0	0.001368	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94697070	94697070	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:94697070G>A	ENST00000260526.6	-	2	280	c.98C>T	c.(97-99)tCc>tTc	p.S33F	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S33F	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	33					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GGAACTTAAGGACTTGAGCCC	0.383000													14	74					0	0	0.002450	0	0
NASP	4678	broad.mit.edu	37	1	46056914	46056914	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:46056914C>G	ENST00000350030.3	+	2	166	c.79C>G	c.(79-81)Cct>Gct	p.P27A	NASP_ENST00000372052.4_Missense_Mutation_p.P27A|NASP_ENST00000402363.3_Silent_p.L4L|NASP_ENST00000537798.1_Missense_Mutation_p.P27A|NASP_ENST00000351223.3_Missense_Mutation_p.P27A	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	27					blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					TGTTCCTGCTCCTTCTACATC	0.284000													21	78					0	0	0.003330	0	0
RYR3	6263	broad.mit.edu	37	15	34080525	34080525	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:34080525G>A	ENST00000389232.4	+	67	9766	c.9696G>A	c.(9694-9696)gaG>gaA	p.E3232E	RYR3_ENST00000415757.3_Silent_p.E3232E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3232					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGTGCAGGAGGAGGAGCAGT	0.562000													16	71					0	0	0.008871	0	0
SLC28A1	9154	broad.mit.edu	37	15	85431019	85431019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr15:85431019G>A	ENST00000394573.1	+	3	230	c.28G>A	c.(28-30)Gag>Aag	p.E10K	SLC28A1_ENST00000537216.1_Missense_Mutation_p.E10K|SLC28A1_ENST00000338602.2_Missense_Mutation_p.E10K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E10K|SLC28A1_ENST00000537624.1_Missense_Mutation_p.E10K|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E10K|SLC28A1_ENST00000537703.1_5'UTR	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	10					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GAGACGAAGAGAGTCCATCTC	0.582000													15	41					0	0	0.003163	0	0
ZNF699	374879	broad.mit.edu	37	19	9407285	9407285	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:9407285G>A	ENST00000591998.1	-	6	1023	c.795C>T	c.(793-795)ttC>ttT	p.F265F	ZNF699_ENST00000308650.3_Silent_p.F265F			Q32M78	ZN699_HUMAN	zinc finger protein 699	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTGCCCTAAAGAATGAGGAAC	0.393000													5	44					0	0	0.000602	0	0
OR8I2	120586	broad.mit.edu	37	11	55861147	55861147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:55861147C>T	ENST00000302124.2	+	1	395	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	OR8I2_ENST00000560768.1_Missense_Mutation_p.R122C			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCCTACAATCGCTACATAGC	0.433000													22	51					0	0	0.001523	0	0
NFKB2	4791	broad.mit.edu	37	10	104156228	104156228	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr10:104156228C>T	ENST00000369966.3	+	4	376	c.126C>T	c.(124-126)atC>atT	p.I42I	NFKB2_ENST00000189444.6_Silent_p.I42I|NFKB2_ENST00000428099.1_Silent_p.I42I	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	42	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I42I(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ACCTGGTGATCGTGGAACAGC	0.607000			T	IGH@	B-NHL								5	32					0	0	0.000602	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	48					0	0	0.000602	0	0
BTBD8	284697	broad.mit.edu	37	1	92573483	92573483	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:92573483T>A	ENST00000370382.3	+	4	854	c.587T>A	c.(586-588)tTa>tAa	p.L196*	BTBD8_ENST00000342818.3_Nonsense_Mutation_p.L196*|BTBD8_ENST00000540648.1_Nonsense_Mutation_p.L196*			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	196						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		GGAGAAGATTTATTGAAGCTT	0.303000													7	45					0	0	0.003080	0	0
OR10G9	219870	broad.mit.edu	37	11	123894487	123894487	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:123894487C>T	ENST00000375024.1	+	1	768	c.768C>T	c.(766-768)ttC>ttT	p.F256F		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTGTGTTTTCATTTACCTGA	0.542000													12	55					0	0	0.001368	0	0
SPERT	220082	broad.mit.edu	37	13	46287544	46287544	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr13:46287544C>T	ENST00000378966.3	+	2	692	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SPERT_ENST00000310521.1_Silent_p.F128F			Q8NA61	SPERT_HUMAN	spermatid associated	128						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		ACGAGATGTTCGTGTTCCAGG	0.632000													8	44					0	0	0.004482	0	0
SCN1A	6323	broad.mit.edu	37	2	166892769	166892769	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:166892769A>C	ENST00000423058.2	-	16	3235	c.3218T>G	c.(3217-3219)cTt>cGt	p.L1073R	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.L1073R|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1045R|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1062R	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1073						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAGATAGTCAAGATCTTTCCC	0.318000													6	37					0	0	0.001168	0	0
PTPRT	11122	broad.mit.edu	37	20	40714415	40714415	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40714415C>T	ENST00000373198.3	-	29	4226	c.3991G>A	c.(3991-3993)Gac>Aac	p.D1331N	PTPRT_ENST00000373193.3_Missense_Mutation_p.D1312N|PTPRT_ENST00000373201.1_Missense_Mutation_p.D1299N|PTPRT_ENST00000373190.1_Missense_Mutation_p.D1308N|PTPRT_ENST00000356100.2_Missense_Mutation_p.D1318N|PTPRT_ENST00000373187.1_Missense_Mutation_p.D1309N|PTPRT_ENST00000373184.1_Missense_Mutation_p.D1319N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1309	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGTCCTCGTCGATGTCTGCG	0.557000													7	81					0	0	0.003080	0	0
SCRN1	9805	broad.mit.edu	37	7	29983621	29983621	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:29983621C>T	ENST00000426154.1	-	4	692	c.516G>A	c.(514-516)ggG>ggA	p.G172G	SCRN1_ENST00000242059.5_Silent_p.G172G|SCRN1_ENST00000409497.1_Silent_p.G172G|SCRN1_ENST00000416113.2_Silent_p.G63G	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CCCAGTACTTCCCTATGGTCT	0.527000													13	90					0	0	0.003163	0	0
LRRN2	10446	broad.mit.edu	37	1	204588034	204588034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:204588034C>T	ENST00000367175.1	-	1	3299	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	LRRN2_ENST00000367176.3_Missense_Mutation_p.E363K|LRRN2_ENST00000367177.3_Missense_Mutation_p.E363K			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	363					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGACCTACCTCCTGCAGGTTG	0.632000													5	55					0	0	0.000602	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919744	43919744	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:43919744C>T	ENST00000282406.4	+	4	388	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	93						cytoplasm|cytoskeleton|integral to membrane	binding	p.S93L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GATCTGGAGTCGCTAATACAG	0.338000													28	179					0	0	0.002445	0	0
NEB	4703	broad.mit.edu	37	2	152499715	152499715	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:152499715C>T	ENST00000427231.2	-	58	8311	c.8109G>A	c.(8107-8109)atG>atA	p.M2703I	NEB_ENST00000172853.10_Missense_Mutation_p.M2703I|NEB_ENST00000397345.3_Missense_Mutation_p.M2703I|NEB_ENST00000409198.1_Missense_Mutation_p.M2703I|NEB_ENST00000604864.1_Missense_Mutation_p.M2703I|NEB_ENST00000603639.1_Missense_Mutation_p.M2703I	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	2703					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTATGGAATCCATAAGGCTGG	0.373000													44	111					0	0	0.003610	0	0
SORL1	6653	broad.mit.edu	37	11	121476278	121476278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:121476278G>A	ENST00000260197.7	+	35	5075	c.4946G>A	c.(4945-4947)gGa>gAa	p.G1649E	SORL1_ENST00000525532.1_Missense_Mutation_p.G593E|SORL1_ENST00000534286.1_Missense_Mutation_p.G559E|SORL1_ENST00000532694.1_Missense_Mutation_p.G495E|SORL1_ENST00000527934.1_Missense_Mutation_p.G264E	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1649					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCCCAGAGGGATGTAAGTGT	0.458000													32	93					0	0	0.002836	0	0
EXOC2	55770	broad.mit.edu	37	6	599152	599152	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:599152A>T	ENST00000230449.4	-	8	951	c.816T>A	c.(814-816)aaT>aaA	p.N272K	EXOC2_ENST00000448181.3_Intron	NM_018303.4	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	272					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CATTGAGTGCATTTCTAGTGG	0.333000													16	141					0	0	0.008871	0	0
SCN11A	11280	broad.mit.edu	37	3	38938483	38938483	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:38938483C>T	ENST00000450244.1	-	14	2454	c.2256G>A	c.(2254-2256)ggG>ggA	p.G752G	SCN11A_ENST00000456224.3_Silent_p.G752G|SCN11A_ENST00000302328.3_Silent_p.G752G|SCN11A_ENST00000444237.2_Silent_p.G752G			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	752					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCCAGAAATCCCCCATGTGCC	0.493000													10	32					0	0	0.008291	0	0
RAB19	401409	broad.mit.edu	37	7	140107535	140107535	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:140107535A>G	ENST00000275874.5	+	2	287	c.89A>G	c.(88-90)aAg>aGg	p.K30R	RAB19_ENST00000537763.1_Missense_Mutation_p.K30R|RAB19_ENST00000356407.3_Missense_Mutation_p.K30R			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	30					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					AATGTGGGGAAGACGTGTGTG	0.493000													10	51					0	0	0.008291	0	0
OR5H15	403274	broad.mit.edu	37	3	97888470	97888470	+	Silent	SNP	T	T	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:97888470T>A	ENST00000356526.2	+	1	927	c.927T>A	c.(925-927)gtT>gtA	p.V309V		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AAAGAAATGTTAAGGTTTCAT	0.289000													14	20					0	0	0.004007	0	0
C6orf15	29113	broad.mit.edu	37	6	31079814	31079814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:31079814C>T	ENST00000259870.3	-	2	325	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	108										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						GGCCAGGAATCCATGGCAGGC	0.627000													12	39					0	0	0.001368	0	0
TC2N	123036	broad.mit.edu	37	14	92265364	92265364	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:92265364C>T	ENST00000435962.2	-	6	929	c.606G>A	c.(604-606)agG>agA	p.R202R	TC2N_ENST00000360594.5_Silent_p.R202R|TC2N_ENST00000340892.5_Silent_p.R202R|TC2N_ENST00000556018.1_Silent_p.R202R	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	202						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GAGAATTTTTCCTTGAAGAAG	0.323000													16	42					0	0	0.007413	0	0
OPRL1	4987	broad.mit.edu	37	20	62724142	62724142	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:62724142C>T	ENST00000349451.3	+	4	481	c.69C>T	c.(67-69)tcC>tcT	p.S23S	OPRL1_ENST00000355631.4_Silent_p.S23S|OPRL1_ENST00000336866.2_Silent_p.S23S	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	23					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCAACCTGTCCCTCCTGAGCC	0.647000													24	65					0	0	0.004656	0	0
TCL1B	9623	broad.mit.edu	37	14	96157638	96157638	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:96157638C>T	ENST00000340722.7	+	3	418	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	RP11-1070N10.6_ENST00000461160.1_RNA	NM_004918.3	NP_004909.1	O95988	TCL1B_HUMAN	T-cell leukemia/lymphoma 1B	123										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)		CCTAACATATCAGCCGGAGAG	0.552000													7	48					0	0	0.003080	0	0
TOX4	9878	broad.mit.edu	37	14	21961098	21961098	+	Silent	SNP	C	C	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:21961098C>G	ENST00000405508.1	+	8	1599	c.1323C>G	c.(1321-1323)ccC>ccG	p.P441P	TOX4_ENST00000448790.2_Silent_p.P418P|TOX4_ENST00000262709.3_Silent_p.P441P			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	441	Gln/Pro-rich.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TGCCTCCACCCCGACTACAGC	0.582000													18	96					0	0	0.007413	0	0
ZBBX	79740	broad.mit.edu	37	3	167031881	167031881	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:167031881T>G	ENST00000392766.2	-	16	1638	c.1298A>C	c.(1297-1299)aAg>aCg	p.K433T	ZBBX_ENST00000392767.2_Missense_Mutation_p.K433T|ZBBX_ENST00000307529.5_Missense_Mutation_p.K433T|ZBBX_ENST00000392764.1_Missense_Mutation_p.K404T|ZBBX_ENST00000455345.2_Missense_Mutation_p.K433T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	433						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAGCTATTCTTCTGACAATC	0.308000													9	40					0	0	0.008291	0	0
TLL1	7092	broad.mit.edu	37	4	166999147	166999147	+	Missense_Mutation	SNP	G	G	A	rs150952504		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:166999147G>A	ENST00000061240.2	+	18	3054	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	TLL1_ENST00000507499.1_Missense_Mutation_p.E826K	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	803	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATGCACTTGGGAAATCAGCGC	0.488000													5	44					0	0	0.000602	0	0
GPR141	353345	broad.mit.edu	37	7	37780105	37780105	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:37780105C>T	ENST00000447769.1	+	4	399	c.110C>T	c.(109-111)tCc>tTc	p.S37F	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.S37F|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	37						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGTGTCATTTCCATTCTTTTC	0.498000													13	65					0	0	0.001368	0	0
DNER	92737	broad.mit.edu	37	2	230231626	230231626	+	Missense_Mutation	SNP	C	C	T	rs150035332		TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:230231626C>T	ENST00000341772.4	-	12	2199	c.2065G>A	c.(2065-2067)Gag>Aag	p.E689K		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	689					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		TTGCTGAACTCGCTGTCGATG	0.572000													5	60					0	0	0.000602	0	0
CFI	3426	broad.mit.edu	37	4	110667386	110667386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:110667386C>T	ENST00000394634.2	-	11	1628	c.1421G>A	c.(1420-1422)cGa>cAa	p.R474Q	CFI_ENST00000512148.1_Missense_Mutation_p.R467Q|CFI_ENST00000394635.3_Missense_Mutation_p.R482Q	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	474	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		ACCTTTTTCTCGTCCCCAGCC	0.418000													12	24					0	0	0.000978	0	0
PAPPA2	60676	broad.mit.edu	37	1	176679284	176679284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:176679284C>T	ENST00000367662.3	+	11	4787	c.3623C>T	c.(3622-3624)tCc>tTc	p.S1208F		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1208					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTCCTGTTTCCTTGGTAACT	0.463000													15	85					0	0	0.003163	0	0
KCNK17	89822	broad.mit.edu	37	6	39267425	39267425	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:39267425G>A	ENST00000373231.4	-	5	1009	c.777C>T	c.(775-777)atC>atT	p.I259I	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	259						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						TGAGTTTGATGATCAAGGCCA	0.557000													11	105					0	0	0.000978	0	0
TRAV19	28664	broad.mit.edu	37	14	22476386	22476386	+	RNA	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22476386G>A	ENST00000390447.3	+	0	433																											ACAAGTCGTGGACTCAGCAGT	0.498000													6	14					0	0	0.001168	0	0
NACA	4666	broad.mit.edu	37	12	57114700	57114700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57114700G>A	ENST00000454682.1	-	3	895	c.614C>T	c.(613-615)cCt>cTt	p.P205L	NACA_ENST00000550952.1_Missense_Mutation_p.P205L|NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0	UBA.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TATACATGGAGGGCTGGGGGT	0.493000			T	BCL6	NHL								12	89					0	0	0.000978	0	0
AGRN	375790	broad.mit.edu	37	1	983023	983023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:983023C>T	ENST00000379370.2	+	21	3637	c.3587C>T	c.(3586-3588)cCc>cTc	p.P1196L		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1196	SEA.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GACCTGGGGCCCGGCAAATCC	0.622000													13	53					0	0	0.004990	0	0
ZNF107	51427	broad.mit.edu	37	7	64168626	64168626	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:64168626C>T	ENST00000395391.1	+	4	3319	c.1944C>T	c.(1942-1944)tcC>tcT	p.S648S	ZNF107_ENST00000344930.3_Silent_p.S648S|ZNF107_ENST00000423627.1_Silent_p.S648S			Q9UII5	ZN107_HUMAN	zinc finger protein 107	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTAACTGCTCCTCAACCCTTA	0.378000													5	17					0	0	0.000602	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665960	19665960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:19665960G>A	ENST00000328041.6	+	12	1476	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	427	Poly-Glu.					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.D427N(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ggaagaggaggacgaggatga	0.522000													14	48					0	0	0.004007	0	0
IFNA14	3448	broad.mit.edu	37	9	21239911	21239911	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:21239911C>T	ENST00000380222.2	-	1	67	c.24G>A	c.(22-24)atG>atA	p.M8I		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	8					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CCAGGGCCATCATTAAAGCAA	0.512000													11	52					0	0	0.001368	0	0
TNKS	8658	broad.mit.edu	37	8	9565929	9565929	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:9565929T>C	ENST00000310430.6	+	9	1531	c.1505T>C	c.(1504-1506)tTa>tCa	p.L502S	TNKS_ENST00000520408.1_Missense_Mutation_p.L502S|TNKS_ENST00000518281.1_Missense_Mutation_p.L265S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	502					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		GAAGCAGACTTAGCTAAAGTT	0.318000													6	62					0	0	0.001984	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376338	117376338	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:117376338C>T	ENST00000321322.6	-	9	2074	c.2073G>A	c.(2071-2073)agG>agA	p.R691R	DSCAML1_ENST00000527706.1_Silent_p.R421R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	631	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTCCGTCCTTCCTCCAGGTGA	0.587000													16	31					0	0	0.004007	0	0
PTPRT	11122	broad.mit.edu	37	20	40733322	40733322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr20:40733322C>T	ENST00000373198.3	-	26	3728	c.3493G>A	c.(3493-3495)Gcg>Acg	p.A1165T	PTPRT_ENST00000373193.3_Missense_Mutation_p.A1146T|PTPRT_ENST00000373201.1_Missense_Mutation_p.A1133T|PTPRT_ENST00000373190.1_Missense_Mutation_p.A1142T|PTPRT_ENST00000356100.2_Missense_Mutation_p.A1152T|PTPRT_ENST00000373187.1_Missense_Mutation_p.A1143T|PTPRT_ENST00000373184.1_Missense_Mutation_p.A1153T	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1143					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGAGGCACGCTTCCAGGATG	0.522000													11	44					0	0	0.000978	0	0
PSD4	23550	broad.mit.edu	37	2	113950850	113950850	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr2:113950850C>T	ENST00000245796.6	+	8	2130	c.1935C>T	c.(1933-1935)gcC>gcT	p.A645A	PSD4_ENST00000441564.2_Silent_p.A617A	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	645	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCTCCAGGCCTTGGTGCTCA	0.607000													4	43					0	0	0.000602	0	0
ABCC12	94160	broad.mit.edu	37	16	48180277	48180277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr16:48180277G>A	ENST00000311303.3	-	1	404	c.59C>T	c.(58-60)tCc>tTc	p.S20F	ABCC12_ENST00000416054.1_Missense_Mutation_p.S20F|ABCC12_ENST00000448542.1_Missense_Mutation_p.S20F	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	20						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTGCAAAGGATCTCCGCCG	0.587000													12	63					0	0	0.001368	0	0
ZNF676	163223	broad.mit.edu	37	19	22364005	22364005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:22364005C>T	ENST00000397121.2	-	3	831	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	172					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CCATTTTCTTCACATTTGTAG	0.343000													5	40					0	0	0.001168	0	0
MECOM	2122	broad.mit.edu	37	3	168810796	168810796	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:168810796G>A	ENST00000464456.1	-	12	3723	c.2523C>T	c.(2521-2523)ttC>ttT	p.F841F	MECOM_ENST00000494292.1_Silent_p.F1029F|MECOM_ENST00000392736.3_Silent_p.F850F|MECOM_ENST00000472280.1_Silent_p.F851F|MECOM_ENST00000468789.1_Silent_p.F850F|MECOM_ENST00000264674.3_Silent_p.F915F|MECOM_ENST00000460814.1_Silent_p.F841F|MECOM_ENST00000433243.2_Silent_p.F851F	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGTTCCCAATGAAATTTCGAA	0.433000													15	50					0	0	0.003163	0	0
PEG3	5178	broad.mit.edu	37	19	57326527	57326527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:57326527C>T	ENST00000326441.9	-	10	3646	c.3283G>A	c.(3283-3285)Gaa>Aaa	p.E1095K	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.E971K|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.E1095K|PEG3_ENST00000593695.1_Missense_Mutation_p.E969K|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1095					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGAGGGTCTTCCATGTCTGAG	0.512000													10	85					0	0	0.008291	0	0
BAI1	575	broad.mit.edu	37	8	143605608	143605608	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr8:143605608C>T	ENST00000517894.1	+	23	4149	c.3255C>T	c.(3253-3255)ctC>ctT	p.L1085L	BAI1_ENST00000323289.5_Silent_p.L1085L			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1085					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			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)					GCTGCTGGCTCTCCCTGGAGG	0.697000													4	8					0	0	0.000602	0	0
OR5C1	392391	broad.mit.edu	37	9	125551886	125551886	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr9:125551886C>T	ENST00000373680.2	+	1	737	c.675C>T	c.(673-675)atC>atT	p.I225I		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATGGCTTCATCGCTGGGGCTG	0.592000													6	35					0	0	0.004482	0	0
PSMA1	5682	broad.mit.edu	37	11	14535181	14535181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:14535181G>A	ENST00000530457.1	-	7	934	c.404C>T	c.(403-405)tCc>tTc	p.S135F	PSMA1_ENST00000396394.2_Missense_Mutation_p.S160F|PSMA1_ENST00000396393.1_Missense_Mutation_p.S160F|PSMA1_ENST00000418988.2_Missense_Mutation_p.S166F|PSMA1_ENST00000555531.1_Missense_Mutation_p.P141S|PSMA1_ENST00000419365.2_Missense_Mutation_p.P141S			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	160					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GGCTCCAATGGACATGGCTCT	0.373000													8	23					0	0	0.003080	0	0
MAD1L1	8379	broad.mit.edu	37	7	2269665	2269665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:2269665G>A	ENST00000406869.1	-	3	661	c.104C>T	c.(103-105)aCc>aTc	p.T35I	MAD1L1_ENST00000265854.7_Missense_Mutation_p.T35I|MAD1L1_ENST00000402746.1_Intron|MAD1L1_ENST00000399654.2_Missense_Mutation_p.T35I			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	35					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TGGGGCCGAGGTAGAAATATC	0.572000													13	22					0	0	0.001855	0	0
MYO1A	4640	broad.mit.edu	37	12	57430593	57430593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:57430593G>A	ENST00000442789.2	-	22	2524	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	MYO1A_ENST00000544473.1_Missense_Mutation_p.S584F|MYO1A_ENST00000300119.3_Missense_Mutation_p.S746F	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	746	IQ 3.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAATAACACGGATGCCTTTAT	0.453000													18	87					0	0	0.001523	0	0
MYLK	4638	broad.mit.edu	37	3	123428636	123428636	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr3:123428636C>T	ENST00000360772.3	-	15	2287	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	MYLK_ENST00000475616.1_Missense_Mutation_p.G637R|MYLK_ENST00000360304.3_Missense_Mutation_p.G637R|MYLK_ENST00000359169.1_Missense_Mutation_p.G637R|MYLK_ENST00000346322.5_Missense_Mutation_p.G568R			Q15746	MYLK_HUMAN	myosin light chain kinase	637	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ACCTGGCTTCCATCCATGACT	0.517000													78	215					0	0	0.003610	0	0
VCAN	1462	broad.mit.edu	37	5	82815862	82815862	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr5:82815862C>T	ENST00000265077.3	+	7	2302	c.1737C>T	c.(1735-1737)gtC>gtT	p.V579V	VCAN_ENST00000342785.4_Silent_p.V579V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Silent_p.V531V	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	579	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCCTGAAGTCATTACGGTGT	0.433000													33	43					0	0	0.002836	0	0
WDR17	116966	broad.mit.edu	37	4	177094490	177094490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:177094490C>T	ENST00000393643.2	+	26	3614	c.3362C>T	c.(3361-3363)aCt>aTt	p.T1121I	WDR17_ENST00000280190.4_Missense_Mutation_p.T1145I|WDR17_ENST00000507824.2_Missense_Mutation_p.T1120I|WDR17_ENST00000508596.1_Missense_Mutation_p.T1106I	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1145										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATATTCGTACTGAAAAATTA	0.333000													5	20					0	0	0.001168	0	0
PKD1L1	168507	broad.mit.edu	37	7	47840287	47840287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr7:47840287C>T	ENST00000289672.2	-	54	8203	c.8153G>A	c.(8152-8154)gGg>gAg	p.G2718E	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2718					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAAAGGATCCCAAAGTAACA	0.458000													4	49					0	0	0.001984	0	0
FANCE	2178	broad.mit.edu	37	6	35434023	35434023	+	Silent	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:35434023C>T	ENST00000229769.2	+	10	1697	c.1512C>T	c.(1510-1512)atC>atT	p.I504I		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	504					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CTCCCCAGATCACTGAGACCC	0.582000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	66					0	0	0.004482	0	0
ZIM3	114026	broad.mit.edu	37	19	57646515	57646515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr19:57646515C>T	ENST00000269834.1	-	5	1575	c.1190G>A	c.(1189-1191)gGa>gAa	p.G397E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAAGGCTTTTCCACATCTGTT	0.393000													18	110					0	0	0.004990	0	0
HTT	3064	broad.mit.edu	37	4	3134345	3134345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr4:3134345C>T	ENST00000355072.5	+	17	2438	c.2293C>T	c.(2293-2295)Cga>Tga	p.R765*		NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	765					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CCCACAGGTTCGAGGAGCCAC	0.517000													10	33					0	0	0.008291	0	0
OR51I2	390064	broad.mit.edu	37	11	5475345	5475345	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr11:5475345G>A	ENST00000341449.2	+	1	708	c.627G>A	c.(625-627)atG>atA	p.M209I	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCTTTGGCATGGACCTGTTTT	0.483000													13	108					0	0	0.002450	0	0
AACS	65985	broad.mit.edu	37	12	125621227	125621227	+	Silent	SNP	G	G	A			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr12:125621227G>A	ENST00000316519.6	+	17	1904	c.1698G>A	c.(1696-1698)gtG>gtA	p.V566V	AACS_ENST00000545511.1_Intron|AACS_ENST00000543665.1_Intron|AACS_ENST00000261686.6_Intron|AACS_ENST00000316543.10_Silent_p.V164V|AACS_ENST00000398953.2_3'UTR	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	566					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCGAGGAGGTGGAGGACAGCC	0.612000													5	26					0	0	0.001168	0	0
FMO1	2326	broad.mit.edu	37	1	171251361	171251361	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:171251361C>T	ENST00000354841.4	+	6	1203	c.1072C>T	c.(1072-1074)Cct>Tct	p.P358S	FMO1_ENST00000402921.2_Missense_Mutation_p.P295S|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.P358S			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	358					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTATATCTTCCCTGCACATCT	0.488000													8	68					0	0	0.003080	0	0
FBXO28	23219	broad.mit.edu	37	1	224301887	224301887	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr1:224301887delA	ENST00000366862.5	+	1	99	c.56delA	c.(55-57)gcfs	p.D19fs	FBXO28_ENST00000424254.2_Frame_Shift_Del_p.D19fs	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	19										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		GGCCAAGGCGACGGCGGTTCC	0.721													3	5	---	---	---	---					
HLA-V	352962	broad.mit.edu	37	6	29761627	29761627	+	RNA	DEL	T	T	-			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr6:29761627delT	ENST00000457107.1	+	0	853																											ccccttgtcctgttgtaagtg	0.502													5	9	---	---	---	---					
TRAV9-2	28677	broad.mit.edu	37	14	22409540	22409540	+	RNA	DEL	T	T	-			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr14:22409540delT	ENST00000390441.2	+	0	102																											tctctctctctTTTTTTTTTT	0.428													4	2	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs|FAM104A_ENST00000583024.1_Intron	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													51	89	---	---	---	---					
DDX3X	1654	broad.mit.edu	37	X	41206947	41206948	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EE-A2MU-06A-21D-A196-08	TCGA-EE-A2MU-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5c3e1c8-8b83-4678-9b28-b1c6beb793f8	2fe24235-9ab3-468d-9f11-54b0e6c0c8dc	g.chrX:41206947_41206948insG	ENST00000399959.2	+	17	2819_2820	c.1964_1965insG	c.(1963-1965)cggfs	p.R655fs	DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Frame_Shift_Ins_p.R132fs|DDX3X_ENST00000457138.2_Frame_Shift_Ins_p.R639fs	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	655	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TATAACTCCCAGGGGGTTGACT	0.421										HNSCC(61;0.18)			24	31	---	---	---	---